#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_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_ORegAnno_bin	i_TTotCov	i_TVarCov	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_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
TNFRSF4	7293	hgsc.bcm.edu	37	1	1146948	1146948	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:1146948A>T	ENST00000379236.3	-	7	825	c.821T>A	c.(820-822)cTg>cAg	p.L274Q	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	274					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GATCTTGGCCAGGGTGGAGTG	0.697																																					p.L274Q		Atlas-SNP	.											.	TNFRSF4	12	.	0			c.T821A						.						31.0	37.0	35.0					1																	1146948		2202	4299	6501	SO:0001583	missense	7293	exon7			TTGGCCAGGGTGG	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.821T>A	chr1.hg19:g.1146948A>T	ENSP00000368538:p.Leu274Gln	85.0	0.0		52.0	23.0	NM_003327	Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	hg19	CCDS11.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885967	0.51908	.	.	ENSG00000186827	ENST00000379236	T	0.71103	-0.54	3.17	3.17	0.36434	.	0.517876	0.14050	N	0.344812	T	0.77498	0.4139	L	0.54323	1.7	0.37429	D	0.91393	D	0.64830	0.994	P	0.61328	0.887	T	0.80795	-0.1223	10	0.87932	D	0	-2.8652	11.2007	0.48739	1.0:0.0:0.0:0.0	.	274	P43489	TNR4_HUMAN	Q	274	ENSP00000368538:L274Q	ENSP00000368538:L274Q	L	-	2	0	TNFRSF4	1136811	0.998000	0.40836	0.972000	0.41901	0.296000	0.27459	1.932000	0.40143	1.686000	0.51046	0.397000	0.26171	CTG	.	.		0.697	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1		
CFAP74	85452	hgsc.bcm.edu	37	1	1888169	1888169	+	IGR	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:1888169T>A								TMEM52 (37457 upstream) : C1orf222 (31393 downstream)																							GTCCGAGACGTGGTCTCTCCT	0.602																																					p.T636S		Atlas-SNP	.											.	KIAA1751	92	.	0			c.A1906T						.						69.0	74.0	73.0					1																	1888169		2169	4272	6441	SO:0001628	intergenic_variant	85452	exon17			GAGACGTGGTCTC																													chr1.hg19:g.1888169T>A		133.0	0.0		100.0	47.0	NM_001080484		Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	T	7.704	0.693617	0.15039	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	-1.44	0.08856	.	0.926256	0.09088	N	0.850224	T	0.26774	0.0655	L	0.39633	1.23	0.09310	N	0.999998	B;B	0.33171	0.4;0.167	B;B	0.30855	0.121;0.085	T	0.21552	-1.0242	9	0.06757	T	0.87	-3.2633	9.0462	0.36347	0.0:0.4884:0.0:0.5116	.	636;636	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	S	636;83	.	ENSP00000270720:T636S	T	-	1	0	C1orf222	1878029	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	-0.313000	0.08103	-0.212000	0.10109	-0.766000	0.03442	ACG	.	.	0	0.602								
CFAP74	85452	hgsc.bcm.edu	37	1	1900247	1900247	+	IGR	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:1900247T>C								TMEM52 (49535 upstream) : C1orf222 (19315 downstream)																							TCCTGCTTTCTGAGCTTCTGC	0.587																																					p.R358G		Atlas-SNP	.											.	KIAA1751	92	.	0			c.A1072G						.						112.0	118.0	116.0					1																	1900247		2024	4178	6202	SO:0001628	intergenic_variant	85452	exon11			GCTTTCTGAGCTT																													chr1.hg19:g.1900247T>C		51.0	0.0		43.0	21.0	NM_001080484		Missense_Mutation	SNP		hg19		.	.	.	.	.	.	.	.	.	.	t	12.83	2.056999	0.36277	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.67	-3.31	0.04988	.	0.166663	0.37178	N	0.002218	T	0.61438	0.2347	M	0.71581	2.175	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.59873	-0.7372	9	0.72032	D	0.01	-25.0296	12.7919	0.57539	0.0:0.0:0.3766:0.6234	.	358;358	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	G	358	.	ENSP00000270720:R358G	R	-	1	2	C1orf222	1890107	0.003000	0.15002	0.116000	0.21606	0.506000	0.33950	0.164000	0.16542	-0.398000	0.07679	-0.475000	0.04921	AGA	.	.	0	0.587								
PLCH2	9651	hgsc.bcm.edu	37	1	2409915	2409915	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:2409915T>C	ENST00000419816.2	+	2	399	c.125T>C	c.(124-126)gTg>gCg	p.V42A	PLCH2_ENST00000288766.5_5'UTR|PLCH2_ENST00000378488.3_Splice_Site_p.V42A|PLCH2_ENST00000378486.3_Splice_Site_p.V42A|PLCH2_ENST00000449969.1_Splice_Site_p.V15A			O75038	PLCH2_HUMAN	phospholipase C, eta 2	42	Necessary for plasma membrane localization. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCGTGTCCAGTGGAGCGGTGC	0.657																																					p.V42A		Atlas-SNP	.											.	PLCH2	131	.	0			c.T125C						.						51.0	58.0	56.0					1																	2409915		2198	4294	6492	SO:0001630	splice_region_variant	9651	exon2			GTCCAGTGGAGCG	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.125-1T>C	chr1.hg19:g.2409915T>C		54.0	0.0		41.0	23.0	NM_014638	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	hg19		.	.	.	.	.	.	.	.	.	.	T	12.46	1.943207	0.34283	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488	T;T;T	0.63417	-0.04;-0.04;-0.04	4.57	4.57	0.56435	Pleckstrin homology-type (1);	0.089852	0.44688	N	0.000436	T	0.47377	0.1442	N	0.25825	0.765	0.80722	D	1	B	0.26512	0.151	B	0.25405	0.06	T	0.39292	-0.9621	9	.	.	.	.	13.0845	0.59132	0.0:0.0:0.0:1.0	.	42	O75038	PLCH2_HUMAN	A	15;42;42	ENSP00000397289:V15A;ENSP00000367747:V42A;ENSP00000367749:V42A	.	V	+	2	0	PLCH2	2399775	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.722000	0.84778	1.691000	0.51100	0.459000	0.35465	GTG	.	.		0.657	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	Missense_Mutation
PRDM16	63976	hgsc.bcm.edu	37	1	3102902	3102902	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:3102902T>A	ENST00000270722.5	+	2	300	c.251T>A	c.(250-252)tTc>tAc	p.F84Y	PRDM16_ENST00000511072.1_Missense_Mutation_p.F84Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.F84Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.F84Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.F84Y|PRDM16_ENST00000378398.3_Missense_Mutation_p.F84Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.F84Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	84	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCAGCAGACTTCGAGCTCCGA	0.667			T	EVI1	"""MDS, AML"""																																p.F84Y		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.T251A						.						44.0	52.0	50.0					1																	3102902		1939	4127	6066	SO:0001583	missense	63976	exon2			CAGACTTCGAGCT	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.251T>A	chr1.hg19:g.3102902T>A	ENSP00000270722:p.Phe84Tyr	190.0	0.0		121.0	51.0	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	hg19	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710523	0.68730	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.72725	0.82;0.82;-0.68;-0.68;-0.68;0.82;-0.68	5.29	5.29	0.74685	SET domain (2);	0.000000	0.46758	U	0.000275	T	0.77274	0.4106	M	0.64170	1.965	0.36662	D	0.878003	D;D;D;D	0.63046	0.986;0.992;0.992;0.986	P;P;P;P	0.54499	0.572;0.754;0.754;0.572	T	0.81944	-0.0701	10	0.44086	T	0.13	.	15.2085	0.73198	0.0:0.0:0.0:1.0	.	84;84;84;84	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Y	84	ENSP00000426975:F84Y;ENSP00000367651:F84Y;ENSP00000407968:F84Y;ENSP00000405253:F84Y;ENSP00000367643:F84Y;ENSP00000421400:F84Y;ENSP00000270722:F84Y	ENSP00000270722:F84Y	F	+	2	0	PRDM16	3092762	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	7.560000	0.82277	1.999000	0.58509	0.459000	0.35465	TTC	.	.		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
PRDM16	63976	hgsc.bcm.edu	37	1	3319469	3319469	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:3319469T>A	ENST00000270722.5	+	6	840	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	PRDM16_ENST00000378391.2_Missense_Mutation_p.L264Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.L265Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.L264Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.L265Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.L265Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.L264Q|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	264					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TACGAGGGCCTGGCTGAGGAG	0.637			T	EVI1	"""MDS, AML"""																																p.L264Q		Atlas-SNP	.		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	PRDM16	147	.	0			c.T791A						.						48.0	59.0	55.0					1																	3319469		2144	4263	6407	SO:0001583	missense	63976	exon6			AGGGCCTGGCTGA	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.791T>A	chr1.hg19:g.3319469T>A	ENSP00000270722:p.Leu264Gln	212.0	0.0		167.0	89.0	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	hg19	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691946	0.88735	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.07114	3.28;3.31;3.32;3.31;3.31;3.3;3.3;3.27;3.22	4.32	4.32	0.51571	.	0.433888	0.16447	U	0.214050	T	0.19087	0.0458	L	0.34521	1.04	0.54753	D	0.99998	D;D;P;P	0.89917	1.0;0.989;0.666;0.883	D;P;B;P	0.87578	0.998;0.885;0.23;0.462	T	0.01330	-1.1383	10	0.62326	D	0.03	.	13.1264	0.59358	0.0:0.0:0.0:1.0	.	264;264;264;264	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	265;265;264;264;264;265;264;80;80;73	ENSP00000426975:L265Q;ENSP00000367651:L265Q;ENSP00000407968:L264Q;ENSP00000405253:L264Q;ENSP00000367643:L264Q;ENSP00000421400:L265Q;ENSP00000270722:L264Q;ENSP00000422504:L80Q;ENSP00000425796:L73Q	ENSP00000270722:L264Q	L	+	2	0	PRDM16	3309329	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	6.067000	0.71193	1.585000	0.49928	0.459000	0.35465	CTG	.	.		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
CCDC27	148870	hgsc.bcm.edu	37	1	3680278	3680278	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:3680278G>T	ENST00000294600.2	+	8	1414	c.1330G>T	c.(1330-1332)Gcg>Tcg	p.A444S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	444										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGTGATTGCGTCTTTACA	0.592																																					p.A444S		Atlas-SNP	.											.	CCDC27	79	.	0			c.G1330T						.						118.0	119.0	119.0					1																	3680278		2203	4300	6503	SO:0001583	missense	148870	exon8			GTGATTGCGTCTT		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1330G>T	chr1.hg19:g.3680278G>T	ENSP00000294600:p.Ala444Ser	278.0	0.0		177.0	24.0	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	hg19	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	6.720	0.501505	0.12822	.	.	ENSG00000162592	ENST00000294600	T	0.17213	2.29	4.34	-0.00366	0.14025	.	1.053250	0.07414	N	0.892837	T	0.07818	0.0196	N	0.19112	0.55	0.09310	N	1	B	0.28470	0.213	B	0.25614	0.062	T	0.37865	-0.9687	10	0.13470	T	0.59	-5.0704	0.521	0.00612	0.4492:0.2079:0.1409:0.202	.	444	Q2M243	CCD27_HUMAN	S	444	ENSP00000294600:A444S	ENSP00000294600:A444S	A	+	1	0	CCDC27	3670138	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.481000	0.06552	0.197000	0.20387	0.462000	0.41574	GCG	.	.		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
NPHP4	261734	hgsc.bcm.edu	37	1	5967225	5967225	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:5967225T>A	ENST00000378156.4	-	13	1826	c.1561A>T	c.(1561-1563)Agg>Tgg	p.R521W	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	521					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTAGGCCTGGCCAAGCAG	0.642																																					p.R521W		Atlas-SNP	.											.	NPHP4	119	.	0			c.A1561T						.						22.0	28.0	26.0					1																	5967225		2017	4158	6175	SO:0001583	missense	261734	exon13			TAGGCCTGGCCAA	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1561A>T	chr1.hg19:g.5967225T>A	ENSP00000367398:p.Arg521Trp	149.0	0.0		101.0	49.0	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	hg19	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354257	0.61293	.	.	ENSG00000131697	ENST00000378156	D	0.87412	-2.25	5.5	1.88	0.25563	.	0.872145	0.09858	N	0.746582	D	0.84597	0.5507	L	0.36672	1.1	0.09310	N	1	D	0.58970	0.984	P	0.50192	0.634	T	0.72849	-0.4168	10	0.72032	D	0.01	.	8.0293	0.30454	0.0:0.3085:0.0:0.6915	.	521	O75161	NPHP4_HUMAN	W	521	ENSP00000367398:R521W	ENSP00000367398:R521W	R	-	1	2	NPHP4	5889812	0.064000	0.20934	0.010000	0.14722	0.052000	0.14988	0.387000	0.20718	0.064000	0.16427	0.402000	0.26972	AGG	.	.		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
TAS1R1	80835	hgsc.bcm.edu	37	1	6639185	6639185	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:6639185C>T	ENST00000333172.6	+	6	2260	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.A435A	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	689					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCAGCGGCCCAGCTGCTTA	0.532																																					p.A689A		Atlas-SNP	.											.	TAS1R1	76	.	0			c.C2067T						.						115.0	113.0	113.0					1																	6639185		2203	4300	6503	SO:0001819	synonymous_variant	80835	exon6			AGCGGCCCAGCTG		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2067C>T	chr1.hg19:g.6639185C>T		113.0	0.0		92.0	62.0	NM_138697	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	hg19	CCDS81.1																																																																																			.	.		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
SLC45A1	50651	hgsc.bcm.edu	37	1	8390821	8390821	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:8390821A>T	ENST00000471889.1	+	5	1653	c.1268A>T	c.(1267-1269)gAg>gTg	p.E423V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.E457V|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Missense_Mutation_p.E423V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	423					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCAGAGAGGGTGCCCTG	0.662																																					p.E423V		Atlas-SNP	.											.	SLC45A1	85	.	0			c.A1268T						.						36.0	38.0	37.0					1																	8390821		2203	4300	6503	SO:0001583	missense	50651	exon4			GCAGAGAGGGTGC	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1268A>T	chr1.hg19:g.8390821A>T	ENSP00000418096:p.Glu423Val	98.0	0.0		73.0	23.0	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	hg19	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	A	5.676	0.309337	0.10733	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.20463	2.09;2.07;2.09	4.9	3.7	0.42460	.	0.800538	0.11945	N	0.514319	T	0.18130	0.0435	L	0.34521	1.04	0.19945	N	0.999942	B	0.29085	0.232	B	0.31614	0.133	T	0.15321	-1.0441	10	0.29301	T	0.29	-13.1484	12.2004	0.54321	0.8475:0.1525:0.0:0.0	.	423	Q9Y2W3	S45A1_HUMAN	V	423;457;423	ENSP00000418096:E423V;ENSP00000366699:E457V;ENSP00000289877:E423V	ENSP00000289877:E423V	E	+	2	0	SLC45A1	8313408	0.940000	0.31905	0.049000	0.19019	0.037000	0.13140	2.000000	0.40816	1.816000	0.52996	0.459000	0.35465	GAG	.	.		0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
CLSTN1	22883	hgsc.bcm.edu	37	1	9795215	9795215	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:9795215G>A	ENST00000377298.4	-	14	2693	c.1901C>T	c.(1900-1902)aCc>aTc	p.T634I	CLSTN1_ENST00000377288.3_Missense_Mutation_p.T615I|CLSTN1_ENST00000361311.4_Missense_Mutation_p.T624I|CLSTN1_ENST00000477264.1_5'Flank	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	634					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGAAATGCAGGTGGCCTCGTT	0.582																																					p.T634I		Atlas-SNP	.											.	CLSTN1	88	.	0			c.C1901T						.						73.0	78.0	76.0					1																	9795215		2203	4300	6503	SO:0001583	missense	22883	exon14			ATGCAGGTGGCCT	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1901C>T	chr1.hg19:g.9795215G>A	ENSP00000366513:p.Thr634Ile	59.0	0.0		37.0	15.0	NM_001009566	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	hg19	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861282	0.51482	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.91	3.94	0.45596	.	0.690666	0.15711	N	0.248420	T	0.25121	0.0610	L	0.52573	1.65	0.29817	N	0.831175	B;B;B	0.27853	0.121;0.191;0.121	B;B;B	0.23275	0.02;0.045;0.02	T	0.15780	-1.0425	10	0.45353	T	0.12	-6.4901	6.6604	0.23011	0.0683:0.1278:0.6715:0.1324	.	615;624;634	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	I	634;624;435;615;615	ENSP00000366513:T634I;ENSP00000354997:T624I;ENSP00000401934:T435I;ENSP00000366502:T615I	ENSP00000354997:T624I	T	-	2	0	CLSTN1	9717802	1.000000	0.71417	0.490000	0.27465	0.975000	0.68041	5.517000	0.67061	1.504000	0.48704	0.655000	0.94253	ACC	.	.		0.582	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		
UBE4B	10277	hgsc.bcm.edu	37	1	10221232	10221232	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:10221232T>C	ENST00000253251.8	+	22	3538	c.2699T>C	c.(2698-2700)aTg>aCg	p.M900T	UBE4B_ENST00000377157.3_Missense_Mutation_p.M784T|RNU6-828P_ENST00000364876.1_RNA|UBE4B_ENST00000343090.6_Missense_Mutation_p.M1029T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TATATAAACATGTTGATAAAC	0.438																																					p.M1029T		Atlas-SNP	.											.	UBE4B	233	.	0			c.T3086C						.						117.0	114.0	115.0					1																	10221232		2203	4300	6503	SO:0001583	missense	10277	exon23			TAAACATGTTGAT	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2699T>C	chr1.hg19:g.10221232T>C	ENSP00000253251:p.Met900Thr	120.0	0.0		123.0	50.0	NM_001105562		Missense_Mutation	SNP	ENST00000253251.8	hg19	CCDS110.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222094	0.79464	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46819	0.86;0.86;0.86	5.4	5.4	0.78164	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.85373	2.75	0.80722	D	1	D;D	0.61697	0.99;0.974	P;P	0.62491	0.903;0.57	T	0.75717	-0.3220	10	0.66056	D	0.02	-23.1253	15.4578	0.75330	0.0:0.0:0.0:1.0	.	1029;900	O95155;O95155-2	UBE4B_HUMAN;.	T	900;784;1029	ENSP00000253251:M900T;ENSP00000366362:M784T;ENSP00000343001:M1029T	ENSP00000253251:M900T	M	+	2	0	UBE4B	10143819	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.033000	0.88852	2.053000	0.61076	0.460000	0.39030	ATG	.	.		0.438	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
PTCHD2	57540	hgsc.bcm.edu	37	1	11589857	11589857	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:11589857T>C	ENST00000294484.6	+	15	3081	c.2943T>C	c.(2941-2943)cgT>cgC	p.R981R	PTCHD2_ENST00000389575.3_Silent_p.R981R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	981					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCAAGGCCCGTCTCTCAGCCA	0.642																																					p.R981R		Atlas-SNP	.											.	PTCHD2	193	.	0			c.T2943C						.						56.0	63.0	61.0					1																	11589857		2037	4179	6216	SO:0001819	synonymous_variant	57540	exon15			GGCCCGTCTCTCA	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2943T>C	chr1.hg19:g.11589857T>C		79.0	0.0		63.0	35.0	NM_020780	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	hg19	CCDS41247.1																																																																																			.	.		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
MIIP	60672	hgsc.bcm.edu	37	1	12082339	12082339	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:12082339A>T	ENST00000235332.4	+	3	471	c.302A>T	c.(301-303)cAg>cTg	p.Q101L	MIIP_ENST00000436478.2_Missense_Mutation_p.Q101L|MIIP_ENST00000466860.1_3'UTR|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	101										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCAAATGCCAGCACCAGGAG	0.692																																					p.Q101L		Atlas-SNP	.											.	MIIP	34	.	0			c.A302T						.						44.0	48.0	47.0					1																	12082339		2203	4298	6501	SO:0001583	missense	60672	exon3			AATGCCAGCACCA	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.302A>T	chr1.hg19:g.12082339A>T	ENSP00000235332:p.Gln101Leu	128.0	0.0		86.0	51.0	NM_021933	C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	hg19	CCDS143.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767120	0.49574	.	.	ENSG00000116691	ENST00000235332;ENST00000436478	T;T	0.18502	2.21;2.21	4.49	-1.98	0.07480	.	1.311660	0.05150	N	0.495940	T	0.11793	0.0287	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.35325	-0.9793	10	0.48119	T	0.1	-0.1853	0.786	0.01049	0.4567:0.1535:0.227:0.1627	.	101	Q5JXC2	MIIP_HUMAN	L	101	ENSP00000235332:Q101L;ENSP00000392417:Q101L	ENSP00000235332:Q101L	Q	+	2	0	MIIP	12004926	0.000000	0.05858	0.003000	0.11579	0.727000	0.41649	-0.145000	0.10265	-0.469000	0.06911	0.482000	0.46254	CAG	.	.		0.692	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933	
VPS13D	55187	hgsc.bcm.edu	37	1	12567012	12567012	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:12567012A>G	ENST00000358136.3	+	69	13030	c.12900A>G	c.(12898-12900)ctA>ctG	p.L4300L	VPS13D_ENST00000356315.4_Silent_p.L4275L|VPS13D_ENST00000543710.1_Silent_p.L104L|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000543766.1_Silent_p.L298L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCATTTTCCTAGAAGTCAAAT	0.498																																					p.L4300L		Atlas-SNP	.											.	VPS13D	316	.	0			c.A12900G						.						127.0	120.0	123.0					1																	12567012		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon69			TTTCCTAGAAGTC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12900A>G	chr1.hg19:g.12567012A>G		130.0	0.0		105.0	37.0	NM_015378		Silent	SNP	ENST00000358136.3	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.473176	0.26423	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.88	-8.95	0.00765	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6306	0.17508	0.2103:0.2949:0.4213:0.0735	.	.	.	.	W	3122	.	.	X	+	2	0	VPS13D	12489599	0.890000	0.30428	0.766000	0.31476	0.998000	0.95712	-0.047000	0.11963	-1.582000	0.01640	0.533000	0.62120	TAG	.	.		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF2	65122	hgsc.bcm.edu	37	1	12921328	12921328	+	Silent	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:12921328G>C	ENST00000240189.2	+	4	1206	c.1119G>C	c.(1117-1119)ctG>ctC	p.L373L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	373					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(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGGCCTGAGCTGCTGCT	0.562																																					p.L373L		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.G1119C						.						110.0	117.0	115.0					1																	12921328		2201	4294	6495	SO:0001819	synonymous_variant	65122	exon4			TGGCCTGAGCTGC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1119G>C	chr1.hg19:g.12921328G>C		207.0	0.0		161.0	16.0	NM_023014		Silent	SNP	ENST00000240189.2	hg19	CCDS149.1																																																																																			.	.		0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PADI1	29943	hgsc.bcm.edu	37	1	17556654	17556654	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:17556654A>T	ENST00000375471.4	+	9	1096	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	335					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCAACTGCAAGCTGACCATC	0.537																																					p.K335M	Esophageal Squamous(80;414 1257 4580 27746 50832)	Atlas-SNP	.											.	PADI1	77	.	0			c.A1004T						.						101.0	95.0	97.0					1																	17556654		2203	4300	6503	SO:0001583	missense	29943	exon9			ACTGCAAGCTGAC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1004A>T	chr1.hg19:g.17556654A>T	ENSP00000364620:p.Lys335Met	56.0	0.0		50.0	15.0	NM_013358	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	hg19	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356562	0.41700	.	.	ENSG00000142623	ENST00000375471	T	0.26957	1.7	4.99	2.6	0.31112	Protein-arginine deiminase, C-terminal (1);	0.056441	0.64402	D	0.000001	T	0.50888	0.1642	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.51132	-0.8744	10	0.72032	D	0.01	-20.9056	8.7852	0.34816	0.8391:0.0:0.1609:0.0	.	335	Q9ULC6	PADI1_HUMAN	M	335	ENSP00000364620:K335M	ENSP00000364620:K335M	K	+	2	0	PADI1	17429241	0.993000	0.37304	0.988000	0.46212	0.111000	0.19643	3.010000	0.49559	0.316000	0.23135	0.383000	0.25322	AAG	.	.		0.537	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	
PAX7	5081	hgsc.bcm.edu	37	1	19071418	19071418	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:19071418T>G	ENST00000420770.2	+	9	1596	c.1513T>G	c.(1513-1515)Tac>Gac	p.Y505D		NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	0					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGGCCAGGCCTACTAGGGCCC	0.627			T	FOXO1A	alveolar rhabdomyosarcoma																																p.Y505D		Atlas-SNP	.		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	PAX7	127	.	0			c.T1513G						.						17.0	18.0	18.0					1																	19071418		1548	3517	5065	SO:0001583	missense	5081	exon9			CAGGCCTACTAGG	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.1513T>G	chr1.hg19:g.19071418T>G	ENSP00000403389:p.Tyr505Asp	131.0	0.0		112.0	45.0	NM_001135254	E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000420770.2	hg19	CCDS44074.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444650	0.83993	.	.	ENSG00000009709	ENST00000420770	D	0.95690	-3.78	5.01	5.01	0.66863	.	.	.	.	.	D	0.96775	0.8947	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.97288	0.9922	9	0.87932	D	0	.	13.5514	0.61734	0.0:0.0:0.0:1.0	.	505	E9PFV9	.	D	505	ENSP00000403389:Y505D	ENSP00000403389:Y505D	Y	+	1	0	PAX7	18944005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.206000	0.77891	1.881000	0.54492	0.533000	0.62120	TAC	.	.		0.627	PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372482.1	NM_002584	
KIF17	57576	hgsc.bcm.edu	37	1	21013989	21013989	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:21013989T>C	ENST00000247986.2	-	8	2140	c.1830A>G	c.(1828-1830)ctA>ctG	p.L610L	KIF17_ENST00000400463.3_Silent_p.L610L|KIF17_ENST00000375044.1_Silent_p.L510L|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	610					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGCAGGCCTAGTAACCCCT	0.667																																					p.L610L		Atlas-SNP	.											.	KIF17	130	.	0			c.A1830G						.						50.0	49.0	50.0					1																	21013989		2203	4300	6503	SO:0001819	synonymous_variant	57576	exon8			CAGGCCTAGTAAC	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1830A>G	chr1.hg19:g.21013989T>C		65.0	0.0		62.0	29.0	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	hg19	CCDS213.1																																																																																			.	.		0.667	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
LDLRAD2	401944	hgsc.bcm.edu	37	1	22141096	22141096	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:22141096C>A	ENST00000344642.2	+	2	478	c.291C>A	c.(289-291)aaC>aaA	p.N97K	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.N97K	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	97						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGGCGCTCAACACCTCCTCCC	0.766																																					p.N97K		Atlas-SNP	.											.	LDLRAD2	17	.	0			c.C291A						.						11.0	14.0	13.0					1																	22141096		2152	4223	6375	SO:0001583	missense	401944	exon2			GCTCAACACCTCC	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.291C>A	chr1.hg19:g.22141096C>A	ENSP00000340988:p.Asn97Lys	74.0	0.0		90.0	47.0	NM_001013693	B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	hg19	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729270	0.15507	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.45276	0.9;0.9	4.63	3.71	0.42584	CUB (2);	0.858076	0.09990	N	0.729920	T	0.29749	0.0743	L	0.40543	1.245	0.09310	N	1	B	0.29432	0.244	B	0.19666	0.026	T	0.18713	-1.0328	10	0.16896	T	0.51	-2.8124	7.4219	0.27077	0.0:0.798:0.0:0.202	.	97	Q5SZI1	LRAD2_HUMAN	K	97	ENSP00000340988:N97K;ENSP00000444097:N97K	ENSP00000340988:N97K	N	+	3	2	LDLRAD2	22013683	0.001000	0.12720	0.003000	0.11579	0.139000	0.21198	0.957000	0.29215	1.072000	0.40860	0.448000	0.29417	AAC	.	.		0.766	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693	
HNRNPR	10236	hgsc.bcm.edu	37	1	23637344	23637344	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:23637344C>A	ENST00000374612.1	-	11	1628	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	HNRNPR_ENST00000374616.3_Missense_Mutation_p.R505I|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R342I|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R502I|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R404I|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R464I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R363I	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	502	RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R502T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		tcctcctcctcttcctcttac	0.527																																					p.R505I		Atlas-SNP	.											HNRPR,mouth,carcinoma,0,2	HNRNPR	56	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)	c.G1514T						.						91.0	94.0	93.0					1																	23637344		2203	4299	6502	SO:0001583	missense	10236	exon11			CCTCCTCTTCCTC	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1505G>T	chr1.hg19:g.23637344C>A	ENSP00000363741:p.Arg502Ile	45.0	0.0		50.0	14.0	NM_001102398	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	hg19	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778884	0.49891	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.22743	1.94;1.94;1.94;2.23;2.79	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.80616	2.505	0.80722	D	1	P;P;P;P;P;P	0.50943	0.842;0.842;0.842;0.842;0.94;0.902	B;B;B;B;B;P	0.44811	0.272;0.272;0.272;0.272;0.272;0.461	T	0.13282	-1.0515	10	0.26408	T	0.33	-4.0137	17.0724	0.86578	0.0:1.0:0.0:0.0	.	342;464;363;482;502;505	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	I	505;502;502;464;342	ENSP00000363745:R505I;ENSP00000363741:R502I;ENSP00000304405:R502I;ENSP00000392799:R464I;ENSP00000415042:R342I	ENSP00000304405:R502I	R	-	2	0	HNRNPR	23509931	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.765000	0.85310	2.639000	0.89480	0.555000	0.69702	AGA	.	.		0.527	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	
CNR2	1269	hgsc.bcm.edu	37	1	24201051	24201051	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:24201051T>C	ENST00000374472.4	-	2	1218	c.1057A>G	c.(1057-1059)Aga>Gga	p.R353G	CNR2_ENST00000536471.1_Missense_Mutation_p.R353G	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	353					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCTAGATCTCTGGAATCTGGC	0.517																																					p.R353G		Atlas-SNP	.											.	CNR2	78	.	0			c.A1057G						.						86.0	99.0	94.0					1																	24201051		2203	4300	6503	SO:0001583	missense	1269	exon2			GATCTCTGGAATC	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.1057A>G	chr1.hg19:g.24201051T>C	ENSP00000363596:p.Arg353Gly	50.0	0.0		58.0	22.0	NM_001841	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	hg19	CCDS245.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520419	0.27211	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.79247	-1.25;-1.25	4.12	-1.36	0.09085	.	1.463340	0.04763	N	0.426559	T	0.57489	0.2057	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46721	-0.9171	10	0.02654	T	1	.	4.7693	0.13148	0.0:0.2894:0.1574:0.5533	.	353	P34972	CNR2_HUMAN	G	353	ENSP00000363596:R353G;ENSP00000442830:R353G	ENSP00000363596:R353G	R	-	1	2	CNR2	24073638	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.077000	0.14738	-0.044000	0.13491	-0.376000	0.06991	AGA	.	.		0.517	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841	
SRRM1	10250	hgsc.bcm.edu	37	1	24996026	24996026	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:24996026A>G	ENST00000323848.9	+	14	2467	c.2152A>G	c.(2152-2154)Act>Gct	p.T718A	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.T730A|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.T727A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	718	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GTCTCCAAGTACTAGGCCCAT	0.478																																					p.T718A	Ovarian(68;897 1494 3282 17478)	Atlas-SNP	.											.	SRRM1	81	.	0			c.A2152G						.						35.0	35.0	35.0					1																	24996026		2203	4297	6500	SO:0001583	missense	10250	exon14			CCAAGTACTAGGC	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2152A>G	chr1.hg19:g.24996026A>G	ENSP00000326261:p.Thr718Ala	327.0	0.0		243.0	115.0	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	hg19	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822716	0.32237	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.37752	1.18;1.18;1.18	5.7	3.32	0.38043	.	0.291019	0.29558	N	0.011803	T	0.22322	0.0538	N	0.22421	0.69	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.09377	0.004;0.002	T	0.04191	-1.0970	10	0.42905	T	0.14	-2.3967	7.4256	0.27096	0.5948:0.264:0.0:0.1412	.	730;718	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	A	718;730;727	ENSP00000326261:T718A;ENSP00000391430:T730A;ENSP00000363510:T727A	ENSP00000326261:T718A	T	+	1	0	SRRM1	24868613	0.999000	0.42202	0.999000	0.59377	0.825000	0.46686	2.556000	0.45862	0.397000	0.25310	0.460000	0.39030	ACT	.	.		0.478	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
ZDHHC18	84243	hgsc.bcm.edu	37	1	27177682	27177682	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:27177682A>T	ENST00000374142.4	+	6	991	c.896A>T	c.(895-897)cAc>cTc	p.H299L	ZDHHC18_ENST00000478902.1_3'UTR	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	299					cellular protein localization (GO:0034613)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TCAGGGTTTCACACGTACCTC	0.572																																					p.H299L		Atlas-SNP	.											.	ZDHHC18	20	.	0			c.A896T						.						200.0	163.0	176.0					1																	27177682		2203	4300	6503	SO:0001583	missense	84243	exon6			GGTTTCACACGTA	AK056427	CCDS30650.1	1p36.11	2008-05-02			ENSG00000204160	ENSG00000204160		"""Zinc fingers, DHHC-type"""	20712	protein-coding gene	gene with protein product							Standard	NM_032283		Approved	DKFZp667O2416	uc001bnb.3	Q9NUE0	OTTHUMG00000004092	ENST00000374142.4:c.896A>T	chr1.hg19:g.27177682A>T	ENSP00000363257:p.His299Leu	111.0	0.0		95.0	38.0	NM_032283	A6NHY9|B4DQ84|Q5JYH0|Q9H020	Missense_Mutation	SNP	ENST00000374142.4	hg19	CCDS30650.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628664	0.87560	.	.	ENSG00000204160	ENST00000374142;ENST00000374141	T;T	0.29142	1.58;1.58	4.98	3.86	0.44501	.	0.107650	0.64402	D	0.000006	T	0.70500	0.3231	H	0.99169	4.455	0.54753	D	0.999986	D	0.76494	0.999	D	0.83275	0.996	T	0.79787	-0.1656	10	0.87932	D	0	-7.9428	10.7464	0.46183	0.9255:0.0:0.0745:0.0	.	299	Q9NUE0	ZDH18_HUMAN	L	299;164	ENSP00000363257:H299L;ENSP00000363256:H164L	ENSP00000363256:H164L	H	+	2	0	ZDHHC18	27050269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.689000	0.91265	1.038000	0.40049	0.533000	0.62120	CAC	.	.		0.572	ZDHHC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011706.3	NM_032283	
TMEM222	84065	hgsc.bcm.edu	37	1	27648780	27648780	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:27648780A>T	ENST00000374076.4	+	1	130	c.92A>T	c.(91-93)gAg>gTg	p.E31V	RNU6-48P_ENST00000384161.1_RNA|TMEM222_ENST00000608611.1_5'UTR	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	31						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ACGGCGGCCGAGACGGACATG	0.687																																					p.E31V		Atlas-SNP	.											.	TMEM222	16	.	0			c.A92T						.						22.0	21.0	21.0					1																	27648780		2200	4296	6496	SO:0001583	missense	84065	exon1			CGGCCGAGACGGA	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.92A>T	chr1.hg19:g.27648780A>T	ENSP00000363189:p.Glu31Val	196.0	0.0		182.0	101.0	NM_032125	D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	hg19	CCDS297.2	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126051	0.56721	.	.	ENSG00000186501	ENST00000374076	.	.	.	4.41	2.02	0.26589	.	0.651645	0.13073	U	0.415936	T	0.40932	0.1137	L	0.43152	1.355	0.33437	D	0.581941	B	0.18013	0.025	B	0.20384	0.029	T	0.45991	-0.9223	9	0.37606	T	0.19	-1.5356	6.0531	0.19796	0.7842:0.0:0.2158:0.0	.	31	Q9H0R3	TM222_HUMAN	V	31	.	ENSP00000363189:E31V	E	+	2	0	TMEM222	27521367	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.890000	0.48609	0.744000	0.32741	-0.379000	0.06801	GAG	.	.		0.687	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125	
RCC1	1104	hgsc.bcm.edu	37	1	28864505	28864505	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:28864505A>G	ENST00000373833.6	+	13	1537	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	RCC1_ENST00000373831.3_Missense_Mutation_p.K449E|RCC1_ENST00000398958.2_Missense_Mutation_p.K418E|RCC1_ENST00000373832.1_Missense_Mutation_p.K418E			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	418					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCAAGGACAAAGAACAGAG	0.572																																					p.K449E		Atlas-SNP	.											.	RCC1	61	.	0			c.A1345G						.						54.0	52.0	52.0					1																	28864505		2203	4300	6503	SO:0001583	missense	1104	exon11			AAGGACAAAGAAC	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1252A>G	chr1.hg19:g.28864505A>G	ENSP00000362939:p.Lys418Glu	66.0	0.0		37.0	14.0	NM_001048194	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	hg19	CCDS323.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696363	0.48202	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.17	4.0	0.46444	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.187779	0.56097	D	0.000030	T	0.68118	0.2966	L	0.28192	0.835	0.38868	D	0.956622	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.62229	-0.6898	10	0.36615	T	0.2	-15.982	9.9057	0.41375	0.8283:0.1717:0.0:0.0	.	449;435;418	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	E	418;418;418;449	ENSP00000381931:K418E;ENSP00000362939:K418E;ENSP00000362938:K418E;ENSP00000362937:K449E	ENSP00000362937:K449E	K	+	1	0	RCC1	28737092	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.455000	0.52993	0.862000	0.35528	0.460000	0.39030	AAA	.	.		0.572	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
COL16A1	1307	hgsc.bcm.edu	37	1	32161363	32161363	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:32161363T>A	ENST00000373672.3	-	10	1460	c.944A>T	c.(943-945)gAg>gTg	p.E315V	COL16A1_ENST00000373668.3_Splice_Site_p.E315V|COL16A1_ENST00000271069.6_Splice_Site_p.E315V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	315	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GAGGCTTACCTCATCGGCTGC	0.627																																					p.E315V	Colon(143;498 1786 21362 25193 36625)	Atlas-SNP	.											.	COL16A1	137	.	0			c.A944T						.						32.0	37.0	35.0					1																	32161363		2041	4192	6233	SO:0001630	splice_region_variant	1307	exon10			CTTACCTCATCGG	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.945+1A>T	chr1.hg19:g.32161363T>A		130.0	0.0		86.0	38.0	NM_001856	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	hg19	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	t	18.41	3.618704	0.66787	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.91945	-2.63;-2.66;-2.69;-2.94	4.44	4.44	0.53790	.	0.539835	0.19611	N	0.110142	D	0.90202	0.6937	N	0.13198	0.31	0.29403	N	0.861777	D;D;D	0.76494	0.997;0.998;0.999	P;D;D	0.80764	0.897;0.987;0.994	T	0.83041	-0.0157	10	0.18710	T	0.47	.	10.4222	0.44356	0.0:0.0:0.0:1.0	.	315;315;315	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	V	315;315;315;43	ENSP00000362776:E315V;ENSP00000271069:E315V;ENSP00000362772:E315V;ENSP00000362771:E43V	ENSP00000271069:E315V	E	-	2	0	COL16A1	31933950	0.993000	0.37304	0.998000	0.56505	0.460000	0.32559	1.494000	0.35616	2.233000	0.73108	0.524000	0.50904	GAG	.	.		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Missense_Mutation
LCK	3932	hgsc.bcm.edu	37	1	32742349	32742349	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:32742349A>T	ENST00000336890.5	+	9	1064	c.926A>T	c.(925-927)cAg>cTg	p.Q309L	LCK_ENST00000373564.3_Missense_Mutation_p.Q316L|LCK_ENST00000333070.4_Missense_Mutation_p.Q309L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	309	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GTGGTCACCCAGGAGCCCATC	0.612			T	TRB@	T-ALL																																p.Q309L		Atlas-SNP	.		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	LCK	124	.	0			c.A926T						.						42.0	39.0	40.0					1																	32742349		2203	4300	6503	SO:0001583	missense	3932	exon9			TCACCCAGGAGCC	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.926A>T	chr1.hg19:g.32742349A>T	ENSP00000337825:p.Gln309Leu	60.0	0.0		45.0	31.0	NM_005356	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	hg19	CCDS359.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133382	0.77662	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000333070;ENST00000436824;ENST00000373564	T;T;D;T	0.82984	2.77;2.77;-1.67;2.77	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.79476	0.4452	L	0.41356	1.27	0.80722	D	1	B;B;B;B	0.27951	0.195;0.068;0.061;0.116	B;B;B;B	0.32583	0.148;0.106;0.087;0.065	T	0.79142	-0.1925	10	0.87932	D	0	.	14.8315	0.70151	1.0:0.0:0.0:0.0	.	353;316;309;309	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	309;49;258;309;353;316	ENSP00000337825:Q309L;ENSP00000435605:Q258L;ENSP00000328213:Q309L;ENSP00000362665:Q316L	ENSP00000328213:Q309L	Q	+	2	0	LCK	32514936	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.324000	0.79115	2.207000	0.71202	0.454000	0.30748	CAG	.	.		0.612	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
AZIN2	113451	hgsc.bcm.edu	37	1	33557811	33557811	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:33557811A>T	ENST00000294517.6	+	6	1027	c.440A>T	c.(439-441)cAc>cTc	p.H147L	ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.H147L|ADC_ENST00000398167.1_Missense_Mutation_p.H147L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.H147L|ADC_ENST00000358680.3_Intron	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		147					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GTAAAGAGCCACCCCAGTGCC	0.587																																					p.H147L		Atlas-SNP	.											.	ADC	38	.	0			c.A440T						.						58.0	58.0	58.0					1																	33557811		2203	4300	6503	SO:0001583	missense	113451	exon6			AGAGCCACCCCAG																												ENST00000294517.6:c.440A>T	chr1.hg19:g.33557811A>T	ENSP00000294517:p.His147Leu	219.0	0.0		166.0	69.0	NM_052998	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	hg19	CCDS375.1	.	.	.	.	.	.	.	.	.	.	a	24.7	4.559838	0.86335	.	.	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.47869	0.83;0.83;0.87;0.87	5.4	4.27	0.50696	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.072359	0.56097	D	0.000024	T	0.66848	0.2831	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.65815	0.97;0.964;0.995;0.995	P;P;D;D	0.67900	0.736;0.796;0.954;0.927	T	0.70252	-0.4923	10	0.87932	D	0	-10.8888	11.0346	0.47793	0.926:0.0:0.074:0.0	.	147;147;52;147	Q96A70-2;Q96A70-3;D3DPR0;Q96A70	.;.;.;ADC_HUMAN	L	147	ENSP00000294517:H147L;ENSP00000362542:H147L;ENSP00000381233:H147L;ENSP00000362540:H147L	ENSP00000294517:H147L	H	+	2	0	ADC	33330398	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.311000	0.96282	1.004000	0.39156	0.529000	0.55759	CAC	.	.		0.587	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1		
PHC2	1912	hgsc.bcm.edu	37	1	33836103	33836103	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:33836103A>T	ENST00000257118.5	-	4	548	c.495T>A	c.(493-495)gcT>gcA	p.A165A	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.A165A|PHC2_ENST00000419414.2_Silent_p.A165A	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	165					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGCCTGCTGAGCGATGCCTG	0.597																																					p.A165A		Atlas-SNP	.											.	PHC2	78	.	0			c.T495A						.						81.0	67.0	72.0					1																	33836103		2203	4300	6503	SO:0001819	synonymous_variant	1912	exon4			CTGCTGAGCGATG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.495T>A	chr1.hg19:g.33836103A>T		56.0	0.0		51.0	20.0	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	hg19	CCDS378.1																																																																																			.	.		0.597	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
CSMD2	114784	hgsc.bcm.edu	37	1	34123600	34123600	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:34123600A>T	ENST00000373380.1	-	6	1232	c.1012T>A	c.(1012-1014)Tgt>Agt	p.C338S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.C1465S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1425						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)				ATCTTCACACAGCTGATCTCT	0.587																																					p.C1425S		Atlas-SNP	.											.	CSMD2	946	.	0			c.T4273A						.						124.0	115.0	118.0					1																	34123600		2203	4300	6503	SO:0001583	missense	114784	exon27			TCACACAGCTGAT	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1012T>A	chr1.hg19:g.34123600A>T	ENSP00000362478:p.Cys338Ser	81.0	0.0		52.0	26.0	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	hg19		.	.	.	.	.	.	.	.	.	.	a	32	5.158802	0.94686	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	D;D	0.92595	-3.07;-3.07	5.78	5.78	0.91487	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	H	0.99740	4.74	0.80722	D	1	D;P;P	0.64830	0.994;0.926;0.942	D;P;P	0.83275	0.996;0.679;0.677	D	0.99597	1.0977	10	0.87932	D	0	.	15.2982	0.73925	1.0:0.0:0.0:0.0	.	338;1425;1465	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	S	1465;338	ENSP00000362479:C1465S;ENSP00000362478:C338S	ENSP00000241312:C1425S	C	-	1	0	CSMD2	33896187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.209000	0.71365	0.456000	0.33151	TGT	.	.		0.587	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	hgsc.bcm.edu	37	1	34128580	34128580	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:34128580T>A	ENST00000373380.1	-	5	1004	c.784A>T	c.(784-786)Aag>Tag	p.K262*	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Nonsense_Mutation_p.K1389*			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1349	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCAGGTCCTTGGGCAGGGCC	0.582																																					p.K1349X		Atlas-SNP	.											.	CSMD2	946	.	0			c.A4045T						.						103.0	96.0	98.0					1																	34128580		2203	4300	6503	SO:0001587	stop_gained	114784	exon26			GGTCCTTGGGCAG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.784A>T	chr1.hg19:g.34128580T>A	ENSP00000362478:p.Lys262*	136.0	0.0		96.0	56.0	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373380.1	hg19		.	.	.	.	.	.	.	.	.	.	T	45	11.754381	0.99599	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	.	.	.	5.64	1.67	0.24075	.	0.581837	0.17899	N	0.158244	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	1.7038	0.02878	0.1422:0.1191:0.2931:0.4455	.	.	.	.	X	1389;262	.	ENSP00000241312:K1349X	K	-	1	0	CSMD2	33901167	0.940000	0.31905	1.000000	0.80357	0.906000	0.53458	1.172000	0.31908	0.501000	0.28013	0.459000	0.35465	AAG	.	.		0.582	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
GJA4	2701	hgsc.bcm.edu	37	1	35259856	35259856	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:35259856C>A	ENST00000342280.4	+	2	130	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	14					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGACCAGGTCCAGGAGCACT	0.627																																					p.V14V		Atlas-SNP	.											.	GJA4	25	.	0			c.C42A						.						85.0	76.0	79.0					1																	35259856		2203	4300	6503	SO:0001819	synonymous_variant	2701	exon2			CCAGGTCCAGGAG	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.42C>A	chr1.hg19:g.35259856C>A		84.0	0.0		79.0	30.0	NM_002060	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	hg19	CCDS30669.1																																																																																			.	.		0.627	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060	
AGO1	26523	hgsc.bcm.edu	37	1	36383941	36383941	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:36383941A>G	ENST00000373204.4	+	17	2395	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	AGO1_ENST00000373206.1_Missense_Mutation_p.I653V	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	728	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAGTGGTAACATCCCAGCTGG	0.507																																					p.I728V		Atlas-SNP	.											.	.	.	.	0			c.A2182G						.						317.0	294.0	302.0					1																	36383941		2203	4300	6503	SO:0001583	missense	26523	exon17			GGTAACATCCCAG	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2182A>G	chr1.hg19:g.36383941A>G	ENSP00000362300:p.Ile728Val	135.0	0.0		108.0	47.0	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	hg19	CCDS398.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.764526	0.49574	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.28454	1.61;1.61	5.61	5.61	0.85477	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.16166	0.38	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.03202	-1.1061	10	0.39692	T	0.17	-11.9591	16.0994	0.81158	1.0:0.0:0.0:0.0	.	728	Q9UL18	AGO1_HUMAN	V	653;728	ENSP00000362302:I653V;ENSP00000362300:I728V	ENSP00000362300:I728V	I	+	1	0	EIF2C1	36156528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ATC	.	.		0.507	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
TEKT2	27285	hgsc.bcm.edu	37	1	36551473	36551473	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:36551473A>T	ENST00000207457.3	+	4	446	c.319A>T	c.(319-321)Aac>Tac	p.N107Y		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	107					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGGCCAAGAACCTGCCTCT	0.582																																					p.N107Y		Atlas-SNP	.											.	TEKT2	32	.	0			c.A319T						.						51.0	49.0	50.0					1																	36551473		2203	4300	6503	SO:0001583	missense	27285	exon4			GCCAAGAACCTGC	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.319A>T	chr1.hg19:g.36551473A>T	ENSP00000207457:p.Asn107Tyr	154.0	0.0		115.0	43.0	NM_014466	A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	hg19	CCDS401.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133820	0.77662	.	.	ENSG00000092850	ENST00000207457	T	0.02606	4.23	5.79	4.67	0.58626	.	0.253204	0.46145	D	0.000310	T	0.10423	0.0255	M	0.65975	2.015	0.44500	D	0.997446	D	0.62365	0.991	P	0.60541	0.876	T	0.00461	-1.1725	10	0.62326	D	0.03	.	11.2519	0.49031	0.9292:0.0:0.0708:0.0	.	107	Q9UIF3	TEKT2_HUMAN	Y	107	ENSP00000207457:N107Y	ENSP00000207457:N107Y	N	+	1	0	TEKT2	36324060	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.362000	0.59467	2.207000	0.71202	0.533000	0.62120	AAC	.	.		0.582	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466	
MTF1	4520	hgsc.bcm.edu	37	1	38288109	38288109	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:38288109T>C	ENST00000373036.4	-	9	1591	c.1451A>G	c.(1450-1452)gAg>gGg	p.E484G		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	484	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGGAAGAAACTCTTGATGATT	0.572																																					p.E484G		Atlas-SNP	.											.	MTF1	67	.	0			c.A1451G						.						43.0	41.0	42.0					1																	38288109		2203	4300	6503	SO:0001583	missense	4520	exon9			AGAAACTCTTGAT	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1451A>G	chr1.hg19:g.38288109T>C	ENSP00000362127:p.Glu484Gly	81.0	0.0		55.0	28.0	NM_005955	B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	hg19	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477573	0.63849	.	.	ENSG00000188786	ENST00000373036	T	0.10860	2.83	6.17	6.17	0.99709	.	0.096357	0.64402	D	0.000001	T	0.12817	0.0311	L	0.51422	1.61	0.41362	D	0.987435	P	0.43094	0.799	B	0.35931	0.214	T	0.01232	-1.1411	10	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	484	Q14872	MTF1_HUMAN	G	484	ENSP00000362127:E484G	ENSP00000362127:E484G	E	-	2	0	MTF1	38060696	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.410000	0.52664	2.371000	0.80710	0.533000	0.62120	GAG	.	.		0.572	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
COL9A2	1298	hgsc.bcm.edu	37	1	40769263	40769263	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:40769263C>T	ENST00000372748.3	-	28	1583	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	496	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TCCTCGAGGGCCGGGGGGACC	0.721																																					p.G496D		Atlas-SNP	.											COL9A2,NS,carcinoma,0,1	COL9A2	63	.	0			c.G1487A						.						8.0	10.0	9.0					1																	40769263		2148	4200	6348	SO:0001583	missense	1298	exon28			CGAGGGCCGGGGG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1487G>A	chr1.hg19:g.40769263C>T	ENSP00000361834:p.Gly496Asp	36.0	0.0		41.0	20.0	NM_001852	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	hg19	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.014876|2.014876	0.35511|0.35511	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000427563|ENST00000372748	.|D	.|0.99619	.|-6.28	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99764|0.99764	0.9904|0.9904	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96923|0.96923	0.9675|0.9675	6|10	0.66056|0.87932	D|D	0.02|0	.|.	14.3509|14.3509	0.66702|0.66702	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|496	.|Q14055	.|CO9A2_HUMAN	T|D	100|496	.|ENSP00000361834:G496D	ENSP00000407377:A100T|ENSP00000361834:G496D	A|G	-|-	1|2	0|0	COL9A2|COL9A2	40541850|40541850	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.146000|0.146000	0.21551|0.21551	5.846000|5.846000	0.69444|0.69444	2.247000|2.247000	0.74100|0.74100	0.462000|0.462000	0.41574|0.41574	GCC|GGC	.	.		0.721	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	
COL9A2	1298	hgsc.bcm.edu	37	1	40777173	40777173	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:40777173A>G	ENST00000372748.3	-	10	614	c.518T>C	c.(517-519)cTg>cCg	p.L173P		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	173	Nonhelical region 4 (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GTCTCTCACCAGGAAATCCGC	0.657																																					p.L173P		Atlas-SNP	.											.	COL9A2	63	.	0			c.T518C						.						57.0	60.0	59.0					1																	40777173		2203	4300	6503	SO:0001630	splice_region_variant	1298	exon10			CTCACCAGGAAAT	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.519+1T>C	chr1.hg19:g.40777173A>G		65.0	0.0		46.0	20.0	NM_001852	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	hg19	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.854983	0.51376	.	.	ENSG00000049089	ENST00000372748	D	0.94828	-3.53	5.56	4.42	0.53409	.	0.069694	0.64402	D	0.000020	D	0.92054	0.7482	N	0.20766	0.605	0.58432	D	0.999998	D	0.71674	0.998	P	0.59115	0.852	D	0.88558	0.3121	10	0.23302	T	0.38	.	8.9936	0.36039	0.8358:0.0:0.0:0.1642	.	173	Q14055	CO9A2_HUMAN	P	173	ENSP00000361834:L173P	ENSP00000361834:L173P	L	-	2	0	COL9A2	40549760	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.744000	0.47450	0.916000	0.36871	0.460000	0.39030	CTG	.	.		0.657	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Missense_Mutation
COL9A2	1298	hgsc.bcm.edu	37	1	40777786	40777786	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:40777786T>A	ENST00000372748.3	-	8	460		c.e8-2			NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGGAGGCCCCTGGGGAGCAGA	0.577																																					.		Atlas-SNP	.											.	COL9A2	63	.	0			c.364-2A>T						.						27.0	29.0	29.0					1																	40777786		2202	4299	6501	SO:0001630	splice_region_variant	1298	exon9			GGCCCCTGGGGAG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.364-2A>T	chr1.hg19:g.40777786T>A		88.0	0.0		63.0	22.0	NM_001852	B2RMP9	Splice_Site	SNP	ENST00000372748.3	hg19	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.826760	0.32329	.	.	ENSG00000049089	ENST00000372748;ENST00000417105;ENST00000372736	.	.	.	5.5	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4426	0.38677	0.0:0.0:0.179:0.821	.	.	.	.	.	-1	.	.	.	-	.	.	COL9A2	40550373	1.000000	0.71417	0.897000	0.35233	0.259000	0.26198	5.703000	0.68340	0.885000	0.36088	0.533000	0.62120	.	.	.		0.577	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron
HIVEP3	59269	hgsc.bcm.edu	37	1	41990547	41990547	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:41990547C>T	ENST00000372583.1	-	6	6127	c.5242G>A	c.(5242-5244)Ggc>Agc	p.G1748S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1748S|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G1748S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1748S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1748					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGCCGCGGCCTCGCACATAT	0.507																																					p.G1748S		Atlas-SNP	.											.	HIVEP3	235	.	0			c.G5242A						.						131.0	113.0	119.0					1																	41990547		2203	4300	6503	SO:0001583	missense	59269	exon6			CGCGGCCTCGCAC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5242G>A	chr1.hg19:g.41990547C>T	ENSP00000361664:p.Gly1748Ser	108.0	0.0		93.0	46.0	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	hg19	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393475	0.96009	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.10099	2.92;2.91;2.91;2.92	4.85	4.85	0.62838	.	0.000000	0.50627	D	0.000101	T	0.36826	0.0981	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.18304	-1.0341	10	0.56958	D	0.05	-19.6194	17.7486	0.88428	0.0:1.0:0.0:0.0	.	1748;1748	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1748	ENSP00000361665:G1748S;ENSP00000361664:G1748S;ENSP00000247584:G1748S;ENSP00000410828:G1748S	ENSP00000247584:G1748S	G	-	1	0	HIVEP3	41763134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.520000	0.84964	0.561000	0.74099	GGC	.	.		0.507	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
SZT2	23334	hgsc.bcm.edu	37	1	43908181	43908181	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:43908181G>T	ENST00000562955.1	+	57	7872	c.7872G>T	c.(7870-7872)ctG>ctT	p.L2624L	SZT2_ENST00000372442.1_Silent_p.L1782L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2681					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGGTTCGCCTGGTGCAGTGGC	0.602																																					p.L2624L		Atlas-SNP	.											.	SZT2	383	.	0			c.G7872T						.						72.0	74.0	73.0					1																	43908181		2203	4300	6503	SO:0001819	synonymous_variant	23334	exon57			TCGCCTGGTGCAG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7872G>T	chr1.hg19:g.43908181G>T		66.0	0.0		67.0	28.0	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	hg19	CCDS30694.2																																																																																			.	.		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
ERI3	79033	hgsc.bcm.edu	37	1	44713653	44713653	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:44713653C>A	ENST00000372257.2	-	8	1070	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	ERI3_ENST00000372259.5_Missense_Mutation_p.G182C|ERI3_ENST00000537474.1_Missense_Mutation_p.G120C	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	297	Exonuclease.						exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGCTGAGGCCCTTGTTCATG	0.612																																					p.G297C		Atlas-SNP	.											.	ERI3	39	.	0			c.G889T						.						113.0	101.0	105.0					1																	44713653		2203	4300	6503	SO:0001583	missense	79033	exon8			TGAGGCCCTTGTT	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.889G>T	chr1.hg19:g.44713653C>A	ENSP00000361331:p.Gly297Cys	74.0	0.0		64.0	29.0	NM_024066	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	hg19	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272009	0.80469	.	.	ENSG00000117419	ENST00000372257;ENST00000372259;ENST00000456170;ENST00000537474;ENST00000433471;ENST00000372253	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.1	5.1	0.69264	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.278923	0.31415	N	0.007682	T	0.39989	0.1099	L	0.38175	1.15	0.50039	D	0.999847	D	0.65815	0.995	P	0.61132	0.884	T	0.18272	-1.0342	10	0.54805	T	0.06	.	18.518	0.90942	0.0:1.0:0.0:0.0	.	297	O43414	ERI3_HUMAN	C	297;182;164;120;179;191	ENSP00000361331:G297C;ENSP00000361333:G182C;ENSP00000390710:G164C;ENSP00000438360:G120C	ENSP00000361327:G191C	G	-	1	0	ERI3	44486240	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.222000	0.65277	2.379000	0.81126	0.655000	0.94253	GGC	.	.		0.612	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	
STIL	6491	hgsc.bcm.edu	37	1	47717102	47717102	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:47717102T>C	ENST00000360380.3	-	18	3933	c.3570A>G	c.(3568-3570)gcA>gcG	p.A1190A	STIL_ENST00000371877.3_Silent_p.A1191A|STIL_ENST00000337817.5_Silent_p.A1190A|STIL_ENST00000243182.6_Silent_p.A1190A|STIL_ENST00000396221.2_Silent_p.A1173A	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1190					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGGCGTATCTGCGTTGGTCC	0.383																																					p.A1191A		Atlas-SNP	.											.	STIL	91	.	0			c.A3573G						.						95.0	94.0	94.0					1																	47717102		2203	4300	6503	SO:0001819	synonymous_variant	6491	exon17			CGTATCTGCGTTG	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3570A>G	chr1.hg19:g.47717102T>C		97.0	0.0		85.0	44.0	NM_001048166	Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	hg19	CCDS548.1																																																																																			.	.		0.383	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
SPATA6	54558	hgsc.bcm.edu	37	1	48764441	48764441	+	Missense_Mutation	SNP	T	T	A	rs374515413		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:48764441T>A	ENST00000371847.3	-	13	1575	c.1411A>T	c.(1411-1413)Agg>Tgg	p.R471W	SPATA6_ENST00000396199.3_Missense_Mutation_p.R399W|SPATA6_ENST00000371843.3_Missense_Mutation_p.R455W	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	471					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TATAAGTTCCTGTACATCTTG	0.438																																					p.R471W		Atlas-SNP	.											.	SPATA6	45	.	0			c.A1411T						.						169.0	168.0	168.0					1																	48764441		2203	4300	6503	SO:0001583	missense	54558	exon13			AGTTCCTGTACAT	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1411A>T	chr1.hg19:g.48764441T>A	ENSP00000360913:p.Arg471Trp	111.0	0.0		79.0	23.0	NM_019073	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	hg19	CCDS551.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096325	0.76870	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.13089	2.63;2.62;2.62	4.78	4.78	0.61160	.	0.141252	0.50627	D	0.000107	T	0.25419	0.0618	L	0.36672	1.1	0.40543	D	0.981044	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.77004	0.989;0.924;0.924	T	0.01844	-1.1262	10	0.72032	D	0.01	.	10.6281	0.45519	0.0:0.0:0.0:1.0	.	399;455;471	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	W	471;455;399	ENSP00000360913:R471W;ENSP00000360909:R455W;ENSP00000379502:R399W	ENSP00000360909:R455W	R	-	1	2	SPATA6	48537028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.943000	0.49026	2.002000	0.58637	0.460000	0.39030	AGG	.	.		0.438	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073	
EPS15	2060	hgsc.bcm.edu	37	1	51864724	51864724	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:51864724T>C	ENST00000371733.3	-	20	2128	c.2032A>G	c.(2032-2034)Aac>Gac	p.N678D	EPS15_ENST00000371730.2_Missense_Mutation_p.N544D|EPS15_ENST00000396122.4_Missense_Mutation_p.N355D	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	678	15 X 3 AA repeats of D-P-F.				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?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTGCTATTGTTGGCTGCACTG	0.378			T	MLL	ALL																																p.N678D		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	EPS15	72	.	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.A2032G						.						128.0	119.0	122.0					1																	51864724		2203	4300	6503	SO:0001583	missense	2060	exon20			TATTGTTGGCTGC	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.2032A>G	chr1.hg19:g.51864724T>C	ENSP00000360798:p.Asn678Asp	49.0	0.0		46.0	21.0	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	hg19	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	5.571	0.290179	0.10567	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.16743	2.32;2.32;2.32	5.34	5.34	0.76211	.	.	.	.	.	T	0.08088	0.0202	N	0.08118	0	0.23851	N	0.996663	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.31861	-0.9928	9	0.07813	T	0.8	.	9.9886	0.41856	0.0:0.0789:0.0:0.9211	.	544;678;364	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	D	544;678;355	ENSP00000360795:N544D;ENSP00000360798:N678D;ENSP00000379428:N355D	ENSP00000360795:N544D	N	-	1	0	EPS15	51637312	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	1.854000	0.39368	2.026000	0.59711	0.402000	0.26972	AAC	.	.		0.378	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
MROH7	374977	hgsc.bcm.edu	37	1	55119680	55119680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:55119680A>T	ENST00000421030.2	+	3	1366	c.1081A>T	c.(1081-1083)Aag>Tag	p.K361*	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Nonsense_Mutation_p.K361*|MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.K361*|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Nonsense_Mutation_p.K361*	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	361						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGATGATGCCAAGGACAACAG	0.567																																					p.K361X		Atlas-SNP	.											.	.	.	.	0			c.A1081T						.						81.0	80.0	80.0					1																	55119680		2121	4229	6350	SO:0001587	stop_gained	374977	exon3			GATGCCAAGGACA	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1081A>T	chr1.hg19:g.55119680A>T	ENSP00000396622:p.Lys361*	121.0	0.0		95.0	53.0	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Nonsense_Mutation	SNP	ENST00000421030.2	hg19	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	A	38	6.777012	0.97829	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	.	.	.	3.89	2.98	0.34508	.	0.195026	0.25355	N	0.031263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	7.5019	0.27522	0.1171:0.0:0.8829:0.0	.	.	.	.	X	361	.	ENSP00000343211:K361X	K	+	1	0	HEATR8	54892268	0.991000	0.36638	0.829000	0.32907	0.307000	0.27823	1.510000	0.35790	1.237000	0.43756	-0.132000	0.14878	AAG	.	.		0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
MROH7	374977	hgsc.bcm.edu	37	1	55174688	55174688	+	Splice_Site	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:55174688G>A	ENST00000421030.2	+	23	3954	c.3669G>A	c.(3667-3669)ggG>ggA	p.G1223G	MROH7_ENST00000454855.2_Splice_Site_p.G741G|MROH7_ENST00000409996.1_Splice_Site_p.G791G|MROH7-TTC4_ENST00000414150.2_Splice_Site_p.G1223G	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1223						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACGCTCAAGGGTCCCTGGTCC	0.517																																					p.G1223G		Atlas-SNP	.											.	.	.	.	0			c.G3669A						.						128.0	124.0	125.0					1																	55174688		1906	4104	6010	SO:0001630	splice_region_variant	374977	exon23			TCAAGGGTCCCTG	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3668-1G>A	chr1.hg19:g.55174688G>A		76.0	0.0		46.0	28.0	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	hg19	CCDS41342.2																																																																																			.	.		0.517	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	Silent
INADL	10207	hgsc.bcm.edu	37	1	62456026	62456026	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:62456026A>T	ENST00000371158.2	+	28	3971	c.3857A>T	c.(3856-3858)gAa>gTa	p.E1286V	INADL_ENST00000543708.1_Missense_Mutation_p.E70V|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.E1286V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1286	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATTGGAGATGAACTCTTAGAG	0.448																																					p.E1286V		Atlas-SNP	.											.	INADL	179	.	0			c.A3857T						.						71.0	69.0	70.0					1																	62456026		2203	4300	6503	SO:0001583	missense	10207	exon28			GAGATGAACTCTT	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3857A>T	chr1.hg19:g.62456026A>T	ENSP00000360200:p.Glu1286Val	76.0	0.0		95.0	39.0	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294620	0.81025	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.73	5.73	0.89815	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.49525	0.1562	M	0.62088	1.915	0.80722	D	1	P;D;D;D;D	0.89917	0.563;0.999;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.618;0.998;1.0;1.0;0.999	T	0.48043	-0.9069	10	0.56958	D	0.05	.	16.0234	0.80516	1.0:0.0:0.0:0.0	.	70;745;1286;1286;1286	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	V	1286;1286;1286;1286;70;70	ENSP00000360200:E1286V;ENSP00000326199:E1286V;ENSP00000307496:E70V;ENSP00000445790:E70V	ENSP00000307496:E70V	E	+	2	0	INADL	62228614	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.225000	0.95219	2.172000	0.68678	0.533000	0.62120	GAA	.	.		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
KANK4	163782	hgsc.bcm.edu	37	1	62733992	62733992	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:62733992G>A	ENST00000371153.4	-	5	2576	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	KANK4_ENST00000371150.1_Missense_Mutation_p.P89L|KANK4_ENST00000354381.3_Missense_Mutation_p.P105L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	733						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCTTCCCCAGGCCCACTTTC	0.587																																					p.P733L		Atlas-SNP	.											.	KANK4	135	.	0			c.C2198T						.						53.0	46.0	49.0					1																	62733992		2203	4300	6503	SO:0001583	missense	163782	exon5			TCCCCAGGCCCAC	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2198C>T	chr1.hg19:g.62733992G>A	ENSP00000360195:p.Pro733Leu	73.0	0.0		56.0	25.0	NM_181712	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	hg19	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657672	0.29425	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.48836	0.8;0.82;0.83	5.84	2.96	0.34315	.	1.118330	0.06952	N	0.814761	T	0.46444	0.1393	M	0.68952	2.095	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35649	-0.9780	10	0.30854	T	0.27	-0.3211	8.1634	0.31211	0.1399:0.1289:0.7312:0.0	.	105;733	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	L	733;105;89	ENSP00000360195:P733L;ENSP00000346352:P105L;ENSP00000360192:P89L	ENSP00000346352:P105L	P	-	2	0	KANK4	62506580	0.001000	0.12720	0.018000	0.16275	0.211000	0.24417	0.715000	0.25822	0.476000	0.27440	0.650000	0.86243	CCT	.	.		0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
CACHD1	57685	hgsc.bcm.edu	37	1	65142576	65142576	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:65142576A>G	ENST00000371073.2	+	22	2975		c.e22-1		CACHD1_ENST00000290039.5_Splice_Site|CACHD1_ENST00000495994.1_Splice_Site			Q5VU97	CAHD1_HUMAN	cache domain containing 1						calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTGCACAGAAACCCCAG	0.542																																					.		Atlas-SNP	.											.	CACHD1	125	.	0			c.2823-2A>G						.						134.0	132.0	133.0					1																	65142576		2203	4300	6503	SO:0001630	splice_region_variant	57685	exon22			CTGCACAGAAACC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2976-1A>G	chr1.hg19:g.65142576A>G		197.0	0.0		202.0	90.0	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Splice_Site	SNP	ENST00000371073.2	hg19		.	.	.	.	.	.	.	.	.	.	A	23.5	4.421323	0.83559	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1205	0.81351	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACHD1	64915164	1.000000	0.71417	0.990000	0.47175	0.869000	0.49853	8.720000	0.91442	2.205000	0.71048	0.533000	0.62120	.	.	.		0.542	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	Intron
DNAJC6	9829	hgsc.bcm.edu	37	1	65852603	65852603	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:65852603A>G	ENST00000395325.3	+	8	1090	c.933A>G	c.(931-933)ctA>ctG	p.L311L	DNAJC6_ENST00000371069.4_Silent_p.L368L|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Silent_p.L298L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	311	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGAGCCGGCTACAGGCTAAGG	0.433																																					p.L368L		Atlas-SNP	.											.	DNAJC6	104	.	0			c.A1104G						.						120.0	108.0	112.0					1																	65852603		2203	4300	6503	SO:0001819	synonymous_variant	9829	exon8			CCGGCTACAGGCT	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.933A>G	chr1.hg19:g.65852603A>G		122.0	0.0		118.0	47.0	NM_001256864	B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	ENST00000395325.3	hg19	CCDS30739.1																																																																																			.	.		0.433	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1		
SGIP1	84251	hgsc.bcm.edu	37	1	67148048	67148048	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:67148048C>T	ENST00000371037.4	+	15	1388	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Silent_p.T441T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	437	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CGGGGACCACCAGTGGTATGT	0.617																																					p.T437T		Atlas-SNP	.											.	SGIP1	272	.	0			c.C1311T						.						115.0	128.0	123.0					1																	67148048		2188	4284	6472	SO:0001819	synonymous_variant	84251	exon15			GACCACCAGTGGT	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1311C>T	chr1.hg19:g.67148048C>T		162.0	0.0		159.0	60.0	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	hg19	CCDS30744.1																																																																																			.	.		0.617	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
IL23R	149233	hgsc.bcm.edu	37	1	67666515	67666515	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:67666515T>A	ENST00000347310.5	+	5	758	c.587T>A	c.(586-588)gTc>gAc	p.V196D	IL23R_ENST00000371002.1_Missense_Mutation_p.V196D|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	196	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTGGTTTGGGTCCAAGCAGCA	0.373																																					p.V196D		Atlas-SNP	.											.	IL23R	52	.	0			c.T587A						.						145.0	143.0	143.0					1																	67666515		2203	4300	6503	SO:0001583	missense	149233	exon5			TTTGGGTCCAAGC	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.587T>A	chr1.hg19:g.67666515T>A	ENSP00000321345:p.Val196Asp	203.0	0.0		196.0	101.0	NM_144701	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	hg19	CCDS637.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393858	0.62066	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000540911;ENST00000371002;ENST00000543799	T;T	0.58797	0.31;0.31	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.983;0.998;0.998;0.999;1.0;0.999	T	0.77742	-0.2474	10	0.87932	D	0	-26.2341	12.8155	0.57663	0.0:0.0:0.0:1.0	.	50;55;55;50;103;196;196	B6HY71;E9PHX4;E9PG12;B6HY79;B6VNT7;Q5VWK5-3;Q5VWK5	.;.;.;.;.;.;IL23R_HUMAN	D	196;55;55;55;196;151	ENSP00000321345:V196D;ENSP00000360041:V196D	ENSP00000321345:V196D	V	+	2	0	IL23R	67439103	0.999000	0.42202	0.953000	0.39169	0.441000	0.31987	4.051000	0.57412	2.279000	0.76181	0.533000	0.62120	GTC	.	.		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
LRRC7	57554	hgsc.bcm.edu	37	1	70502271	70502271	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:70502271C>T	ENST00000035383.5	+	18	2168	c.2138C>T	c.(2137-2139)gCt>gTt	p.A713V	LRRC7_ENST00000310961.5_Missense_Mutation_p.A718V|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	713						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A713V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGACAACAGCTAAAGATGCA	0.433																																					p.A713V		Atlas-SNP	.											LRRC7,NS,carcinoma,0,1	LRRC7	400	.	1	Substitution - Missense(1)	lung(1)	c.C2138T						.						135.0	148.0	144.0					1																	70502271		2203	4300	6503	SO:0001583	missense	57554	exon18			CAACAGCTAAAGA		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2138C>T	chr1.hg19:g.70502271C>T	ENSP00000035383:p.Ala713Val	115.0	1.0		132.0	61.0	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	hg19	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057789	0.55325	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38887	1.11;1.19	5.77	5.77	0.91146	.	0.475464	0.25132	N	0.032896	T	0.27027	0.0662	L	0.47716	1.5	0.80722	D	1	B	0.18741	0.03	B	0.18561	0.022	T	0.02925	-1.1093	10	0.27082	T	0.32	.	19.335	0.94312	0.0:1.0:0.0:0.0	.	713	Q96NW7	LRRC7_HUMAN	V	718;713;536	ENSP00000309245:A718V;ENSP00000035383:A713V	ENSP00000035383:A713V	A	+	2	0	LRRC7	70274859	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.433000	0.52834	2.890000	0.99128	0.650000	0.86243	GCT	.	.		0.433	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC40	55631	hgsc.bcm.edu	37	1	70616864	70616864	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:70616864T>G	ENST00000370952.3	-	13	1543	c.1464A>C	c.(1462-1464)ccA>ccC	p.P488P		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	488						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CCATTTCTTCTGGCAAAGAAT	0.259																																					p.P488P		Atlas-SNP	.											.	LRRC40	66	.	0			c.A1464C						.						48.0	49.0	49.0					1																	70616864		2198	4289	6487	SO:0001819	synonymous_variant	55631	exon13			TTCTTCTGGCAAA		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1464A>C	chr1.hg19:g.70616864T>G		244.0	0.0		240.0	97.0	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	hg19	CCDS646.1																																																																																			.	.		0.259	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
PTGER3	5733	hgsc.bcm.edu	37	1	71418661	71418661	+	3'UTR	SNP	T	T	G	rs568967213	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:71418661T>G	ENST00000414819.1	-	0	1508				PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000351052.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000356595.4_Silent_p.R396R	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	ATTTCTTCTCTGTTCAGCACA	0.408																																					p.R396R		Atlas-SNP	.											.	PTGER3	246	.	0			c.A1186C						.						247.0	225.0	233.0					1																	71418661		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733	exon4			CTTCTCTGTTCAG	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*105A>C	chr1.hg19:g.71418661T>G		55.0	0.0		42.0	13.0	NM_198718	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000414819.1	hg19	CCDS656.1																																																																																			.	.		0.408	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	
ERICH3	127254	hgsc.bcm.edu	37	1	75065565	75065565	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:75065565T>C	ENST00000326665.5	-	11	1758	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.N317D	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		514	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTCATTAGATTTTTCA	0.353																																					p.N514D		Atlas-SNP	.											.	C1orf173	380	.	0			c.A1540G						.						186.0	193.0	191.0					1																	75065565		2203	4300	6503	SO:0001583	missense	127254	exon11			CTTCATTAGATTT																												ENST00000326665.5:c.1540A>G	chr1.hg19:g.75065565T>C	ENSP00000322609:p.Asn514Asp	123.0	0.0		110.0	54.0	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	hg19	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	2.599	-0.293396	0.05568	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17854	2.68;2.25	6.05	3.76	0.43208	.	.	.	.	.	T	0.05593	0.0147	L	0.41824	1.3	0.24342	N	0.994952	B;B	0.33448	0.096;0.412	B;B	0.39152	0.062;0.292	T	0.41484	-0.9506	9	0.13108	T	0.6	-7.604	9.5872	0.39524	0.0:0.1438:0.0:0.8562	.	317;514	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	D	514;317	ENSP00000322609:N514D;ENSP00000398581:N317D	ENSP00000322609:N514D	N	-	1	0	C1orf173	74838153	1.000000	0.71417	0.113000	0.21522	0.001000	0.01503	2.925000	0.48884	0.551000	0.29008	-0.256000	0.11100	AAT	.	.		0.353	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
LPAR3	23566	hgsc.bcm.edu	37	1	85331282	85331282	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:85331282A>C	ENST00000440886.1	-	1	560	c.522T>G	c.(520-522)tcT>tcG	p.S174S	LPAR3_ENST00000370611.3_Silent_p.S174S|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	174					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGAGCAGGCAGAGATGTTGC	0.537																																					p.S174S		Atlas-SNP	.											.	LPAR3	53	.	0			c.T522G						.						111.0	107.0	109.0					1																	85331282		2203	4300	6503	SO:0001819	synonymous_variant	23566	exon2			GCAGGCAGAGATG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.522T>G	chr1.hg19:g.85331282A>C		99.0	0.0		98.0	39.0	NM_012152	A0AVA3	Silent	SNP	ENST00000440886.1	hg19	CCDS700.1																																																																																			.	.		0.537	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
SYDE2	84144	hgsc.bcm.edu	37	1	85647970	85647970	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:85647970T>C	ENST00000341460.5	-	3	2404	c.2355A>G	c.(2353-2355)agA>agG	p.R785R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	785					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AAATAAGACCTCTAGGTTCAA	0.368																																					p.R785R		Atlas-SNP	.											.	SYDE2	135	.	0			c.A2355G						.						92.0	82.0	85.0					1																	85647970		1834	4086	5920	SO:0001819	synonymous_variant	84144	exon3			AAGACCTCTAGGT	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2355A>G	chr1.hg19:g.85647970T>C		209.0	0.0		181.0	10.0	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	hg19	CCDS44169.1																																																																																			.	.		0.368	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
CLCA1	1179	hgsc.bcm.edu	37	1	86961307	86961307	+	Missense_Mutation	SNP	G	G	T	rs566492008		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:86961307G>T	ENST00000234701.3	+	13	2413	c.2062G>T	c.(2062-2064)Gtg>Ttg	p.V688L	CLCA1_ENST00000394711.1_Missense_Mutation_p.V688L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	688					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAGACGGAGAGTGATACCCCA	0.458																																					p.V688L		Atlas-SNP	.											.	CLCA1	109	.	0			c.G2062T						.						91.0	89.0	89.0					1																	86961307		2203	4300	6503	SO:0001583	missense	1179	exon12			CGGAGAGTGATAC		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2062G>T	chr1.hg19:g.86961307G>T	ENSP00000234701:p.Val688Leu	95.0	0.0		87.0	43.0	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	hg19	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673550	0.03403	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02763	4.17;4.17	5.45	-8.0	0.01126	.	1.930170	0.02560	N	0.096619	T	0.00300	0.0009	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44436	-0.9328	10	0.05525	T	0.97	8.9942	2.1359	0.03762	0.415:0.0756:0.2379:0.2715	.	688	A8K7I4	CLCA1_HUMAN	L	688	ENSP00000234701:V688L;ENSP00000378200:V688L	ENSP00000234701:V688L	V	+	1	0	CLCA1	86733895	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.493000	0.06459	-1.135000	0.02895	-0.137000	0.14449	GTG	.	.		0.458	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
ZNF644	84146	hgsc.bcm.edu	37	1	91403139	91403139	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:91403139T>A	ENST00000370440.1	-	4	3808	c.3591A>T	c.(3589-3591)acA>acT	p.T1197T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.T1197T|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTTCTTGCTGTCTGATTAT	0.363																																					p.T1197T		Atlas-SNP	.											.	ZNF644	120	.	0			c.A3591T						.						104.0	103.0	103.0					1																	91403139		2203	4300	6503	SO:0001819	synonymous_variant	84146	exon4			TCTTGCTGTCTGA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3591A>T	chr1.hg19:g.91403139T>A		109.0	0.0		71.0	27.0	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	hg19	CCDS731.1																																																																																			.	.		0.363	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ZNF644	84146	hgsc.bcm.edu	37	1	91405810	91405810	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:91405810T>A	ENST00000370440.1	-	3	1318	c.1101A>T	c.(1099-1101)ccA>ccT	p.P367P	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.P367P|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CACACTTATCTGGGTTATAAA	0.368																																					p.P367P		Atlas-SNP	.											.	ZNF644	120	.	0			c.A1101T						.						116.0	115.0	115.0					1																	91405810		2203	4300	6503	SO:0001819	synonymous_variant	84146	exon3			CTTATCTGGGTTA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1101A>T	chr1.hg19:g.91405810T>A		86.0	0.0		90.0	32.0	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	hg19	CCDS731.1																																																																																			.	.		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ZNF644	84146	hgsc.bcm.edu	37	1	91406111	91406111	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:91406111T>A	ENST00000370440.1	-	3	1017	c.800A>T	c.(799-801)cAa>cTa	p.Q267L	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267L|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATAAGAAATTGAATGAACTC	0.343																																					p.Q267L		Atlas-SNP	.											.	ZNF644	120	.	0			c.A800T						.						101.0	100.0	100.0					1																	91406111		2202	4300	6502	SO:0001583	missense	84146	exon3			AGAAATTGAATGA	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.800A>T	chr1.hg19:g.91406111T>A	ENSP00000359469:p.Gln267Leu	91.0	0.0		79.0	42.0	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.853565	0.51270	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00634	6.07;6.07	6.03	6.03	0.97812	.	0.062813	0.64402	D	0.000003	T	0.00328	0.0010	L	0.29908	0.895	0.51012	D	0.999908	P	0.42827	0.791	B	0.32677	0.15	T	0.79035	-0.1968	10	0.72032	D	0.01	-1.2057	15.1292	0.72507	0.0:0.0:0.0:1.0	.	267	Q9H582	ZN644_HUMAN	L	267	ENSP00000359469:Q267L;ENSP00000337008:Q267L	ENSP00000337008:Q267L	Q	-	2	0	ZNF644	91178699	1.000000	0.71417	0.992000	0.48379	0.769000	0.43574	4.302000	0.59092	2.308000	0.77769	0.533000	0.62120	CAA	.	.		0.343	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
HFM1	164045	hgsc.bcm.edu	37	1	91859872	91859872	+	Missense_Mutation	SNP	T	T	A	rs201897123		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:91859872T>A	ENST00000370425.3	-	4	370	c.272A>T	c.(271-273)cAg>cTg	p.Q91L	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	91					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGGCAAACTGGAATTTTTG	0.313																																					p.Q91L		Atlas-SNP	.											.	HFM1	188	.	0			c.A272T						.						71.0	68.0	69.0					1																	91859872		2202	4298	6500	SO:0001583	missense	164045	exon4			GCAAACTGGAATT	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.272A>T	chr1.hg19:g.91859872T>A	ENSP00000359454:p.Gln91Leu	173.0	0.0		170.0	71.0	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	hg19	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	4.837	0.155600	0.09236	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444;ENST00000455133	T;T;T	0.60672	0.17;1.34;1.39	4.37	4.37	0.52481	.	.	.	.	.	T	0.23926	0.0579	L	0.29908	0.895	0.48901	D	0.99972	B;B	0.16166	0.016;0.002	B;B	0.12156	0.007;0.002	T	0.09079	-1.0691	9	0.14656	T	0.56	.	10.2526	0.43377	0.0:0.0:0.0:1.0	.	91;91	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	91;124;49;91	ENSP00000359454:Q91L;ENSP00000388900:Q49L;ENSP00000409827:Q91L	ENSP00000359454:Q91L	Q	-	2	0	HFM1	91632460	0.873000	0.30073	0.040000	0.18447	0.013000	0.08279	2.308000	0.43690	1.765000	0.52091	0.383000	0.25322	CAG	.	T|0.999;C|0.001		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
BRDT	676	hgsc.bcm.edu	37	1	92442752	92442752	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:92442752T>C	ENST00000362005.3	+	7	1189	c.771T>C	c.(769-771)tcT>tcC	p.S257S	BRDT_ENST00000399546.2_Silent_p.S257S|BRDT_ENST00000402388.1_Silent_p.S257S|BRDT_ENST00000394530.3_Silent_p.S211S|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000370389.2_Silent_p.S184S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	257					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGCCAGATTCTCAGCAACAAT	0.333																																					p.S261S		Atlas-SNP	.											.	BRDT	133	.	0			c.T783C						.						69.0	66.0	67.0					1																	92442752		2203	4300	6503	SO:0001819	synonymous_variant	676	exon6			AGATTCTCAGCAA	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.771T>C	chr1.hg19:g.92442752T>C		238.0	0.0		202.0	78.0	NM_001242806	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	hg19	CCDS735.1																																																																																			.	.		0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
VCAM1	7412	hgsc.bcm.edu	37	1	101186271	101186271	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:101186271A>T	ENST00000294728.2	+	2	405	c.304A>T	c.(304-306)Agg>Tgg	p.R102W	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.R102W|VCAM1_ENST00000347652.2_Missense_Mutation_p.R102W	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	102	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTGTGAATCTAGGAAATTGGA	0.383																																					p.R102W		Atlas-SNP	.											.	VCAM1	111	.	0			c.A304T						.						91.0	86.0	88.0					1																	101186271		2203	4300	6503	SO:0001583	missense	7412	exon2			GAATCTAGGAAAT	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.304A>T	chr1.hg19:g.101186271A>T	ENSP00000294728:p.Arg102Trp	112.0	0.0		111.0	52.0	NM_001078	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	hg19	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529938	0.45073	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	T;T;T	0.67523	-0.27;-0.27;-0.27	5.82	-11.6	0.00059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.234750	0.05058	N	0.479322	T	0.39172	0.1068	L	0.44542	1.39	0.09310	N	1	P;P	0.49185	0.915;0.92	B;P	0.47044	0.19;0.535	T	0.58891	-0.7556	9	.	.	.	11.4014	12.4172	0.55500	0.6523:0.1478:0.2:0.0	.	102;102	P19320-2;P19320	.;VCAM1_HUMAN	W	102	ENSP00000304611:R102W;ENSP00000294728:R102W;ENSP00000359133:R102W	.	R	+	1	2	VCAM1	100958859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.372000	0.01073	-2.931000	0.00300	-0.408000	0.06270	AGG	.	.		0.383	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
OLFM3	118427	hgsc.bcm.edu	37	1	102270334	102270334	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:102270334A>G	ENST00000338858.5	-	6	896	c.897T>C	c.(895-897)aaT>aaC	p.N299N	OLFM3_ENST00000370103.4_Silent_p.N279N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	299	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGAGTGAGCCATTGTAGACAA	0.418																																					p.N279N		Atlas-SNP	.											.	OLFM3	178	.	0			c.T837C						.						98.0	95.0	96.0					1																	102270334		2203	4299	6502	SO:0001819	synonymous_variant	118427	exon6			TGAGCCATTGTAG	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.897T>C	chr1.hg19:g.102270334A>G		104.0	0.0		90.0	45.0	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	hg19																																																																																				.	.		0.418	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1		
COL11A1	1301	hgsc.bcm.edu	37	1	103461545	103461545	+	Splice_Site	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:103461545C>T	ENST00000370096.3	-	27	2607	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	COL11A1_ENST00000358392.2_Splice_Site_p.K777K|COL11A1_ENST00000512756.1_Splice_Site_p.K649K|COL11A1_ENST00000353414.4_Splice_Site_p.K726K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	765	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.K765N(1)|p.K777N(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTAACGTTACCTTTACTCCCC	0.398																																					p.K777K		Atlas-SNP	.											COL11A1_ENST00000370096,NS,carcinoma,0,2	COL11A1	972	.	2	Substitution - Missense(2)	lung(2)	c.G2331A						.						49.0	55.0	53.0					1																	103461545		2202	4298	6500	SO:0001630	splice_region_variant	1301	exon27			CGTTACCTTTACT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2295+1G>A	chr1.hg19:g.103461545C>T		181.0	0.0		153.0	64.0	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	hg19	CCDS778.1																																																																																			.	.		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent
COL11A1	1301	hgsc.bcm.edu	37	1	103484377	103484377	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:103484377A>T	ENST00000370096.3	-	10	1659	c.1347T>A	c.(1345-1347)ccT>ccA	p.P449P	COL11A1_ENST00000358392.2_Silent_p.P461P|COL11A1_ENST00000512756.1_Silent_p.P333P|COL11A1_ENST00000353414.4_Silent_p.P410P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	449	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACATACTGCAGGTCCTGCTG	0.328																																					p.P461P		Atlas-SNP	.											.	COL11A1	972	.	0			c.T1383A						.						54.0	56.0	55.0					1																	103484377		2203	4300	6503	SO:0001819	synonymous_variant	1301	exon10			TACTGCAGGTCCT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1347T>A	chr1.hg19:g.103484377A>T		547.0	1.0		506.0	252.0	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	hg19	CCDS778.1																																																																																			.	.		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
FAM102B	284611	hgsc.bcm.edu	37	1	109171192	109171192	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:109171192A>T	ENST00000370035.3	+	8	1168	c.828A>T	c.(826-828)tcA>tcT	p.S276S	FAM102B_ENST00000405454.1_Silent_p.S276S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	276										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ATACAGCTTCAGAAAAACTCA	0.289																																					p.S276S		Atlas-SNP	.											.	FAM102B	49	.	0			c.A828T						.						46.0	52.0	50.0					1																	109171192		2198	4297	6495	SO:0001819	synonymous_variant	284611	exon8			AGCTTCAGAAAAA	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.828A>T	chr1.hg19:g.109171192A>T		129.0	0.0		128.0	65.0	NM_001010883	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Silent	SNP	ENST00000370035.3	hg19	CCDS30786.2																																																																																			.	.		0.289	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883	
STXBP3	6814	hgsc.bcm.edu	37	1	109321954	109321954	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:109321954C>A	ENST00000370008.3	+	9	781	c.731C>A	c.(730-732)cCt>cAt	p.P244H	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	244	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGCTTTGATCCTGTGTCCACT	0.373																																					p.P244H		Atlas-SNP	.											.	STXBP3	44	.	0			c.C731A						.						214.0	203.0	207.0					1																	109321954		2203	4300	6503	SO:0001583	missense	6814	exon9			TTGATCCTGTGTC	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.731C>A	chr1.hg19:g.109321954C>A	ENSP00000359025:p.Pro244His	90.0	0.0		96.0	42.0	NM_007269	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	hg19	CCDS790.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080558	0.94050	.	.	ENSG00000116266	ENST00000370008	T	0.80033	-1.33	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90118	0.4197	10	0.66056	D	0.02	-15.1857	19.5865	0.95492	0.0:1.0:0.0:0.0	.	244	O00186	STXB3_HUMAN	H	244	ENSP00000359025:P244H	ENSP00000359025:P244H	P	+	2	0	STXBP3	109123477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.723000	0.93209	0.655000	0.94253	CCT	.	.		0.373	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	
WDR47	22911	hgsc.bcm.edu	37	1	109553760	109553760	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:109553760T>C	ENST00000369962.3	-	5	1130	c.908A>G	c.(907-909)cAa>cGa	p.Q303R	WDR47_ENST00000361054.3_Missense_Mutation_p.Q275R|WDR47_ENST00000369965.4_Missense_Mutation_p.Q303R|WDR47_ENST00000357672.3_Missense_Mutation_p.Q275R|WDR47_ENST00000400794.3_Missense_Mutation_p.Q310R			O94967	WDR47_HUMAN	WD repeat domain 47	303					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATCAGCTGATTGAGGTCTTCT	0.443																																					p.Q310R		Atlas-SNP	.											.	WDR47	56	.	0			c.A929G						.						263.0	282.0	275.0					1																	109553760		2203	4296	6499	SO:0001583	missense	22911	exon5			GCTGATTGAGGTC	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.908A>G	chr1.hg19:g.109553760T>C	ENSP00000358979:p.Gln303Arg	101.0	0.0		77.0	29.0	NM_001142550	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	hg19	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436798	0.25900	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.52057	0.68;0.72;0.7;0.69;0.7	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	N	0.11313	0.125	0.80722	D	1	P;P;P;D	0.57899	0.557;0.651;0.651;0.981	B;B;B;D	0.70487	0.234;0.165;0.165;0.969	T	0.23013	-1.0200	10	0.05833	T	0.94	-10.4104	15.2955	0.73902	0.0:0.0:0.0:1.0	.	275;310;303;303	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	R	310;303;275;303;275	ENSP00000383599:Q310R;ENSP00000358979:Q303R;ENSP00000354339:Q275R;ENSP00000358982:Q303R;ENSP00000350301:Q275R	ENSP00000350301:Q275R	Q	-	2	0	WDR47	109355283	1.000000	0.71417	0.999000	0.59377	0.736000	0.42039	7.698000	0.84413	2.005000	0.58758	0.383000	0.25322	CAA	.	.		0.443	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
PSRC1	84722	hgsc.bcm.edu	37	1	109824547	109824547	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:109824547T>G	ENST00000438534.2	-	4	351	c.213A>C	c.(211-213)ccA>ccC	p.P71P	PSRC1_ENST00000369904.3_Silent_p.P71P|PSRC1_ENST00000409138.2_Silent_p.P71P|PSRC1_ENST00000369903.2_Silent_p.P71P|PSRC1_ENST00000409267.1_Silent_p.P71P|PSRC1_ENST00000369909.2_Silent_p.P71P|PSRC1_ENST00000369907.3_Silent_p.P71P	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	71					microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCAGCTTCTCTGGACTGAGGG	0.667																																					p.P71P		Atlas-SNP	.											.	PSRC1	12	.	0			c.A213C						.						22.0	23.0	22.0					1																	109824547		2202	4296	6498	SO:0001819	synonymous_variant	84722	exon4			CTTCTCTGGACTG		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.213A>C	chr1.hg19:g.109824547T>G		136.0	0.0		114.0	43.0	NM_001032291	Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Silent	SNP	ENST00000438534.2	hg19																																																																																				.	.		0.667	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636	
KCNA3	3738	hgsc.bcm.edu	37	1	111216504	111216504	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:111216504G>T	ENST00000369769.2	-	1	1151	c.928C>A	c.(928-930)Ctg>Atg	p.L310M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	310					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGCACCAGCAGTTCGAAGGAG	0.547																																					p.L310M		Atlas-SNP	.											.	KCNA3	91	.	0			c.C928A						.						86.0	85.0	86.0					1																	111216504		2203	4300	6503	SO:0001583	missense	3738	exon1			CCAGCAGTTCGAA	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.928C>A	chr1.hg19:g.111216504G>T	ENSP00000358784:p.Leu310Met	47.0	0.0		68.0	33.0	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	hg19	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055898	0.55325	.	.	ENSG00000177272	ENST00000369769	D	0.97378	-4.36	5.26	4.34	0.51931	Ion transport (1);	0.000000	0.64402	U	0.000006	D	0.98425	0.9476	M	0.92026	3.265	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.99425	1.0934	10	0.87932	D	0	.	13.6853	0.62513	0.075:0.0:0.925:0.0	.	310	P22001	KCNA3_HUMAN	M	310	ENSP00000358784:L310M	ENSP00000358784:L310M	L	-	1	2	KCNA3	111018027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.716000	0.61916	1.203000	0.43233	0.655000	0.94253	CTG	.	.		0.547	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
AMPD1	270	hgsc.bcm.edu	37	1	115218238	115218238	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:115218238T>A	ENST00000520113.2	-	12	1706	c.1691A>T	c.(1690-1692)cAg>cTg	p.Q564L	AMPD1_ENST00000369538.3_Missense_Mutation_p.Q560L|AMPD1_ENST00000353928.6_Missense_Mutation_p.Q531L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	564					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGTCCACTCCTGGGGCTTGGG	0.463																																					p.Q564L		Atlas-SNP	.											.	AMPD1	223	.	0			c.A1691T						.						203.0	194.0	197.0					1																	115218238		2203	4300	6503	SO:0001583	missense	270	exon12			CACTCCTGGGGCT	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1691A>T	chr1.hg19:g.115218238T>A	ENSP00000430075:p.Gln564Leu	50.0	0.0		58.0	31.0	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	hg19	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848590	0.71603	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.81078	-1.45;-1.45;-1.45	5.68	5.68	0.88126	Adenosine/AMP deaminase (1);	0.264640	0.43579	D	0.000541	T	0.58708	0.2141	N	0.11560	0.145	0.44619	D	0.99759	B;B	0.32653	0.379;0.052	B;B	0.37198	0.243;0.088	T	0.67818	-0.5572	10	0.52906	T	0.07	-4.8988	15.938	0.79729	0.0:0.0:0.0:1.0	.	560;531	Q5TF02;P23109	.;AMPD1_HUMAN	L	564;560;531	ENSP00000430075:Q564L;ENSP00000358551:Q560L;ENSP00000316520:Q531L	ENSP00000316520:Q531L	Q	-	2	0	AMPD1	115019761	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.302000	0.72788	2.167000	0.68274	0.459000	0.35465	CAG	.	.		0.463	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
CSDE1	7812	hgsc.bcm.edu	37	1	115275369	115275369	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:115275369T>A	ENST00000358528.4	-	10	1332	c.906A>T	c.(904-906)aaA>aaT	p.K302N	CSDE1_ENST00000530886.1_Missense_Mutation_p.K172N|CSDE1_ENST00000261443.5_Missense_Mutation_p.K271N|CSDE1_ENST00000534699.1_Missense_Mutation_p.K302N|CSDE1_ENST00000339438.6_Missense_Mutation_p.K271N|CSDE1_ENST00000438362.2_Missense_Mutation_p.K348N|CSDE1_ENST00000369530.1_Missense_Mutation_p.K317N	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	302	CSD 4; truncated.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTCGTATCTTTGTCTCCAA	0.428																																					p.K348N		Atlas-SNP	.											.	CSDE1	145	.	0			c.A1044T						.						163.0	161.0	161.0					1																	115275369		2203	4300	6503	SO:0001583	missense	7812	exon11			CGTATCTTTGTCT		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.906A>T	chr1.hg19:g.115275369T>A	ENSP00000351329:p.Lys302Asn	237.0	0.0		220.0	106.0	NM_001242891	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	hg19	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180098	0.78564	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	L	0.43923	1.385	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.78314	0.991;0.981;0.991	T	0.65730	-0.6097	9	0.62326	D	0.03	-10.8722	12.1125	0.53848	0.0:0.0686:0.0:0.9314	.	317;302;348	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	271;348;302;271;172;317;302	.	ENSP00000261443:K271N	K	-	3	2	CSDE1	115076892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.040000	0.49799	2.247000	0.74100	0.482000	0.46254	AAA	.	.		0.428	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
NGF	4803	hgsc.bcm.edu	37	1	115829387	115829387	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:115829387T>A	ENST00000369512.2	-	3	198	c.30A>T	c.(28-30)acA>acT	p.T10T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	10					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCAGAAAAGCTGTGATCAGAG	0.483																																					p.T10T		Atlas-SNP	.											.	NGF	43	.	0			c.A30T						.						130.0	108.0	116.0					1																	115829387		2203	4300	6503	SO:0001819	synonymous_variant	4803	exon3			AAAAGCTGTGATC		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.30A>T	chr1.hg19:g.115829387T>A		85.0	0.0		63.0	31.0	NM_002506	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	hg19	CCDS882.1																																																																																			.	.		0.483	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
CASQ2	845	hgsc.bcm.edu	37	1	116244009	116244009	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:116244009A>T	ENST00000261448.5	-	11	1292	c.1053T>A	c.(1051-1053)gaT>gaA	p.D351E	CASQ2_ENST00000456138.2_Missense_Mutation_p.D280E	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	351					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGTTGGAAGATCGTCATCAT	0.453																																					p.D351E		Atlas-SNP	.											.	CASQ2	54	.	0			c.T1053A						.						124.0	101.0	109.0					1																	116244009		2203	4300	6503	SO:0001583	missense	845	exon11			TGGAAGATCGTCA	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1053T>A	chr1.hg19:g.116244009A>T	ENSP00000261448:p.Asp351Glu	105.0	0.0		97.0	39.0	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	hg19	CCDS884.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484502	0.44147	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79454	-1.27;-1.27	6.16	4.25	0.50352	Thioredoxin-like fold (2);	0.042999	0.85682	D	0.000000	T	0.63129	0.2485	M	0.67700	2.07	0.50632	D	0.999884	B;B	0.28783	0.222;0.011	B;B	0.33620	0.167;0.059	T	0.61347	-0.7081	10	0.30854	T	0.27	-30.8445	9.8212	0.40883	0.2105:0.0:0.7895:0.0	.	280;351	B4DIB0;O14958	.;CASQ2_HUMAN	E	351;280;305	ENSP00000261448:D351E;ENSP00000403858:D280E	ENSP00000261448:D351E	D	-	3	2	CASQ2	116045532	1.000000	0.71417	0.999000	0.59377	0.270000	0.26580	2.501000	0.45389	0.934000	0.37316	-0.182000	0.12963	GAT	.	.		0.453	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
NHLH2	4808	hgsc.bcm.edu	37	1	116380638	116380638	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:116380638A>T	ENST00000369506.1	-	1	5900	c.356T>A	c.(355-357)cTg>cAg	p.L119Q	NHLH2_ENST00000320238.3_Missense_Mutation_p.L119Q			Q02577	HEN2_HUMAN	nescient helix loop helix 2	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCCAGGCGCAGGATCTCGAT	0.662																																					p.L119Q		Atlas-SNP	.											.	NHLH2	8	.	0			c.T356A						.						27.0	31.0	30.0					1																	116380638		2203	4300	6503	SO:0001583	missense	4808	exon2			AGGCGCAGGATCT		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.356T>A	chr1.hg19:g.116380638A>T	ENSP00000358519:p.Leu119Gln	46.0	0.0		50.0	19.0	NM_001111061	Q5T1P6	Missense_Mutation	SNP	ENST00000369506.1	hg19	CCDS885.1	.	.	.	.	.	.	.	.	.	.	A	32	5.108858	0.94292	.	.	ENSG00000177551	ENST00000320238;ENST00000369506	D;D	0.99828	-6.99;-6.99	5.14	5.14	0.70334	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000016	D	0.99854	0.9932	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.96446	0.9330	10	0.87932	D	0	-12.937	14.6357	0.68689	1.0:0.0:0.0:0.0	.	119	Q02577	HEN2_HUMAN	Q	119	ENSP00000322087:L119Q;ENSP00000358519:L119Q	ENSP00000322087:L119Q	L	-	2	0	NHLH2	116182161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.095000	0.94175	1.936000	0.56123	0.454000	0.30748	CTG	.	.		0.662	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599	
TTF2	8458	hgsc.bcm.edu	37	1	117618107	117618107	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:117618107A>T	ENST00000369466.4	+	5	945	c.901A>T	c.(901-903)Ata>Tta	p.I301L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	301					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGGCCCTAGCATACAGGCCAC	0.582																																					p.I301L		Atlas-SNP	.											.	TTF2	92	.	0			c.A901T						.						52.0	55.0	54.0					1																	117618107		2203	4300	6503	SO:0001583	missense	8458	exon5			CCTAGCATACAGG	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.901A>T	chr1.hg19:g.117618107A>T	ENSP00000358478:p.Ile301Leu	157.0	0.0		162.0	80.0	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	hg19	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276673	0.23307	.	.	ENSG00000116830	ENST00000369466	D	0.85955	-2.05	4.99	-9.98	0.00438	.	1.663620	0.03680	N	0.245316	T	0.32406	0.0828	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.44251	-0.9340	10	0.19147	T	0.46	2.4815	0.5856	0.00719	0.2324:0.1922:0.2909:0.2845	.	301;301	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	L	301	ENSP00000358478:I301L	ENSP00000358478:I301L	I	+	1	0	TTF2	117419630	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.713000	0.00816	-1.693000	0.01427	-0.496000	0.04628	ATA	.	.		0.582	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
RNF115	27246	hgsc.bcm.edu	37	1	145663367	145663367	+	Splice_Site	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:145663367G>C	ENST00000369291.5	+	4	632	c.428G>C	c.(427-429)gGa>gCa	p.G143A		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						GCTATTGAAGGGTGAGTTGTT	0.408																																					p.G143A		Atlas-SNP	.											.	RNF115	27	.	0			c.G428C						.						66.0	65.0	65.0					1																	145663367		2203	4300	6503	SO:0001630	splice_region_variant	27246	exon4			TTGAAGGGTGAGT	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.428+1G>C	chr1.hg19:g.145663367G>C		77.0	0.0		125.0	43.0	NM_014455		Missense_Mutation	SNP	ENST00000369291.5	hg19	CCDS922.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883616	0.51908	.	.	ENSG00000121848	ENST00000369291	T	0.12879	2.64	4.99	4.08	0.47627	.	0.056732	0.64402	D	0.000001	T	0.06690	0.0171	L	0.50333	1.59	0.58432	D	0.999997	D	0.57899	0.981	P	0.48114	0.567	T	0.09840	-1.0656	10	0.06891	T	0.86	-5.5491	11.2678	0.49120	0.0881:0.0:0.9119:0.0	.	143	Q9Y4L5	RN115_HUMAN	A	143	ENSP00000358297:G143A	ENSP00000358297:G143A	G	+	2	0	RNF115	144374724	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.713000	0.68415	1.337000	0.45525	0.655000	0.94253	GGA	.	.		0.408	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455	Missense_Mutation
CHD1L	9557	hgsc.bcm.edu	37	1	146747893	146747893	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:146747893A>T	ENST00000369258.4	+	14	1531	c.1511A>T	c.(1510-1512)cAg>cTg	p.Q504L	CHD1L_ENST00000369259.3_Missense_Mutation_p.Q300L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.Q410L|CHD1L_ENST00000361293.5_Missense_Mutation_p.Q223L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	504	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTGGGAGCCCAGAAACCCGCT	0.448																																					p.Q504L		Atlas-SNP	.											.	CHD1L	72	.	0			c.A1511T						.						102.0	103.0	103.0					1																	146747893		2203	4300	6503	SO:0001583	missense	9557	exon14			GAGCCCAGAAACC	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1511A>T	chr1.hg19:g.146747893A>T	ENSP00000358262:p.Gln504Leu	76.0	0.0		129.0	102.0	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	hg19	CCDS927.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642612	0.29246	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	D;T;T;T	0.89681	-2.55;-0.53;-0.53;-0.53	5.37	3.04	0.35103	Helicase, C-terminal (1);	0.292495	0.39146	N	0.001456	T	0.63141	0.2486	N	0.02181	-0.65	0.42982	D	0.994466	D;B;B	0.53151	0.958;0.004;0.0	P;B;B	0.50896	0.653;0.01;0.001	T	0.65047	-0.6263	10	0.19147	T	0.46	.	7.2942	0.26383	0.8226:0.0:0.1774:0.0	.	410;300;504	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	L	410;300;504;404;223	ENSP00000389031:Q410L;ENSP00000358263:Q300L;ENSP00000358262:Q504L;ENSP00000355100:Q223L	ENSP00000355100:Q223L	Q	+	2	0	CHD1L	145214517	0.273000	0.24181	0.998000	0.56505	0.836000	0.47400	0.358000	0.20216	0.431000	0.26258	0.454000	0.30748	CAG	.	.		0.448	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
GJA8	2703	hgsc.bcm.edu	37	1	147380840	147380840	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:147380840A>T	ENST00000369235.1	+	1	758	c.758A>T	c.(757-759)cAc>cTc	p.H253L	GJA8_ENST00000240986.4_Missense_Mutation_p.H253L			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	253					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAATCCCTCCACTCCATTGCT	0.552																																					p.H253L	Melanoma(76;1255 1795 8195 52096)	Atlas-SNP	.											.	GJA8	108	.	0			c.A758T						.						50.0	52.0	51.0					1																	147380840		2203	4300	6503	SO:0001583	missense	2703	exon2			CCCTCCACTCCAT	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.758A>T	chr1.hg19:g.147380840A>T	ENSP00000358238:p.His253Leu	91.0	0.0		184.0	136.0	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	hg19	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	a	5.829	0.337264	0.11013	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97430	-4.38;-4.38	4.4	4.4	0.53042	.	3.298310	0.01166	N	0.006748	D	0.91482	0.7311	L	0.27053	0.805	0.51767	D	0.999936	P	0.46064	0.872	B	0.39503	0.301	T	0.80165	-0.1496	10	0.23302	T	0.38	.	13.7607	0.62963	1.0:0.0:0.0:0.0	.	253	P48165	CXA8_HUMAN	L	253	ENSP00000240986:H253L;ENSP00000358238:H253L	ENSP00000240986:H253L	H	+	2	0	GJA8	145847464	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	2.955000	0.49121	1.837000	0.53436	0.260000	0.18958	CAC	.	.		0.552	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858769	149858769	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:149858769G>C	ENST00000331380.2	+	1	245	c.245G>C	c.(244-246)cGt>cCt	p.R82P	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ATCATCCCTCGTCACCTCCAG	0.632																																					p.R82P		Atlas-SNP	.											.	HIST2H2AC	75	.	0			c.G245C						.						53.0	56.0	55.0					1																	149858769		2203	4295	6498	SO:0001583	missense	8338	exon1			TCCCTCGTCACCT	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.245G>C	chr1.hg19:g.149858769G>C	ENSP00000332194:p.Arg82Pro	220.0	0.0		406.0	125.0	NM_003517	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	hg19	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280744	0.40294	.	.	ENSG00000184260	ENST00000331380	T	0.72505	-0.66	5.56	5.56	0.83823	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44688	D	0.000431	D	0.90721	0.7088	H	0.99104	4.43	0.43145	D	0.994908	D	0.89917	1.0	D	0.97110	1.0	D	0.94356	0.7583	10	0.87932	D	0	.	18.1154	0.89553	0.0:0.0:1.0:0.0	.	82	Q16777	H2A2C_HUMAN	P	82	ENSP00000332194:R82P	ENSP00000332194:R82P	R	+	2	0	HIST2H2AC	148125393	1.000000	0.71417	0.878000	0.34440	0.407000	0.30961	7.793000	0.85851	2.629000	0.89072	0.655000	0.94253	CGT	.	.		0.632	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517	
ADAMTSL4	54507	hgsc.bcm.edu	37	1	150526448	150526448	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:150526448C>A	ENST00000369038.2	+	4	1182	c.981C>A	c.(979-981)cgC>cgA	p.R327R	MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.R327R|ADAMTSL4_ENST00000369041.5_Silent_p.R327R|ADAMTSL4_ENST00000271643.4_Silent_p.R327R			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	327					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACGGGCCCCGCCTGGAGCCTG	0.701																																					p.R327R		Atlas-SNP	.											.	ADAMTSL4	101	.	0			c.C981A						.						9.0	12.0	11.0					1																	150526448		2176	4251	6427	SO:0001819	synonymous_variant	54507	exon6			GCCCCGCCTGGAG	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.981C>A	chr1.hg19:g.150526448C>A		44.0	0.0		102.0	27.0	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	hg19	CCDS955.1																																																																																			.	.		0.701	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
BNIPL	149428	hgsc.bcm.edu	37	1	151018276	151018276	+	Silent	SNP	A	A	G	rs370988337		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:151018276A>G	ENST00000368931.3	+	8	1011	c.855A>G	c.(853-855)ctA>ctG	p.L285L	C1orf56_ENST00000368926.5_5'Flank|BNIPL_ENST00000491386.1_3'UTR|BNIPL_ENST00000295294.7_Silent_p.L203L	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	285	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTTCAGGCTACGGAAAAACC	0.443																																					p.L285L		Atlas-SNP	.											.	BNIPL	45	.	0			c.A855G						.	A	,	0,4406		0,0,2203	144.0	128.0	133.0		609,855	-0.2	1.0	1		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BNIPL	NM_001159642.1,NM_138278.3	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	203/276,285/358	151018276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	149428	exon8			CAGGCTACGGAAA	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.855A>G	chr1.hg19:g.151018276A>G		68.0	0.0		153.0	54.0	NM_138278	Q6DK43|Q8TCY7|Q8WYG2	Silent	SNP	ENST00000368931.3	hg19	CCDS978.2																																																																																			.	.		0.443	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279	
POGZ	23126	hgsc.bcm.edu	37	1	151403269	151403269	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:151403269T>C	ENST00000271715.2	-	4	646	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	POGZ_ENST00000409503.1_Missense_Mutation_p.Q111R|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000531094.1_Missense_Mutation_p.Q58R|POGZ_ENST00000392723.1_Missense_Mutation_p.Q58R|POGZ_ENST00000361398.3_Missense_Mutation_p.Q58R|POGZ_ENST00000491586.1_Missense_Mutation_p.Q58R|POGZ_ENST00000540984.1_5'UTR	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	111					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCTGGATTCTGGGTCAGGAT	0.473																																					p.Q111R		Atlas-SNP	.											.	POGZ	211	.	0			c.A332G						.						101.0	101.0	101.0					1																	151403269		2203	4300	6503	SO:0001583	missense	23126	exon4			GGATTCTGGGTCA	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.332A>G	chr1.hg19:g.151403269T>C	ENSP00000271715:p.Gln111Arg	61.0	0.0		128.0	47.0	NM_015100	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323163	0.60634	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847;ENST00000533461;ENST00000533351;ENST00000450842	T;T;T;T;T;T	0.01279	5.64;5.8;5.64;5.78;5.59;5.06	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000014	T	0.01489	0.0048	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;B	0.52316	0.851;0.596;0.952;0.718;0.908;0.396	P;B;B;B;P;B	0.61397	0.775;0.098;0.269;0.101;0.888;0.099	T	0.72047	-0.4408	10	0.62326	D	0.03	-15.1136	14.0635	0.64815	0.0:0.0:0.0:1.0	.	58;111;111;58;58;111	E9PM80;B7ZBY5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	R	58;111;58;111;58;58;111;111;111;58	ENSP00000376484:Q58R;ENSP00000271715:Q111R;ENSP00000354467:Q58R;ENSP00000386836:Q111R;ENSP00000431259:Q58R;ENSP00000418408:Q58R	ENSP00000271715:Q111R	Q	-	2	0	POGZ	149669893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.956000	0.63645	2.187000	0.69744	0.477000	0.44152	CAG	.	.		0.473	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
FLG	2312	hgsc.bcm.edu	37	1	152286887	152286887	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:152286887T>C	ENST00000368799.1	-	3	510	c.475A>G	c.(475-477)Aaa>Gaa	p.K159E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	159					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTTTCTTTTTTTTCAGAA	0.348									Ichthyosis																												p.K159E		Atlas-SNP	.											.	FLG	900	.	0			c.A475G						.						123.0	133.0	130.0					1																	152286887		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TTTCTTTTTTTTC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.475A>G	chr1.hg19:g.152286887T>C	ENSP00000357789:p.Lys159Glu	58.0	0.0		111.0	80.0	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.060701	0.36373	.	.	ENSG00000143631	ENST00000368799	T	0.00646	6.0	4.82	-7.61	0.01299	.	.	.	.	.	T	0.00109	0.0003	N	0.02539	-0.55	0.09310	N	1	D	0.53885	0.963	P	0.47299	0.543	T	0.51340	-0.8718	9	0.05351	T	0.99	-0.8351	10.092	0.42453	0.0:0.1858:0.1437:0.6705	.	159	P20930	FILA_HUMAN	E	159	ENSP00000357789:K159E	ENSP00000357789:K159E	K	-	1	0	FLG	150553511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.333000	0.01108	-0.925000	0.03775	-0.446000	0.05623	AAA	.	.		0.348	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE2D	353141	hgsc.bcm.edu	37	1	152636872	152636872	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:152636872T>C	ENST00000368784.1	+	2	346	c.291T>C	c.(289-291)tcT>tcC	p.S97S		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	97	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAACCTTCTGGGGCCTCTG	0.642																																					p.S97S		Atlas-SNP	.											.	LCE2D	26	.	0			c.T291C						.						41.0	51.0	48.0					1																	152636872		2191	4282	6473	SO:0001819	synonymous_variant	353141	exon2			ACCTTCTGGGGCC	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.291T>C	chr1.hg19:g.152636872T>C		73.0	0.0		137.0	25.0	NM_178430	A1L4M8	Silent	SNP	ENST00000368784.1	hg19	CCDS1018.1																																																																																			.	.		0.642	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430	
SPRR4	163778	hgsc.bcm.edu	37	1	152944426	152944426	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:152944426G>T	ENST00000328051.2	+	2	109	c.60G>T	c.(58-60)caG>caT	p.Q20H		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	20	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCCCAGCAGCAGCAAGTGA	0.572																																					p.Q20H		Atlas-SNP	.											.	SPRR4	8	.	0			c.G60T						.						104.0	97.0	100.0					1																	152944426		2203	4300	6503	SO:0001583	missense	163778	exon2			CCAGCAGCAGCAA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.60G>T	chr1.hg19:g.152944426G>T	ENSP00000332163:p.Gln20His	148.0	0.0		282.0	224.0	NM_173080	Q2M1Y7|Q5T522	Missense_Mutation	SNP	ENST00000328051.2	hg19	CCDS1031.1	.	.	.	.	.	.	.	.	.	.	G	8.546	0.874408	0.17395	.	.	ENSG00000184148	ENST00000328051	T	0.14893	2.47	4.75	4.75	0.60458	.	.	.	.	.	T	0.28732	0.0712	.	.	.	0.32138	N	0.585828	D	0.76494	0.999	D	0.67900	0.954	T	0.04360	-1.0957	8	0.87932	D	0	-2.064	13.1165	0.59303	0.0:0.0:1.0:0.0	.	20	Q96PI1	SPRR4_HUMAN	H	20	ENSP00000332163:Q20H	ENSP00000332163:Q20H	Q	+	3	2	SPRR4	151211050	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	2.519000	0.45546	2.461000	0.83175	0.460000	0.39030	CAG	.	.		0.572	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080	
SPRR2F	6705	hgsc.bcm.edu	37	1	153085091	153085091	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:153085091T>C	ENST00000468739.1	-	2	179	c.119A>G	c.(118-120)aAg>aGg	p.K40R	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	40	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGGACACTTTGATGGTGG	0.622																																					p.K40R		Atlas-SNP	.											.	SPRR2F	12	.	0			c.A119G						.						214.0	188.0	197.0					1																	153085091		2203	4300	6503	SO:0001583	missense	6705	exon2			GGACACTTTGATG	AF333956	CCDS30867.1	1q21-q22	2008-02-05			ENSG00000244094	ENSG00000244094			11266	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014450		Approved		uc001fbi.3	Q96RM1	OTTHUMG00000014398	ENST00000468739.1:c.119A>G	chr1.hg19:g.153085091T>C	ENSP00000418193:p.Lys40Arg	52.0	0.0		83.0	9.0	NM_001014450	Q5T9T3	Missense_Mutation	SNP	ENST00000468739.1	hg19	CCDS30867.1	.	.	.	.	.	.	.	.	.	.	T	2.131	-0.399029	0.04865	.	.	ENSG00000244094	ENST00000468739	T	0.32753	1.44	3.72	-1.45	0.08828	.	0.942785	0.08679	N	0.909641	T	0.06371	0.0164	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.39522	-0.9610	9	0.87932	D	0	.	0.3353	0.00325	0.1879:0.2303:0.1936:0.3882	.	40	Q96RM1	SPR2F_HUMAN	R	40	ENSP00000418193:K40R	ENSP00000418193:K40R	K	-	2	0	SPRR2F	151351715	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.001000	0.12947	-0.129000	0.11620	0.254000	0.18369	AAG	.	.		0.622	SPRR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040056.1		
NPR1	4881	hgsc.bcm.edu	37	1	153661567	153661567	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:153661567C>T	ENST00000368680.3	+	16	3028	c.2556C>T	c.(2554-2556)atC>atT	p.I852I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	852					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCTACCAGATCCTGCCTCAGT	0.622																																					p.I852I	Pancreas(141;1349 1870 15144 15830 40702)	Atlas-SNP	.											.	NPR1	104	.	0			c.C2556T						.						110.0	103.0	105.0					1																	153661567		2203	4300	6503	SO:0001819	synonymous_variant	4881	exon16			CCAGATCCTGCCT	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2556C>T	chr1.hg19:g.153661567C>T		90.0	0.0		168.0	125.0	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	hg19	CCDS1051.1																																																																																			.	.		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
AQP10	89872	hgsc.bcm.edu	37	1	154294415	154294415	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:154294415A>T	ENST00000324978.3	+	2	152	c.112A>T	c.(112-114)Acc>Tcc	p.T38S	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Missense_Mutation_p.T38S	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	38					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGCTCCTCACCCAAGGAGC	0.562																																					p.T38S		Atlas-SNP	.											.	AQP10	44	.	0			c.A112T						.						35.0	33.0	34.0					1																	154294415		2203	4298	6501	SO:0001583	missense	89872	exon2			CTCCTCACCCAAG	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.112A>T	chr1.hg19:g.154294415A>T	ENSP00000318355:p.Thr38Ser	128.0	0.0		271.0	42.0	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	hg19	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742219	0.69418	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85258	-1.96;-1.96	5.1	5.1	0.69264	Aquaporin-like (2);	0.182943	0.48286	D	0.000197	T	0.72622	0.3483	L	0.39020	1.185	0.25931	N	0.982995	B;P	0.47191	0.049;0.891	B;B	0.43225	0.037;0.412	T	0.71407	-0.4602	10	0.87932	D	0	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	38;38	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	S	38	ENSP00000318355:T38S;ENSP00000420341:T38S	ENSP00000318355:T38S	T	+	1	0	AQP10	152561039	1.000000	0.71417	0.984000	0.44739	0.658000	0.38924	3.957000	0.56730	2.142000	0.66516	0.418000	0.28097	ACC	.	.		0.562	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
ADAR	103	hgsc.bcm.edu	37	1	154573591	154573591	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:154573591T>C	ENST00000368474.4	-	2	1726	c.1527A>G	c.(1525-1527)ttA>ttG	p.L509L	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_Silent_p.L214L|ADAR_ENST00000292205.5_Silent_p.L552L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	509	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGCATATTCTAACAGCCCGC	0.522																																					p.L509L		Atlas-SNP	.											.	ADAR	113	.	0			c.A1527G						.						99.0	101.0	100.0					1																	154573591		2203	4300	6503	SO:0001819	synonymous_variant	103	exon2			ATATTCTAACAGC	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1527A>G	chr1.hg19:g.154573591T>C		83.0	0.0		204.0	65.0	NM_001111	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	hg19	CCDS1071.1																																																																																			.	.		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
CLK2	1196	hgsc.bcm.edu	37	1	155234093	155234093	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:155234093T>A	ENST00000368361.4	-	11	1462		c.e11-2		CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Splice_Site|CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000361168.5_Splice_Site|SCAMP3_ENST00000355379.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCATGGGTCTGGGAAACAAA	0.522								Other conserved DNA damage response genes																													.		Atlas-SNP	.											.	CLK2	55	.	0			c.1144-2A>T						.						88.0	82.0	84.0					1																	155234093		2203	4300	6503	SO:0001630	splice_region_variant	1196	exon12			TGGGTCTGGGAAA	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1147-2A>T	chr1.hg19:g.155234093T>A		175.0	1.0		345.0	239.0	NM_003993	B1AVS9|B5MBX6|Q96CQ0	Splice_Site	SNP	ENST00000368361.4	hg19		.	.	.	.	.	.	.	.	.	.	T	19.45	3.830769	0.71258	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1447	0.59454	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLK2	153500717	1.000000	0.71417	0.977000	0.42913	0.886000	0.51366	7.802000	0.85969	2.045000	0.60652	0.454000	0.30748	.	.	.		0.522	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993	Intron
ASH1L	55870	hgsc.bcm.edu	37	1	155451023	155451023	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:155451023T>C	ENST00000368346.3	-	3	2277	c.1638A>G	c.(1636-1638)ccA>ccG	p.P546P	ASH1L_ENST00000392403.3_Silent_p.P546P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	546					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCACTGAATGGGGATTTAG	0.448																																					p.P546P		Atlas-SNP	.											.	ASH1L	279	.	0			c.A1638G						.						115.0	116.0	115.0					1																	155451023		2203	4300	6503	SO:0001819	synonymous_variant	55870	exon3			ACTGAATGGGGAT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1638A>G	chr1.hg19:g.155451023T>C		54.0	0.0		133.0	26.0	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	hg19																																																																																				.	.		0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
SYT11	23208	hgsc.bcm.edu	37	1	155838371	155838371	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:155838371A>G	ENST00000368324.4	+	2	903	c.650A>G	c.(649-651)aAg>aGg	p.K217R	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	217	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGCTGCGGAAGACCCTGGAC	0.557																																					p.K217R		Atlas-SNP	.											.	SYT11	55	.	0			c.A650G						.						108.0	90.0	96.0					1																	155838371		2203	4300	6503	SO:0001583	missense	23208	exon2			TGCGGAAGACCCT	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.650A>G	chr1.hg19:g.155838371A>G	ENSP00000357307:p.Lys217Arg	144.0	0.0		219.0	72.0	NM_152280	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	hg19	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695227	0.68386	.	.	ENSG00000132718	ENST00000368324	T	0.70869	-0.52	5.97	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.33485	1.01	0.49687	D	0.999811	P	0.42203	0.773	P	0.44990	0.466	T	0.60306	-0.7289	10	0.49607	T	0.09	.	11.2541	0.49043	0.9285:0.0:0.0715:0.0	.	217	Q9BT88	SYT11_HUMAN	R	217	ENSP00000357307:K217R	ENSP00000357307:K217R	K	+	2	0	SYT11	154104995	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.341000	0.65964	2.281000	0.76405	0.533000	0.62120	AAG	.	.		0.557	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280	
BCAN	63827	hgsc.bcm.edu	37	1	156622305	156622305	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:156622305A>T	ENST00000329117.5	+	8	1899	c.1563A>T	c.(1561-1563)ccA>ccT	p.P521P	BCAN_ENST00000361588.5_Silent_p.P521P|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	521	O-glycosylated at two sites.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGCATCACCACTTCCTGATG	0.637																																					p.P521P		Atlas-SNP	.											.	BCAN	174	.	0			c.A1563T						.						24.0	23.0	24.0					1																	156622305		2203	4298	6501	SO:0001819	synonymous_variant	63827	exon8			ATCACCACTTCCT	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1563A>T	chr1.hg19:g.156622305A>T		84.0	0.0		125.0	23.0	NM_198427	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	hg19	CCDS1149.1																																																																																			.	.		0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
FCRL5	83416	hgsc.bcm.edu	37	1	157488541	157488541	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:157488541T>A	ENST00000361835.3	-	14	2849	c.2692A>T	c.(2692-2694)Acc>Tcc	p.T898S	FCRL5_ENST00000356953.4_Missense_Mutation_p.T898S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	898					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTGTGATAGGTGGGCTCTTGG	0.507																																					p.T898S		Atlas-SNP	.											.	FCRL5	177	.	0			c.A2692T						.						110.0	105.0	107.0					1																	157488541		2203	4300	6503	SO:0001583	missense	83416	exon14			GATAGGTGGGCTC	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2692A>T	chr1.hg19:g.157488541T>A	ENSP00000354691:p.Thr898Ser	96.0	0.0		182.0	34.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419230	0.42918	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.47528	0.84;0.85	4.72	1.17	0.20885	.	4.957450	0.00582	N	0.000335	T	0.22742	0.0549	L	0.46885	1.475	0.80722	D	1	B;B	0.31193	0.312;0.312	B;B	0.32090	0.14;0.14	T	0.34079	-0.9843	10	0.25106	T	0.35	.	6.3103	0.21161	0.0:0.2992:0.0:0.7008	.	898;898	A6NJE8;Q96RD9	.;FCRL5_HUMAN	S	898	ENSP00000354691:T898S;ENSP00000349434:T898S	ENSP00000349434:T898S	T	-	1	0	FCRL5	155755165	0.988000	0.35896	0.994000	0.49952	0.406000	0.30931	0.585000	0.23879	0.388000	0.25054	-0.263000	0.10527	ACC	.	.		0.507	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
FCRL5	83416	hgsc.bcm.edu	37	1	157514159	157514159	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:157514159T>A	ENST00000361835.3	-	5	894	c.737A>T	c.(736-738)cAg>cTg	p.Q246L	FCRL5_ENST00000368190.3_Missense_Mutation_p.Q246L|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q246L|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q161L|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q246L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	246	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGCAGTAATCTGGAAATTCGG	0.522																																					p.Q246L		Atlas-SNP	.											.	FCRL5	177	.	0			c.A737T						.						135.0	143.0	140.0					1																	157514159		2203	4300	6503	SO:0001583	missense	83416	exon5			GTAATCTGGAAAT	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.737A>T	chr1.hg19:g.157514159T>A	ENSP00000354691:p.Gln246Leu	145.0	1.0		274.0	198.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	hg19	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730916	0.48939	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	4.3	-4.43	0.03568	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.478390	0.01739	N	0.029316	T	0.08268	0.0206	L	0.58669	1.825	0.09310	N	1	P;P;P;D;P	0.58620	0.944;0.88;0.903;0.983;0.903	P;B;P;P;P	0.57324	0.6;0.316;0.814;0.818;0.814	T	0.21965	-1.0230	10	0.23302	T	0.38	.	8.1502	0.31137	0.0:0.5288:0.1482:0.323	.	161;246;246;246;246	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	L	246;246;246;161;246	ENSP00000354691:Q246L;ENSP00000349434:Q246L;ENSP00000357173:Q246L;ENSP00000357174:Q161L;ENSP00000357172:Q246L	ENSP00000349434:Q246L	Q	-	2	0	FCRL5	155780783	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.385000	0.07379	-1.173000	0.02758	-0.371000	0.07208	CAG	.	.		0.522	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
CD5L	922	hgsc.bcm.edu	37	1	157803106	157803106	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:157803106A>C	ENST00000368174.4	-	5	1011	c.915T>G	c.(913-915)gtT>gtG	p.V305V	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	305	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGCGGCCAACCCCAGGGC	0.587																																					p.V305V		Atlas-SNP	.											.	CD5L	112	.	0			c.T915G						.						102.0	103.0	103.0					1																	157803106		2203	4300	6503	SO:0001819	synonymous_variant	922	exon5			GCGGCCAACCCCA	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.915T>G	chr1.hg19:g.157803106A>C		146.0	0.0		250.0	174.0	NM_005894	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	hg19	CCDS1171.1																																																																																			.	.		0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD5L	922	hgsc.bcm.edu	37	1	157803162	157803162	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:157803162A>T	ENST00000368174.4	-	5	955	c.859T>A	c.(859-861)Tgt>Agt	p.C287S	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	287	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACTTCCCACAGCCCAGTTGC	0.587																																					p.C287S		Atlas-SNP	.											.	CD5L	112	.	0			c.T859A						.						130.0	133.0	132.0					1																	157803162		2203	4300	6503	SO:0001583	missense	922	exon5			TCCCACAGCCCAG	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.859T>A	chr1.hg19:g.157803162A>T	ENSP00000357156:p.Cys287Ser	144.0	0.0		227.0	160.0	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	hg19	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.033407	0.75504	.	.	ENSG00000073754	ENST00000368174	T	0.38077	1.16	4.88	4.88	0.63580	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.92691	3.335	0.52099	D	0.999946	D	0.89917	1.0	D	0.85130	0.997	T	0.71616	-0.4539	10	0.87932	D	0	.	12.4752	0.55809	1.0:0.0:0.0:0.0	.	287	O43866	CD5L_HUMAN	S	287	ENSP00000357156:C287S	ENSP00000357156:C287S	C	-	1	0	CD5L	156069786	1.000000	0.71417	0.979000	0.43373	0.565000	0.35776	8.804000	0.91921	2.032000	0.59987	0.533000	0.62120	TGT	.	.		0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
OR10Z1	128368	hgsc.bcm.edu	37	1	158576643	158576643	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:158576643A>T	ENST00000361284.1	+	1	415	c.415A>T	c.(415-417)Acc>Tcc	p.T139S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CATGAATCCTACCCTCTGTGC	0.512																																					p.T139S		Atlas-SNP	.											.	OR10Z1	99	.	0			c.A415T						.						92.0	92.0	92.0					1																	158576643		2203	4300	6503	SO:0001583	missense	128368	exon1			AATCCTACCCTCT	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.415A>T	chr1.hg19:g.158576643A>T	ENSP00000354707:p.Thr139Ser	107.0	0.0		169.0	40.0	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	hg19	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304147	0.10678	.	.	ENSG00000198967	ENST00000361284	T	0.36520	1.25	5.3	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.543732	0.15503	N	0.258921	T	0.05777	0.0151	N	0.11064	0.09	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42565	-0.9444	10	0.17369	T	0.5	.	7.8879	0.29661	0.7964:0.0:0.2036:0.0	.	139	Q8NGY1	O10Z1_HUMAN	S	139	ENSP00000354707:T139S	ENSP00000354707:T139S	T	+	1	0	OR10Z1	156843267	0.000000	0.05858	0.003000	0.11579	0.784000	0.44337	-1.162000	0.03141	0.373000	0.24621	-0.256000	0.11100	ACC	.	.		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
OR10Z1	128368	hgsc.bcm.edu	37	1	158576656	158576656	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:158576656A>T	ENST00000361284.1	+	1	428	c.428A>T	c.(427-429)cAg>cTg	p.Q143L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTCTGTGCCCAGCTGGTCATT	0.502																																					p.Q143L		Atlas-SNP	.											.	OR10Z1	99	.	0			c.A428T						.						89.0	89.0	89.0					1																	158576656		2203	4300	6503	SO:0001583	missense	128368	exon1			GTGCCCAGCTGGT	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.428A>T	chr1.hg19:g.158576656A>T	ENSP00000354707:p.Gln143Leu	107.0	0.0		179.0	138.0	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	hg19	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934520	0.18206	.	.	ENSG00000198967	ENST00000361284	T	0.00034	8.87	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.192595	0.25833	N	0.028005	T	0.00039	0.0001	N	0.20483	0.58	0.34455	D	0.70113	B	0.23377	0.084	B	0.26094	0.066	T	0.00166	-1.1965	10	0.06891	T	0.86	.	8.9164	0.35585	0.9163:0.0:0.0837:0.0	.	143	Q8NGY1	O10Z1_HUMAN	L	143	ENSP00000354707:Q143L	ENSP00000354707:Q143L	Q	+	2	0	OR10Z1	156843280	0.000000	0.05858	0.994000	0.49952	0.435000	0.31806	-0.130000	0.10498	2.219000	0.72066	0.533000	0.62120	CAG	.	.		0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
SPTA1	6708	hgsc.bcm.edu	37	1	158627334	158627334	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:158627334G>A	ENST00000368147.4	-	19	2918	c.2738C>T	c.(2737-2739)aCa>aTa	p.T913I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	913					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGATCCATGTTTCTGCTTC	0.473																																					p.T913I		Atlas-SNP	.											.	SPTA1	720	.	0			c.C2738T						.						166.0	167.0	166.0					1																	158627334		1998	4186	6184	SO:0001583	missense	6708	exon19			ATCCATGTTTCTG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2738C>T	chr1.hg19:g.158627334G>A	ENSP00000357129:p.Thr913Ile	85.0	0.0		162.0	41.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487145	0.63962	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.68	4.68	0.58851	.	0.265155	0.19957	N	0.102285	T	0.40522	0.1120	L	0.52011	1.625	0.35735	D	0.818194	B	0.27951	0.195	B	0.39027	0.288	T	0.50668	-0.8801	10	0.72032	D	0.01	.	16.6727	0.85271	0.0:0.0:1.0:0.0	.	913	P02549	SPTA1_HUMAN	I	913	ENSP00000357130:T913I;ENSP00000357129:T913I	ENSP00000357129:T913I	T	-	2	0	SPTA1	156893958	1.000000	0.71417	0.938000	0.37757	0.989000	0.77384	8.424000	0.90267	2.569000	0.86673	0.655000	0.94253	ACA	.	.		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K2	81448	hgsc.bcm.edu	37	1	158669603	158669603	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:158669603T>C	ENST00000359610.2	-	1	883	c.840A>G	c.(838-840)gcA>gcG	p.A280A		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAGACAAAACTGCAAAGGCCA	0.398																																					p.A280A		Atlas-SNP	.											.	OR6K2	104	.	0			c.A840G						.						101.0	97.0	99.0					1																	158669603		2203	4300	6503	SO:0001819	synonymous_variant	81448	exon1			CAAAACTGCAAAG	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.840A>G	chr1.hg19:g.158669603T>C		228.0	0.0		408.0	93.0	NM_001005279	B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	hg19	CCDS30902.1																																																																																			.	.		0.398	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
OR6K2	81448	hgsc.bcm.edu	37	1	158669632	158669632	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:158669632A>T	ENST00000359610.2	-	1	854	c.811T>A	c.(811-813)Tgg>Agg	p.W271R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCTATATCCCAGAACAAAGAG	0.418																																					p.W271R		Atlas-SNP	.											.	OR6K2	104	.	0			c.T811A						.						102.0	99.0	100.0					1																	158669632		2203	4300	6503	SO:0001583	missense	81448	exon1			TATCCCAGAACAA	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.811T>A	chr1.hg19:g.158669632A>T	ENSP00000352626:p.Trp271Arg	218.0	0.0		415.0	167.0	NM_001005279	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	hg19	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599223	0.46318	.	.	ENSG00000196171	ENST00000359610	T	0.00058	8.79	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	N	0.001459	T	0.00073	0.0002	N	0.08118	0	0.29001	N	0.887454	D	0.63046	0.992	D	0.71184	0.972	T	0.54370	-0.8304	10	0.20046	T	0.44	-3.5061	9.1704	0.37076	0.8375:0.0:0.0:0.1625	.	271	Q8NGY2	OR6K2_HUMAN	R	271	ENSP00000352626:W271R	ENSP00000352626:W271R	W	-	1	0	OR6K2	156936256	0.212000	0.23540	1.000000	0.80357	0.984000	0.73092	1.766000	0.38491	2.053000	0.61076	0.533000	0.62120	TGG	.	.		0.418	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
AIM2	9447	hgsc.bcm.edu	37	1	159038418	159038418	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:159038418T>A	ENST00000368130.4	-	3	624	c.336A>T	c.(334-336)gcA>gcT	p.A112A	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	112					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTCTGATGGCTGCAGATGCAG	0.423																																					p.A112A		Atlas-SNP	.											.	AIM2	70	.	0			c.A336T						.						266.0	211.0	230.0					1																	159038418		2203	4300	6503	SO:0001819	synonymous_variant	9447	exon3			GATGGCTGCAGAT	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.336A>T	chr1.hg19:g.159038418T>A		84.0	0.0		162.0	108.0	NM_004833	A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	hg19	CCDS1181.1																																																																																			.	.		0.423	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	
ATP1A2	477	hgsc.bcm.edu	37	1	160097597	160097597	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:160097597T>A	ENST00000361216.3	+	8	1093	c.1004T>A	c.(1003-1005)cTg>cAg	p.L335Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.L335Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	335					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAGGGGCTTCTGGCCACTGTC	0.572																																					p.L335Q		Atlas-SNP	.											.	ATP1A2	167	.	0			c.T1004A						.						76.0	74.0	75.0					1																	160097597		2203	4300	6503	SO:0001583	missense	477	exon8			GGCTTCTGGCCAC	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1004T>A	chr1.hg19:g.160097597T>A	ENSP00000354490:p.Leu335Gln	56.0	0.0		107.0	77.0	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	hg19	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.201428|4.201428	0.79015|0.79015	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233|ENST00000447527	D;D|.	0.89123|.	-2.47;-2.47|.	4.65|4.65	4.65|4.65	0.58169|0.58169	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81004|0.81004	0.4733|0.4733	M|M	0.92923|0.92923	3.36|3.36	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.78314|.	0.991;0.978;0.987|.	D|D	0.86117|0.86117	0.1566|0.1566	10|5	0.87932|.	D|.	0|.	.|.	13.3483|13.3483	0.60587|0.60587	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	180;235;335|.	B4DHD7;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	Q|R	180;335;335|46	ENSP00000354490:L335Q;ENSP00000376066:L335Q|.	ENSP00000354490:L335Q|.	L|W	+|+	2|1	0|0	ATP1A2|ATP1A2	158364221|158364221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.970000|7.970000	0.88000|0.88000	1.860000|1.860000	0.53959|0.53959	0.459000|0.459000	0.35465|0.35465	CTG|TGG	.	.		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A4	480	hgsc.bcm.edu	37	1	160144010	160144010	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:160144010C>A	ENST00000368081.4	+	14	2572	c.2101C>A	c.(2101-2103)Cct>Act	p.P701T	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	701					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			tcgGACCTCCCCTCAGCAGAA	0.542																																					p.P701T		Atlas-SNP	.											.	ATP1A4	167	.	0			c.C2101A						.						115.0	102.0	106.0					1																	160144010		2203	4300	6503	SO:0001583	missense	480	exon14			ACCTCCCCTCAGC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2101C>A	chr1.hg19:g.160144010C>A	ENSP00000357060:p.Pro701Thr	196.0	0.0		329.0	236.0	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	hg19	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501057	0.85176	.	.	ENSG00000132681	ENST00000368081	D	0.98987	-5.3	4.27	4.27	0.50696	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.96301	3.8	0.80722	D	1	D	0.57571	0.98	D	0.70227	0.968	D	0.98143	1.0437	10	0.87932	D	0	.	14.5908	0.68362	0.0:1.0:0.0:0.0	.	701	Q13733	AT1A4_HUMAN	T	701	ENSP00000357060:P701T	ENSP00000357060:P701T	P	+	1	0	ATP1A4	158410634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.623000	0.83113	2.371000	0.80710	0.655000	0.94253	CCT	.	.		0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
SLAMF1	6504	hgsc.bcm.edu	37	1	160582368	160582368	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:160582368A>G	ENST00000302035.6	-	6	1216	c.867T>C	c.(865-867)ccT>ccC	p.P289P	SLAMF1_ENST00000538290.1_Missense_Mutation_p.S265P|SLAMF1_ENST00000235739.5_Silent_p.P259P	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	289					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCTGAAGAGGCTACAAGA	0.502																																					p.P289P		Atlas-SNP	.											.	SLAMF1	74	.	0			c.T867C						.						51.0	50.0	50.0					1																	160582368		2203	4300	6503	SO:0001819	synonymous_variant	6504	exon6			CTGAAGAGGCTAC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.867T>C	chr1.hg19:g.160582368A>G		40.0	0.0		101.0	67.0	NM_003037	Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	hg19	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811642	0.32053	.	.	ENSG00000117090	ENST00000538290	T	0.38560	1.13	4.21	0.389	0.16269	.	.	.	.	.	T	0.09468	0.0233	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.32161	-0.9917	5	.	.	.	-1.0383	1.3321	0.02137	0.5337:0.1862:0.101:0.1792	.	.	.	.	P	265	ENSP00000438406:S265P	.	S	-	1	0	SLAMF1	158848992	0.002000	0.14202	0.000000	0.03702	0.188000	0.23474	0.484000	0.22308	0.045000	0.15804	0.533000	0.62120	TCT	.	.		0.502	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
LY9	4063	hgsc.bcm.edu	37	1	160784286	160784286	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:160784286T>G	ENST00000263285.6	+	4	837	c.807T>G	c.(805-807)ctT>ctG	p.L269L	LY9_ENST00000368037.5_Silent_p.L269L|LY9_ENST00000368041.2_Silent_p.L229L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Silent_p.L269L|LY9_ENST00000392203.4_Silent_p.L269L			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	269	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCCTGCCACTTGCACTCCCAG	0.562																																					p.L269L		Atlas-SNP	.											.	LY9	115	.	0			c.T807G						.						84.0	81.0	82.0					1																	160784286		2203	4300	6503	SO:0001819	synonymous_variant	4063	exon4			GCCACTTGCACTC	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.807T>G	chr1.hg19:g.160784286T>G		122.0	0.0		190.0	138.0	NM_001261457	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	hg19	CCDS30916.1																																																																																			.	.		0.562	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
PVRL4	81607	hgsc.bcm.edu	37	1	161044159	161044159	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:161044159G>T	ENST00000368012.3	-	6	1307	c.1005C>A	c.(1003-1005)ccC>ccA	p.P335P	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_Silent_p.P69P	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	335					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTCTTCCTGGGGGTCTGCTG	0.607																																					p.P335P	NSCLC(76;1160 1387 14476 16172 29359)	Atlas-SNP	.											.	PVRL4	48	.	0			c.C1005A						.						152.0	133.0	139.0					1																	161044159		2203	4300	6503	SO:0001819	synonymous_variant	81607	exon6			TTCCTGGGGGTCT	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1005C>A	chr1.hg19:g.161044159G>T		112.0	0.0		182.0	38.0	NM_030916	B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	hg19	CCDS1216.1																																																																																			.	.		0.607	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
FCRLA	84824	hgsc.bcm.edu	37	1	161682966	161682966	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:161682966T>A	ENST00000236938.6	+	5	1169	c.927T>A	c.(925-927)ccT>ccA	p.P309P	FCRLA_ENST00000367959.2_Silent_p.P315P|FCRLA_ENST00000367949.2_Silent_p.P125P|FCRLA_ENST00000367950.1_Silent_p.P85P|FCRLA_ENST00000294796.4_Silent_p.P158P|FCRLA_ENST00000540521.1_Silent_p.P175P|FCRLA_ENST00000546024.1_Silent_p.P220P|FCRLA_ENST00000367957.2_Silent_p.P169P|FCRLA_ENST00000367953.3_Silent_p.P298P|FCRLA_ENST00000350710.3_Silent_p.P74P|FCRLA_ENST00000540926.1_Silent_p.P298P|FCRLA_ENST00000349527.4_Silent_p.P197P|FCRLA_ENST00000309691.6_Silent_p.P203P|FCRLA_ENST00000470841.1_3'UTR	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	292	Pro-rich.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCCCTGGGCCTCTGCCTCCGC	0.562																																					p.P315P		Atlas-SNP	.											.	FCRLA	101	.	0			c.T945A						.						62.0	68.0	66.0					1																	161682966		2203	4300	6503	SO:0001819	synonymous_variant	84824	exon6			TGGGCCTCTGCCT	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.927T>A	chr1.hg19:g.161682966T>A		91.0	0.0		161.0	118.0	NM_001184866	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	hg19	CCDS30926.1																																																																																			.	.		0.562	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
DUSP27	92235	hgsc.bcm.edu	37	1	167096996	167096996	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:167096996A>T	ENST00000361200.2	+	6	2794	c.2628A>T	c.(2626-2628)gaA>gaT	p.E876D	DUSP27_ENST00000271385.5_Missense_Mutation_p.E876D|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E876D			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	876					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGTCAAGGAAGATGAGGATG	0.488																																					p.E876D		Atlas-SNP	.											.	DUSP27	235	.	0			c.A2628T						.						97.0	81.0	86.0					1																	167096996		2203	4300	6503	SO:0001583	missense	92235	exon5			CAAGGAAGATGAG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2628A>T	chr1.hg19:g.167096996A>T	ENSP00000354483:p.Glu876Asp	60.0	0.0		100.0	73.0	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	5.013	0.188019	0.09547	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03358	3.96;3.96;3.96	5.4	-1.69	0.08186	.	0.795647	0.11082	N	0.601758	T	0.00580	0.0019	L	0.27053	0.805	0.26419	N	0.976136	B	0.06786	0.001	B	0.08055	0.003	T	0.47222	-0.9134	10	0.07813	T	0.8	-2.0674	2.4576	0.04533	0.2833:0.3299:0.0671:0.3197	.	876	Q5VZP5	DUS27_HUMAN	D	876	ENSP00000354483:E876D;ENSP00000271385:E876D;ENSP00000404874:E876D	ENSP00000271385:E876D	E	+	3	2	DUSP27	165363620	0.003000	0.15002	0.540000	0.28089	0.553000	0.35397	-0.953000	0.03877	-0.228000	0.09869	-0.269000	0.10298	GAA	.	.		0.488	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
F5	2153	hgsc.bcm.edu	37	1	169521814	169521814	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:169521814T>A	ENST00000367797.3	-	8	1478	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	F5_ENST00000546081.1_Missense_Mutation_p.Q289L|F5_ENST00000367796.3_Missense_Mutation_p.Q426L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	426	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTCTGACCTGGGCTCTGAT	0.343																																					p.Q426L		Atlas-SNP	.											.	F5	301	.	0			c.A1277T						.						123.0	120.0	121.0					1																	169521814		2203	4300	6503	SO:0001583	missense	2153	exon8			CTGACCTGGGCTC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1277A>T	chr1.hg19:g.169521814T>A	ENSP00000356771:p.Gln426Leu	116.0	0.0		184.0	138.0	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578911	0.86645	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98968	-5.28;-5.28;-5.28	5.65	5.65	0.86999	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.84326	2.69	0.43267	D	0.995219	D	0.76494	0.999	D	0.83275	0.996	D	0.99851	1.1072	9	0.87932	D	0	-14.5758	16.1566	0.81673	0.0:0.0:0.0:1.0	.	426	P12259	FA5_HUMAN	L	426;426;289	ENSP00000356771:Q426L;ENSP00000356770:Q426L;ENSP00000439664:Q289L	ENSP00000356770:Q426L	Q	-	2	0	F5	167788438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.420000	0.80191	2.268000	0.75426	0.533000	0.62120	CAG	.	.		0.343	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	hgsc.bcm.edu	37	1	169586539	169586539	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:169586539T>A	ENST00000263686.6	-	3	245	c.208A>T	c.(208-210)Atc>Ttc	p.I70F	SELP_ENST00000367794.2_Missense_Mutation_p.I70F|SELP_ENST00000367786.2_Missense_Mutation_p.I70F|SELP_ENST00000367793.2_Missense_Mutation_p.I70F|SELP_ENST00000367791.2_Missense_Mutation_p.I70F|SELP_ENST00000367788.2_Missense_Mutation_p.I70F|SELP_ENST00000458599.2_Missense_Mutation_p.I70F|SELP_ENST00000367792.2_Missense_Mutation_p.I70F	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	70	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTATTCTGGATGGCCACTAAG	0.408																																					p.I70F		Atlas-SNP	.											.	SELP	132	.	0			c.A208T						.						175.0	162.0	166.0					1																	169586539		2203	4300	6503	SO:0001583	missense	6403	exon3			TCTGGATGGCCAC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.208A>T	chr1.hg19:g.169586539T>A	ENSP00000263686:p.Ile70Phe	107.0	0.0		210.0	34.0	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	hg19	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.56|19.56	3.851032|3.851032	0.71719|0.71719	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.19	5.9|5.9	5.9|5.9	0.94986|0.94986	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.56097	.|D	.|0.000034	T|T	0.50411|0.50411	0.1614|0.1614	H|H	0.95151|0.95151	3.63|3.63	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.63184|0.63184	-0.6694|-0.6694	5|10	.|0.40728	.|T	.|0.16	-27.0552|-27.0552	14.2765|14.2765	0.66184|0.66184	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|70;70	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	L|F	69|70;70;69;70;70;70;70;70;70;70;70;70;55	.|ENSP00000263686:I70F;ENSP00000356767:I70F;ENSP00000356768:I70F;ENSP00000356766:I70F;ENSP00000356765:I70F;ENSP00000356762:I70F;ENSP00000356760:I70F;ENSP00000399368:I55F	.|ENSP00000263686:I70F	H|I	-|-	2|1	0|0	SELP|SELP	167853163|167853163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.359000|0.359000	0.29487|0.29487	7.698000|7.698000	0.84413|0.84413	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	CAT|ATC	.	.		0.408	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
FMO2	2327	hgsc.bcm.edu	37	1	171174726	171174726	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:171174726T>C	ENST00000209929.7	+	7	1294	c.1136T>C	c.(1135-1137)tTc>tCc	p.F379S	FMO2_ENST00000441535.1_Missense_Mutation_p.F379S|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	378					drug catabolic process (GO:0042737)	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)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTCCATTTTCCCAACTGCT	0.463																																					p.F379S		Atlas-SNP	.											.	FMO2	66	.	0			c.T1136C						.						54.0	53.0	54.0					1																	171174726		2203	4300	6503	SO:0001583	missense	2327	exon7			CCATTTTCCCAAC	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1136T>C	chr1.hg19:g.171174726T>C	ENSP00000209929:p.Phe379Ser	76.0	0.0		116.0	80.0	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	hg19	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338753	0.60963	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.53857	0.6;0.6	5.55	5.55	0.83447	.	0.083924	0.85682	D	0.000000	T	0.52175	0.1718	M	0.80746	2.51	0.34366	D	0.691472	B	0.33212	0.402	B	0.41135	0.348	T	0.64402	-0.6416	10	0.87932	D	0	-25.341	14.9772	0.71283	0.0:0.0:0.0:1.0	.	379	Q99518	FMO2_HUMAN	S	379	ENSP00000209929:F379S;ENSP00000405905:F379S	ENSP00000209929:F379S	F	+	2	0	FMO2	169441350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.349000	0.52217	2.234000	0.73211	0.533000	0.62120	TTC	.	.		0.463	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
PRRC2C	23215	hgsc.bcm.edu	37	1	171510057	171510057	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:171510057A>T	ENST00000338920.4	+	16	3683	c.3446A>T	c.(3445-3447)gAg>gTg	p.E1149V	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1149V|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1151V|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E1151V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1149					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CTTGTTATAGAGAGGCCTCGA	0.433																																					p.E1149V		Atlas-SNP	.											.	.	.	.	0			c.A3446T						.						47.0	49.0	49.0					1																	171510057		2203	4300	6503	SO:0001583	missense	23215	exon16			TTATAGAGAGGCC	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3446A>T	chr1.hg19:g.171510057A>T	ENSP00000343629:p.Glu1149Val	186.0	0.0		338.0	74.0	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	hg19	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999795	0.19121	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02216	4.39;4.4;4.39;4.4	5.91	5.91	0.95273	.	0.000000	0.47093	D	0.000249	T	0.01870	0.0059	L	0.29908	0.895	0.46131	D	0.998886	D	0.53462	0.96	P	0.51229	0.663	T	0.60500	-0.7251	10	0.66056	D	0.02	.	10.6452	0.45615	0.9292:0.0:0.0708:0.0	.	1149	Q9Y520-4	.	V	1151;1150;1149;1151;1149;906	ENSP00000375928:E1151V;ENSP00000410219:E1149V;ENSP00000356716:E1151V;ENSP00000343629:E1149V	ENSP00000343629:E1149V	E	+	2	0	PRRC2C	169776681	1.000000	0.71417	0.939000	0.37840	0.936000	0.57629	2.931000	0.48932	2.254000	0.74563	0.533000	0.62120	GAG	.	.		0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
MYOC	4653	hgsc.bcm.edu	37	1	171605647	171605647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:171605647G>C	ENST00000037502.6	-	3	1004	c.933C>G	c.(931-933)taC>taG	p.Y311*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	311	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCTTAGAAGGGTAGCCCTGCA	0.552																																					p.Y311X		Atlas-SNP	.											.	MYOC	69	.	0			c.C933G						.						80.0	71.0	74.0					1																	171605647		2203	4300	6503	SO:0001587	stop_gained	4653	exon3			AGAAGGGTAGCCC	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.933C>G	chr1.hg19:g.171605647G>C	ENSP00000037502:p.Tyr311*	71.0	0.0		138.0	22.0	NM_000261	B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	ENST00000037502.6	hg19	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463492	0.43736	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	2.31	0.28768	.	0.436778	0.29293	N	0.012569	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5227	0.33287	0.1686:0.133:0.6985:0.0	.	.	.	.	X	311;264;244;311	.	ENSP00000037502:Y311X	Y	-	3	2	MYOC	169872270	1.000000	0.71417	0.996000	0.52242	0.101000	0.19017	0.675000	0.25232	0.722000	0.32252	0.555000	0.69702	TAC	.	.		0.552	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261	
METTL13	51603	hgsc.bcm.edu	37	1	171759656	171759656	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:171759656A>T	ENST00000361735.3	+	5	1640	c.1374A>T	c.(1372-1374)gcA>gcT	p.A458A	METTL13_ENST00000466643.1_Intron|METTL13_ENST00000458517.1_Silent_p.A457A|METTL13_ENST00000362019.3_Silent_p.A372A|METTL13_ENST00000367737.5_Silent_p.A302A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	458							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ACCTCCCTGCAGCCCCGGGGC	0.537																																					p.A458A		Atlas-SNP	.											.	METTL13	67	.	0			c.A1374T						.						93.0	90.0	91.0					1																	171759656		2203	4300	6503	SO:0001819	synonymous_variant	51603	exon5			CCCTGCAGCCCCG	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1374A>T	chr1.hg19:g.171759656A>T		319.0	0.0		500.0	336.0	NM_015935	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	hg19	CCDS1299.1																																																																																			.	.		0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955	
ASTN1	460	hgsc.bcm.edu	37	1	177001594	177001594	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:177001594G>A	ENST00000367654.3	-	3	1074	c.863C>T	c.(862-864)cCa>cTa	p.P288L	ASTN1_ENST00000361833.2_Missense_Mutation_p.P288L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P288L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P288L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	288					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCCCCACCTGGTGTGAGGTC	0.592																																					p.P288L		Atlas-SNP	.											.	ASTN1	314	.	0			c.C863T						.						102.0	101.0	102.0					1																	177001594		2203	4300	6503	SO:0001583	missense	460	exon3			CCACCTGGTGTGA	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.863C>T	chr1.hg19:g.177001594G>A	ENSP00000356626:p.Pro288Leu	32.0	0.0		68.0	23.0	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	hg19		.	.	.	.	.	.	.	.	.	.	G	21.8	4.203182	0.79127	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.85;2.85;2.44	5.53	5.53	0.82687	.	0.100739	0.64402	N	0.000001	T	0.16727	0.0402	N	0.24115	0.695	0.80722	D	1	P;P;P	0.42296	0.775;0.573;0.573	B;B;B	0.41412	0.356;0.272;0.272	T	0.01613	-1.1312	10	0.56958	D	0.05	-18.5904	19.0469	0.93025	0.0:0.0:1.0:0.0	.	288;288;288	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	288	ENSP00000356629:P288L;ENSP00000354536:P288L;ENSP00000356626:P288L;ENSP00000395041:P288L	ENSP00000354536:P288L	P	-	2	0	ASTN1	175268217	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.267000	0.95665	2.563000	0.86464	0.655000	0.94253	CCA	.	.		0.592	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
BRINP2	57795	hgsc.bcm.edu	37	1	177226313	177226313	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:177226313A>G	ENST00000361539.4	+	4	774	c.462A>G	c.(460-462)ggA>ggG	p.G154G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	154	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCACCATAGGAGAAGAGTCCC	0.493																																					p.G154G		Atlas-SNP	.											.	FAM5B	191	.	0			c.A462G						.						83.0	80.0	81.0					1																	177226313		2203	4300	6503	SO:0001630	splice_region_variant	57795	exon4			CATAGGAGAAGAG		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.461-1A>G	chr1.hg19:g.177226313A>G		191.0	0.0		309.0	234.0	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	hg19	CCDS1320.1																																																																																			.	.		0.493	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	Silent
SEC16B	89866	hgsc.bcm.edu	37	1	177906378	177906378	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:177906378T>C	ENST00000308284.6	-	19	2563	c.2474A>G	c.(2473-2475)gAg>gGg	p.E825G	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'Flank	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	825					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGCATTTCCTCCCAGACTGT	0.592																																					p.E825G		Atlas-SNP	.											.	SEC16B	92	.	0			c.A2474G						.						49.0	55.0	53.0					1																	177906378		2042	4202	6244	SO:0001583	missense	89866	exon19			ATTTCCTCCCAGA	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2474A>G	chr1.hg19:g.177906378T>C	ENSP00000308339:p.Glu825Gly	53.0	0.0		96.0	65.0	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	hg19	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068216	0.36470	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.17691	2.26	5.11	3.97	0.46021	.	0.263692	0.32918	N	0.005492	T	0.19886	0.0478	M	0.71581	2.175	0.49130	D	0.999752	P;P;P;P	0.52463	0.953;0.483;0.483;0.78	B;B;B;B	0.42462	0.388;0.122;0.122;0.197	T	0.02398	-1.1165	10	0.38643	T	0.18	-18.5363	8.8932	0.35446	0.0:0.0:0.1887:0.8113	.	380;826;825;522	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	G	825;509;540	ENSP00000308339:E825G	ENSP00000239472:E540G	E	-	2	0	AL359075.1	176173001	0.958000	0.32768	0.247000	0.24249	0.141000	0.21300	1.965000	0.40471	0.939000	0.37446	0.528000	0.53228	GAG	.	.		0.592	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
STX6	10228	hgsc.bcm.edu	37	1	180953835	180953835	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:180953835T>C	ENST00000258301.5	-	7	906	c.669A>G	c.(667-669)gcA>gcG	p.A223A	STX6_ENST00000469135.1_5'UTR|STX6_ENST00000542060.1_Silent_p.A122A	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	223	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GAGATACTTTTGCAAGTTTCT	0.423																																					p.A223A		Atlas-SNP	.											.	STX6	21	.	0			c.A669G						.						101.0	96.0	97.0					1																	180953835		2203	4300	6503	SO:0001819	synonymous_variant	10228	exon7			TACTTTTGCAAGT	AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.669A>G	chr1.hg19:g.180953835T>C		73.0	0.0		114.0	74.0	NM_005819	B2R652|B4DR17|Q5VY08|Q6FH83	Silent	SNP	ENST00000258301.5	hg19	CCDS1341.1																																																																																			.	.		0.423	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819	
CACNA1E	777	hgsc.bcm.edu	37	1	181680158	181680158	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:181680158A>T	ENST00000367573.2	+	8	1124	c.1124A>T	c.(1123-1125)cAg>cTg	p.Q375L	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q375L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q326L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q375L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q375L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q326L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	375	Binding to the beta subunit. {ECO:0000250}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCAGCAGCAGATTGAGCGT	0.562																																					p.Q375L		Atlas-SNP	.											.	CACNA1E	778	.	0			c.A1124T						.						70.0	76.0	74.0					1																	181680158		1979	4156	6135	SO:0001583	missense	777	exon8			AGCAGCAGATTGA	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1124A>T	chr1.hg19:g.181680158A>T	ENSP00000356545:p.Gln375Leu	43.0	0.0		75.0	29.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	33	5.244349	0.95272	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.15	5.15	0.70609	.	0.358022	0.32736	N	0.005720	D	0.97467	0.9171	M	0.81341	2.54	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.70487	0.969;0.969	D	0.98080	1.0403	10	0.66056	D	0.02	.	14.6389	0.68708	1.0:0.0:0.0:0.0	.	375;375	Q15878-2;Q15878-3	.;.	L	375;375;375;326;326;375;375	ENSP00000432038:Q375L;ENSP00000356542:Q375L;ENSP00000434814:Q375L;ENSP00000350183:Q326L;ENSP00000351101:Q326L;ENSP00000353222:Q375L;ENSP00000356545:Q375L	ENSP00000350183:Q326L	Q	+	2	0	CACNA1E	179946781	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.197000	0.94985	1.943000	0.56356	0.533000	0.62120	CAG	.	.		0.562	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	hgsc.bcm.edu	37	1	181767600	181767600	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:181767600A>T	ENST00000367573.2	+	48	6572	c.6572A>T	c.(6571-6573)gAg>gTg	p.E2191V	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1755V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E2129V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2142V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2148V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2172V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2080V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2191					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAAGCGAGGAGGGCTCCCCG	0.642																																					p.E2191V		Atlas-SNP	.											.	CACNA1E	778	.	0			c.A6572T						.						60.0	70.0	66.0					1																	181767600		2092	4221	6313	SO:0001583	missense	777	exon48			GCGAGGAGGGCTC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6572A>T	chr1.hg19:g.181767600A>T	ENSP00000356545:p.Glu2191Val	54.0	0.0		82.0	22.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	6.716	0.500795	0.12822	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.91;-3.91;-3.9;-3.91;-3.97;-3.9;-3.9	5.55	3.48	0.39840	.	8.129080	0.00166	N	0.000009	D	0.92967	0.7762	N	0.22421	0.69	0.21897	N	0.999487	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.82641	-0.0357	10	0.32370	T	0.25	.	9.7176	0.40284	0.0825:0.0:0.7689:0.1486	.	2129;2148	Q15878-2;Q15878-3	.;.	V	2148;2129;2142;2080;1755;2172;2191	ENSP00000356542:E2148V;ENSP00000434814:E2129V;ENSP00000350183:E2142V;ENSP00000351101:E2080V;ENSP00000356539:E1755V;ENSP00000353222:E2172V;ENSP00000356545:E2191V	ENSP00000350183:E2142V	E	+	2	0	CACNA1E	180034223	0.984000	0.35163	0.899000	0.35326	0.256000	0.26092	2.044000	0.41241	1.325000	0.45301	-0.479000	0.04858	GAG	.	.		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
LAMC1	3915	hgsc.bcm.edu	37	1	183102629	183102629	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:183102629G>T	ENST00000258341.4	+	22	4050	c.3793G>T	c.(3793-3795)Gtg>Ttg	p.V1265L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1265	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGACAAAGCTGTGGAGATCTA	0.557																																					p.V1265L		Atlas-SNP	.											.	LAMC1	176	.	0			c.G3793T						.						134.0	133.0	133.0					1																	183102629		2203	4300	6503	SO:0001583	missense	3915	exon22			AAAGCTGTGGAGA	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3793G>T	chr1.hg19:g.183102629G>T	ENSP00000258341:p.Val1265Leu	86.0	0.0		165.0	45.0	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436745	0.12104	.	.	ENSG00000135862	ENST00000258341	T	0.21543	2.0	5.41	5.41	0.78517	.	0.063261	0.64402	D	0.000006	T	0.07818	0.0196	N	0.02286	-0.61	0.34667	D	0.723298	B	0.02656	0.0	B	0.04013	0.001	T	0.12372	-1.0550	10	0.02654	T	1	.	13.9261	0.63964	0.0:0.2675:0.7325:0.0	.	1265	P11047	LAMC1_HUMAN	L	1265	ENSP00000258341:V1265L	ENSP00000258341:V1265L	V	+	1	0	LAMC1	181369252	0.981000	0.34729	0.979000	0.43373	0.635000	0.38103	1.965000	0.40471	2.692000	0.91855	0.563000	0.77884	GTG	.	.		0.557	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
HMCN1	83872	hgsc.bcm.edu	37	1	185902889	185902889	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:185902889A>T	ENST00000271588.4	+	11	1990	c.1761A>T	c.(1759-1761)ggA>ggT	p.G587G	HMCN1_ENST00000367492.2_Silent_p.G587G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	587	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACGATGCTGGAGAGTATCATT	0.443																																					p.G587G		Atlas-SNP	.											.	HMCN1	797	.	0			c.A1761T						.						158.0	152.0	154.0					1																	185902889		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon11			TGCTGGAGAGTAT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1761A>T	chr1.hg19:g.185902889A>T		72.0	0.0		134.0	31.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	hgsc.bcm.edu	37	1	186092186	186092186	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:186092186A>G	ENST00000271588.4	+	81	12562	c.12333A>G	c.(12331-12333)acA>acG	p.T4111T	HMCN1_ENST00000367492.2_Silent_p.T4111T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4111	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACATTACATGGCATAAAG	0.517																																					p.T4111T		Atlas-SNP	.											.	HMCN1	797	.	0			c.A12333G						.						115.0	91.0	99.0					1																	186092186		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon81			CATTACATGGCAT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12333A>G	chr1.hg19:g.186092186A>G		63.0	0.0		131.0	44.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.517	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TPR	7175	hgsc.bcm.edu	37	1	186291450	186291450	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:186291450T>A	ENST00000367478.4	-	45	6757	c.6461A>T	c.(6460-6462)cAt>cTt	p.H2154L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2154					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATTAACTTACTGAATTGCTTC	0.333			T	NTRK1	papillary thyroid																																p.H2154L		Atlas-SNP	.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR	441	.	0			c.A6461T						.						78.0	73.0	74.0					1																	186291450		1853	4099	5952	SO:0001630	splice_region_variant	7175	exon45			ACTTACTGAATTG	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6461+1A>T	chr1.hg19:g.186291450T>A		252.0	0.0		459.0	98.0	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	hg19	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.872220	0.51695	.	.	ENSG00000047410	ENST00000367478	T	0.23147	1.92	5.13	5.13	0.70059	.	0.052767	0.85682	D	0.000000	T	0.30947	0.0781	M	0.72894	2.215	0.80722	D	1	B	0.28636	0.218	B	0.29440	0.102	T	0.06991	-1.0796	9	.	.	.	.	15.2344	0.73416	0.0:0.0:0.0:1.0	.	2154	P12270	TPR_HUMAN	L	2154	ENSP00000356448:H2154L	.	H	-	2	0	TPR	184558073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.744000	0.62118	2.060000	0.61445	0.528000	0.53228	CAT	.	.		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	Missense_Mutation
TPR	7175	hgsc.bcm.edu	37	1	186324666	186324666	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:186324666T>G	ENST00000367478.4	-	17	2343	c.2047A>C	c.(2047-2049)Aaa>Caa	p.K683Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	683					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTTTTTTGTAGTTCTCA	0.323			T	NTRK1	papillary thyroid																																p.K683Q		Atlas-SNP	.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR	441	.	0			c.A2047C						.						85.0	77.0	79.0					1																	186324666		1795	4067	5862	SO:0001583	missense	7175	exon17			CTTTTTTGTAGTT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2047A>C	chr1.hg19:g.186324666T>G	ENSP00000356448:p.Lys683Gln	93.0	0.0		202.0	10.0	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	hg19	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454264	0.84209	.	.	ENSG00000047410	ENST00000367478	T	0.18657	2.2	5.22	5.22	0.72569	.	0.047201	0.85682	D	0.000000	T	0.42291	0.1196	M	0.72894	2.215	0.49130	D	0.999757	D	0.69078	0.997	P	0.61874	0.895	T	0.21586	-1.0241	10	0.33940	T	0.23	.	15.3973	0.74805	0.0:0.0:0.0:1.0	.	683	P12270	TPR_HUMAN	Q	683	ENSP00000356448:K683Q	ENSP00000356448:K683Q	K	-	1	0	TPR	184591289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.552000	0.82192	2.106000	0.64143	0.482000	0.46254	AAA	.	.		0.323	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	hgsc.bcm.edu	37	1	186327705	186327705	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:186327705C>G	ENST00000367478.4	-	13	1763	c.1467G>C	c.(1465-1467)atG>atC	p.M489I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	489	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTGTATTTCCATTCTTCGAT	0.338			T	NTRK1	papillary thyroid																																p.M489I		Atlas-SNP	.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	TPR	441	.	0			c.G1467C						.						180.0	169.0	172.0					1																	186327705		1864	4098	5962	SO:0001583	missense	7175	exon13			TATTTCCATTCTT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1467G>C	chr1.hg19:g.186327705C>G	ENSP00000356448:p.Met489Ile	78.0	0.0		120.0	79.0	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	hg19	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134750	0.37728	.	.	ENSG00000047410	ENST00000367478	T	0.00949	5.51	5.25	5.25	0.73442	.	0.245265	0.45126	D	0.000390	T	0.01156	0.0038	L	0.27053	0.805	0.31545	N	0.65947	B;B	0.18610	0.029;0.013	B;B	0.20384	0.029;0.004	T	0.39121	-0.9629	10	0.44086	T	0.13	.	15.2379	0.73447	0.0:0.8592:0.1408:0.0	.	489;489	Q15624;P12270	.;TPR_HUMAN	I	489	ENSP00000356448:M489I	ENSP00000356448:M489I	M	-	3	0	TPR	184594328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.943000	0.40253	2.473000	0.83533	0.655000	0.94253	ATG	.	.		0.338	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PTGS2	5743	hgsc.bcm.edu	37	1	186645249	186645249	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:186645249T>C	ENST00000367468.5	-	8	1174	c.1038A>G	c.(1036-1038)aaA>aaG	p.K346K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	346					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CTGGGTCAAATTTCAGTTTGA	0.353																																					p.K346K		Atlas-SNP	.											.	PTGS2	144	.	0			c.A1038G						.						132.0	134.0	134.0					1																	186645249		2203	4300	6503	SO:0001819	synonymous_variant	5743	exon8			GTCAAATTTCAGT	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1038A>G	chr1.hg19:g.186645249T>C		129.0	0.0		214.0	147.0	NM_000963	A8K802|Q16876	Silent	SNP	ENST00000367468.5	hg19	CCDS1371.1																																																																																			.	.		0.353	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	
UCHL5	51377	hgsc.bcm.edu	37	1	192993077	192993077	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:192993077C>A	ENST00000367455.4	-	8	865		c.e8-1		UCHL5_ENST00000530098.2_Splice_Site|UCHL5_ENST00000367454.1_Splice_Site|UCHL5_ENST00000367448.1_Splice_Site|UCHL5_ENST00000367451.4_Splice_Site|UCHL5_ENST00000367452.4_Splice_Site|UCHL5_ENST00000367449.1_Splice_Site	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTCACTGTACCTAGAAGAAAA	0.303																																					.		Atlas-SNP	.											UCHL5,NS,carcinoma,0,1	UCHL5	41	.	1	Unknown(1)	lung(1)	c.630-1G>T						.						68.0	70.0	69.0					1																	192993077		2202	4298	6500	SO:0001630	splice_region_variant	51377	exon9			CTGTACCTAGAAG		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.630-1G>T	chr1.hg19:g.192993077C>A		52.0	0.0		132.0	45.0	NM_015984	Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Splice_Site	SNP	ENST00000367455.4	hg19	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860595	0.71834	.	.	ENSG00000116750	ENST00000420791;ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000443327;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7965	0.91995	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UCHL5	191259700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.510000	0.84645	0.650000	0.86243	.	.	.		0.303	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984	Intron
TROVE2	6738	hgsc.bcm.edu	37	1	193045014	193045014	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:193045014A>G	ENST00000367446.3	+	3	855	c.645A>G	c.(643-645)gaA>gaG	p.E215E	TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367441.1_Silent_p.E215E|TROVE2_ENST00000400968.2_Silent_p.E215E|TROVE2_ENST00000367445.3_Silent_p.E215E|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Silent_p.E215E|TROVE2_ENST00000367443.1_Silent_p.E215E|TROVE2_ENST00000416058.2_5'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	215	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGTATAAAGAAAAAGCACTCT	0.353																																					p.E215E		Atlas-SNP	.											.	TROVE2	50	.	0			c.A645G						.						82.0	86.0	85.0					1																	193045014		1811	4069	5880	SO:0001819	synonymous_variant	6738	exon3			TAAAGAAAAAGCA	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.645A>G	chr1.hg19:g.193045014A>G		161.0	0.0		330.0	104.0	NM_004600	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	hg19	CCDS1379.1																																																																																			.	.		0.353	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
NEK7	140609	hgsc.bcm.edu	37	1	198233311	198233311	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:198233311A>G	ENST00000367385.4	+	5	660	c.318A>G	c.(316-318)gaA>gaG	p.E106E	NEK7_ENST00000538004.1_Silent_p.E106E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AAGATAATGAACTAAACATAG	0.294																																					p.E106E		Atlas-SNP	.											.	NEK7	42	.	0			c.A318G						.						88.0	97.0	94.0					1																	198233311		2203	4296	6499	SO:0001819	synonymous_variant	140609	exon5			TAATGAACTAAAC	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.318A>G	chr1.hg19:g.198233311A>G		362.0	0.0		194.0	158.0	NM_133494	A6NGT8	Silent	SNP	ENST00000367385.4	hg19	CCDS1394.1																																																																																			.	.		0.294	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	
C1orf106	55765	hgsc.bcm.edu	37	1	200877954	200877954	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:200877954C>T	ENST00000367342.4	+	7	1126	c.926C>T	c.(925-927)cCt>cTt	p.P309L	C1orf106_ENST00000413687.2_Missense_Mutation_p.P224L	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	309	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCAACAGGACCTGAGGCTGGG	0.617																																					p.P323L		Atlas-SNP	.											.	C1orf106	59	.	0			c.C968T						.						54.0	63.0	60.0					1																	200877954		2203	4300	6503	SO:0001583	missense	55765	exon7			CAGGACCTGAGGC	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.926C>T	chr1.hg19:g.200877954C>T	ENSP00000356311:p.Pro309Leu	291.0	0.0		157.0	13.0	NM_018265	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	hg19		.	.	.	.	.	.	.	.	.	.	C	11.78	1.741871	0.30865	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.44881	0.91;0.93	5.02	3.14	0.36123	.	0.754737	0.11602	N	0.547689	T	0.44138	0.1279	L	0.60455	1.87	0.18873	N	0.999982	D	0.59357	0.985	P	0.53360	0.724	T	0.23691	-1.0181	10	0.13470	T	0.59	-8.9635	4.7344	0.12981	0.1714:0.6444:0.0:0.1842	.	309	Q3KP66	CA106_HUMAN	L	309;224	ENSP00000356311:P309L;ENSP00000392105:P224L	ENSP00000356311:P309L	P	+	2	0	C1orf106	199144577	0.001000	0.12720	0.024000	0.17045	0.156000	0.22039	0.480000	0.22244	0.514000	0.28300	0.557000	0.71058	CCT	.	.		0.617	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265	
LGR6	59352	hgsc.bcm.edu	37	1	202287908	202287908	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:202287908T>A	ENST00000367278.3	+	18	2566	c.2477T>A	c.(2476-2478)cTg>cAg	p.L826Q	LGR6_ENST00000439764.2_Missense_Mutation_p.L687Q|LGR6_ENST00000255432.7_Missense_Mutation_p.L774Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	826					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AACCCACTGCTGTACCTGCTC	0.677																																					p.L826Q		Atlas-SNP	.											.	LGR6	102	.	0			c.T2477A						.						105.0	101.0	102.0					1																	202287908		2203	4300	6503	SO:0001583	missense	59352	exon18			CACTGCTGTACCT	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2477T>A	chr1.hg19:g.202287908T>A	ENSP00000356247:p.Leu826Gln	50.0	0.0		16.0	15.0	NM_001017403	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	hg19	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161088	0.78226	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.44482	0.92;0.92;0.92	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.69401	-0.5155	10	0.87932	D	0	.	14.4872	0.67626	0.0:0.0:0.0:1.0	.	687;774;826	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	Q	826;774;687	ENSP00000356247:L826Q;ENSP00000255432:L774Q;ENSP00000387869:L687Q	ENSP00000255432:L774Q	L	+	2	0	LGR6	200554531	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.777000	0.85628	2.077000	0.62373	0.397000	0.26171	CTG	.	.		0.677	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
SLC26A9	115019	hgsc.bcm.edu	37	1	205884091	205884091	+	3'UTR	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:205884091A>G	ENST00000367135.3	-	0	2883				SLC26A9_ENST00000340781.4_Missense_Mutation_p.Y865H|SLC26A9_ENST00000367134.2_Missense_Mutation_p.Y865H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGAAGCTTGTACAGCAGGCCA	0.527																																					p.Y865H		Atlas-SNP	.											.	SLC26A9	176	.	0			c.T2593C						.						149.0	140.0	143.0					1																	205884091		2203	4300	6503	SO:0001624	3_prime_UTR_variant	115019	exon22			GCTTGTACAGCAG	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.*394T>C	chr1.hg19:g.205884091A>G		110.0	0.0		40.0	35.0	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	hg19	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365044	0.41902	.	.	ENSG00000174502	ENST00000340781;ENST00000367134	D;D	0.93659	-3.26;-3.26	4.53	-1.25	0.09405	.	9.319370	0.00166	N	0.000001	D	0.85881	0.5800	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.76217	-0.3040	10	0.87932	D	0	.	8.2911	0.31958	0.475:0.0:0.525:0.0	.	865;112	B1AVM8;Q8NAY2	.;.	H	865	ENSP00000341682:Y865H;ENSP00000356102:Y865H	ENSP00000341682:Y865H	Y	-	1	0	SLC26A9	204150714	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-0.050000	0.11904	-0.237000	0.09739	0.379000	0.24179	TAC	.	.		0.527	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
SLC26A9	115019	hgsc.bcm.edu	37	1	205897161	205897161	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:205897161A>T	ENST00000367135.3	-	9	1083	c.970T>A	c.(970-972)Tcg>Acg	p.S324T	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324T|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACCACAGGCGACACCGGGGTG	0.627																																					p.S324T		Atlas-SNP	.											.	SLC26A9	176	.	0			c.T970A						.						47.0	44.0	45.0					1																	205897161		2203	4300	6503	SO:0001583	missense	115019	exon9			CAGGCGACACCGG	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.970T>A	chr1.hg19:g.205897161A>T	ENSP00000356103:p.Ser324Thr	58.0	0.0		32.0	28.0	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	hg19	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	A	6.479	0.456480	0.12283	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92595	-3.07;-3.07;-3.07	5.08	1.45	0.22620	Sulphate transporter (1);	0.940463	0.08820	N	0.888975	T	0.75004	0.3791	N	0.02842	-0.48	0.09310	N	1	B;B	0.27791	0.014;0.189	B;B	0.25614	0.023;0.062	T	0.64952	-0.6286	10	0.12430	T	0.62	.	1.1592	0.01802	0.3407:0.289:0.2385:0.1318	.	324;324	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	324	ENSP00000341682:S324T;ENSP00000356103:S324T;ENSP00000356102:S324T	ENSP00000341682:S324T	S	-	1	0	SLC26A9	204163784	0.000000	0.05858	0.089000	0.20774	0.608000	0.37181	0.264000	0.18497	0.080000	0.16959	0.533000	0.62120	TCG	.	.		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
CR1	1378	hgsc.bcm.edu	37	1	207741308	207741308	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:207741308A>G	ENST00000367049.4	+	25	4092	c.4092A>G	c.(4090-4092)ggA>ggG	p.G1364G	CR1_ENST00000367051.1_Silent_p.G914G|CR1_ENST00000367053.1_Silent_p.G914G|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Silent_p.G914G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	914	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTCATTGGAGAGAGCACCA	0.542																																					p.G1364G		Atlas-SNP	.											.	CR1	354	.	0			c.A4092G						.						88.0	107.0	101.0					1																	207741308		1815	4081	5896	SO:0001819	synonymous_variant	1378	exon25			CATTGGAGAGAGC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4092A>G	chr1.hg19:g.207741308A>G		258.0	0.0		143.0	108.0	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	hg19	CCDS44308.1																																																																																			.	.		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
RCOR3	55758	hgsc.bcm.edu	37	1	211447593	211447593	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:211447593A>G	ENST00000367005.4	+	3	310	c.169A>G	c.(169-171)Aat>Gat	p.N57D	RCOR3_ENST00000419091.2_Missense_Mutation_p.N115D|RCOR3_ENST00000452621.2_Missense_Mutation_p.N115D|RCOR3_ENST00000367006.4_Missense_Mutation_p.N115D	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	57	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GCATGGCTACAATGTGGAACA	0.338																																					p.N115D		Atlas-SNP	.											.	RCOR3	51	.	0			c.A343G						.						84.0	73.0	77.0					1																	211447593		2203	4300	6503	SO:0001583	missense	55758	exon4			GGCTACAATGTGG	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.169A>G	chr1.hg19:g.211447593A>G	ENSP00000355972:p.Asn57Asp	417.0	0.0		201.0	158.0	NM_001136223	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	hg19	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378708	0.82682	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.58	4.45	0.53987	ELM2 domain (1);	0.041188	0.85682	N	0.000000	T	0.64294	0.2585	M	0.74389	2.26	0.58432	D	0.999999	B;D;P;D	0.89917	0.02;1.0;0.854;1.0	B;D;P;D	0.80764	0.016;0.987;0.77;0.994	T	0.61955	-0.6956	10	0.21014	T	0.42	-20.2804	11.5871	0.50925	0.9296:0.0:0.0704:0.0	.	115;57;115;115	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	D	57;57;115;115;115;57	ENSP00000436057:N57D;ENSP00000436838:N57D;ENSP00000355973:N115D;ENSP00000398558:N115D;ENSP00000413929:N115D;ENSP00000355972:N57D	ENSP00000355972:N57D	N	+	1	0	RCOR3	209514216	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.236000	0.95360	1.045000	0.40225	0.477000	0.44152	AAT	.	.		0.338	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
RPS6KC1	26750	hgsc.bcm.edu	37	1	213303010	213303010	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:213303010G>T	ENST00000366960.3	+	6	763	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G193W|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G24W	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	205					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TTCAGCACTAGGGGCTGTTGC	0.443																																					p.G205W		Atlas-SNP	.											.	RPS6KC1	114	.	0			c.G613T						.						87.0	88.0	87.0					1																	213303010		2203	4300	6503	SO:0001583	missense	26750	exon6			GCACTAGGGGCTG	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.613G>T	chr1.hg19:g.213303010G>T	ENSP00000355927:p.Gly205Trp	89.0	0.0		39.0	27.0	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	hg19	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505889	0.64410	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.33865	1.39;1.49;1.49	5.54	5.54	0.83059	.	0.531595	0.21576	N	0.072327	T	0.42720	0.1215	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.69654	0.965;0.924;0.924	T	0.37430	-0.9706	10	0.87932	D	0	-24.9991	9.7173	0.40283	0.1579:0.0:0.8421:0.0	.	24;205;193	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	W	24;205;193	ENSP00000442306:G24W;ENSP00000355927:G205W;ENSP00000355926:G193W	ENSP00000355926:G193W	G	+	1	0	RPS6KC1	211369633	0.979000	0.34478	0.996000	0.52242	0.994000	0.84299	3.138000	0.50570	2.605000	0.88082	0.591000	0.81541	GGG	.	.		0.443	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
CENPF	1063	hgsc.bcm.edu	37	1	214818921	214818921	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:214818921A>T	ENST00000366955.3	+	13	6176	c.6008A>T	c.(6007-6009)cAg>cTg	p.Q2003L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2099					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATTGCATTCAGGTGGCAGAG	0.433																																					p.Q2003L	Colon(80;575 1284 11000 14801 43496)	Atlas-SNP	.											.	CENPF	321	.	0			c.A6008T						.						77.0	77.0	77.0					1																	214818921		2203	4300	6503	SO:0001583	missense	1063	exon13			GCATTCAGGTGGC	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6008A>T	chr1.hg19:g.214818921A>T	ENSP00000355922:p.Gln2003Leu	134.0	0.0		73.0	60.0	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	hg19	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	2.986	-0.209229	0.06140	.	.	ENSG00000117724	ENST00000366955	T	0.45276	0.9	4.98	1.38	0.22167	.	1.241830	0.06074	N	0.660694	T	0.26484	0.0647	N	0.19112	0.55	0.09310	N	1	B	0.33073	0.396	B	0.26969	0.075	T	0.18493	-1.0335	10	0.30078	T	0.28	.	8.5774	0.33607	0.5862:0.0:0.4138:0.0	.	2099	P49454	CENPF_HUMAN	L	2003	ENSP00000355922:Q2003L	ENSP00000355922:Q2003L	Q	+	2	0	CENPF	212885544	0.002000	0.14202	0.000000	0.03702	0.036000	0.12997	1.288000	0.33296	-0.009000	0.14296	0.496000	0.49642	CAG	.	.		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
USH2A	7399	hgsc.bcm.edu	37	1	216373134	216373134	+	Missense_Mutation	SNP	A	A	T	rs376703788		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:216373134A>T	ENST00000307340.3	-	17	4032	c.3646T>A	c.(3646-3648)Tac>Aac	p.Y1216N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Y1216N|USH2A_ENST00000366942.3_Missense_Mutation_p.Y1216N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1216	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAAAATCGTACTTGGCAAAT	0.517										HNSCC(13;0.011)																											p.Y1216N		Atlas-SNP	.											.	USH2A	1168	.	0			c.T3646A						.						87.0	90.0	89.0					1																	216373134		2203	4300	6503	SO:0001583	missense	7399	exon17			AATCGTACTTGGC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3646T>A	chr1.hg19:g.216373134A>T	ENSP00000305941:p.Tyr1216Asn	147.0	1.0		83.0	67.0	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594957	0.46318	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.89270	-2.49;-2.49;-2.49	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40818	N	0.001017	D	0.95198	0.8443	M	0.86343	2.81	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95776	0.8813	10	0.87932	D	0	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1216;1216	O75445-2;O75445	.;USH2A_HUMAN	N	1216	ENSP00000305941:Y1216N;ENSP00000355910:Y1216N;ENSP00000355909:Y1216N	ENSP00000305941:Y1216N	Y	-	1	0	USH2A	214439757	1.000000	0.71417	0.215000	0.23724	0.068000	0.16541	4.497000	0.60367	2.371000	0.80710	0.533000	0.62120	TAC	.	.		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ITPKB	3707	hgsc.bcm.edu	37	1	226835068	226835068	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:226835068T>A	ENST00000272117.3	-	3	2045	c.2046A>T	c.(2044-2046)gcA>gcT	p.A682A	ITPKB_ENST00000429204.1_Silent_p.A682A			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	682					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CATTGGCAGCTGCCTTGAAAC	0.617																																					p.A682A	Colon(84;110 1851 5306 33547)	Atlas-SNP	.											.	ITPKB	158	.	0			c.A2046T						.						51.0	49.0	49.0					1																	226835068		2203	4300	6503	SO:0001819	synonymous_variant	3707	exon4			GGCAGCTGCCTTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2046A>T	chr1.hg19:g.226835068T>A		44.0	0.0		17.0	15.0	NM_002221	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	hg19	CCDS1555.1																																																																																			.	.		0.617	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221	
URB2	9816	hgsc.bcm.edu	37	1	229773082	229773082	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:229773082A>T	ENST00000258243.2	+	4	2858	c.2722A>T	c.(2722-2724)Agc>Tgc	p.S908C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	908						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACAGCTGGACAGCCTCTTGCC	0.507																																					p.S908C		Atlas-SNP	.											.	URB2	152	.	0			c.A2722T						.						210.0	201.0	204.0					1																	229773082		2203	4300	6503	SO:0001583	missense	9816	exon4			CTGGACAGCCTCT	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2722A>T	chr1.hg19:g.229773082A>T	ENSP00000258243:p.Ser908Cys	59.0	0.0		33.0	31.0	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	hg19	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368971	0.42003	.	.	ENSG00000135763	ENST00000258243	T	0.36520	1.25	5.35	1.68	0.24146	.	0.193490	0.56097	D	0.000033	T	0.32852	0.0843	L	0.32530	0.975	0.42359	D	0.9924	D	0.64830	0.994	P	0.54401	0.751	T	0.05989	-1.0852	9	.	.	.	-12.1955	5.8712	0.18805	0.731:0.0:0.1433:0.1256	.	908	Q14146	URB2_HUMAN	C	908	ENSP00000258243:S908C	.	S	+	1	0	URB2	227839705	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	2.016000	0.40971	0.992000	0.38840	-0.334000	0.08254	AGC	.	.		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
SIPA1L2	57568	hgsc.bcm.edu	37	1	232577103	232577103	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:232577103A>T	ENST00000366630.1	-	13	3934	c.3576T>A	c.(3574-3576)ggT>ggA	p.G1192G	SIPA1L2_ENST00000308942.4_Silent_p.G266G|SIPA1L2_ENST00000262861.4_Silent_p.G1192G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1192					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTATAGGAACCCAGGACTT	0.413																																					p.G1192G		Atlas-SNP	.											.	SIPA1L2	218	.	0			c.T3576A						.						239.0	247.0	244.0					1																	232577103		1828	4085	5913	SO:0001819	synonymous_variant	57568	exon12			ATAGGAACCCAGG	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3576T>A	chr1.hg19:g.232577103A>T		32.0	0.0		20.0	20.0	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	hg19	CCDS41474.1																																																																																			.	.		0.413	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
PCNXL2	80003	hgsc.bcm.edu	37	1	233353792	233353792	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:233353792C>A	ENST00000258229.9	-	11	2877	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q14H|PCNXL2_ENST00000430153.1_Missense_Mutation_p.Q180H	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	881						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAGGGAGTACTGGCAGCTGG	0.478																																					p.Q881H		Atlas-SNP	.											.	PCNXL2	204	.	0			c.G2643T						.						70.0	70.0	70.0					1																	233353792		2045	4214	6259	SO:0001583	missense	80003	exon11			GGAGTACTGGCAG	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2643G>T	chr1.hg19:g.233353792C>A	ENSP00000258229:p.Gln881His	153.0	0.0		79.0	69.0	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	hg19	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225557	0.58668	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351;ENST00000430153	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.52	4.61	0.57282	.	.	.	.	.	T	0.79446	0.4447	L	0.56396	1.775	0.46185	D	0.998917	D;P	0.76494	0.999;0.666	D;B	0.85130	0.997;0.376	T	0.80529	-0.1342	9	0.87932	D	0	.	9.3781	0.38295	0.0:0.7834:0.0:0.2166	.	180;881	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	H	881;14;61;180	ENSP00000258229:Q881H;ENSP00000430820:Q14H;ENSP00000429231:Q61H;ENSP00000394703:Q180H	ENSP00000258229:Q881H	Q	-	3	2	PCNXL2	231420415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.105000	0.31086	1.465000	0.48006	0.650000	0.86243	CAG	.	.		0.478	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
GGPS1	9453	hgsc.bcm.edu	37	1	235505654	235505654	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:235505654G>A	ENST00000282841.5	+	4	702	c.470G>A	c.(469-471)gGa>gAa	p.G157E	GGPS1_ENST00000358966.2_Missense_Mutation_p.G157E|GGPS1_ENST00000391855.2_Missense_Mutation_p.G103E|GGPS1_ENST00000488594.1_Missense_Mutation_p.G157E|GGPS1_ENST00000476121.1_Missense_Mutation_p.G157E			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	157					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	GGACTGTTTGGATTAGCAGTA	0.393																																					p.G157E		Atlas-SNP	.											.	GGPS1	23	.	0			c.G470A						.						91.0	97.0	95.0					1																	235505654		2203	4300	6503	SO:0001583	missense	9453	exon4			TGTTTGGATTAGC	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.470G>A	chr1.hg19:g.235505654G>A	ENSP00000282841:p.Gly157Glu	114.0	0.0		55.0	46.0	NM_001037277	A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	hg19	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116305	0.77323	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	L	0.40543	1.245	0.80722	D	1	P	0.47910	0.902	P	0.49999	0.628	T	0.47407	-0.9120	10	0.10377	T	0.69	-24.1693	20.8794	0.99867	0.0:0.0:1.0:0.0	.	157	O95749	GGPPS_HUMAN	E	157;157;157;157;103;157;157	ENSP00000418690:G157E;ENSP00000417772:G157E;ENSP00000351852:G157E;ENSP00000282841:G157E;ENSP00000375728:G103E;ENSP00000420183:G157E;ENSP00000417865:G157E	ENSP00000282841:G157E	G	+	2	0	GGPS1	233572277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GGA	.	.		0.393	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837	
RYR2	6262	hgsc.bcm.edu	37	1	237872815	237872815	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:237872815A>T	ENST00000366574.2	+	70	10495	c.10178A>T	c.(10177-10179)gAg>gTg	p.E3393V	RYR2_ENST00000360064.6_Missense_Mutation_p.E3391V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E3377V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3393					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGAAGCAGAGGAGCTCTTC	0.408																																					p.E3393V		Atlas-SNP	.											.	RYR2	1273	.	0			c.A10178T						.						94.0	93.0	93.0					1																	237872815		1931	4131	6062	SO:0001583	missense	6262	exon70			AAGCAGAGGAGCT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10178A>T	chr1.hg19:g.237872815A>T	ENSP00000355533:p.Glu3393Val	68.0	0.0		36.0	25.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779029	0.90195	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97138	-0.27;-4.26;-0.27	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000005	D	0.97492	0.9179	M	0.77103	2.36	0.80722	D	1	D	0.62365	0.991	P	0.52217	0.693	D	0.98006	1.0363	10	0.87932	D	0	-17.4196	15.6035	0.76642	1.0:0.0:0.0:0.0	.	3393	Q92736	RYR2_HUMAN	V	3393;3391;3377;348	ENSP00000355533:E3393V;ENSP00000353174:E3391V;ENSP00000443798:E3377V	ENSP00000353174:E3391V	E	+	2	0	RYR2	235939438	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.288000	0.78691	2.082000	0.62665	0.533000	0.62120	GAG	.	.		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SDCCAG8	10806	hgsc.bcm.edu	37	1	243433405	243433405	+	Splice_Site	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:243433405A>C	ENST00000366541.3	+	2	185		c.e2-1		SDCCAG8_ENST00000355875.4_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site|SDCCAG8_ENST00000343783.6_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGTTCTTGCAGAACATGCCA	0.443																																					.		Atlas-SNP	.											.	SDCCAG8	73	.	0			c.68-2A>C						.						89.0	71.0	77.0					1																	243433405		2203	4300	6503	SO:0001630	splice_region_variant	10806	exon2			TCTTGCAGAACAT	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.68-1A>C	chr1.hg19:g.243433405A>C		69.0	0.0		30.0	27.0	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Splice_Site	SNP	ENST00000366541.3	hg19	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931596	0.73442	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8186	0.63308	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDCCAG8	241500028	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.412000	0.66392	2.311000	0.77944	0.533000	0.62120	.	.	.		0.443	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	Intron
ZNF669	79862	hgsc.bcm.edu	37	1	247264199	247264199	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:247264199C>A	ENST00000343381.6	-	4	1044	c.872G>T	c.(871-873)gGt>gTt	p.G291V	ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.G205V	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TAGACAAGAACCGGAAACAGT	0.363																																					p.G291V		Atlas-SNP	.											.	ZNF669	46	.	0			c.G872T						.						64.0	65.0	64.0					1																	247264199		2203	4300	6503	SO:0001583	missense	79862	exon4			CAAGAACCGGAAA		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.872G>T	chr1.hg19:g.247264199C>A	ENSP00000342818:p.Gly291Val	72.0	0.0		27.0	20.0	NM_024804	B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	hg19	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	9.506	1.104463	0.20632	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.01197	5.19;5.19	0.544	-0.578	0.11724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	L	0.53671	1.685	0.09310	N	0.999999	P;P	0.48162	0.89;0.906	B;P	0.46585	0.346;0.521	T	0.44997	-0.9291	9	0.72032	D	0.01	.	4.5429	0.12067	0.0:0.696:0.0:0.304	.	205;291	B3KP94;Q96BR6	.;ZN669_HUMAN	V	205;205;291	ENSP00000404370:G205V;ENSP00000342818:G291V	ENSP00000342818:G291V	G	-	2	0	ZNF669	245330822	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-0.514000	0.06298	-0.285000	0.09089	0.289000	0.19496	GGT	.	.		0.363	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804	
PXDN	7837	hgsc.bcm.edu	37	2	1667460	1667460	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:1667460T>A	ENST00000252804.4	-	12	1534	c.1484A>T	c.(1483-1485)cAc>cTc	p.H495L	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	495	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCCTGGTCGTGGAGGGCAAC	0.622																																					p.H495L		Atlas-SNP	.											.	PXDN	255	.	0			c.A1484T						.						83.0	91.0	88.0					2																	1667460		2050	4170	6220	SO:0001583	missense	7837	exon12			TGGTCGTGGAGGG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1484A>T	chr2.hg19:g.1667460T>A	ENSP00000252804:p.His495Leu	56.0	0.0		51.0	25.0	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	hg19	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.039528|4.039528	0.75732|0.75732	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.28895|.	1.59|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.114935|.	0.64402|.	D|.	0.000013|.	T|T	0.46405|0.46405	0.1391|0.1391	N|N	0.11673|0.11673	0.155|0.155	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.984;0.997|.	P;D|.	0.74023|.	0.839;0.982|.	T|T	0.44982|0.44982	-0.9292|-0.9292	10|5	0.59425|.	D|.	0.04|.	-37.822|-37.822	16.1224|16.1224	0.81369|0.81369	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	495;495|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	L|S	495|491	ENSP00000252804:H495L|.	ENSP00000252804:H495L|.	H|T	-|-	2|1	0|0	PXDN|PXDN	1646467|1646467	1.000000|1.000000	0.71417|0.71417	0.306000|0.306000	0.25113|0.25113	0.329000|0.329000	0.28539|0.28539	7.706000|7.706000	0.84615|0.84615	2.208000|2.208000	0.71279|0.71279	0.533000|0.533000	0.62120|0.62120	CAC|ACG	.	.		0.622	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
ADAM17	6868	hgsc.bcm.edu	37	2	9668050	9668050	+	Missense_Mutation	SNP	T	T	G	rs34431503	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:9668050T>G	ENST00000310823.3	-	5	666	c.484A>C	c.(484-486)Aaa>Caa	p.K162Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K162Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	162			K -> E (in dbSNP:rs34431503).		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AACATTCTTTTGTCTTTGGTA	0.299																																					p.K162Q		Atlas-SNP	.											.	ADAM17	61	.	0			c.A484C						.						74.0	74.0	74.0					2																	9668050		2203	4300	6503	SO:0001583	missense	6868	exon5			TTCTTTTGTCTTT	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.484A>C	chr2.hg19:g.9668050T>G	ENSP00000309968:p.Lys162Gln	83.0	0.0		75.0	41.0	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	hg19	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589233	0.46110	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.05925	3.37;3.37	5.43	5.43	0.79202	Peptidase M12B, propeptide (1);	0.381144	0.33515	N	0.004836	T	0.09291	0.0229	L	0.43152	1.355	0.24000	N	0.996219	D;B;D;B	0.55172	0.97;0.013;0.97;0.013	P;B;P;B	0.51101	0.659;0.063;0.524;0.063	T	0.29427	-1.0012	10	0.23891	T	0.37	.	8.0246	0.30430	0.0:0.1574:0.0:0.8426	.	162;162;162;162	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	Q	162	ENSP00000309968:K162Q;ENSP00000418728:K162Q	ENSP00000309968:K162Q	K	-	1	0	ADAM17	9585501	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.669000	0.54561	2.187000	0.69744	0.383000	0.25322	AAA	.	T|0.996;C|0.004		0.299	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
ROCK2	9475	hgsc.bcm.edu	37	2	11375944	11375944	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:11375944C>T	ENST00000315872.6	-	5	1055	c.607G>A	c.(607-609)Gat>Aat	p.D203N	ROCK2_ENST00000401753.1_5'Flank|ROCK2_ENST00000462366.1_5'Flank|RNU6-1081P_ENST00000384537.1_RNA	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	203	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTATTGCATCCAGAGCAAGA	0.413																																					p.D203N		Atlas-SNP	.											.	ROCK2	224	.	0			c.G607A						.						143.0	137.0	139.0					2																	11375944		2047	4234	6281	SO:0001583	missense	9475	exon5			TTGCATCCAGAGC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.607G>A	chr2.hg19:g.11375944C>T	ENSP00000317985:p.Asp203Asn	204.0	1.0		185.0	95.0	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	hg19	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850223	0.71719	.	.	ENSG00000134318	ENST00000315872	T	0.64260	-0.09	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047350	0.85682	D	0.000000	T	0.55529	0.1926	L	0.27975	0.815	0.80722	D	1	P	0.34892	0.474	B	0.42319	0.383	T	0.54860	-0.8230	10	0.39692	T	0.17	.	13.3502	0.60597	0.0:0.9281:0.0:0.0719	.	203	O75116	ROCK2_HUMAN	N	203	ENSP00000317985:D203N	ENSP00000261535:D203N	D	-	1	0	ROCK2	11293395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.965000	0.63708	2.767000	0.95098	0.591000	0.81541	GAT	.	.		0.413	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
NBAS	51594	hgsc.bcm.edu	37	2	15679482	15679482	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:15679482T>A	ENST00000281513.5	-	7	405		c.e7-2		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence						negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTTCGGAACTAGAACAAAAG	0.398																																					.		Atlas-SNP	.											NBAS,NS,adenocarcinoma,0,1	NBAS	246	.	0			c.380-2A>T						.						69.0	64.0	66.0					2																	15679482		2203	4300	6503	SO:0001630	splice_region_variant	51594	exon8			CGGAACTAGAACA	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.380-2A>T	chr2.hg19:g.15679482T>A		112.0	0.0		104.0	39.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Splice_Site	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379560	0.82682	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1095	0.81250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBAS	15596933	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.931000	0.87625	2.210000	0.71456	0.482000	0.46254	.	.	.		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Intron
GEN1	348654	hgsc.bcm.edu	37	2	17959314	17959314	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:17959314A>T	ENST00000381254.2	+	12	1462	c.1248A>T	c.(1246-1248)atA>atT	p.I416I	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Silent_p.I416I	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	416					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTTTGAAATAGAATGGGAAA	0.254								Homologous recombination																													p.I416I		Atlas-SNP	.											.	GEN1	79	.	0			c.A1248T						.						86.0	93.0	91.0					2																	17959314		2198	4275	6473	SO:0001819	synonymous_variant	348654	exon12			TGAAATAGAATGG	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1248A>T	chr2.hg19:g.17959314A>T		276.0	0.0		290.0	145.0	NM_182625	Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	hg19	CCDS1691.1																																																																																			.	.		0.254	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
RDH14	57665	hgsc.bcm.edu	37	2	18736712	18736712	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:18736712T>C	ENST00000381249.3	-	2	863	c.756A>G	c.(754-756)acA>acG	p.T252T	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	252					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	TCCCCAGATTTGTCCGTACAA	0.468																																					p.T566T		Atlas-SNP	.											.	.	.	.	0			c.A1698G						.						188.0	180.0	183.0					2																	18736712		2203	4299	6502	SO:0001819	synonymous_variant	100526794	exon9			CAGATTTGTCCGT	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.756A>G	chr2.hg19:g.18736712T>C		160.0	0.0		140.0	65.0	NM_001199103		Silent	SNP	ENST00000381249.3	hg19	CCDS1693.1																																																																																			.	.		0.468	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1		
APOB	338	hgsc.bcm.edu	37	2	21231036	21231036	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:21231036T>A	ENST00000233242.1	-	26	8831	c.8704A>T	c.(8704-8706)Agt>Tgt	p.S2902C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2902					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCCTGACTAGAGAAGTCC	0.463																																					p.S2902C		Atlas-SNP	.											.	APOB	761	.	0			c.A8704T						.						174.0	170.0	171.0					2																	21231036		2203	4299	6502	SO:0001583	missense	338	exon26			CCTGACTAGAGAA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8704A>T	chr2.hg19:g.21231036T>A	ENSP00000233242:p.Ser2902Cys	106.0	0.0		107.0	49.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791695	0.70452	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01159	5.25	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000008	T	0.06962	0.0177	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02026	-1.1227	10	0.87932	D	0	.	15.6927	0.77466	0.0:0.0:0.0:1.0	.	2902	P04114	APOB_HUMAN	C	2902	ENSP00000233242:S2902C	ENSP00000233242:S2902C	S	-	1	0	APOB	21084541	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.067000	0.64357	2.186000	0.69663	0.454000	0.30748	AGT	.	.		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
OTOF	9381	hgsc.bcm.edu	37	2	26699020	26699020	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:26699020G>A	ENST00000272371.2	-	23	2968	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	OTOF_ENST00000402415.3_Missense_Mutation_p.P258S|OTOF_ENST00000338581.6_Missense_Mutation_p.P201S|OTOF_ENST00000339598.3_Missense_Mutation_p.P201S|OTOF_ENST00000403946.3_Missense_Mutation_p.P948S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	948	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACGGGTGGGAAGGCATGC	0.672																																					p.P948S	GBM(102;732 1451 20652 24062 31372)	Atlas-SNP	.											.	OTOF	524	.	0			c.C2842T						.						34.0	36.0	35.0					2																	26699020		2202	4299	6501	SO:0001583	missense	9381	exon23			CGGGTGGGAAGGC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2842C>T	chr2.hg19:g.26699020G>A	ENSP00000272371:p.Pro948Ser	44.0	0.0		49.0	18.0	NM_194248	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973095	0.74246	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	D;D;D;D;D	0.84146	-1.56;-1.57;-1.5;-1.81;-1.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.55834	1.745	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.929	D;D;D;P	0.97110	0.996;0.947;1.0;0.729	D	0.91161	0.4961	10	0.59425	D	0.04	-18.1095	18.7824	0.91939	0.0:0.0:1.0:0.0	.	948;201;258;201	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	201;201;258;948;948	ENSP00000345137:P201S;ENSP00000344521:P201S;ENSP00000383906:P258S;ENSP00000272371:P948S;ENSP00000385255:P948S	ENSP00000272371:P948S	P	-	1	0	OTOF	26552524	1.000000	0.71417	0.994000	0.49952	0.284000	0.27059	9.614000	0.98353	2.546000	0.85860	0.561000	0.74099	CCA	.	.		0.672	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
C2orf71	388939	hgsc.bcm.edu	37	2	29296302	29296302	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:29296302T>A	ENST00000331664.5	-	1	825	c.826A>T	c.(826-828)Agc>Tgc	p.S276C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	276					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCAGCTTGCTGACTGTGTAC	0.577																																					p.S276C		Atlas-SNP	.											.	C2orf71	146	.	0			c.A826T						.						74.0	76.0	76.0					2																	29296302		2032	4191	6223	SO:0001583	missense	388939	exon1			GCTTGCTGACTGT		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.826A>T	chr2.hg19:g.29296302T>A	ENSP00000332809:p.Ser276Cys	60.0	0.0		53.0	22.0	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	hg19	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466188	0.63625	.	.	ENSG00000179270	ENST00000331664	T	0.22945	1.93	5.62	0.162	0.14981	.	0.536026	0.22033	N	0.065562	T	0.20780	0.0500	L	0.60455	1.87	0.28309	N	0.922755	B	0.18610	0.029	B	0.19666	0.026	T	0.17349	-1.0372	10	0.72032	D	0.01	-3.1826	3.8524	0.08960	0.2595:0.1592:0.0:0.5813	.	276	A6NGG8	CB071_HUMAN	C	276	ENSP00000332809:S276C	ENSP00000332809:S276C	S	-	1	0	C2orf71	29149806	1.000000	0.71417	0.847000	0.33407	0.965000	0.64279	1.869000	0.39519	-0.202000	0.10268	0.459000	0.35465	AGC	.	.		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
CAPN13	92291	hgsc.bcm.edu	37	2	30966296	30966296	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:30966296T>A	ENST00000295055.8	-	13	1574	c.1398A>T	c.(1396-1398)tcA>tcT	p.S466S	CAPN13_ENST00000534090.2_Silent_p.S466S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	466					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGAACTCCGCTGATTTTCTCC	0.423																																					p.S466S		Atlas-SNP	.											.	CAPN13	70	.	0			c.A1398T						.						256.0	247.0	250.0					2																	30966296		1887	4133	6020	SO:0001819	synonymous_variant	92291	exon13			CTCCGCTGATTTT		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1398A>T	chr2.hg19:g.30966296T>A		132.0	0.0		104.0	44.0	NM_144575	Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	hg19	CCDS46252.1																																																																																			.	.		0.423	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
BIRC6	57448	hgsc.bcm.edu	37	2	32726807	32726807	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:32726807A>C	ENST00000421745.2	+	47	9193	c.9059A>C	c.(9058-9060)cAt>cCt	p.H3020P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3020					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)					CTCACTAAACATGAAAACTTT	0.388																																					p.H3020P	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.A9059C						.						102.0	102.0	102.0					2																	32726807		2203	4300	6503	SO:0001583	missense	57448	exon47			CTAAACATGAAAA	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.9059A>C	chr2.hg19:g.32726807A>C	ENSP00000393596:p.His3020Pro	94.0	0.0		88.0	28.0	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458620	0.63401	.	.	ENSG00000115760	ENST00000421745	T	0.74209	-0.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.80630	-0.1297	10	0.38643	T	0.18	.	16.1115	0.81266	1.0:0.0:0.0:0.0	.	3020	Q9NR09	BIRC6_HUMAN	P	3020	ENSP00000393596:H3020P	ENSP00000393596:H3020P	H	+	2	0	BIRC6	32580311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.207000	0.71202	0.460000	0.39030	CAT	.	.		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	hgsc.bcm.edu	37	2	32750644	32750644	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:32750644A>C	ENST00000421745.2	+	59	12003	c.11869A>C	c.(11869-11871)Aac>Cac	p.N3957H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3957					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)					AGAGGCTGCCAACAAAATAAT	0.428																																					p.N3957H	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.A11869C						.						80.0	79.0	79.0					2																	32750644		2203	4300	6503	SO:0001583	missense	57448	exon59			GCTGCCAACAAAA	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.11869A>C	chr2.hg19:g.32750644A>C	ENSP00000393596:p.Asn3957His	109.0	0.0		112.0	37.0	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806950	0.50421	.	.	ENSG00000115760	ENST00000421745	T	0.75938	-0.98	5.47	4.32	0.51571	.	0.533103	0.21955	N	0.066669	T	0.54447	0.1859	N	0.08118	0	0.24490	N	0.994304	B	0.25955	0.138	B	0.21917	0.037	T	0.51576	-0.8688	10	0.62326	D	0.03	.	11.0191	0.47707	0.9269:0.0:0.0731:0.0	.	3957	Q9NR09	BIRC6_HUMAN	H	3957	ENSP00000393596:N3957H	ENSP00000393596:N3957H	N	+	1	0	BIRC6	32604148	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	4.717000	0.61923	0.924000	0.37069	0.459000	0.35465	AAC	.	.		0.428	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
TTC27	55622	hgsc.bcm.edu	37	2	32891805	32891805	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:32891805A>T	ENST00000317907.4	+	7	1140	c.909A>T	c.(907-909)ccA>ccT	p.P303P		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	303										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATTCACTCCAGCACCCACTC	0.388																																					p.P303P		Atlas-SNP	.											.	TTC27	71	.	0			c.A909T						.						111.0	106.0	108.0					2																	32891805		2203	4300	6503	SO:0001819	synonymous_variant	55622	exon7			CACTCCAGCACCC	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.909A>T	chr2.hg19:g.32891805A>T		107.0	0.0		54.0	28.0	NM_017735	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	hg19	CCDS33176.1																																																																																			.	.		0.388	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
VIT	5212	hgsc.bcm.edu	37	2	36982076	36982076	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:36982076T>A	ENST00000389975.3	+	5	590	c.288T>A	c.(286-288)gaT>gaA	p.D96E	VIT_ENST00000401530.1_Missense_Mutation_p.D96E|VIT_ENST00000404084.1_Missense_Mutation_p.D74E|VIT_ENST00000379241.3_Missense_Mutation_p.D96E|VIT_ENST00000379242.3_Missense_Mutation_p.D96E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.D96E	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	96	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GTGTGCTTGATAATTCAGGAG	0.398																																					p.D96E		Atlas-SNP	.											.	VIT	138	.	0			c.T288A						.						157.0	147.0	150.0					2																	36982076		2203	4300	6503	SO:0001583	missense	5212	exon5			GCTTGATAATTCA	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.288T>A	chr2.hg19:g.36982076T>A	ENSP00000374625:p.Asp96Glu	97.0	0.0		99.0	39.0	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	hg19	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200596	0.58126	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.63	3.26	0.37387	LCCL (5);	0.314570	0.38217	N	0.001775	D	0.90065	0.6897	L	0.58669	1.825	0.33398	D	0.577005	D;D;P;D;P;D	0.62365	0.966;0.96;0.887;0.96;0.95;0.991	P;P;P;P;P;D	0.63877	0.785;0.814;0.469;0.814;0.716;0.919	D	0.89590	0.3827	10	0.49607	T	0.09	-4.6397	4.0824	0.09932	0.1687:0.1489:0.0:0.6824	.	96;96;96;96;96;96	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	E	96;96;96;96;74;96;96	ENSP00000368544:D96E;ENSP00000374625:D96E;ENSP00000393561:D96E;ENSP00000384154:D74E;ENSP00000368543:D96E;ENSP00000385658:D96E	ENSP00000368543:D96E	D	+	3	2	VIT	36835580	0.999000	0.42202	0.856000	0.33681	0.932000	0.56968	0.719000	0.25881	0.949000	0.37715	0.533000	0.62120	GAT	.	.		0.398	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
VIT	5212	hgsc.bcm.edu	37	2	37035640	37035640	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:37035640A>G	ENST00000389975.3	+	14	1672	c.1370A>G	c.(1369-1371)tAc>tGc	p.Y457C	VIT_ENST00000401530.1_Missense_Mutation_p.Y436C|VIT_ENST00000404084.1_Missense_Mutation_p.Y409C|VIT_ENST00000379241.3_Missense_Mutation_p.Y435C|VIT_ENST00000379242.3_Missense_Mutation_p.Y472C|VIT_ENST00000497382.1_Missense_Mutation_p.Y126C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	457	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AACGGCTTCTACTCGCTCCAC	0.612																																					p.Y472C		Atlas-SNP	.											.	VIT	138	.	0			c.A1415G						.						35.0	31.0	32.0					2																	37035640		2203	4300	6503	SO:0001583	missense	5212	exon15			GCTTCTACTCGCT	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1370A>G	chr2.hg19:g.37035640A>G	ENSP00000374625:p.Tyr457Cys	157.0	0.0		105.0	43.0	NM_053276	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	hg19	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120966	0.56613	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.56941	0.43;0.43;1.15;0.43;0.43;1.15	5.12	5.12	0.69794	von Willebrand factor, type A (2);	0.055007	0.64402	D	0.000001	T	0.62036	0.2395	L	0.43152	1.355	0.53005	D	0.999963	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.99;0.991	T	0.61983	-0.6950	10	0.45353	T	0.12	-17.7252	10.2202	0.43192	0.852:0.0:0.0:0.148	.	436;435;457;472	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	472;457;126;409;435;436	ENSP00000368544:Y472C;ENSP00000374625:Y457C;ENSP00000417874:Y126C;ENSP00000384154:Y409C;ENSP00000368543:Y435C;ENSP00000385658:Y436C	ENSP00000368543:Y435C	Y	+	2	0	VIT	36889144	1.000000	0.71417	0.954000	0.39281	0.584000	0.36387	4.629000	0.61290	1.929000	0.55896	0.454000	0.30748	TAC	.	.		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
SIX2	10736	hgsc.bcm.edu	37	2	45235999	45235999	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:45235999T>A	ENST00000303077.6	-	1	570	c.251A>T	c.(250-252)cAg>cTg	p.Q84L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	84					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCACAGCTGCTGCAGCTTGGC	0.657																																					p.Q84L		Atlas-SNP	.											.	SIX2	39	.	0			c.A251T						.						69.0	67.0	67.0					2																	45235999		2203	4300	6503	SO:0001583	missense	10736	exon1			AGCTGCTGCAGCT	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.251A>T	chr2.hg19:g.45235999T>A	ENSP00000304502:p.Gln84Leu	48.0	0.0		47.0	17.0	NM_016932	Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	hg19	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678746	0.88542	.	.	ENSG00000170577	ENST00000303077	D	0.91124	-2.79	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.986;0.992	D	0.97847	1.0272	10	0.87932	D	0	-21.621	13.6109	0.62078	0.0:0.0:0.0:1.0	.	84;84	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	L	84	ENSP00000304502:Q84L	ENSP00000304502:Q84L	Q	-	2	0	SIX2	45089503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.691000	0.51100	0.379000	0.24179	CAG	.	.		0.657	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2		
TMEM247	388946	hgsc.bcm.edu	37	2	46706740	46706740	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:46706740A>G	ENST00000434431.1	+	1	16	c.16A>G	c.(16-18)Agg>Ggg	p.R6G		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	6						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGCAGAGGACAGGGAGATGAT	0.567																																					p.R6G		Atlas-SNP	.											.	.	.	.	0			c.A16G						.						39.0	47.0	44.0					2																	46706740		692	1591	2283	SO:0001583	missense	388946	exon1			GAGGACAGGGAGA		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.16A>G	chr2.hg19:g.46706740A>G	ENSP00000388684:p.Arg6Gly	119.0	0.0		102.0	42.0	NM_001145051		Missense_Mutation	SNP	ENST00000434431.1	hg19	CCDS56117.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.199019	0.58126	.	.	ENSG00000187600	ENST00000434431	.	.	.	4.94	2.44	0.29823	.	0.000000	0.44902	D	0.000402	T	0.57770	0.2076	L	0.34521	1.04	.	.	.	D	0.76494	0.999	D	0.80764	0.994	T	0.66878	-0.5812	8	0.87932	D	0	-26.5728	9.297	0.37822	0.6476:0.3524:0.0:0.0	.	6	A6NEH6	YB028_HUMAN	G	6	.	ENSP00000388684:R6G	R	+	1	2	AC018682.6	46560244	0.997000	0.39634	0.983000	0.44433	0.855000	0.48748	1.107000	0.31110	0.407000	0.25591	-0.438000	0.05819	AGG	.	.		0.567	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
MCFD2	90411	hgsc.bcm.edu	37	2	47134956	47134956	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:47134956T>C	ENST00000409105.1	-	4	481	c.302A>G	c.(301-303)cAt>cGt	p.H101R	MCFD2_ENST00000409218.1_Missense_Mutation_p.H101R|MCFD2_ENST00000409147.1_Missense_Mutation_p.H49R|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000409913.1_Missense_Mutation_p.H49R|MCFD2_ENST00000444761.2_Missense_Mutation_p.H82R|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.H101R|MCFD2_ENST00000319466.4_Missense_Mutation_p.H101R|MCFD2_ENST00000409207.1_Missense_Mutation_p.H101R|MCFD2_ENST00000409800.1_Missense_Mutation_p.H49R	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	101	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	TACCTCCTTATGGACATGAGT	0.448																																					p.H101R		Atlas-SNP	.											.	MCFD2	13	.	0			c.A302G						.						117.0	101.0	107.0					2																	47134956		2203	4300	6503	SO:0001583	missense	90411	exon4			TCCTTATGGACAT	AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.302A>G	chr2.hg19:g.47134956T>C	ENSP00000386651:p.His101Arg	46.0	0.0		36.0	18.0	NM_001171506	A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	hg19	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501662	0.85176	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438;ENST00000434262	D;D;D;D;D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	5.26	5.26	0.73747	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.969;1.0	D;D	0.81914	0.917;0.995	D	0.95212	0.8326	10	0.36615	T	0.2	-7.4954	15.0092	0.71536	0.0:0.0:0.0:1.0	.	82;101	E9PD95;Q8NI22	.;MCFD2_HUMAN	R	82;101;49;101;49;101;101;49;101;101;68	ENSP00000394647:H82R;ENSP00000386651:H101R;ENSP00000386941:H49R;ENSP00000317271:H101R;ENSP00000387202:H49R;ENSP00000386386:H101R;ENSP00000386279:H101R;ENSP00000387082:H49R;ENSP00000386261:H101R;ENSP00000402717:H101R;ENSP00000387360:H68R	ENSP00000317271:H101R	H	-	2	0	MCFD2	46988460	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.466000	0.80914	2.208000	0.71279	0.533000	0.62120	CAT	.	.		0.448	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279	
FSHR	2492	hgsc.bcm.edu	37	2	49190265	49190265	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:49190265A>G	ENST00000406846.2	-	10	1814	c.1695T>C	c.(1693-1695)tcT>tcC	p.S565S	FSHR_ENST00000541117.1_Silent_p.S301S|FSHR_ENST00000304421.4_Silent_p.S539S|FSHR_ENST00000346173.3_Silent_p.S503S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	565					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGTGTCACTAGAGGAGGACA	0.532									Gonadal Dysgenesis, 46 XX																												p.S565S		Atlas-SNP	.											.	FSHR	164	.	0			c.T1695C						.						99.0	84.0	89.0					2																	49190265		2203	4300	6503	SO:0001819	synonymous_variant	2492	exon10	Familial Cancer Database		GTCACTAGAGGAG		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1695T>C	chr2.hg19:g.49190265A>G		85.0	0.0		76.0	36.0	NM_000145	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	hg19	CCDS1843.1																																																																																			.	.		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
NRXN1	9378	hgsc.bcm.edu	37	2	50463975	50463975	+	Silent	SNP	C	C	A	rs200816799		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:50463975C>A	ENST00000406316.2	-	18	4974	c.3498G>T	c.(3496-3498)gtG>gtT	p.V1166V	NRXN1_ENST00000406859.3_Silent_p.V1166V|NRXN1_ENST00000404971.1_Silent_p.V1206V|NRXN1_ENST00000401669.2_Silent_p.V1166V|NRXN1_ENST00000342183.5_Silent_p.V131V|NRXN1_ENST00000402717.3_Silent_p.V1158V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.V1158V|NRXN1_ENST00000401710.1_Silent_p.V184V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1166	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTCCACTCGCACCAATACGG	0.423																																					p.V1206V		Atlas-SNP	.											.	NRXN1	1118	.	0			c.G3618T						.						119.0	106.0	111.0					2																	50463975		2203	4300	6503	SO:0001819	synonymous_variant	9378	exon19			CACTCGCACCAAT	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3498G>T	chr2.hg19:g.50463975C>A		144.0	0.0		139.0	56.0	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	hg19	CCDS54360.1																																																																																			.	.		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
SPTBN1	6711	hgsc.bcm.edu	37	2	54874335	54874335	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:54874335C>A	ENST00000356805.4	+	24	5215	c.4934C>A	c.(4933-4935)gCa>gAa	p.A1645E	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A1632E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1645	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGGACTATGCAGAGACCGTG	0.557																																					p.A1645E		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C4934A						.						111.0	102.0	105.0					2																	54874335		2203	4300	6503	SO:0001583	missense	6711	exon24			ACTATGCAGAGAC		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4934C>A	chr2.hg19:g.54874335C>A	ENSP00000349259:p.Ala1645Glu	77.0	0.0		58.0	26.0	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113667	0.94339	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.44083	0.93;0.93	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.56769	1.78	0.58432	D	0.999999	B;B	0.27656	0.042;0.184	B;B	0.34180	0.084;0.177	T	0.34104	-0.9842	10	0.38643	T	0.18	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	1632;1645	Q01082-3;Q01082	.;SPTB2_HUMAN	E	1645;1632	ENSP00000349259:A1645E;ENSP00000334156:A1632E	ENSP00000334156:A1632E	A	+	2	0	SPTBN1	54727839	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	7.770000	0.85390	2.818000	0.97014	0.591000	0.81541	GCA	.	.		0.557	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
MTIF2	4528	hgsc.bcm.edu	37	2	55479663	55479663	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:55479663C>A	ENST00000263629.4	-	8	1106	c.791G>T	c.(790-792)gGa>gTa	p.G264V	MTIF2_ENST00000403721.1_Missense_Mutation_p.G264V|MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000394600.3_Missense_Mutation_p.G264V	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	264	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTTCATCACTCCATCATCTGC	0.438																																					p.G264V		Atlas-SNP	.											.	MTIF2	64	.	0			c.G791T						.						156.0	134.0	142.0					2																	55479663		2203	4300	6503	SO:0001583	missense	4528	exon8			ATCACTCCATCAT	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.791G>T	chr2.hg19:g.55479663C>A	ENSP00000263629:p.Gly264Val	143.0	0.0		171.0	85.0	NM_002453	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	hg19	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286507	0.95517	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.81163	-1.46;-1.46;-1.46	6.07	6.07	0.98685	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96819	0.9602	10	0.87932	D	0	-20.8143	20.6593	0.99626	0.0:1.0:0.0:0.0	.	264	P46199	IF2M_HUMAN	V	264	ENSP00000384481:G264V;ENSP00000263629:G264V;ENSP00000378099:G264V	ENSP00000263629:G264V	G	-	2	0	MTIF2	55333167	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.346000	0.79347	2.885000	0.99019	0.655000	0.94253	GGA	.	.		0.438	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
PNPT1	87178	hgsc.bcm.edu	37	2	55910944	55910944	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:55910944T>A	ENST00000447944.2	-	5	515	c.429A>T	c.(427-429)ccA>ccT	p.P143P		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	143					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTAGCCAGCTGGAAAGAGCG	0.338																																					p.P143P		Atlas-SNP	.											.	PNPT1	68	.	0			c.A429T						.						63.0	65.0	64.0					2																	55910944		2203	4300	6503	SO:0001819	synonymous_variant	87178	exon5			GCCAGCTGGAAAG	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.429A>T	chr2.hg19:g.55910944T>A		335.0	1.0		281.0	125.0	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	hg19	CCDS1856.1																																																																																			.	.		0.338	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
ANTXR1	84168	hgsc.bcm.edu	37	2	69304560	69304560	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:69304560T>C	ENST00000303714.4	+	8	904	c.582T>C	c.(580-582)agT>agC	p.S194S	ANTXR1_ENST00000409349.3_Silent_p.S194S|ANTXR1_ENST00000409829.3_Silent_p.S194S	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTGCGGACAGTAAGGATCATG	0.498									Familial Infantile Hemangioma																												p.S194S		Atlas-SNP	.											.	ANTXR1	128	.	0			c.T582C						.						206.0	180.0	189.0					2																	69304560		2203	4300	6503	SO:0001819	synonymous_variant	84168	exon8	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	GGACAGTAAGGAT	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.582T>C	chr2.hg19:g.69304560T>C		78.0	0.0		63.0	26.0	NM_032208	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	hg19	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469983	0.26423	.	.	ENSG00000169604	ENST00000482235	.	.	.	5.39	1.81	0.25067	.	.	.	.	.	T	0.54191	0.1843	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	4	.	.	.	-15.7484	6.5138	0.22236	0.0:0.3846:0.0:0.6154	.	.	.	.	A	26	.	.	V	+	2	0	ANTXR1	69158064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.584000	0.23864	0.883000	0.36040	0.533000	0.62120	GTA	.	.		0.498	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	
DYSF	8291	hgsc.bcm.edu	37	2	71780941	71780941	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:71780941C>T	ENST00000258104.3	+	21	2212	c.1935C>T	c.(1933-1935)tgC>tgT	p.C645C	DYSF_ENST00000409744.1_Silent_p.C632C|DYSF_ENST00000409582.3_Silent_p.C662C|DYSF_ENST00000409762.1_Silent_p.C662C|DYSF_ENST00000413539.2_Silent_p.C676C|DYSF_ENST00000410020.3_Silent_p.C663C|DYSF_ENST00000429174.2_Silent_p.C645C|DYSF_ENST00000409366.1_Silent_p.C646C|DYSF_ENST00000394120.2_Silent_p.C646C|DYSF_ENST00000409651.1_Silent_p.C677C|DYSF_ENST00000410041.1_Silent_p.C663C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	645					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCAGGGTGCCACTACTACT	0.602																																					p.C677C		Atlas-SNP	.											.	DYSF	536	.	0			c.C2031T						.						108.0	83.0	92.0					2																	71780941		2203	4300	6503	SO:0001819	synonymous_variant	8291	exon22			AGGGTGCCACTAC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1935C>T	chr2.hg19:g.71780941C>T		49.0	0.0		53.0	21.0	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	hg19	CCDS1918.1																																																																																			.	.		0.602	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
SEMA4F	10505	hgsc.bcm.edu	37	2	74907007	74907007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:74907007G>T	ENST00000357877.2	+	14	2133	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Nonsense_Mutation_p.G507*	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	662					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGTGGGGGCGGGACTGGCTGG	0.617																																					p.G662X		Atlas-SNP	.											.	SEMA4F	89	.	0			c.G1984T						.						37.0	44.0	42.0					2																	74907007		2203	4299	6502	SO:0001587	stop_gained	10505	exon14			GGGGCGGGACTGG	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1984G>T	chr2.hg19:g.74907007G>T	ENSP00000350547:p.Gly662*	70.0	0.0		57.0	22.0	NM_004263	Q542Y7|Q9NS35	Nonsense_Mutation	SNP	ENST00000357877.2	hg19	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399512	0.83120	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	.	.	.	5.38	5.38	0.77491	.	1.629780	0.04048	N	0.304234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.6234	0.68602	0.0:0.0:1.0:0.0	.	.	.	.	X	662;507	.	ENSP00000342675:G507X	G	+	1	0	SEMA4F	74760515	1.000000	0.71417	0.983000	0.44433	0.128000	0.20619	3.733000	0.55029	2.526000	0.85167	0.467000	0.42956	GGA	.	.		0.617	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
LRRTM1	347730	hgsc.bcm.edu	37	2	80529619	80529619	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:80529619C>A	ENST00000295057.3	-	2	1982	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.V442V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	442					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V442V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCACCAGGACCACGATGAGGA	0.602										HNSCC(69;0.2)																											p.V442V		Atlas-SNP	.											LRRTM1,NS,carcinoma,0,1	LRRTM1	251	.	1	Substitution - coding silent(1)	ovary(1)	c.G1326T						.						106.0	93.0	97.0					2																	80529619		2203	4300	6503	SO:0001819	synonymous_variant	347730	exon2			CAGGACCACGATG	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1326G>T	chr2.hg19:g.80529619C>A		37.0	0.0		27.0	10.0	NM_178839	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	hg19	CCDS1966.1																																																																																			.	.		0.602	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
DNAH6	1768	hgsc.bcm.edu	37	2	84954900	84954900	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:84954900A>G	ENST00000237449.6	+	60	10088	c.10080A>G	c.(10078-10080)agA>agG	p.R3360R	DNAH6_ENST00000389394.3_Silent_p.R3360R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3360					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGTTTCAAGAGGACTTTTTG	0.393																																					p.R3360R		Atlas-SNP	.											.	DNAH6	194	.	0			c.A10080G						.						180.0	150.0	159.0					2																	84954900		692	1591	2283	SO:0001819	synonymous_variant	1768	exon61			TTCAAGAGGACTT	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.10080A>G	chr2.hg19:g.84954900A>G		77.0	0.0		77.0	35.0	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	hg19	CCDS46348.1																																																																																			.	.		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
DNAH6	1768	hgsc.bcm.edu	37	2	85024758	85024758	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:85024758T>A	ENST00000237449.6	+	69	11465	c.11457T>A	c.(11455-11457)caT>caA	p.H3819Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.H3819Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3819					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTGGAATGCATGAAAATGCTA	0.378																																					p.H3819Q		Atlas-SNP	.											.	DNAH6	194	.	0			c.T11457A						.						195.0	168.0	176.0					2																	85024758		692	1591	2283	SO:0001583	missense	1768	exon70			AATGCATGAAAAT	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11457T>A	chr2.hg19:g.85024758T>A	ENSP00000237449:p.His3819Gln	65.0	0.0		57.0	33.0	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	hg19	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236138	0.79800	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.10192	2.9;2.9	5.63	4.47	0.54385	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55933	-0.8062	10	0.87932	D	0	.	9.7366	0.40392	0.0:0.0819:0.0:0.9181	.	3819;578	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	Q	3819	ENSP00000374045:H3819Q;ENSP00000237449:H3819Q	ENSP00000237449:H3819Q	H	+	3	2	DNAH6	84878269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.768000	0.62293	0.965000	0.38133	0.523000	0.50628	CAT	.	.		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
ASTL	431705	hgsc.bcm.edu	37	2	96795631	96795631	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:96795631G>A	ENST00000342380.2	-	8	805	c.806C>T	c.(805-807)gCc>gTc	p.A269V		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GATGTCCGAGGCACTCAGGTT	0.657																																					p.A269V		Atlas-SNP	.											.	ASTL	59	.	0			c.C806T						.						46.0	53.0	50.0					2																	96795631		2203	4300	6503	SO:0001583	missense	431705	exon8			TCCGAGGCACTCA	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.806C>T	chr2.hg19:g.96795631G>A	ENSP00000343674:p.Ala269Val	130.0	0.0		117.0	54.0	NM_001002036		Missense_Mutation	SNP	ENST00000342380.2	hg19	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139528	0.37728	.	.	ENSG00000188886	ENST00000342380	T	0.63744	-0.06	4.14	0.985	0.19779	Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.932364	0.08949	N	0.870358	T	0.46249	0.1383	L	0.33710	1.025	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.37009	-0.9724	10	0.31617	T	0.26	-2.213	2.4813	0.04587	0.1089:0.1879:0.5101:0.1931	.	269	Q6HA08	ASTL_HUMAN	V	269	ENSP00000343674:A269V	ENSP00000343674:A269V	A	-	2	0	ASTL	96159358	0.000000	0.05858	0.651000	0.29564	0.998000	0.95712	0.548000	0.23314	0.335000	0.23614	0.555000	0.69702	GCC	.	.		0.657	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
SNRNP200	23020	hgsc.bcm.edu	37	2	96966755	96966755	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:96966755T>C	ENST00000323853.5	-	5	688	c.611A>G	c.(610-612)cAg>cGg	p.Q204R	SNRNP200_ENST00000349783.5_Missense_Mutation_p.Q204R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	204					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGACTCAAACTGCACATTCAC	0.418																																					p.Q204R		Atlas-SNP	.											.	SNRNP200	195	.	0			c.A611G						.						244.0	193.0	210.0					2																	96966755		2203	4300	6503	SO:0001583	missense	23020	exon5			TCAAACTGCACAT	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.611A>G	chr2.hg19:g.96966755T>C	ENSP00000317123:p.Gln204Arg	119.0	0.0		132.0	53.0	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	hg19	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722177	0.30503	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.44482	0.92;0.92	5.24	5.24	0.73138	.	0.121774	0.56097	D	0.000023	T	0.42517	0.1206	M	0.69823	2.125	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.32241	-0.9914	10	0.18710	T	0.47	-18.8126	14.4064	0.67086	0.0:0.0:0.0:1.0	.	204	O75643	U520_HUMAN	R	204	ENSP00000317123:Q204R;ENSP00000326937:Q204R	ENSP00000317123:Q204R	Q	-	2	0	SNRNP200	96330482	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.309000	0.78937	2.107000	0.64212	0.459000	0.35465	CAG	.	.		0.418	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
Unknown	0	hgsc.bcm.edu	37	2	97315365	97315365	+	IGR	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:97315365T>C								KANSL3 (11250 upstream) : FER1L5 (20589 downstream)																							TGCAGTGTACTGTCACCCTAC	0.557																																					p.T115T		Atlas-SNP	.											.	FER1L5	113	.	0			c.T345C						.						204.0	172.0	182.0					2																	97315365		692	1591	2283	SO:0001628	intergenic_variant	90342	exon5			GTGTACTGTCACC																													chr2.hg19:g.97315365T>C		76.0	0.0		74.0	28.0	NM_001113382		Silent	SNP		hg19																																																																																				.	.	0	0.557								
VWA3B	200403	hgsc.bcm.edu	37	2	98866838	98866838	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:98866838C>G	ENST00000477737.1	+	20	2935	c.2731C>G	c.(2731-2733)Caa>Gaa	p.Q911E	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	911										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATTAACCCCCAAGGAGCCAA	0.418																																					p.Q911E		Atlas-SNP	.											.	VWA3B	138	.	0			c.C2731G						.						128.0	123.0	125.0					2																	98866838		1884	4112	5996	SO:0001583	missense	200403	exon20			AACCCCCAAGGAG	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2731C>G	chr2.hg19:g.98866838C>G	ENSP00000417955:p.Gln911Glu	127.0	0.0		82.0	40.0	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	hg19	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.954923|1.954923	0.34471|0.34471	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737;ENST00000358269	T|T	0.16597|0.06142	2.33|3.34	4.63|4.63	3.74|3.74	0.42951|0.42951	.|.	.|0.617187	.|0.14767	.|N	.|0.299644	T|T	0.08626|0.08626	0.0214|0.0214	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.42871	.|0.792;0.349;0.622	.|B;B;B	.|0.40066	.|0.318;0.155;0.295	T|T	0.13602|0.13602	-1.0503|-1.0503	7|10	0.87932|0.56958	D|D	0|0.05	.|.	10.1997|10.1997	0.43075|0.43075	0.1987:0.8013:0.0:0.0|0.1987:0.8013:0.0:0.0	.|.	.|303;911;911	.|Q502W6-5;Q502W6;Q502W6-8	.|.;VWA3B_HUMAN;.	R|E	321|911;33	ENSP00000436153:P321R|ENSP00000417955:Q911E	ENSP00000436153:P321R|ENSP00000351009:Q33E	P|Q	+|+	2|1	0|0	VWA3B|VWA3B	98233270|98233270	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.890000|0.890000	0.51754|0.51754	1.987000|1.987000	0.40687|0.40687	1.271000|1.271000	0.44313|0.44313	-0.188000|-0.188000	0.12872|0.12872	CCA|CAA	.	.		0.418	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
CNGA3	1261	hgsc.bcm.edu	37	2	98994248	98994248	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:98994248G>T	ENST00000272602.2	+	2	239	c.200G>T	c.(199-201)gGc>gTc	p.G67V	CNGA3_ENST00000393504.1_Missense_Mutation_p.G67V|CNGA3_ENST00000436404.2_Missense_Mutation_p.G67V|CNGA3_ENST00000409937.1_Missense_Mutation_p.G16V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	67					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCTTCACCGGCCAGGGGATC	0.602																																					p.G67V		Atlas-SNP	.											.	CNGA3	118	.	0			c.G200T						.						25.0	24.0	24.0					2																	98994248		2203	4300	6503	SO:0001583	missense	1261	exon3			TCACCGGCCAGGG	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.200G>T	chr2.hg19:g.98994248G>T	ENSP00000272602:p.Gly67Val	80.0	0.0		70.0	27.0	NM_001298	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	hg19	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521102	0.27211	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.99466	0.81;0.81;0.81;-5.95	5.01	1.11	0.20524	.	2.818950	0.00812	N	0.001507	D	0.97517	0.9187	L	0.39898	1.24	0.23689	N	0.997106	P;B;B	0.38250	0.624;0.013;0.007	B;B;B	0.31686	0.134;0.015;0.013	D	0.96574	0.9425	10	0.36615	T	0.2	.	3.3458	0.07134	0.145:0.1363:0.578:0.1407	.	16;67;67	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	V	67;67;67;16	ENSP00000377140:G67V;ENSP00000410070:G67V;ENSP00000272602:G67V;ENSP00000386761:G16V	ENSP00000272602:G67V	G	+	2	0	CNGA3	98360680	0.833000	0.29383	0.011000	0.14972	0.003000	0.03518	1.775000	0.38584	0.083000	0.17047	-0.794000	0.03295	GGC	.	.		0.602	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
INPP4A	3631	hgsc.bcm.edu	37	2	99182502	99182502	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:99182502A>G	ENST00000523221.1	+	20	2305	c.2305A>G	c.(2305-2307)Aac>Gac	p.N769D	INPP4A_ENST00000409016.4_Missense_Mutation_p.N730D|INPP4A_ENST00000409540.3_Missense_Mutation_p.N730D|INPP4A_ENST00000545415.1_Missense_Mutation_p.N730D|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000074304.5_Missense_Mutation_p.N769D|INPP4A_ENST00000409851.3_Missense_Mutation_p.N764D|INPP4A_ENST00000409463.1_Missense_Mutation_p.N98D			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	769					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGACGGGTTTAACGTGCGGGT	0.657																																					p.N769D		Atlas-SNP	.											.	INPP4A	205	.	0			c.A2305G						.						20.0	21.0	21.0					2																	99182502		1961	4136	6097	SO:0001583	missense	3631	exon22			GGGTTTAACGTGC	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2305A>G	chr2.hg19:g.99182502A>G	ENSP00000427722:p.Asn769Asp	72.0	0.0		64.0	29.0	NM_001134224	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	hg19	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412649	0.83340	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.41400	1.97;2.27;1.0;2.28;1.97;1.96;2.28	5.37	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	L	0.40543	1.245	0.58432	D	0.999995	D;D;B;D;D	0.76494	0.996;0.999;0.417;0.999;0.999	D;D;P;D;D	0.81914	0.979;0.994;0.503;0.995;0.995	T	0.37888	-0.9686	10	0.12430	T	0.62	-32.592	11.8359	0.52323	0.8534:0.1466:0.0:0.0	.	730;730;98;769;764	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	D	730;764;98;769;730;730;769	ENSP00000386704:N730D;ENSP00000386777:N764D;ENSP00000386329:N98D;ENSP00000074304:N769D;ENSP00000442149:N730D;ENSP00000387294:N730D;ENSP00000427722:N769D	ENSP00000074304:N769D	N	+	1	0	INPP4A	98548934	1.000000	0.71417	0.751000	0.31187	0.898000	0.52572	9.139000	0.94554	1.042000	0.40150	0.528000	0.53228	AAC	.	.		0.657	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
MRPL30	51263	hgsc.bcm.edu	37	2	99812077	99812077	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:99812077A>G	ENST00000338148.3	+	6	593	c.395A>G	c.(394-396)gAg>gGg	p.E132G	C2orf15_ENST00000512183.2_Missense_Mutation_p.E132G|MRPL30_ENST00000465432.1_3'UTR	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	132						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CCAGCAGAGGAGAACATGTCT	0.483																																					p.E132G		Atlas-SNP	.											.	MRPL30	20	.	0			c.A395G						.						165.0	153.0	157.0					2																	99812077		2203	4300	6503	SO:0001583	missense	51263	exon6			CAGAGGAGAACAT	AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"""Mitochondrial ribosomal proteins / large subunits"""	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.395A>G	chr2.hg19:g.99812077A>G	ENSP00000338057:p.Glu132Gly	142.0	0.0		127.0	59.0	NM_145212	A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	ENST00000338148.3	hg19	CCDS2041.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.140130	0.37825	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000338148;ENST00000409841	T;T;T	0.51071	0.72;0.72;0.72	4.26	3.07	0.35406	.	0.111404	0.64402	D	0.000015	T	0.44726	0.1307	M	0.70275	2.135	0.44652	D	0.99763	B	0.30511	0.282	B	0.28784	0.094	T	0.46219	-0.9207	10	0.72032	D	0.01	-18.34	9.2701	0.37666	0.8175:0.1825:0.0:0.0	.	132	Q8TCC3	RM30_HUMAN	G	132;145;132;132	ENSP00000420959:E132G;ENSP00000338057:E132G;ENSP00000386752:E132G	ENSP00000312464:E145G	E	+	2	0	C2orf15;MRPL30	99178509	1.000000	0.71417	0.994000	0.49952	0.563000	0.35712	4.151000	0.58105	0.769000	0.33313	-0.446000	0.05623	GAG	.	.		0.483	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253130.2		
NPAS2	4862	hgsc.bcm.edu	37	2	101587535	101587535	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:101587535A>T	ENST00000335681.5	+	12	1424	c.1139A>T	c.(1138-1140)aAg>aTg	p.K380M	AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.K445M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	380					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGCACTAAAGGTACGCCCA	0.527																																					p.K380M		Atlas-SNP	.											.	NPAS2	88	.	0			c.A1139T						.						74.0	70.0	72.0					2																	101587535		2203	4300	6503	SO:0001630	splice_region_variant	4862	exon12			CACTAAAGGTACG	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1140+1A>T	chr2.hg19:g.101587535A>T		96.0	0.0		91.0	35.0	NM_002518	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	hg19	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371904	0.82573	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.07444	3.22;3.19	5.71	5.71	0.89125	.	0.289989	0.39687	N	0.001293	T	0.30103	0.0754	M	0.74258	2.255	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.971	T	0.01795	-1.1272	10	0.72032	D	0.01	.	15.9736	0.80040	1.0:0.0:0.0:0.0	.	445;380	F5H027;Q99743	.;NPAS2_HUMAN	M	380;445	ENSP00000338283:K380M;ENSP00000438428:K445M	ENSP00000338283:K380M	K	+	2	0	NPAS2	100953967	1.000000	0.71417	0.994000	0.49952	0.666000	0.39218	7.339000	0.79282	2.165000	0.68154	0.533000	0.62120	AAG	.	.		0.527	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		Missense_Mutation
NPAS2	4862	hgsc.bcm.edu	37	2	101594175	101594175	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:101594175C>G	ENST00000335681.5	+	15	1681	c.1396C>G	c.(1396-1398)Cct>Gct	p.P466A	AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.P531A|AC016738.3_ENST00000433012.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	466					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCACAGGCCCCTCTGCCTTC	0.622																																					p.P466A		Atlas-SNP	.											.	NPAS2	88	.	0			c.C1396G						.						97.0	101.0	99.0					2																	101594175		2203	4300	6503	SO:0001583	missense	4862	exon15			CAGGCCCCTCTGC	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1396C>G	chr2.hg19:g.101594175C>G	ENSP00000338283:p.Pro466Ala	75.0	0.0		61.0	15.0	NM_002518	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	hg19	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	C	1.872	-0.460100	0.04508	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.28255	3.57;3.55;1.62	5.69	2.5	0.30297	.	0.798202	0.12029	N	0.506130	T	0.21103	0.0508	L	0.54323	1.7	0.25840	N	0.984064	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.002;0.0;0.005	T	0.39375	-0.9617	10	0.05959	T	0.93	.	3.1669	0.06539	0.0:0.4858:0.228:0.2862	.	531;466;466	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	A	466;531;65	ENSP00000338283:P466A;ENSP00000438428:P531A;ENSP00000392125:P65A	ENSP00000338283:P466A	P	+	1	0	NPAS2	100960607	0.969000	0.33509	0.113000	0.21522	0.026000	0.11368	2.024000	0.41049	0.735000	0.32537	0.655000	0.94253	CCT	.	.		0.622	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		
SH3RF3	344558	hgsc.bcm.edu	37	2	110053581	110053581	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:110053581G>T	ENST00000309415.6	+	7	1807	c.1807G>T	c.(1807-1809)Gcc>Tcc	p.A603S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	603							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGCCAGCCAAGCCCGGAGCAC	0.647																																					p.A603S		Atlas-SNP	.											.	SH3RF3	62	.	0			c.G1807T						.						19.0	28.0	25.0					2																	110053581		2061	4199	6260	SO:0001583	missense	344558	exon7			AGCCAAGCCCGGA	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1807G>T	chr2.hg19:g.110053581G>T	ENSP00000309186:p.Ala603Ser	189.0	0.0		155.0	56.0	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	hg19		.	.	.	.	.	.	.	.	.	.	G	12.39	1.922493	0.33908	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.59906	0.23;2.02	5.59	4.71	0.59529	.	0.443662	0.25258	N	0.031975	T	0.46229	0.1382	.	.	.	0.31126	N	0.708265	P	0.39847	0.691	B	0.42555	0.391	T	0.53995	-0.8359	9	0.39692	T	0.17	-21.3575	2.93	0.05796	0.1557:0.1416:0.5561:0.1467	.	603	Q8TEJ3	SH3R3_HUMAN	S	603	ENSP00000414997:A603S;ENSP00000309186:A603S	ENSP00000309186:A603S	A	+	1	0	SH3RF3	109420013	0.595000	0.26857	0.988000	0.46212	0.691000	0.40173	1.317000	0.33631	1.358000	0.45922	0.650000	0.86243	GCC	.	.		0.647	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
SH3RF3	344558	hgsc.bcm.edu	37	2	110259210	110259210	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:110259210A>G	ENST00000309415.6	+	10	2611	c.2611A>G	c.(2611-2613)Aca>Gca	p.T871A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	871	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GAACGGCCGCACAGGCCTCTT	0.642																																					p.T871A		Atlas-SNP	.											.	SH3RF3	62	.	0			c.A2611G						.						39.0	42.0	41.0					2																	110259210		2047	4179	6226	SO:0001583	missense	344558	exon10			GGCCGCACAGGCC	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2611A>G	chr2.hg19:g.110259210A>G	ENSP00000309186:p.Thr871Ala	46.0	0.0		32.0	12.0	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.27|17.27	3.348312|3.348312	0.61183|0.61183	.|.	.|.	ENSG00000172985|ENSG00000172985	ENST00000444352|ENST00000309415	.|T	.|0.51071	.|0.72	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Src homology-3 domain (4);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.61999|0.61999	0.2392|0.2392	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.55385	.|0.971	.|D	.|0.65874	.|0.939	T|T	0.60357|0.60357	-0.7279|-0.7279	4|9	.|0.32370	.|T	.|0.25	-25.4388|-25.4388	10.9562|10.9562	0.47358|0.47358	0.86:0.0:0.0:0.14|0.86:0.0:0.0:0.14	.|.	.|871	.|Q8TEJ3	.|SH3R3_HUMAN	R|A	44|871	.|ENSP00000309186:T871A	.|ENSP00000309186:T871A	H|T	+|+	2|1	0|0	SH3RF3|SH3RF3	109616492|109616492	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	7.141000|7.141000	0.77330|0.77330	2.031000|2.031000	0.59945|0.59945	0.379000|0.379000	0.24179|0.24179	CAC|ACA	.	.		0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
CKAP2L	150468	hgsc.bcm.edu	37	2	113518343	113518343	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:113518343T>A	ENST00000302450.6	-	3	183		c.e3-2		CKAP2L_ENST00000541405.1_Splice_Site|CKAP2L_ENST00000481732.1_Splice_Site	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGATAAGGCCTATAAAAGACA	0.269																																					.		Atlas-SNP	.											.	CKAP2L	54	.	0			c.105-2A>T						.						55.0	63.0	60.0					2																	113518343		2193	4271	6464	SO:0001630	splice_region_variant	150468	exon4			AAGGCCTATAAAA	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.105-2A>T	chr2.hg19:g.113518343T>A		335.0	1.0		269.0	114.0	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Splice_Site	SNP	ENST00000302450.6	hg19	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552404	0.65311	.	.	ENSG00000169607	ENST00000302450	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3159	0.49392	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP2L	113234814	0.997000	0.39634	0.969000	0.41365	0.982000	0.71751	3.792000	0.55476	2.096000	0.63516	0.533000	0.62120	.	.	.		0.269	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Intron
IL1B	3553	hgsc.bcm.edu	37	2	113593196	113593196	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:113593196T>C	ENST00000263341.2	-	3	258		c.e3-2		IL1B_ENST00000491056.1_Splice_Site	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta						activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	TCATTGCCACTGTAATAAAAA	0.403																																					.		Atlas-SNP	.											.	IL1B	35	.	0			c.48-2A>G						.						121.0	105.0	110.0					2																	113593196		2203	4300	6503	SO:0001630	splice_region_variant	3553	exon4			TGCCACTGTAATA	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.48-2A>G	chr2.hg19:g.113593196T>C		79.0	0.0		51.0	23.0	NM_000576	Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Splice_Site	SNP	ENST00000263341.2	hg19	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	T	6.606	0.480251	0.12581	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	.	.	.	4.64	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3138	0.32088	0.0:0.0:0.2009:0.7991	.	.	.	.	.	-1	.	.	.	-	.	.	IL1B	113309667	1.000000	0.71417	0.521000	0.27850	0.110000	0.19582	3.164000	0.50770	0.872000	0.35775	0.460000	0.39030	.	.	.		0.403	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576	Intron
EN1	2019	hgsc.bcm.edu	37	2	119600649	119600649	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:119600649C>A	ENST00000295206.6	-	2	1554	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	348					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GGAACCAGATCTTGATCTGGG	0.592																																					p.K348N		Atlas-SNP	.											.	EN1	33	.	0			c.G1044T						.						87.0	77.0	81.0					2																	119600649		2203	4300	6503	SO:0001583	missense	2019	exon2			CCAGATCTTGATC	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1044G>T	chr2.hg19:g.119600649C>A	ENSP00000295206:p.Lys348Asn	53.0	0.0		44.0	18.0	NM_001426	Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	hg19	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434177	0.62955	.	.	ENSG00000163064	ENST00000295206	D	0.96913	-4.17	4.89	2.7	0.31948	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	H	0.96518	3.835	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	D	0.98797	1.0738	10	0.87932	D	0	-15.2674	11.8319	0.52301	0.0:0.8251:0.0:0.1749	.	348	Q05925	HME1_HUMAN	N	348	ENSP00000295206:K348N	ENSP00000295206:K348N	K	-	3	2	EN1	119317119	0.978000	0.34361	1.000000	0.80357	0.998000	0.95712	0.236000	0.17967	1.044000	0.40200	0.555000	0.69702	AAG	.	.		0.592	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3		
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175023	125175023	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:125175023T>A	ENST00000431078.1	+	4	749	c.385T>A	c.(385-387)Ttt>Att	p.F129I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	129	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGCAGACCTTTGCAGGAAA	0.478																																					p.F129I		Atlas-SNP	.											.	CNTNAP5	405	.	0			c.T385A						.						74.0	73.0	73.0					2																	125175023		1997	4190	6187	SO:0001583	missense	129684	exon4			CAGACCTTTGCAG	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.385T>A	chr2.hg19:g.125175023T>A	ENSP00000399013:p.Phe129Ile	94.0	0.0		65.0	35.0	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387112	0.82902	.	.	ENSG00000155052	ENST00000431078	D	0.97941	-4.62	6.13	4.98	0.66077	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000107	D	0.98438	0.9480	M	0.81682	2.555	0.44268	D	0.997126	D	0.89917	1.0	D	0.87578	0.998	D	0.98415	1.0574	10	0.51188	T	0.08	.	11.3882	0.49798	0.0:0.0708:0.0:0.9292	.	129	Q8WYK1	CNTP5_HUMAN	I	129	ENSP00000399013:F129I	ENSP00000399013:F129I	F	+	1	0	CNTNAP5	124891493	0.996000	0.38824	0.786000	0.31890	0.974000	0.67602	2.689000	0.46993	1.149000	0.42402	0.529000	0.55759	TTT	.	.		0.478	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
MZT2B	80097	hgsc.bcm.edu	37	2	130939136	130939136	+	5'Flank	SNP	T	T	A	rs369506878		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:130939136T>A	ENST00000281871.6	+	0	0				SMPD4_ENST00000339679.7_5'UTR|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000351288.6_Silent_p.P13P|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000409031.1_Silent_p.P13P|MZT2B_ENST00000409255.1_5'Flank|SMPD4_ENST00000453750.1_Silent_p.P13P|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000443958.2_5'UTR|AC018804.1_ENST00000578074.1_RNA|SMPD4_ENST00000431183.2_Silent_p.P13P	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B							centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GCCTCAGAGATGGAAGCCGCC	0.706																																					p.P13P		Atlas-SNP	.											.	SMPD4	67	.	0			c.A39T						.						8.0	11.0	10.0					2																	130939136		1893	4074	5967	SO:0001631	upstream_gene_variant	55627	exon1			CAGAGATGGAAGC	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625		chr2.hg19:g.130939136T>A	Exception_encountered	82.0	0.0		63.0	32.0	NM_017751	Q96CG4	Silent	SNP	ENST00000281871.6	hg19	CCDS2157.1																																																																																			.	.		0.706	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029	
FAM168B	130074	hgsc.bcm.edu	37	2	131813019	131813019	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:131813019C>T	ENST00000409185.1	-	5	408	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	FAM168B_ENST00000389915.3_Missense_Mutation_p.G101S	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	101						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TAGTACGTGCCTTGCTGTGGG	0.597																																					p.G101S		Atlas-SNP	.											.	FAM168B	15	.	0			c.G301A						.						119.0	138.0	131.0					2																	131813019		2168	4262	6430	SO:0001583	missense	130074	exon5			ACGTGCCTTGCTG		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.301G>A	chr2.hg19:g.131813019C>T	ENSP00000387051:p.Gly101Ser	117.0	0.0		111.0	48.0	NM_001009993	Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	hg19	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065736	0.93898	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.55237	-0.8172	9	0.02654	T	1	-2.2236	16.9553	0.86257	0.0:1.0:0.0:0.0	.	101	A1KXE4	F168B_HUMAN	S	101	.	ENSP00000374565:G101S	G	-	1	0	FAM168B	131529489	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.314000	0.78988	2.666000	0.90696	0.561000	0.74099	GGC	.	.		0.597	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993	
LRP1B	53353	hgsc.bcm.edu	37	2	141528495	141528495	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:141528495A>T	ENST00000389484.3	-	34	6552	c.5581T>A	c.(5581-5583)Tgt>Agt	p.C1861S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1861	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCACTGTACACATACAAGTC	0.373										TSP Lung(27;0.18)																											p.C1861S	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.T5581A						.						169.0	155.0	160.0					2																	141528495		2203	4300	6503	SO:0001583	missense	53353	exon34			CTGTACACATACA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5581T>A	chr2.hg19:g.141528495A>T	ENSP00000374135:p.Cys1861Ser	96.0	0.0		66.0	18.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117056	0.77323	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99966	-10.09	5.7	5.7	0.88788	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	H	0.98701	4.305	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98623	1.0668	10	0.87932	D	0	.	15.9467	0.79799	1.0:0.0:0.0:0.0	.	1861	Q9NZR2	LRP1B_HUMAN	S	1861;1799	ENSP00000374135:C1861S	ENSP00000374135:C1861S	C	-	1	0	LRP1B	141244965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.717000	0.91425	2.163000	0.67991	0.477000	0.44152	TGT	.	.		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KIF5C	3800	hgsc.bcm.edu	37	2	149633250	149633250	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:149633250G>A	ENST00000435030.1	+	1	432	c.64G>A	c.(64-66)Gag>Aag	p.E22K	AC105402.4_ENST00000601658.1_RNA|AC105402.4_ENST00000446781.2_RNA			O60282	KIF5C_HUMAN	kinesin family member 5C	22	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACGAAGCGGAGATCCTCCG	0.632																																					p.E22K		Atlas-SNP	.											.	KIF5C	166	.	0			c.G64A						.						26.0	31.0	29.0					2																	149633250		1887	4104	5991	SO:0001583	missense	3800	exon1			GAAGCGGAGATCC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.64G>A	chr2.hg19:g.149633250G>A	ENSP00000393379:p.Glu22Lys	221.0	1.0		208.0	98.0	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	hg19		.	.	.	.	.	.	.	.	.	.	g	36	5.817252	0.96982	.	.	ENSG00000168280	ENST00000451033;ENST00000435030	T	0.76839	-1.05	4.69	4.69	0.59074	Kinesin, motor domain (3);	.	.	.	.	D	0.88455	0.6441	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90201	0.4257	8	0.87932	D	0	.	17.4709	0.87646	0.0:0.0:1.0:0.0	.	22	O60282	KIF5C_HUMAN	K	22	ENSP00000393379:E22K	ENSP00000393379:E22K	E	+	1	0	KIF5C	149349720	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.147000	0.94646	2.460000	0.83146	0.444000	0.29173	GAG	.	.		0.632	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
NEB	4703	hgsc.bcm.edu	37	2	152466569	152466569	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:152466569A>G	ENST00000172853.10	-	77	11502	c.11355T>C	c.(11353-11355)gaT>gaC	p.D3785D	NEB_ENST00000427231.2_Silent_p.D4028D|NEB_ENST00000409198.1_Silent_p.D3785D|NEB_ENST00000603639.1_Silent_p.D4028D|NEB_ENST00000397345.3_Silent_p.D4028D|NEB_ENST00000604864.1_Silent_p.D4028D			P20929	NEBU_HUMAN	nebulin	3785					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTGGGATCATCTTCAATGC	0.423																																					p.D4028D		Atlas-SNP	.											.	NEB	1697	.	0			c.T12084C						.						151.0	140.0	143.0					2																	152466569		1909	4134	6043	SO:0001819	synonymous_variant	4703	exon81			GGGATCATCTTCA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11355T>C	chr2.hg19:g.152466569A>G		78.0	0.0		64.0	26.0	NM_001271208	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	hg19																																																																																				.	.		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
SLC4A10	57282	hgsc.bcm.edu	37	2	162813739	162813739	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:162813739A>T	ENST00000446997.1	+	20	2875	c.2782A>T	c.(2782-2784)Agt>Tgt	p.S928C	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S898C|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S909C|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S928C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S898C	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	928					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTTTATGACCAGTATTCTGAA	0.353																																					p.S928C		Atlas-SNP	.											.	SLC4A10	309	.	0			c.A2782T						.						61.0	60.0	60.0					2																	162813739		1868	4114	5982	SO:0001583	missense	57282	exon20			ATGACCAGTATTC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2782A>T	chr2.hg19:g.162813739A>T	ENSP00000393066:p.Ser928Cys	101.0	0.0		82.0	29.0	NM_001178015	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528330	0.64860	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.093713	0.85682	D	0.000000	D	0.89068	0.6610	M	0.82056	2.57	0.53688	D	0.999977	P;P;D	0.65815	0.887;0.887;0.995	P;P;D	0.63283	0.823;0.823;0.913	D	0.90678	0.4603	10	0.87932	D	0	.	15.7565	0.78030	1.0:0.0:0.0:0.0	.	909;898;928	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	C	909;898;898;897;928;928;927	ENSP00000364664:S909C;ENSP00000395797:S898C;ENSP00000272716:S898C;ENSP00000393066:S928C;ENSP00000404486:S928C	ENSP00000272716:S898C	S	+	1	0	SLC4A10	162521985	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.790000	0.69038	2.177000	0.69029	0.533000	0.62120	AGT	.	.		0.353	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
DPP4	1803	hgsc.bcm.edu	37	2	162851476	162851476	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:162851476C>A	ENST00000360534.3	-	25	2754	c.2194G>T	c.(2194-2196)Gca>Tca	p.A732S	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	732					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TATACCATTGCCTGGAAATCC	0.473																																					p.A732S		Atlas-SNP	.											.	DPP4	90	.	0			c.G2194T						.						82.0	76.0	78.0					2																	162851476		2203	4300	6503	SO:0001583	missense	1803	exon25			CCATTGCCTGGAA	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2194G>T	chr2.hg19:g.162851476C>A	ENSP00000353731:p.Ala732Ser	203.0	0.0		183.0	89.0	NM_001935	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	hg19	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251775	0.39797	.	.	ENSG00000197635	ENST00000360534	T	0.30448	1.53	5.66	3.85	0.44370	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.101945	0.64402	N	0.000002	T	0.25195	0.0612	L	0.39692	1.235	0.52501	D	0.999951	B	0.09022	0.002	B	0.29440	0.102	T	0.05517	-1.0880	10	0.36615	T	0.2	-32.2704	6.936	0.24466	0.1493:0.7089:0.0:0.1419	.	732	P27487	DPP4_HUMAN	S	732	ENSP00000353731:A732S	ENSP00000353731:A732S	A	-	1	0	DPP4	162559722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.608000	0.54109	0.719000	0.32188	0.655000	0.94253	GCA	.	.		0.473	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
SCN7A	6332	hgsc.bcm.edu	37	2	167298134	167298134	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:167298134T>C	ENST00000409855.1	-	14	2055	c.1929A>G	c.(1927-1929)gcA>gcG	p.A643A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	643					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCATGCCGAATGCAGCAGAAA	0.438																																					p.A643A		Atlas-SNP	.											.	SCN7A	410	.	0			c.A1929G						.						114.0	119.0	117.0					2																	167298134		2203	4300	6503	SO:0001819	synonymous_variant	6332	exon14			GCCGAATGCAGCA	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1929A>G	chr2.hg19:g.167298134T>C		231.0	1.0		176.0	80.0	NM_002976		Silent	SNP	ENST00000409855.1	hg19	CCDS46442.1																																																																																			.	.		0.438	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
LRP2	4036	hgsc.bcm.edu	37	2	170063518	170063518	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:170063518C>T	ENST00000263816.3	-	39	6997	c.6712G>A	c.(6712-6714)Ggc>Agc	p.G2238S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2238					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTGCCAAGCCCCGTGGTGTG	0.463																																					p.G2238S		Atlas-SNP	.											.	LRP2	751	.	0			c.G6712A						.						171.0	160.0	163.0					2																	170063518		2203	4300	6503	SO:0001583	missense	4036	exon39			CCAAGCCCCGTGG		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6712G>A	chr2.hg19:g.170063518C>T	ENSP00000263816:p.Gly2238Ser	152.0	0.0		150.0	65.0	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751932	0.89753	.	.	ENSG00000081479	ENST00000263816	D	0.97529	-4.42	5.98	5.98	0.97165	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98400	1.0567	10	0.54805	T	0.06	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	2238	P98164	LRP2_HUMAN	S	2238	ENSP00000263816:G2238S	ENSP00000263816:G2238S	G	-	1	0	LRP2	169771764	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.089000	0.71384	2.835000	0.97688	0.650000	0.86243	GGC	.	.		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	hgsc.bcm.edu	37	2	170097673	170097673	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:170097673A>G	ENST00000263816.3	-	25	4155	c.3870T>C	c.(3868-3870)tgT>tgC	p.C1290C	LRP2_ENST00000443831.1_Silent_p.C1153C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1290	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGTCCCGATCACAGAGCCATG	0.512																																					p.C1290C		Atlas-SNP	.											.	LRP2	751	.	0			c.T3870C						.						188.0	145.0	160.0					2																	170097673		2203	4300	6503	SO:0001819	synonymous_variant	4036	exon25			CCGATCACAGAGC		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3870T>C	chr2.hg19:g.170097673A>G		94.0	0.0		99.0	48.0	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																			.	.		0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
BBS5	129880	hgsc.bcm.edu	37	2	170354147	170354147	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:170354147A>G	ENST00000295240.3	+	8	1005	c.629A>G	c.(628-630)aAg>aGg	p.K210R	BBS5_ENST00000392663.2_Intron|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.K210R|BBS5_ENST00000554017.1_Missense_Mutation_p.K210R	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	210					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGTTCAATAAAGATTAGAGAT	0.264									Bardet-Biedl syndrome																												p.K210R		Atlas-SNP	.											.	BBS5	27	.	0			c.A629G						.						77.0	87.0	83.0					2																	170354147		2201	4290	6491	SO:0001583	missense	129880	exon8	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	CAATAAAGATTAG	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.629A>G	chr2.hg19:g.170354147A>G	ENSP00000295240:p.Lys210Arg	304.0	0.0		262.0	13.0	NM_152384	D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	hg19	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	A	7.625	0.677621	0.14841	.	.	ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000513963	T;T;T	0.72835	-0.69;-0.69;-0.69	5.67	5.67	0.87782	.	0.043156	0.85682	D	0.000000	T	0.44030	0.1274	N	0.02539	-0.55	0.51767	D	0.999938	B;B	0.26041	0.14;0.002	B;B	0.27380	0.079;0.017	T	0.51655	-0.8678	10	0.02654	T	1	-10.8812	15.9272	0.79628	1.0:0.0:0.0:0.0	.	210;210	E9PBE3;Q8N3I7	.;BBS5_HUMAN	R	210	ENSP00000295240:K210R;ENSP00000452313:K210R;ENSP00000424363:K210R	ENSP00000295240:K210R	K	+	2	0	BBS5;RP11-724O16.1	170062393	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.520000	0.73773	2.153000	0.67306	0.533000	0.62120	AAG	.	.		0.264	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384	
PHOSPHO2	493911	hgsc.bcm.edu	37	2	170557709	170557709	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:170557709A>T	ENST00000359744.3	+	4	616	c.228A>T	c.(226-228)ccA>ccT	p.P76P	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	76							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTTTCACTCCAGGGATGGTGG	0.353																																					p.P76P		Atlas-SNP	.											.	PHOSPHO2	27	.	0			c.A228T						.						96.0	97.0	97.0					2																	170557709		2203	4300	6503	SO:0001819	synonymous_variant	493911	exon4			CACTCCAGGGATG	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.228A>T	chr2.hg19:g.170557709A>T		118.0	0.0		103.0	51.0	NM_001199286	B2RC30|D3DPC7	Silent	SNP	ENST00000359744.3	hg19	CCDS33319.1																																																																																			.	.		0.353	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489	
UBR3	130507	hgsc.bcm.edu	37	2	170806488	170806488	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:170806488T>C	ENST00000272793.5	+	23	3508	c.3458T>C	c.(3457-3459)aTt>aCt	p.I1153T	UBR3_ENST00000418381.1_Missense_Mutation_p.I1153T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1153					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAACGCATCATTGAAGAGATA	0.368																																					p.I1153T		Atlas-SNP	.											.	UBR3	182	.	0			c.T3458C						.						75.0	77.0	76.0					2																	170806488		2203	4300	6503	SO:0001583	missense	130507	exon23			GCATCATTGAAGA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3458T>C	chr2.hg19:g.170806488T>C	ENSP00000272793:p.Ile1153Thr	163.0	0.0		134.0	58.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.	.	.	.	.	.	.	.	.	.	T	18.86	3.712425	0.68730	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.59772	0.24;0.24	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	L	0.47190	1.495	0.80722	D	1	B;B	0.24258	0.1;0.079	B;B	0.26770	0.073;0.051	T	0.50406	-0.8832	10	0.40728	T	0.16	.	16.0044	0.80349	0.0:0.0:0.0:1.0	.	1153;1153	Q6ZT12;E7EVK3	UBR3_HUMAN;.	T	1153	ENSP00000272793:I1153T;ENSP00000396068:I1153T	ENSP00000272793:I1153T	I	+	2	0	UBR3	170514734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.841000	0.86834	2.191000	0.70037	0.528000	0.53228	ATT	.	.		0.368	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
MYO3B	140469	hgsc.bcm.edu	37	2	171243724	171243724	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:171243724T>C	ENST00000408978.4	+	14	1626	c.1483T>C	c.(1483-1485)Tat>Cat	p.Y495H	MYO3B_ENST00000334231.6_Missense_Mutation_p.Y504H|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Y495H	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	495	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTTTGGAAAATATCTGGAAAT	0.438																																					p.Y495H		Atlas-SNP	.											.	MYO3B	320	.	0			c.T1483C						.						89.0	87.0	88.0					2																	171243724		1872	4120	5992	SO:0001583	missense	140469	exon14			GGAAAATATCTGG		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1483T>C	chr2.hg19:g.171243724T>C	ENSP00000386213:p.Tyr495His	102.0	0.0		99.0	52.0	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	hg19	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627896	0.87560	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.63	5.63	0.86233	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96210	0.8764	H	0.95611	3.695	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.97355	0.9966	10	0.72032	D	0.01	.	15.8361	0.78799	0.0:0.0:0.0:1.0	.	495;495;495	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	H	495;495;494;504;504	ENSP00000386497:Y495H;ENSP00000386213:Y495H;ENSP00000446237:Y504H;ENSP00000335100:Y504H	ENSP00000314213:Y494H	Y	+	1	0	MYO3B	170951970	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.010000	0.88615	2.145000	0.66743	0.379000	0.24179	TAT	.	.		0.438	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	hgsc.bcm.edu	37	2	171260905	171260905	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:171260905T>A	ENST00000408978.4	+	20	2569	c.2426T>A	c.(2425-2427)cTg>cAg	p.L809Q	MYO3B_ENST00000334231.6_Missense_Mutation_p.L818Q|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L809Q	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	809	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACCAGACCCTGGTTGGTAGG	0.443																																					p.L809Q		Atlas-SNP	.											.	MYO3B	320	.	0			c.T2426A						.						62.0	61.0	61.0					2																	171260905		1891	4122	6013	SO:0001583	missense	140469	exon20			AGACCCTGGTTGG		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2426T>A	chr2.hg19:g.171260905T>A	ENSP00000386213:p.Leu809Gln	120.0	0.0		100.0	46.0	NM_001083615	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	hg19	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626846	0.87560	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.57	5.57	0.84162	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	H	0.97131	3.945	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.97878	1.0290	10	0.87932	D	0	.	16.0347	0.80617	0.0:0.0:0.0:1.0	.	809;809;809	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Q	809;809;808;818;818	ENSP00000386497:L809Q;ENSP00000386213:L809Q;ENSP00000446237:L818Q;ENSP00000335100:L818Q	ENSP00000314213:L808Q	L	+	2	0	MYO3B	170969151	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	7.798000	0.85924	2.248000	0.74166	0.533000	0.62120	CTG	.	.		0.443	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
HNRNPA3	220988	hgsc.bcm.edu	37	2	178081594	178081594	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:178081594A>G	ENST00000392524.2	+	7	983	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Y249C|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.Y227C			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	249	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TCAGGAGGCTAtggtggtgga	0.398																																					p.Y249C		Atlas-SNP	.											.	HNRNPA3	42	.	0			c.A746G						.						79.0	78.0	78.0					2																	178081594		2203	4300	6503	SO:0001583	missense	220988	exon7			GAGGCTATGGTGG	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.746A>G	chr2.hg19:g.178081594A>G	ENSP00000376309:p.Tyr249Cys	43.0	0.0		45.0	20.0	NM_194247	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	hg19	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	a	11.90	1.777026	0.31411	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000435711	D;D;D	0.86865	-2.18;-2.18;-2.18	4.27	3.1	0.35709	.	0.000000	0.39083	U	0.001463	T	0.81645	0.4866	M	0.67569	2.06	0.39808	D	0.972661	P;P	0.41643	0.758;0.758	B;B	0.33846	0.171;0.171	T	0.78425	-0.2209	10	0.42905	T	0.14	.	8.2631	0.31797	0.7659:0.0:0.2341:0.0	.	227;249	B4DDB6;P51991	.;ROA3_HUMAN	C	249;227;249	ENSP00000376309:Y249C;ENSP00000408487:Y227C;ENSP00000416340:Y249C	ENSP00000376309:Y249C	Y	+	2	0	HNRNPA3	177789840	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.454000	0.52986	0.626000	0.30322	0.446000	0.29264	TAT	.	.		0.398	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
TTN	7273	hgsc.bcm.edu	37	2	179398439	179398439	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179398439A>T	ENST00000591111.1	-	308	98204	c.97980T>A	c.(97978-97980)ggT>ggA	p.G32660G	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.G25236G|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Silent_p.G34301G|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Silent_p.G25361G|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.G25428G|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.G31733G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585625.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32660	Ig-like 144.				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)			TGTCATTGTCACCTGGTTTGA	0.403																																					p.G34301G		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,0,5	TTN	18412	.	0			c.T102903A						.						146.0	131.0	136.0					2																	179398439		1924	4141	6065	SO:0001819	synonymous_variant	7273	exon358			ATTGTCACCTGGT	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.97980T>A	chr2.hg19:g.179398439A>T		76.0	0.0		64.0	33.0	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	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179401059	179401059	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179401059A>T	ENST00000591111.1	-	307	95716	c.95492T>A	c.(95491-95493)cTa>cAa	p.L31831Q	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24407Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33472Q|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24532Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24599Q|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30904Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31831	Fibronectin type-III 131. {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)			TTCCCCACCTAGATTTTCACA	0.388																																					p.L33472Q		Atlas-SNP	.											.	TTN	18412	.	0			c.T100415A						.						80.0	75.0	76.0					2																	179401059		1851	4097	5948	SO:0001583	missense	7273	exon357			CCACCTAGATTTT	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.95492T>A	chr2.hg19:g.179401059A>T	ENSP00000465570:p.Leu31831Gln	97.0	0.0		71.0	45.0	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		.	.	.	.	.	.	.	.	.	.	A	17.94	3.510884	0.64522	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61800	0.2376	N	0.25332	0.735	0.52099	D	0.999948	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.981;0.981;0.981;0.989	T	0.66296	-0.5959	9	0.87932	D	0	.	16.0677	0.80897	1.0:0.0:0.0:0.0	.	24407;24532;24599;31831	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	30904;24407;24599;24532;24404	ENSP00000343764:L30904Q;ENSP00000434586:L24407Q;ENSP00000340554:L24599Q;ENSP00000352154:L24532Q	ENSP00000340554:L24599Q	L	-	2	0	TTN	179109305	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.339000	0.96797	2.185000	0.69588	0.460000	0.39030	CTA	.	.		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179477140	179477140	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179477140A>T	ENST00000591111.1	-	216	45413	c.45189T>A	c.(45187-45189)acT>acA	p.T15063T	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.T7639T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T16704T|TTN_ENST00000359218.5_Silent_p.T7764T|TTN_ENST00000342175.6_Silent_p.T7831T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.T14136T|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15063	Fibronectin type-III 9. {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)			TGTCCTTGACAGTGGTATCCA	0.498																																					p.T16704T		Atlas-SNP	.											.	TTN	18412	.	0			c.T50112A						.						105.0	96.0	99.0					2																	179477140		1969	4143	6112	SO:0001819	synonymous_variant	7273	exon266			CTTGACAGTGGTA	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.45189T>A	chr2.hg19:g.179477140A>T		84.0	0.0		69.0	37.0	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	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179482943	179482943	+	Missense_Mutation	SNP	T	T	A	rs368988689		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179482943T>A	ENST00000591111.1	-	202	42543	c.42319A>T	c.(42319-42321)Aat>Tat	p.N14107Y	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N6683Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N15748Y|TTN_ENST00000359218.5_Missense_Mutation_p.N6808Y|TTN_ENST00000342175.6_Missense_Mutation_p.N6875Y|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N13180Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14107	Fibronectin type-III 1. {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)			TCTACAGGATTGTCAGTTTCT	0.403																																					p.N15748Y		Atlas-SNP	.											.	TTN	18412	.	0			c.A47242T						.						167.0	164.0	165.0					2																	179482943		1903	4122	6025	SO:0001583	missense	7273	exon252			CAGGATTGTCAGT	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.42319A>T	chr2.hg19:g.179482943T>A	ENSP00000465570:p.Asn14107Tyr	87.0	0.0		81.0	37.0	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		.	.	.	.	.	.	.	.	.	.	T	11.44	1.638370	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64260	-0.09;0.16;0.14;0.13	5.6	5.6	0.85130	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60534	0.2276	L	0.54965	1.715	0.31660	N	0.645719	B;B;B;B	0.26876	0.162;0.162;0.162;0.162	B;B;B;B	0.24541	0.054;0.054;0.054;0.054	T	0.67252	-0.5717	9	0.87932	D	0	.	16.0832	0.81020	0.0:0.0:0.0:1.0	.	6683;6808;6875;14107	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	13180;6683;6875;6808;6683	ENSP00000343764:N13180Y;ENSP00000434586:N6683Y;ENSP00000340554:N6875Y;ENSP00000352154:N6808Y	ENSP00000340554:N6875Y	N	-	1	0	TTN	179191188	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.358000	0.52284	2.257000	0.74773	0.528000	0.53228	AAT	.	.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179584711	179584711	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179584711T>A	ENST00000591111.1	-	79	22931	c.22707A>T	c.(22705-22707)ctA>ctT	p.L7569L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.L7886L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site_p.L6642L			Q8WZ42	TITIN_HUMAN	titin	13126					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)			GCTACTAACCTAGTACAGTCA	0.388																																					p.L7886L		Atlas-SNP	.											.	TTN	18412	.	0			c.A23658T						.						51.0	45.0	47.0					2																	179584711		1842	4097	5939	SO:0001630	splice_region_variant	7273	exon81			CTAACCTAGTACA	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.22708+1A>T	chr2.hg19:g.179584711T>A		87.0	0.0		65.0	25.0	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	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Silent
TTN	7273	hgsc.bcm.edu	37	2	179590678	179590678	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179590678C>T	ENST00000591111.1	-	68	19644	c.19420G>A	c.(19420-19422)Gag>Aag	p.E6474K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E6791K|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E5547K			Q8WZ42	TITIN_HUMAN	titin	12075	Ig-like 46.				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)			CATACCACCTCAAACGGTGGT	0.428																																					p.E6791K		Atlas-SNP	.											.	TTN	18412	.	0			c.G20371A						.						94.0	89.0	91.0					2																	179590678		1898	4132	6030	SO:0001583	missense	7273	exon70			CCACCTCAAACGG	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.19420G>A	chr2.hg19:g.179590678C>T	ENSP00000465570:p.Glu6474Lys	167.0	0.0		125.0	56.0	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	13.75	2.329418	0.41197	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.87	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61912	0.2385	L	0.45285	1.41	0.80722	D	1	B	0.21071	0.051	B	0.15052	0.012	T	0.60919	-0.7167	9	0.87932	D	0	.	17.4718	0.87648	0.0:0.8758:0.1242:0.0	.	6474	Q8WZ42	TITIN_HUMAN	K	5547	ENSP00000343764:E5547K	ENSP00000343764:E5547K	E	-	1	0	TTN	179298923	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.016000	0.40971	1.611000	0.50210	0.655000	0.94253	GAG	.	.		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179594257	179594257	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179594257T>A	ENST00000591111.1	-	62	17899	c.17675A>T	c.(17674-17676)gAg>gTg	p.E5892V	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E6209V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4965V			Q8WZ42	TITIN_HUMAN	titin	12688	Ig-like 40.				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)			TTTTACTACCTCCACAGGCTT	0.468																																					p.E6209V		Atlas-SNP	.											.	TTN	18412	.	0			c.A18626T						.						95.0	89.0	91.0					2																	179594257		1854	4103	5957	SO:0001583	missense	7273	exon64			ACTACCTCCACAG	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.17675A>T	chr2.hg19:g.179594257T>A	ENSP00000465570:p.Glu5892Val	57.0	0.0		69.0	30.0	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		.	.	.	.	.	.	.	.	.	.	T	14.55	2.570350	0.45798	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75539	0.3863	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.78076	-0.2345	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	5892	Q8WZ42	TITIN_HUMAN	V	4965	ENSP00000343764:E4965V	ENSP00000343764:E4965V	E	-	2	0	TTN	179302502	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.698000	0.84413	2.255000	0.74692	0.533000	0.62120	GAG	.	.		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179644181	179644181	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:179644181A>T	ENST00000591111.1	-	23	3962	c.3738T>A	c.(3736-3738)caT>caA	p.H1246Q	TTN_ENST00000460472.2_Missense_Mutation_p.H1200Q|TTN_ENST00000360870.5_Missense_Mutation_p.H1246Q|TTN_ENST00000589042.1_Missense_Mutation_p.H1246Q|TTN_ENST00000359218.5_Missense_Mutation_p.H1200Q|TTN_ENST00000342175.6_Missense_Mutation_p.H1200Q|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H1246Q			Q8WZ42	TITIN_HUMAN	titin	33451					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)			AGGAAGAAATATGGAATTCCT	0.284																																					p.H1246Q		Atlas-SNP	.											.	TTN	18412	.	0			c.T3738A						.						17.0	18.0	17.0					2																	179644181		2157	4252	6409	SO:0001583	missense	7273	exon23			AGAAATATGGAAT	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.3738T>A	chr2.hg19:g.179644181A>T	ENSP00000465570:p.His1246Gln	133.0	0.0		96.0	39.0	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		.	.	.	.	.	.	.	.	.	.	A	11.93	1.785685	0.31593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61742	0.08;0.32;0.31;0.3;0.45	5.87	-2.56	0.06268	Ribonuclease H-like (1);	.	.	.	.	T	0.35307	0.0927	N	0.12746	0.255	0.21915	N	0.999477	B;B;B;B;B	0.33637	0.005;0.005;0.005;0.005;0.42	B;B;B;B;B	0.30782	0.005;0.005;0.005;0.005;0.12	T	0.19451	-1.0305	9	0.87932	D	0	.	10.4237	0.44365	0.4349:0.1017:0.4634:0.0	.	1200;1200;1200;1246;1246	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	1246;1200;1200;1200;1200;1246	ENSP00000343764:H1246Q;ENSP00000434586:H1200Q;ENSP00000340554:H1200Q;ENSP00000352154:H1200Q;ENSP00000354117:H1246Q	ENSP00000340554:H1200Q	H	-	3	2	TTN	179352426	0.015000	0.18098	0.973000	0.42090	0.994000	0.84299	-0.742000	0.04850	-0.694000	0.05113	0.533000	0.62120	CAT	.	.		0.284	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF385B	151126	hgsc.bcm.edu	37	2	180311266	180311266	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:180311266T>A	ENST00000410066.1	-	7	1505	c.902A>T	c.(901-903)gAg>gTg	p.E301V	ZNF385B_ENST00000409692.1_Missense_Mutation_p.E199V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.E199V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E225V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	301	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTGTGTGCCTCTAGCTGTGA	0.378																																					p.E301V	Colon(155;204 2491 32774 51842)	Atlas-SNP	.											.	ZNF385B	68	.	0			c.A902T						.						100.0	99.0	99.0					2																	180311266		2203	4300	6503	SO:0001583	missense	151126	exon7			TGTGCCTCTAGCT	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.902A>T	chr2.hg19:g.180311266T>A	ENSP00000386845:p.Glu301Val	81.0	0.0		67.0	23.0	NM_152520	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	hg19	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.814043	0.90790	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;1.79	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.047874	0.85682	D	0.000000	T	0.60340	0.2261	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.62089	0.898;0.892	T	0.63629	-0.6594	10	0.87932	D	0	0.6478	16.2127	0.82178	0.0:0.0:0.0:1.0	.	301;225	Q569K4;Q569K4-2	Z385B_HUMAN;.	V	301;199;225;199;199	ENSP00000386845:E301V;ENSP00000338225:E199V;ENSP00000386379:E225V;ENSP00000386507:E199V;ENSP00000394038:E199V	ENSP00000338225:E199V	E	-	2	0	ZNF385B	180019511	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.236000	0.73375	0.533000	0.62120	GAG	.	.		0.378	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
ITGA4	3676	hgsc.bcm.edu	37	2	182339916	182339916	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:182339916T>G	ENST00000397033.2	+	4	887	c.457T>G	c.(457-459)Tac>Gac	p.Y153D	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.Y153D	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	153					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AAATATATTTTACATAAAGAA	0.393																																					p.Y153D		Atlas-SNP	.											.	ITGA4	142	.	0			c.T457G						.						78.0	79.0	78.0					2																	182339916		1822	4078	5900	SO:0001583	missense	3676	exon4			ATATTTTACATAA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.457T>G	chr2.hg19:g.182339916T>G	ENSP00000380227:p.Tyr153Asp	115.0	0.0		125.0	55.0	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	hg19	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326980	0.81690	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.63913	-0.07;0.93;0.93	5.42	5.42	0.78866	.	0.124326	0.56097	D	0.000028	T	0.78880	0.4353	M	0.79123	2.44	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.955	T	0.80491	-0.1359	10	0.51188	T	0.08	.	14.9337	0.70935	0.0:0.0:0.0:1.0	.	153;153	E7EP60;P13612	.;ITA4_HUMAN	D	153	ENSP00000340149:Y153D;ENSP00000380227:Y153D;ENSP00000233573:Y153D	ENSP00000233573:Y153D	Y	+	1	0	ITGA4	182048161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.323000	0.72891	2.176000	0.68965	0.528000	0.53228	TAC	.	.		0.393	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
CERKL	375298	hgsc.bcm.edu	37	2	182413408	182413408	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:182413408T>A	ENST00000339098.5	-	8	1149	c.1150A>T	c.(1150-1152)Aag>Tag	p.K384*	CERKL_ENST00000409440.3_Splice_Site_p.K340*|CERKL_ENST00000374969.2_Splice_Site_p.K245*|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Splice_Site_p.K289*|CERKL_ENST00000410087.3_Splice_Site_p.K358*			Q49MI3	CERKL_HUMAN	ceramide kinase-like	384					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGACTTACTTAAGTTTTGCC	0.368																																					p.K384X		Atlas-SNP	.											.	CERKL	138	.	0			c.A1150T						.						91.0	92.0	92.0					2																	182413408		2203	4300	6503	SO:0001630	splice_region_variant	375298	exon8			CTTACTTAAGTTT	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1151+1A>T	chr2.hg19:g.182413408T>A		225.0	0.0		191.0	82.0	NM_001030311	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Nonsense_Mutation	SNP	ENST00000339098.5	hg19	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	37	6.440394	0.97568	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	.	.	.	5.62	5.62	0.85841	.	0.104341	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	15.8317	0.78757	0.0:0.0:0.0:1.0	.	.	.	.	X	358;340;245;384;289	.	ENSP00000341159:K384X	K	-	1	0	CERKL	182121653	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.991000	0.63883	2.136000	0.66102	0.533000	0.62120	AAG	.	.		0.368	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		Nonsense_Mutation
NEUROD1	4760	hgsc.bcm.edu	37	2	182543118	182543118	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:182543118A>G	ENST00000295108.3	-	2	927	c.470T>C	c.(469-471)cTg>cCg	p.L157P	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	157				L -> S (in Ref. 1; AAA93480). {ECO:0000305}.	amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCCTGAGCGCAGGATCTCCGA	0.567																																					p.L157P		Atlas-SNP	.											.	NEUROD1	67	.	0			c.T470C						.						81.0	78.0	79.0					2																	182543118		2203	4300	6503	SO:0001583	missense	4760	exon2			GAGCGCAGGATCT	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.470T>C	chr2.hg19:g.182543118A>G	ENSP00000295108:p.Leu157Pro	62.0	0.0		63.0	29.0	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	hg19	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192975	0.58017	.	.	ENSG00000162992	ENST00000295108	D	0.90261	-2.64	6.02	6.02	0.97574	Helix-loop-helix DNA-binding (3);	0.000000	0.64402	D	0.000001	D	0.96917	0.8993	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98034	1.0378	10	0.87932	D	0	-19.2817	15.3734	0.74584	1.0:0.0:0.0:0.0	.	157	Q13562	NDF1_HUMAN	P	157	ENSP00000295108:L157P	ENSP00000295108:L157P	L	-	2	0	NEUROD1	182251363	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.339000	0.96797	2.299000	0.77371	0.528000	0.53228	CTG	.	.		0.567	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500	
FSIP2	401024	hgsc.bcm.edu	37	2	186671974	186671974	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:186671974A>G	ENST00000424728.1	+	17	17941	c.17941A>G	c.(17941-17943)Aag>Gag	p.K5981E	FSIP2_ENST00000343098.5_Missense_Mutation_p.K6070E			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5981										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGGAATCTAAGGATGTTGT	0.348																																					p.K6070E		Atlas-SNP	.											.	FSIP2	251	.	0			c.A18208G						.						127.0	121.0	123.0					2																	186671974		1843	4077	5920	SO:0001583	missense	401024	exon17			GAATCTAAGGATG	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17941A>G	chr2.hg19:g.186671974A>G	ENSP00000401306:p.Lys5981Glu	91.0	0.0		98.0	38.0	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.48	3.401071	0.62288	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.61742	0.08;0.09	4.8	4.8	0.61643	.	0.115679	0.38663	N	0.001609	T	0.47451	0.1446	L	0.36672	1.1	0.29007	N	0.887087	.	.	.	.	.	.	T	0.40515	-0.9559	8	0.12103	T	0.63	.	10.6341	0.45554	1.0:0.0:0.0:0.0	.	.	.	.	E	6070;5981	ENSP00000344403:K6070E;ENSP00000401306:K5981E	ENSP00000344403:K6070E	K	+	1	0	FSIP2	186380219	0.501000	0.26099	0.933000	0.37362	0.947000	0.59692	2.125000	0.42016	2.002000	0.58637	0.402000	0.26972	AAG	.	.		0.348	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
COL3A1	1281	hgsc.bcm.edu	37	2	189864285	189864285	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:189864285T>A	ENST00000304636.3	+	31	2381	c.2211T>A	c.(2209-2211)ccT>ccA	p.P737P	COL3A1_ENST00000317840.5_Silent_p.P737P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	737	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTGGAAGTCCTGGTCCAAAGG	0.463																																					p.P737P		Atlas-SNP	.											.	COL3A1	292	.	0			c.T2211A						.						83.0	92.0	89.0					2																	189864285		2203	4300	6503	SO:0001819	synonymous_variant	1281	exon31			AAGTCCTGGTCCA	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2211T>A	chr2.hg19:g.189864285T>A		43.0	0.0		48.0	25.0	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	hg19	CCDS2297.1																																																																																			.	.		0.463	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
SDPR	8436	hgsc.bcm.edu	37	2	192711467	192711467	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:192711467A>T	ENST00000304141.4	-	1	514	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CAGCTTGTCCAGGAGCGTGAG	0.577																																					p.L62Q		Atlas-SNP	.											.	SDPR	67	.	0			c.T185A						.						117.0	96.0	103.0					2																	192711467		2203	4300	6503	SO:0001583	missense	8436	exon1			TTGTCCAGGAGCG	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.185T>A	chr2.hg19:g.192711467A>T	ENSP00000305675:p.Leu62Gln	90.0	0.0		77.0	38.0	NM_004657		Missense_Mutation	SNP	ENST00000304141.4	hg19	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283522	0.80803	.	.	ENSG00000168497	ENST00000304141	T	0.78707	-1.2	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000003	D	0.88288	0.6396	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90215	0.4267	10	0.87932	D	0	-25.3798	14.4766	0.67551	1.0:0.0:0.0:0.0	.	62	O95810	SDPR_HUMAN	Q	62	ENSP00000305675:L62Q	ENSP00000305675:L62Q	L	-	2	0	SDPR	192419712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.045000	0.93812	2.073000	0.62155	0.397000	0.26171	CTG	.	.		0.577	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
RFTN2	130132	hgsc.bcm.edu	37	2	198540055	198540055	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:198540055A>T	ENST00000295049.4	-	1	664	c.128T>A	c.(127-129)tTt>tAt	p.F43Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	43					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TTGTAGAGTAAAATCCAGCAA	0.333																																					p.F43Y		Atlas-SNP	.											.	RFTN2	68	.	0			c.T128A						.						116.0	122.0	120.0					2																	198540055		2203	4300	6503	SO:0001583	missense	130132	exon1			AGAGTAAAATCCA	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.128T>A	chr2.hg19:g.198540055A>T	ENSP00000295049:p.Phe43Tyr	107.0	0.0		71.0	28.0	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	hg19	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.037776	0.93630	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.57752	0.38;0.38	5.83	5.83	0.93111	.	0.099528	0.64402	D	0.000001	T	0.72953	0.3525	M	0.77313	2.365	0.58432	D	0.999993	D	0.71674	0.998	D	0.81914	0.995	T	0.76769	-0.2837	10	0.87932	D	0	-15.6514	14.7678	0.69654	1.0:0.0:0.0:0.0	.	43	Q52LD8	RFTN2_HUMAN	Y	43	ENSP00000295049:F43Y;ENSP00000398128:F43Y	ENSP00000295049:F43Y	F	-	2	0	RFTN2	198248300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.546000	0.90661	2.217000	0.71921	0.477000	0.44152	TTT	.	.		0.333	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
AOX1	316	hgsc.bcm.edu	37	2	201469552	201469552	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:201469552A>G	ENST00000374700.2	+	9	1044	c.803A>G	c.(802-804)aAc>aGc	p.N268S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	268	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCATGGGAAACACCTCTGTG	0.483																																					p.N268S		Atlas-SNP	.											.	AOX1	152	.	0			c.A803G						.						72.0	70.0	71.0					2																	201469552		2203	4300	6503	SO:0001583	missense	316	exon9			TGGGAAACACCTC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.803A>G	chr2.hg19:g.201469552A>G	ENSP00000363832:p.Asn268Ser	102.0	0.0		71.0	29.0	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	hg19	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091075	0.55968	.	.	ENSG00000138356	ENST00000374700	T	0.24908	1.83	5.27	5.27	0.74061	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.158517	0.56097	D	0.000023	T	0.50034	0.1592	M	0.81112	2.525	0.58432	D	0.999999	P	0.36465	0.554	P	0.52554	0.702	T	0.53387	-0.8446	10	0.72032	D	0.01	-44.6121	15.3661	0.74523	1.0:0.0:0.0:0.0	.	268	Q06278	ADO_HUMAN	S	268	ENSP00000363832:N268S	ENSP00000363832:N268S	N	+	2	0	AOX1	201177797	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	6.689000	0.74562	2.226000	0.72624	0.459000	0.35465	AAC	.	.		0.483	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
CDK15	65061	hgsc.bcm.edu	37	2	202672587	202672587	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:202672587A>T	ENST00000374598.4	+	3	280	c.280A>T	c.(280-282)Agc>Tgc	p.S94C	Y_RNA_ENST00000365267.1_RNA|CDK15_ENST00000434439.1_Missense_Mutation_p.S94C|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.S43C|CDK15_ENST00000450471.2_Missense_Mutation_p.S94C|CDK15_ENST00000410091.3_Missense_Mutation_p.S43C			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	94							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GCAGAGGAAGAGCCTCCCTTT	0.473																																					p.S94C		Atlas-SNP	.											.	CDK15	66	.	0			c.A280T						.						81.0	82.0	81.0					2																	202672587		2203	4300	6503	SO:0001583	missense	65061	exon3			AGGAAGAGCCTCC	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.280A>T	chr2.hg19:g.202672587A>T	ENSP00000363726:p.Ser94Cys	54.0	0.0		53.0	27.0	NM_001261435	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	hg19		.	.	.	.	.	.	.	.	.	.	A	15.22	2.769870	0.49680	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.5;-0.51	5.54	4.4	0.53042	.	0.508110	0.21563	N	0.072526	T	0.60881	0.2303	N	0.14661	0.345	0.32569	N	0.530099	D;P	0.60575	0.988;0.947	P;P	0.52710	0.707;0.594	T	0.69285	-0.5185	10	0.72032	D	0.01	0.0687	7.0199	0.24908	0.784:0.0:0.216:0.0	.	94;94	Q96Q40-2;F8W6H8	.;.	C	43;43;94;94;94	ENSP00000386901:S43C;ENSP00000260967:S43C;ENSP00000406472:S94C;ENSP00000412775:S94C;ENSP00000363726:S94C	ENSP00000260967:S43C	S	+	1	0	CDK15	202380832	1.000000	0.71417	0.983000	0.44433	0.574000	0.36063	4.558000	0.60789	2.102000	0.63906	0.528000	0.53228	AGC	.	.		0.473	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2		
CARF	79800	hgsc.bcm.edu	37	2	203834660	203834660	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:203834660A>G	ENST00000402905.3	+	10	1293	c.972A>G	c.(970-972)gtA>gtG	p.V324V	CARF_ENST00000414439.1_Silent_p.V222V|CARF_ENST00000320443.8_Silent_p.V324V|CARF_ENST00000438828.2_Silent_p.V324V|CARF_ENST00000545253.1_Silent_p.V236V|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545262.1_Silent_p.V248V|CARF_ENST00000428585.1_Silent_p.V248V	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	324					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTAAAAAGGTACAGAAGTTTC	0.294																																					p.V324V		Atlas-SNP	.											.	ALS2CR8	56	.	0			c.A972G						.						56.0	50.0	52.0					2																	203834660		1785	4059	5844	SO:0001819	synonymous_variant	79800	exon11			AAAGGTACAGAAG	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.972A>G	chr2.hg19:g.203834660A>G		256.0	0.0		200.0	108.0	NM_024744	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	hg19	CCDS42801.1																																																																																			.	.		0.294	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
ADAM23	8745	hgsc.bcm.edu	37	2	207346034	207346034	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:207346034T>C	ENST00000264377.3	+	3	837		c.e3+2		ADAM23_ENST00000374416.1_Splice_Site|ADAM23_ENST00000374415.3_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACTGAACAAGTGAGTATTTAG	0.363																																					.	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											.	ADAM23	239	.	0			c.509+2T>C						.						50.0	50.0	50.0					2																	207346034		2203	4300	6503	SO:0001630	splice_region_variant	8745	exon3			AACAAGTGAGTAT	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.509+2T>C	chr2.hg19:g.207346034T>C		238.0	0.0		241.0	112.0	NM_003812	A2RU59	Splice_Site	SNP	ENST00000264377.3	hg19	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962280	0.53400	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0463	0.64706	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM23	207054279	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.454000	0.73493	2.016000	0.59253	0.528000	0.53228	.	.	.		0.363	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	Intron
ADAM23	8745	hgsc.bcm.edu	37	2	207424750	207424750	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:207424750T>A	ENST00000264377.3	+	11	1405	c.1077T>A	c.(1075-1077)atT>atA	p.I359I	ADAM23_ENST00000374416.1_Silent_p.I359I|ADAM23_ENST00000374415.3_Silent_p.I359I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	359	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGATCAGATTGACATCACCA	0.517																																					p.I359I	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											.	ADAM23	239	.	0			c.T1077A						.						132.0	110.0	118.0					2																	207424750		2203	4300	6503	SO:0001819	synonymous_variant	8745	exon11			TCAGATTGACATC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1077T>A	chr2.hg19:g.207424750T>A		87.0	0.0		60.0	21.0	NM_003812	A2RU59	Silent	SNP	ENST00000264377.3	hg19	CCDS2369.1																																																																																			.	.		0.517	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
ADAM23	8745	hgsc.bcm.edu	37	2	207436495	207436495	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:207436495G>T	ENST00000264377.3	+	17	1939	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	ADAM23_ENST00000374416.1_Silent_p.G537G|ADAM23_ENST00000374415.3_Silent_p.G537G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	537	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCTCCAACGGGGCTCACTGCA	0.438																																					p.G537G	Melanoma(194;1127 2130 19620 24042 27855)	Atlas-SNP	.											.	ADAM23	239	.	0			c.G1611T						.						131.0	123.0	126.0					2																	207436495		2203	4300	6503	SO:0001819	synonymous_variant	8745	exon17			CAACGGGGCTCAC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1611G>T	chr2.hg19:g.207436495G>T		45.0	0.0		50.0	18.0	NM_003812	A2RU59	Silent	SNP	ENST00000264377.3	hg19	CCDS2369.1																																																																																			.	.		0.438	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812	
C2orf80	389073	hgsc.bcm.edu	37	2	209047758	209047758	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:209047758A>G	ENST00000341287.4	-	4	332	c.137T>C	c.(136-138)tTg>tCg	p.L46S	C2orf80_ENST00000451346.1_Missense_Mutation_p.L27S|C2orf80_ENST00000453017.1_Missense_Mutation_p.L46S	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	46										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ACTGATGGCCAAGTCATAGTG	0.493																																					p.L46S		Atlas-SNP	.											.	C2orf80	19	.	0			c.T137C						.						133.0	130.0	131.0					2																	209047758		1995	4172	6167	SO:0001583	missense	389073	exon4			ATGGCCAAGTCAT	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.137T>C	chr2.hg19:g.209047758A>G	ENSP00000343171:p.Leu46Ser	103.0	0.0		77.0	33.0	NM_001099334	A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	hg19	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061578	0.76187	.	.	ENSG00000188674	ENST00000341287;ENST00000451346;ENST00000453017;ENST00000449053	T;T;T	0.59224	1.18;1.06;0.28	5.43	5.43	0.79202	.	0.000000	0.44097	D	0.000489	T	0.66015	0.2747	L	0.34521	1.04	0.37976	D	0.933453	D	0.89917	1.0	D	0.91635	0.999	T	0.72171	-0.4371	10	0.87932	D	0	-10.0505	13.0967	0.59197	1.0:0.0:0.0:0.0	.	46	Q0P641	CB080_HUMAN	S	46;27;46;46	ENSP00000343171:L46S;ENSP00000405393:L27S;ENSP00000397144:L46S	ENSP00000343171:L46S	L	-	2	0	C2orf80	208756003	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.767000	0.68850	2.279000	0.76181	0.533000	0.62120	TTG	.	.		0.493	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334	
PTH2R	5746	hgsc.bcm.edu	37	2	209345825	209345825	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:209345825A>T	ENST00000272847.2	+	10	1225	c.1012A>T	c.(1012-1014)Aga>Tga	p.R338*	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	338					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GAATACGGTTAGAGTTCTAGC	0.338																																					p.R338X		Atlas-SNP	.											.	PTH2R	92	.	0			c.A1012T						.						96.0	95.0	96.0					2																	209345825		2203	4300	6503	SO:0001587	stop_gained	5746	exon10			ACGGTTAGAGTTC	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1012A>T	chr2.hg19:g.209345825A>T	ENSP00000272847:p.Arg338*	181.0	0.0		178.0	69.0	NM_005048	Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	hg19	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	39	7.591607	0.98378	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.69	5.69	0.88448	.	0.000000	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2742	0.43499	0.8342:0.1657:0.0:0.0	.	.	.	.	X	338	.	.	R	+	1	2	PTH2R	209054070	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.189000	0.42621	2.293000	0.77203	0.528000	0.53228	AGA	.	.		0.338	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
UNC80	285175	hgsc.bcm.edu	37	2	210843330	210843330	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:210843330C>A	ENST00000439458.1	+	58	8898	c.8818C>A	c.(8818-8820)Cgc>Agc	p.R2940S	UNC80_ENST00000539183.1_Missense_Mutation_p.R386S|UNC80_ENST00000272845.6_Missense_Mutation_p.R2935S	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2940					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CACCATGTCCCGCTCTAACAC	0.597																																					p.R2940S		Atlas-SNP	.											.	UNC80	280	.	0			c.C8818A						.						86.0	74.0	78.0					2																	210843330		692	1591	2283	SO:0001583	missense	285175	exon58			ATGTCCCGCTCTA	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.8818C>A	chr2.hg19:g.210843330C>A	ENSP00000391088:p.Arg2940Ser	155.0	0.0		111.0	52.0	NM_032504	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	hg19	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282072	0.95489	.	.	ENSG00000144406	ENST00000439458;ENST00000272845;ENST00000333907;ENST00000539183	T;T	0.38401	1.14;1.14	5.45	5.45	0.79879	.	.	.	.	.	T	0.44726	0.1307	N	0.19112	0.55	0.54753	D	0.999986	D;D	0.67145	0.996;0.996	D;D	0.79108	0.992;0.992	T	0.17048	-1.0382	9	0.12766	T	0.61	.	19.6306	0.95700	0.0:1.0:0.0:0.0	.	2935;2940	C9J1U3;Q8N2C7	.;UNC80_HUMAN	S	2940;2935;466;386	ENSP00000391088:R2940S;ENSP00000272845:R2935S	ENSP00000272845:R2935S	R	+	1	0	UNC80	210551575	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.776000	0.85560	2.718000	0.92993	0.591000	0.81541	CGC	.	.		0.597	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
MARCH4	57574	hgsc.bcm.edu	37	2	217124264	217124264	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:217124264C>A	ENST00000273067.4	-	4	2770	c.1004G>T	c.(1003-1005)cGg>cTg	p.R335L	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	335						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TGAGGAGGTCCGGGGGTTGGT	0.617																																					p.R335L		Atlas-SNP	.											.	MARCH4	50	.	0			c.G1004T						.						79.0	72.0	75.0					2																	217124264		2203	4300	6503	SO:0001583	missense	57574	exon4			GAGGTCCGGGGGT	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1004G>T	chr2.hg19:g.217124264C>A	ENSP00000273067:p.Arg335Leu	114.0	0.0		89.0	34.0	NM_020814	Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	hg19	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639412	0.47153	.	.	ENSG00000144583	ENST00000273067	T	0.15372	2.43	5.62	3.8	0.43715	.	0.752409	0.12792	N	0.438800	T	0.16642	0.0400	L	0.36672	1.1	0.29816	N	0.831278	P	0.36392	0.551	B	0.40901	0.343	T	0.11012	-1.0605	10	0.46703	T	0.11	-12.2027	8.0386	0.30508	0.0:0.7532:0.0:0.2468	.	335	Q9P2E8	MARH4_HUMAN	L	335	ENSP00000273067:R335L	ENSP00000273067:R335L	R	-	2	0	MARCH4	216832509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.112000	0.50368	0.715000	0.32103	0.561000	0.74099	CGG	.	.		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
TNS1	7145	hgsc.bcm.edu	37	2	218713037	218713037	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:218713037C>A	ENST00000171887.4	-	17	2280	c.1828G>T	c.(1828-1830)Gcc>Tcc	p.A610S	TNS1_ENST00000419504.1_Missense_Mutation_p.A610S|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_Missense_Mutation_p.A610S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	610					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGTCATGGGCATAGTGGGAG	0.657																																					p.A610S		Atlas-SNP	.											.	TNS1	251	.	0			c.G1828T						.						65.0	57.0	60.0					2																	218713037		2202	4300	6502	SO:0001583	missense	7145	exon17			CATGGGCATAGTG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1828G>T	chr2.hg19:g.218713037C>A	ENSP00000171887:p.Ala610Ser	100.0	0.0		91.0	32.0	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	hg19	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.511495	0.00984	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93189	-2.66;-2.7;-2.7;-3.18	4.57	1.82	0.25136	.	0.322159	0.28883	N	0.013835	T	0.77624	0.4158	N	0.02247	-0.625	0.09310	N	0.99999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.65368	-0.6185	10	0.16896	T	0.51	.	4.7273	0.12946	0.1499:0.6103:0.0:0.2398	.	610;664;610;610;610	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	S	610;610;610;735	ENSP00000171887:A610S;ENSP00000408724:A610S;ENSP00000406016:A610S;ENSP00000405460:A735S	ENSP00000171887:A610S	A	-	1	0	TNS1	218421282	0.000000	0.05858	0.579000	0.28588	0.463000	0.32649	-0.202000	0.09451	0.193000	0.20303	0.561000	0.74099	GCC	.	.		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TTLL4	9654	hgsc.bcm.edu	37	2	219609870	219609870	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:219609870A>T	ENST00000392102.1	+	6	2040	c.1700A>T	c.(1699-1701)cAt>cTt	p.H567L	TTLL4_ENST00000457313.1_Missense_Mutation_p.H402L|TTLL4_ENST00000442769.1_Missense_Mutation_p.H567L|TTLL4_ENST00000258398.4_Missense_Mutation_p.H567L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	567					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTTTCCAATCATGAGAAAGTT	0.468																																					p.H567L	GBM(172;1818 2053 15407 20943 49753)	Atlas-SNP	.											.	TTLL4	96	.	0			c.A1700T						.						200.0	193.0	195.0					2																	219609870		2203	4300	6503	SO:0001583	missense	9654	exon6			CCAATCATGAGAA		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1700A>T	chr2.hg19:g.219609870A>T	ENSP00000375951:p.His567Leu	152.0	0.0		116.0	43.0	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	hg19	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510596	0.44660	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.03951	3.95;4.19;3.75;4.19	3.82	2.61	0.31194	.	1.369470	0.04666	N	0.409786	T	0.04182	0.0116	N	0.22421	0.69	0.32069	N	0.594701	B;B;B	0.29432	0.003;0.244;0.02	B;B;B	0.26864	0.004;0.074;0.007	T	0.41645	-0.9497	10	0.13470	T	0.59	.	8.1458	0.31110	0.7955:0.2045:0.0:0.0	.	402;567;567	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	L	402;567;567;567	ENSP00000393332:H402L;ENSP00000375951:H567L;ENSP00000396555:H567L;ENSP00000258398:H567L	ENSP00000258398:H567L	H	+	2	0	TTLL4	219318114	0.962000	0.33011	0.994000	0.49952	0.994000	0.84299	1.591000	0.36665	0.482000	0.27582	0.533000	0.62120	CAT	.	.		0.468	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
DES	1674	hgsc.bcm.edu	37	2	220285630	220285630	+	Missense_Mutation	SNP	C	C	A	rs375238266		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:220285630C>A	ENST00000373960.3	+	5	1064	c.978C>A	c.(976-978)caC>caA	p.H326Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	326	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATACCGACACCAGATCCAGT	0.612																																					p.H326Q		Atlas-SNP	.											.	DES	53	.	0			c.C978A						.						98.0	88.0	91.0					2																	220285630		2203	4300	6503	SO:0001583	missense	1674	exon5			CCGACACCAGATC	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.978C>A	chr2.hg19:g.220285630C>A	ENSP00000363071:p.His326Gln	68.0	0.0		61.0	26.0	NM_001927	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	hg19	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064285	0.93898	.	.	ENSG00000175084	ENST00000373960	D	0.95554	-3.74	4.91	4.91	0.64330	Filament (1);	0.000000	0.51477	D	0.000086	D	0.95573	0.8561	L	0.28274	0.84	0.58432	D	0.999999	D	0.60160	0.987	D	0.65233	0.933	D	0.96361	0.9266	10	0.66056	D	0.02	.	17.8922	0.88876	0.0:1.0:0.0:0.0	.	326	P17661	DESM_HUMAN	Q	326	ENSP00000363071:H326Q	ENSP00000363071:H326Q	H	+	3	2	DES	219993874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.962000	0.56766	2.533000	0.85409	0.561000	0.74099	CAC	.	.		0.612	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
SPEG	10290	hgsc.bcm.edu	37	2	220342465	220342465	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:220342465G>T	ENST00000312358.7	+	21	4916	c.4784G>T	c.(4783-4785)aGg>aTg	p.R1595M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1595					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCGAGGAAGGAGACTCAGC	0.597																																					p.R1595M		Atlas-SNP	.											.	SPEG	272	.	0			c.G4784T						.						92.0	100.0	97.0					2																	220342465		2038	4177	6215	SO:0001583	missense	10290	exon21			GAGGAAGGAGACT	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4784G>T	chr2.hg19:g.220342465G>T	ENSP00000311684:p.Arg1595Met	91.0	0.0		75.0	29.0	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	hg19	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454963	0.43634	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.40225	1.04	4.84	2.07	0.26955	Protein kinase-like domain (1);	0.602886	0.13983	N	0.349370	T	0.49081	0.1536	L	0.45470	1.425	0.80722	D	1	D	0.61697	0.99	P	0.59703	0.862	T	0.40308	-0.9570	10	0.44086	T	0.13	.	9.164	0.37041	0.2411:0.0:0.7589:0.0	.	1595	Q15772	SPEG_HUMAN	M	1595	ENSP00000311684:R1595M	ENSP00000265327:R1595M	R	+	2	0	SPEG	220050709	0.062000	0.20869	0.998000	0.56505	0.884000	0.51177	1.411000	0.34702	0.747000	0.32809	0.655000	0.94253	AGG	.	.		0.597	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
CHPF	79586	hgsc.bcm.edu	37	2	220406616	220406616	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:220406616T>A	ENST00000243776.6	-	2	858	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	TMEM198_ENST00000373883.3_5'Flank|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.T204S|CHPF_ENST00000535926.1_Missense_Mutation_p.T42S	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	204					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGCCTCGGTGTAGGTGGTG	0.687											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T204S		Atlas-SNP	.											.	CHPF	56	.	0			c.A610T						.						34.0	29.0	31.0					2																	220406616		2201	4300	6501	SO:0001583	missense	79586	exon2			CCTCGGTGTAGGT	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.610A>T	chr2.hg19:g.220406616T>A	ENSP00000243776:p.Thr204Ser	77.0	0.0	2266	55.0	25.0	NM_024536	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	hg19	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.964770	0.92791	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.11604	2.76;2.77	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.68317	2.08	0.58432	D	0.999992	D;P	0.67145	0.996;0.82	D;B	0.77557	0.99;0.421	T	0.03717	-1.1010	10	0.72032	D	0.01	-19.8638	13.8997	0.63794	0.0:0.0:0.0:1.0	.	204;204	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	S	204;42;204	ENSP00000243776:T204S;ENSP00000445571:T42S	ENSP00000243776:T204S	T	-	1	0	CHPF	220114860	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	6.128000	0.71650	1.950000	0.56595	0.448000	0.29417	ACC	.	.		0.687	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
CCDC140	151278	hgsc.bcm.edu	37	2	223168828	223168828	+	Silent	SNP	A	A	T	rs567359483		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:223168828A>T	ENST00000295226.1	+	2	591	c.207A>T	c.(205-207)ccA>ccT	p.P69P		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	69										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAGGGGCCAAGCCCGGCGC	0.597																																					p.P69P		Atlas-SNP	.											.	CCDC140	20	.	0			c.A207T						.						46.0	50.0	48.0					2																	223168828		2203	4300	6503	SO:0001819	synonymous_variant	151278	exon2			GGGGCCAAGCCCG	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.207A>T	chr2.hg19:g.223168828A>T		281.0	0.0		231.0	116.0	NM_153038		Silent	SNP	ENST00000295226.1	hg19	CCDS2452.1																																																																																			.	.		0.597	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038	
DOCK10	55619	hgsc.bcm.edu	37	2	225635277	225635277	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:225635277A>C	ENST00000258390.7	-	54	6357	c.6290T>G	c.(6289-6291)tTg>tGg	p.L2097W	DOCK10_ENST00000409592.3_Missense_Mutation_p.L2091W	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2097	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTCCTTCAAAAGCTTTAC	0.448																																					p.L2097W		Atlas-SNP	.											.	DOCK10	308	.	0			c.T6290G						.						120.0	130.0	127.0					2																	225635277		1904	4117	6021	SO:0001583	missense	55619	exon54			TCCTTCAAAAGCT	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6290T>G	chr2.hg19:g.225635277A>C	ENSP00000258390:p.Leu2097Trp	106.0	0.0		95.0	37.0	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189134	0.78789	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.51574	0.7;0.7	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.75554	0.3865	M	0.93016	3.37	0.52099	D	0.999945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82621	-0.0367	10	0.87932	D	0	.	14.8975	0.70654	1.0:0.0:0.0:0.0	.	2097;2091;759	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	W	2091;2097;604	ENSP00000386694:L2091W;ENSP00000258390:L2097W	ENSP00000258390:L2097W	L	-	2	0	DOCK10	225343521	1.000000	0.71417	0.974000	0.42286	0.898000	0.52572	8.962000	0.93254	1.928000	0.55862	0.533000	0.62120	TTG	.	.		0.448	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
COL4A4	1286	hgsc.bcm.edu	37	2	227875174	227875174	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:227875174G>T	ENST00000396625.3	-	46	4584	c.4377C>A	c.(4375-4377)ggC>ggA	p.G1459G	COL4A4_ENST00000329662.7_Silent_p.G1456G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1459	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTATCCAGGGCCAAACCCTT	0.572																																					p.G1459G		Atlas-SNP	.											.	COL4A4	215	.	0			c.C4377A						.						28.0	28.0	28.0					2																	227875174		1845	4089	5934	SO:0001819	synonymous_variant	1286	exon46			TCCAGGGCCAAAC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4377C>A	chr2.hg19:g.227875174G>T		144.0	0.0		135.0	64.0	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	hg19	CCDS42828.1																																																																																			.	.		0.572	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
AGFG1	3267	hgsc.bcm.edu	37	2	228398301	228398301	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:228398301A>T	ENST00000310078.8	+	7	1111	c.851A>T	c.(850-852)cAt>cTt	p.H284L	AGFG1_ENST00000409979.2_Missense_Mutation_p.H308L|AGFG1_ENST00000409315.1_Missense_Mutation_p.H284L|AGFG1_ENST00000409171.1_Missense_Mutation_p.H284L|AGFG1_ENST00000373671.3_Missense_Mutation_p.H244L	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	284					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AATTTTGCTCATTTTGATAAC	0.393																																					p.H308L		Atlas-SNP	.											.	AGFG1	80	.	0			c.A923T						.						98.0	93.0	95.0					2																	228398301		2203	4300	6503	SO:0001583	missense	3267	exon8			TTGCTCATTTTGA		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.851A>T	chr2.hg19:g.228398301A>T	ENSP00000312059:p.His284Leu	109.0	0.0		86.0	39.0	NM_001135187	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	hg19	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420784	0.62622	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.23147	1.95;1.92;1.95;1.94;1.92	5.14	5.14	0.70334	.	0.169968	0.52532	D	0.000063	T	0.19406	0.0466	L	0.36672	1.1	0.47065	D	0.999308	B;B;P;B	0.34462	0.43;0.187;0.454;0.276	B;B;B;B	0.26693	0.072;0.037;0.053;0.016	T	0.03852	-1.0998	10	0.26408	T	0.33	.	14.9528	0.71088	1.0:0.0:0.0:0.0	.	244;284;308;284	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	L	308;293;284;284;244;284;206	ENSP00000387282:H308L;ENSP00000312059:H284L;ENSP00000387154:H284L;ENSP00000362775:H244L;ENSP00000387218:H284L	ENSP00000312059:H284L	H	+	2	0	AGFG1	228106545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.335000	0.90031	1.940000	0.56252	0.533000	0.62120	CAT	.	.		0.393	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
DAW1	164781	hgsc.bcm.edu	37	2	228762991	228762991	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:228762991A>T	ENST00000309931.2	+	6	617	c.534A>T	c.(532-534)gcA>gcT	p.A178A	DAW1_ENST00000373666.2_Silent_p.A178A|DAW1_ENST00000545118.1_Silent_p.A163A	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	178						cilium (GO:0005929)											GTCATACAGCAGAAATAGTGA	0.353																																					p.A178A		Atlas-SNP	.											.	.	.	.	0			c.A534T						.						35.0	36.0	35.0					2																	228762991		2201	4298	6499	SO:0001819	synonymous_variant	164781	exon6			TACAGCAGAAATA		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.534A>T	chr2.hg19:g.228762991A>T		451.0	0.0		384.0	143.0	NM_178821	Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	hg19	CCDS2470.1																																																																																			.	.		0.353	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
SLC16A14	151473	hgsc.bcm.edu	37	2	230911189	230911189	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:230911189G>T	ENST00000295190.4	-	4	1111	c.653C>A	c.(652-654)cCa>cAa	p.P218Q		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGGGTCGTTTGGGTTTTTACC	0.542																																					p.P218Q		Atlas-SNP	.											.	SLC16A14	75	.	0			c.C653A						.						55.0	61.0	59.0					2																	230911189		2203	4300	6503	SO:0001583	missense	151473	exon4			TCGTTTGGGTTTT	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.653C>A	chr2.hg19:g.230911189G>T	ENSP00000295190:p.Pro218Gln	114.0	0.0		107.0	51.0	NM_152527	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	hg19	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	0.474	-0.883148	0.02530	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.58060	0.36;0.36;0.36	4.94	-3.37	0.04898	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.381430	0.01321	N	0.010959	T	0.30070	0.0753	N	0.12569	0.235	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.19946	0.014;0.027	T	0.11842	-1.0571	10	0.12103	T	0.63	.	4.9684	0.14102	0.1027:0.3202:0.4283:0.1488	.	218;218	E7EMG7;Q7RTX9	.;MOT14_HUMAN	Q	218	ENSP00000295190:P218Q;ENSP00000400352:P218Q;ENSP00000395775:P218Q	ENSP00000295190:P218Q	P	-	2	0	SLC16A14	230619433	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.512000	0.06313	-0.545000	0.06224	-0.165000	0.13383	CCA	.	.		0.542	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
CAB39	51719	hgsc.bcm.edu	37	2	231655654	231655654	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:231655654A>T	ENST00000258418.5	+	3	611	c.182A>T	c.(181-183)gAg>gTg	p.E61V	CAB39_ENST00000410084.3_Missense_Mutation_p.E61V|CAB39_ENST00000409788.3_Missense_Mutation_p.E61V|CAB39_ENST00000484398.1_3'UTR	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	61					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		AATGAAAAAGAGCCTCAGACA	0.418																																					p.E61V		Atlas-SNP	.											.	CAB39	30	.	0			c.A182T						.						67.0	73.0	71.0					2																	231655654		2203	4300	6503	SO:0001583	missense	51719	exon3			AAAAAGAGCCTCA	AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.182A>T	chr2.hg19:g.231655654A>T	ENSP00000258418:p.Glu61Val	178.0	0.0		152.0	60.0	NM_001130849	A8K8L7	Missense_Mutation	SNP	ENST00000258418.5	hg19	CCDS2478.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.923420	0.92319	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	T;T;T	0.36699	1.24;1.24;1.24	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	M	0.89658	3.05	0.80722	D	1	P	0.43857	0.819	P	0.51079	0.658	T	0.67499	-0.5655	10	0.72032	D	0.01	.	13.4644	0.61245	1.0:0.0:0.0:0.0	.	61	Q9Y376	CAB39_HUMAN	V	61	ENSP00000258418:E61V;ENSP00000386238:E61V;ENSP00000386642:E61V	ENSP00000258418:E61V	E	+	2	0	CAB39	231363898	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.063000	0.61619	0.528000	0.53228	GAG	.	.		0.418	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289	
PSMD1	5707	hgsc.bcm.edu	37	2	231944930	231944930	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:231944930G>A	ENST00000308696.6	+	12	1477	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	PSMD1_ENST00000373635.4_Missense_Mutation_p.E439K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E439K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	439					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTATCAGGAAGGTGGAGG	0.408																																					p.E439K		Atlas-SNP	.											.	PSMD1	77	.	0			c.G1315A						.						144.0	132.0	136.0					2																	231944930		2203	4300	6503	SO:0001583	missense	5707	exon12			TATCAGGAAGGTG	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1315G>A	chr2.hg19:g.231944930G>A	ENSP00000309474:p.Glu439Lys	110.0	0.0		86.0	40.0	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	hg19	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478361	0.96291	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	6.07	5.2	0.72013	Armadillo-type fold (1);	0.043873	0.85682	D	0.000000	T	0.66386	0.2784	L	0.59912	1.85	0.80722	D	1	P;D	0.54964	0.589;0.969	B;P	0.57101	0.222;0.813	T	0.63107	-0.6711	9	0.20519	T	0.43	-20.641	15.2523	0.73556	0.0668:0.0:0.9332:0.0	.	439;439	Q99460;Q99460-2	PSMD1_HUMAN;.	K	439	.	ENSP00000309474:E439K	E	+	1	0	PSMD1	231653174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.629000	0.98417	1.584000	0.49913	0.655000	0.94253	GAA	.	.		0.408	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
DIS3L2	129563	hgsc.bcm.edu	37	2	232889007	232889007	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:232889007A>T	ENST00000409307.1	+	3	231	c.231A>T	c.(229-231)ccA>ccT	p.P77P	DIS3L2_ENST00000325385.7_Silent_p.P77P|DIS3L2_ENST00000409401.3_Silent_p.P77P|DIS3L2_ENST00000273009.6_Silent_p.P77P|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Silent_p.P77P					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATTAATCCAAAGAAGTTTC	0.279																																					p.P77P		Atlas-SNP	.											.	DIS3L2	77	.	0			c.A231T						.						62.0	63.0	62.0					2																	232889007		1787	4050	5837	SO:0001819	synonymous_variant	129563	exon4			TAATCCAAAGAAG	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.231A>T	chr2.hg19:g.232889007A>T		473.0	0.0		389.0	164.0	NM_001257282		Silent	SNP	ENST00000409307.1	hg19	CCDS42834.1																																																																																			.	.		0.279	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
DIS3L2	129563	hgsc.bcm.edu	37	2	233001416	233001416	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:233001416A>G	ENST00000409307.1	+	7	937	c.937A>G	c.(937-939)Aat>Gat	p.N313D	DIS3L2_ENST00000325385.7_Missense_Mutation_p.N313D|DIS3L2_ENST00000273009.6_Missense_Mutation_p.N313D|DIS3L2_ENST00000360410.4_Silent_p.A332A					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGAGGACTGCAATTTTGCCCT	0.473																																					p.N313D		Atlas-SNP	.											.	DIS3L2	77	.	0			c.A937G						.						89.0	86.0	87.0					2																	233001416		1929	4135	6064	SO:0001583	missense	129563	exon8			GACTGCAATTTTG	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.937A>G	chr2.hg19:g.233001416A>G	ENSP00000386799:p.Asn313Asp	113.0	0.0		126.0	63.0	NM_152383		Missense_Mutation	SNP	ENST00000409307.1	hg19	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658084	0.67586	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307	T;T;T	0.29397	1.57;1.96;1.96	6.08	4.88	0.63580	.	0.101704	0.64402	D	0.000004	T	0.27241	0.0668	L	0.43152	1.355	0.80722	D	1	B	0.23316	0.083	B	0.28011	0.085	T	0.05241	-1.0897	10	0.12103	T	0.63	-23.6705	14.7279	0.69357	0.872:0.128:0.0:0.0	.	313	Q8IYB7	DI3L2_HUMAN	D	313	ENSP00000273009:N313D;ENSP00000315569:N313D;ENSP00000386799:N313D	ENSP00000273009:N313D	N	+	1	0	DIS3L2	232709660	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.073000	0.64395	2.333000	0.79357	0.482000	0.46254	AAT	.	.		0.473	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
UGT1A10	54575	hgsc.bcm.edu	37	2	234545950	234545950	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:234545950A>G	ENST00000344644.5	+	1	851	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.Y261C	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	261					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	GTTTTGGACTATCCCAAACCC	0.443																																					p.Y261C		Atlas-SNP	.											.	UGT1A10	71	.	0			c.A782G						.						235.0	231.0	232.0					2																	234545950		2203	4298	6501	SO:0001583	missense	54575	exon1			TGGACTATCCCAA	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.782A>G	chr2.hg19:g.234545950A>G	ENSP00000343838:p.Tyr261Cys	89.0	0.0		82.0	34.0	NM_019075	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	hg19	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908829	0.33721	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.66460	-0.21;-0.21	3.52	0.57	0.17347	.	.	.	.	.	T	0.80597	0.4653	M	0.93720	3.45	0.19775	N	0.999954	D;D	0.54207	0.965;0.965	P;P	0.58391	0.755;0.838	T	0.68845	-0.5301	9	0.87932	D	0	.	5.8031	0.18424	0.5206:0.1332:0.0:0.3462	.	261;261	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	C	261	ENSP00000343838:Y261C;ENSP00000362544:Y261C	ENSP00000343838:Y261C	Y	+	2	0	UGT1A10	234210689	0.000000	0.05858	0.901000	0.35422	0.688000	0.40055	-0.108000	0.10857	-0.014000	0.14175	-1.591000	0.00844	TAT	.	.		0.443	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075	
SPP2	6694	hgsc.bcm.edu	37	2	234978570	234978570	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:234978570A>G	ENST00000168148.3	+	7	638		c.e7-1		SPP2_ENST00000373368.1_Splice_Site	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa						bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTCTATCTTTAGGGATCATGA	0.438																																					.		Atlas-SNP	.											.	SPP2	35	.	0			c.551-2A>G						.						98.0	94.0	96.0					2																	234978570		2203	4300	6503	SO:0001630	splice_region_variant	6694	exon7			ATCTTTAGGGATC		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.551-1A>G	chr2.hg19:g.234978570A>G		72.0	0.0		71.0	37.0	NM_006944	A4QMV3|Q3B892|Q546M5	Splice_Site	SNP	ENST00000168148.3	hg19	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.785439	0.31593	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3997	0.38424	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPP2	234643309	0.896000	0.30565	0.154000	0.22540	0.216000	0.24613	3.418000	0.52721	1.998000	0.58463	0.528000	0.53228	.	.	.		0.438	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	Intron
COL6A3	1293	hgsc.bcm.edu	37	2	238275483	238275483	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:238275483A>T	ENST00000295550.4	-	11	5799	c.5347T>A	c.(5347-5349)Tcg>Acg	p.S1783T	COL6A3_ENST00000346358.4_Missense_Mutation_p.S1583T|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1577T|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1582T|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1577T|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1176T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1783	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTCCTCCGAGTCGATATTC	0.562																																					p.S1783T		Atlas-SNP	.											.	COL6A3	608	.	0			c.T5347A						.						88.0	83.0	85.0					2																	238275483		2203	4300	6503	SO:0001583	missense	1293	exon11			CCTCCGAGTCGAT	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5347T>A	chr2.hg19:g.238275483A>T	ENSP00000295550:p.Ser1783Thr	199.0	0.0		129.0	54.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819972	0.50633	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.51	4.28	0.50868	von Willebrand factor, type A (3);	0.671285	0.12791	N	0.438878	T	0.77883	0.4197	N	0.25890	0.77	0.23496	N	0.997556	D;D;P	0.67145	0.996;0.984;0.6	P;P;B	0.60117	0.869;0.839;0.233	T	0.66866	-0.5815	10	0.15066	T	0.55	.	1.1162	0.01714	0.5101:0.1922:0.1139:0.1838	.	1176;1577;1783	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1783;1582;1577;1176;1577;1583	ENSP00000295550:S1783T;ENSP00000315609:S1582T;ENSP00000315873:S1577T;ENSP00000418285:S1176T;ENSP00000386844:S1577T;ENSP00000295546:S1583T	ENSP00000295550:S1783T	S	-	1	0	COL6A3	237940222	0.995000	0.38212	0.996000	0.52242	0.920000	0.55202	1.099000	0.31013	2.090000	0.63153	0.528000	0.53228	TCG	.	.		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CHL1	10752	hgsc.bcm.edu	37	3	369957	369957	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:369957A>T	ENST00000256509.2	+	5	947	c.305A>T	c.(304-306)cAc>cTc	p.H102L	CHL1_ENST00000397491.2_Missense_Mutation_p.H102L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACATATCTCACTTTCAAGGG	0.398																																					p.H102L		Atlas-SNP	.											.	CHL1	242	.	0			c.A305T						.						128.0	127.0	127.0					3																	369957		2203	4300	6503	SO:0001583	missense	10752	exon3			TATCTCACTTTCA	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.305A>T	chr3.hg19:g.369957A>T	ENSP00000256509:p.His102Leu	187.0	0.0		163.0	85.0	NM_001253388	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	hg19	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022577	0.54683	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.66815	1.11;1.11;-0.23	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188254	0.47093	D	0.000241	T	0.59115	0.2170	L	0.41906	1.305	0.33435	D	0.581675	B;B;P	0.38455	0.355;0.355;0.632	B;B;B	0.41946	0.371;0.371;0.291	T	0.70799	-0.4774	10	0.48119	T	0.1	.	8.7575	0.34654	0.914:0.0:0.086:0.0	.	102;102;102	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	102	ENSP00000256509:H102L;ENSP00000380628:H102L;ENSP00000397445:H102L	ENSP00000256509:H102L	H	+	2	0	CHL1	344957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.087000	0.57671	1.888000	0.54679	0.533000	0.62120	CAC	.	.		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN6	27255	hgsc.bcm.edu	37	3	1425084	1425084	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:1425084G>T	ENST00000446702.2	+	19	3136	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C	CNTN6_ENST00000539053.1_Missense_Mutation_p.G765C|CNTN6_ENST00000350110.2_Missense_Mutation_p.G837C			Q9UQ52	CNTN6_HUMAN	contactin 6	837	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGAGTGCTGGGCTATGAGGT	0.438																																					p.G837C		Atlas-SNP	.											.	CNTN6	245	.	0			c.G2509T						.						142.0	148.0	146.0					3																	1425084		2203	4300	6503	SO:0001583	missense	27255	exon19			GTGCTGGGCTATG	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2509G>T	chr3.hg19:g.1425084G>T	ENSP00000407822:p.Gly837Cys	52.0	0.0		42.0	24.0	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	hg19	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711164	0.89112	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.61742	0.08;0.08;0.08	5.74	5.74	0.90152	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.84338	0.5450	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88360	0.2987	10	0.87932	D	0	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	837	Q9UQ52	CNTN6_HUMAN	C	837;765;837	ENSP00000407822:G837C;ENSP00000442791:G765C;ENSP00000341882:G837C	ENSP00000341882:G837C	G	+	1	0	CNTN6	1400084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.111000	0.94308	2.728000	0.93425	0.585000	0.79938	GGC	.	.		0.438	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
ITPR1	3708	hgsc.bcm.edu	37	3	4699946	4699946	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:4699946G>T	ENST00000443694.2	+	10	1090	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	ITPR1_ENST00000302640.8_Missense_Mutation_p.D364Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.D364Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.D379Y|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D379Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.D379Y			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	379	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCGTGGAGGTGACAGCCTTGT	0.483																																					p.D379Y		Atlas-SNP	.											.	ITPR1	659	.	0			c.G1135T						.						103.0	101.0	102.0					3																	4699946		1941	4141	6082	SO:0001583	missense	3708	exon13			GGAGGTGACAGCC	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1090G>T	chr3.hg19:g.4699946G>T	ENSP00000401671:p.Asp364Tyr	100.0	0.0		80.0	39.0	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700238	0.88924	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.39	5.39	0.77823	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.97010	0.9735	10	0.87932	D	0	.	19.171	0.93578	0.0:0.0:1.0:0.0	.	364;379;379	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Y	379;364;379;379;379;364;364	ENSP00000306253:D364Y;ENSP00000346595:D379Y;ENSP00000405934:D379Y;ENSP00000349597:D379Y;ENSP00000397885:D364Y;ENSP00000401671:D364Y	ENSP00000306253:D364Y	D	+	1	0	ITPR1	4674946	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.725000	0.98778	2.525000	0.85131	0.655000	0.94253	GAC	.	.		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
SSUH2	51066	hgsc.bcm.edu	37	3	8661623	8661623	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:8661623A>T	ENST00000317371.4	-	19	2218	c.993T>A	c.(991-993)taT>taA	p.Y331*	SSUH2_ENST00000544814.1_Nonsense_Mutation_p.Y353*|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000341795.3_Nonsense_Mutation_p.Y331*			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	331						cytoplasm (GO:0005737)											GGTCAGTGCCATAGATGTAGT	0.507																																					p.Y353X		Atlas-SNP	.											.	.	.	.	0			c.T1059A						.						172.0	150.0	157.0					3																	8661623		2203	4300	6503	SO:0001587	stop_gained	51066	exon12			AGTGCCATAGATG	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.993T>A	chr3.hg19:g.8661623A>T	ENSP00000324551:p.Tyr331*	131.0	0.0		96.0	38.0	NM_001256748	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Nonsense_Mutation	SNP	ENST00000317371.4	hg19	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	A	46	12.689718	0.99688	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	.	.	.	5.07	-3.85	0.04243	.	0.078352	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1548	11.6546	0.51311	0.4307:0.0:0.5693:0.0	.	.	.	.	X	331;331;353	.	ENSP00000324551:Y331X	Y	-	3	2	C3orf32	8636623	0.169000	0.23002	0.964000	0.40570	0.908000	0.53690	-0.894000	0.04123	-0.656000	0.05380	0.383000	0.25322	TAT	.	.		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931	
SRGAP3	9901	hgsc.bcm.edu	37	3	9068619	9068619	+	Splice_Site	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:9068619C>T	ENST00000383836.3	-	13	2027	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	SRGAP3_ENST00000360413.3_Splice_Site_p.G510R|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	534	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGCTTACCATATAAATTG	0.428			T	RAF1	pilocytic astrocytoma																																p.G534R		Atlas-SNP	.		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	SRGAP3	146	.	0			c.G1600A						.						119.0	115.0	117.0					3																	9068619		2203	4300	6503	SO:0001630	splice_region_variant	9901	exon13			GCTTACCATATAA	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1600+1G>A	chr3.hg19:g.9068619C>T		87.0	0.0		67.0	26.0	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570746	0.86542	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.57752	0.38;1.36	5.17	5.17	0.71159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88189	0.2876	9	.	.	.	.	18.2773	0.90087	0.0:1.0:0.0:0.0	.	510;534	O43295-2;O43295	.;SRGP2_HUMAN	R	534;510	ENSP00000373347:G534R;ENSP00000353587:G510R	.	G	-	1	0	SRGAP3	9043619	1.000000	0.71417	0.962000	0.40283	0.670000	0.39368	7.576000	0.82467	2.413000	0.81919	0.655000	0.94253	GGA	.	.		0.428	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		Missense_Mutation
SRGAP3	9901	hgsc.bcm.edu	37	3	9068641	9068641	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:9068641G>C	ENST00000383836.3	-	13	2005	c.1578C>G	c.(1576-1578)tgC>tgG	p.C526W	SRGAP3_ENST00000360413.3_Missense_Mutation_p.C502W|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	526	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGTAACGGATGCAGCTCTCGA	0.423			T	RAF1	pilocytic astrocytoma																																p.C526W		Atlas-SNP	.		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	SRGAP3	146	.	0			c.C1578G						.						135.0	130.0	132.0					3																	9068641		2203	4300	6503	SO:0001583	missense	9901	exon13			ACGGATGCAGCTC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1578C>G	chr3.hg19:g.9068641G>C	ENSP00000373347:p.Cys526Trp	92.0	0.0		66.0	27.0	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133981	0.56828	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.26518	1.73;1.73	5.17	0.568	0.17333	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	H	0.97783	4.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.67921	-0.5545	10	0.87932	D	0	.	9.7146	0.40268	0.4258:0.0:0.5742:0.0	.	502;526	O43295-2;O43295	.;SRGP2_HUMAN	W	526;502	ENSP00000373347:C526W;ENSP00000353587:C502W	ENSP00000353587:C502W	C	-	3	2	SRGAP3	9043641	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.524000	0.22940	0.043000	0.15746	0.655000	0.94253	TGC	.	.		0.423	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
ATP2B2	491	hgsc.bcm.edu	37	3	10370618	10370618	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:10370618T>A	ENST00000352432.4	-	22	3681	c.3612A>T	c.(3610-3612)tcA>tcT	p.S1204S	ATP2B2_ENST00000383800.4_Silent_p.S1159S|ATP2B2_ENST00000397077.1_Silent_p.S1159S|ATP2B2_ENST00000343816.4_Silent_p.S1190S|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000360273.2_Silent_p.S1204S|ATP2B2_ENST00000467702.2_5'UTR			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1204					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGTTGAGGGATGACGGCGGGC	0.562																																					p.S1204S	Ovarian(125;1619 1709 15675 19819 38835)	Atlas-SNP	.											.	ATP2B2	304	.	0			c.A3612T						.						125.0	107.0	113.0					3																	10370618		2203	4300	6503	SO:0001819	synonymous_variant	491	exon23			GAGGGATGACGGC	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3612A>T	chr3.hg19:g.10370618T>A		139.0	0.0		98.0	46.0	NM_001001331	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	hg19	CCDS33701.1																																																																																			.	.		0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
C3orf20	84077	hgsc.bcm.edu	37	3	14813588	14813588	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:14813588T>C	ENST00000253697.3	+	16	2962	c.2510T>C	c.(2509-2511)gTc>gCc	p.V837A	C3orf20_ENST00000412910.1_Missense_Mutation_p.V715A|C3orf20_ENST00000435614.1_Missense_Mutation_p.V715A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	837						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCCAACTCTGTCCTGAGCCTG	0.582																																					p.V837A		Atlas-SNP	.											.	C3orf20	109	.	0			c.T2510C						.						90.0	84.0	86.0					3																	14813588		2203	4300	6503	SO:0001583	missense	84077	exon16			ACTCTGTCCTGAG	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2510T>C	chr3.hg19:g.14813588T>C	ENSP00000253697:p.Val837Ala	63.0	0.0		66.0	27.0	NM_032137	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	hg19	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	T	5.701	0.313838	0.10789	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10573	3.15;2.86;2.86	2.95	-1.1	0.09872	.	1.672600	0.03657	N	0.241938	T	0.07683	0.0193	N	0.19112	0.55	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.22601	0.04;0.04	T	0.38436	-0.9661	10	0.48119	T	0.1	-1.2274	4.1126	0.10065	0.0:0.1287:0.4321:0.4392	.	715;837	Q8ND61-2;Q8ND61	.;CC020_HUMAN	A	837;715;715	ENSP00000253697:V837A;ENSP00000402933:V715A;ENSP00000396081:V715A	ENSP00000253697:V837A	V	+	2	0	C3orf20	14788592	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.782000	0.00772	-0.205000	0.10219	-1.430000	0.01095	GTC	.	.		0.582	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
KCNH8	131096	hgsc.bcm.edu	37	3	19492664	19492664	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:19492664A>T	ENST00000328405.2	+	10	1859	c.1593A>T	c.(1591-1593)ccA>ccT	p.P531P	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	531					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAGACTTTCCAGATGAACTGC	0.453																																					p.P531P	NSCLC(124;1625 1765 8018 24930 42026)	Atlas-SNP	.											.	KCNH8	189	.	0			c.A1593T						.						148.0	151.0	150.0					3																	19492664		2203	4300	6503	SO:0001819	synonymous_variant	131096	exon10			CTTTCCAGATGAA	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1593A>T	chr3.hg19:g.19492664A>T		58.0	0.0		52.0	26.0	NM_144633	B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	hg19	CCDS2632.1																																																																																			.	.		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
EFHB	151651	hgsc.bcm.edu	37	3	19921298	19921298	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:19921298T>C	ENST00000295824.9	-	13	2490		c.e13-2		EFHB_ENST00000344838.4_Splice_Site	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B								calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTGCAATCTAGAAAAAGGC	0.279																																					.		Atlas-SNP	.											.	EFHB	186	.	0			c.2329-2A>G						.						99.0	98.0	98.0					3																	19921298		2203	4300	6503	SO:0001630	splice_region_variant	151651	exon14			GCAATCTAGAAAA	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2329-2A>G	chr3.hg19:g.19921298T>C		40.0	0.0		47.0	25.0	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Splice_Site	SNP	ENST00000295824.9	hg19	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	16.77	3.216178	0.58452	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4434	0.67333	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFHB	19896302	1.000000	0.71417	0.993000	0.49108	0.897000	0.52465	7.004000	0.76317	1.998000	0.58463	0.459000	0.35465	.	.	.		0.279	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	Intron
OXSM	54995	hgsc.bcm.edu	37	3	25833109	25833109	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:25833109G>T	ENST00000280701.3	+	2	697	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.G200C|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	200					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TAAACTCAAGGGCCCAAATCA	0.448																																					p.G200C		Atlas-SNP	.											.	OXSM	54	.	0			c.G598T						.						80.0	80.0	80.0					3																	25833109		2203	4300	6503	SO:0001583	missense	54995	exon2			CTCAAGGGCCCAA	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.598G>T	chr3.hg19:g.25833109G>T	ENSP00000280701:p.Gly200Cys	123.0	0.0		114.0	55.0	NM_017897		Missense_Mutation	SNP	ENST00000280701.3	hg19	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822229	0.90873	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93949	0.7230	9	0.87932	D	0	-14.5096	20.8598	0.99761	0.0:0.0:1.0:0.0	.	200;200	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	C	200	.	ENSP00000280701:G200C	G	+	1	0	OXSM	25808113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.937000	0.99478	0.650000	0.86243	GGC	.	.		0.448	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
GADL1	339896	hgsc.bcm.edu	37	3	30903131	30903131	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:30903131A>G	ENST00000282538.5	-	2	314	c.164T>C	c.(163-165)cTa>cCa	p.L55P	GADL1_ENST00000454381.3_Missense_Mutation_p.L55P	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	55					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTCCATTATTAGCCTACAGGC	0.398																																					p.L55P		Atlas-SNP	.											.	GADL1	91	.	0			c.T164C						.						173.0	141.0	151.0					3																	30903131		692	1591	2283	SO:0001583	missense	339896	exon2			ATTATTAGCCTAC	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.164T>C	chr3.hg19:g.30903131A>G	ENSP00000282538:p.Leu55Pro	117.0	0.0		129.0	70.0	NM_207359		Missense_Mutation	SNP	ENST00000282538.5	hg19	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994732	0.74703	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.39787	2.71;1.06	5.33	5.33	0.75918	Pyridoxal phosphate-dependent transferase, major domain (1);	.	.	.	.	T	0.39279	0.1072	N	0.19112	0.55	0.58432	D	0.999994	P	0.43352	0.804	P	0.48227	0.571	T	0.35500	-0.9786	9	0.56958	D	0.05	.	14.9431	0.71009	1.0:0.0:0.0:0.0	.	55	Q6ZQY3	GADL1_HUMAN	P	55	ENSP00000282538:L55P;ENSP00000427059:L55P	ENSP00000282538:L55P	L	-	2	0	GADL1	30878135	0.908000	0.30866	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.010000	0.58986	0.454000	0.30748	CTA	.	.		0.398	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	
CLASP2	23122	hgsc.bcm.edu	37	3	33552159	33552159	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:33552159T>C	ENST00000468888.2	-	37	4278	c.4232A>G	c.(4231-4233)gAc>gGc	p.D1411G	CLASP2_ENST00000307312.7_Missense_Mutation_p.D892G|CLASP2_ENST00000480013.1_Missense_Mutation_p.D1190G|CLASP2_ENST00000461133.3_Missense_Mutation_p.D1170G|CLASP2_ENST00000399362.4_Missense_Mutation_p.D1410G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D1402G|CLASP2_ENST00000539981.1_3'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1191					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AATTGGGTAGTCTGCAGTTTG	0.448																																					p.D1412G		Atlas-SNP	.											.	CLASP2	138	.	0			c.A4235G						.						141.0	124.0	129.0					3																	33552159		1921	4146	6067	SO:0001583	missense	23122	exon37			GGGTAGTCTGCAG	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4232A>G	chr3.hg19:g.33552159T>C	ENSP00000419974:p.Asp1411Gly	126.0	0.0		106.0	45.0	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	hg19		.	.	.	.	.	.	.	.	.	.	T	18.57	3.652145	0.67472	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.77955	0.4208	M	0.62723	1.935	0.58432	D	0.999999	D;P	0.63880	0.993;0.947	P;P	0.60886	0.879;0.88	T	0.79266	-0.1874	10	0.56958	D	0.05	-20.6838	16.2824	0.82697	0.0:0.0:0.0:1.0	.	1402;1410	F5H604;E7ERI8	.;.	G	1411;1410;1402;892;1190;1170	ENSP00000419974:D1411G;ENSP00000382297:D1410G;ENSP00000352581:D1402G;ENSP00000304743:D892G;ENSP00000417518:D1190G;ENSP00000419305:D1170G	ENSP00000304743:D892G	D	-	2	0	CLASP2	33527163	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.883000	0.69721	2.250000	0.74265	0.533000	0.62120	GAC	.	.		0.448	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
STAC	6769	hgsc.bcm.edu	37	3	36534678	36534678	+	Silent	SNP	T	T	C	rs199675015		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:36534678T>C	ENST00000273183.3	+	6	1023	c.723T>C	c.(721-723)aaT>aaC	p.N241N	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.N180N	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	241					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGGAAGCCAATGGGCCAGGAG	0.502																																					p.N241N		Atlas-SNP	.											.	STAC	78	.	0			c.T723C						.						108.0	109.0	109.0					3																	36534678		2203	4300	6503	SO:0001819	synonymous_variant	6769	exon6			AGCCAATGGGCCA	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.723T>C	chr3.hg19:g.36534678T>C		100.0	0.0		69.0	36.0	NM_003149	B2R8S8	Silent	SNP	ENST00000273183.3	hg19	CCDS2662.1																																																																																			.	T|0.999;C|0.001		0.502	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
TRANK1	9881	hgsc.bcm.edu	37	3	36897302	36897302	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:36897302T>A	ENST00000429976.2	-	12	4026	c.3779A>T	c.(3778-3780)gAg>gTg	p.E1260V	TRANK1_ENST00000428977.2_Missense_Mutation_p.E710V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E710V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1260							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTTATCCTCCTCACTGTA	0.488																																					p.E1260V		Atlas-SNP	.											.	TRANK1	398	.	0			c.A3779T						.						207.0	211.0	209.0					3																	36897302		2089	4218	6307	SO:0001583	missense	9881	exon12			TTATCCTCCTCAC	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3779A>T	chr3.hg19:g.36897302T>A	ENSP00000416168:p.Glu1260Val	181.0	0.0		176.0	84.0	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974303	0.53720	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.75;1.33	5.45	5.45	0.79879	.	0.096891	0.45126	D	0.000386	T	0.56688	0.2002	M	0.68593	2.085	0.47341	D	0.999392	D	0.71674	0.998	D	0.65874	0.939	T	0.55995	-0.8052	10	0.41790	T	0.15	.	15.8283	0.78730	0.0:0.0:0.0:1.0	.	1260	O15050	TRNK1_HUMAN	V	710;1260;710	ENSP00000416826:E710V;ENSP00000416168:E1260V;ENSP00000301807:E710V	ENSP00000301807:E710V	E	-	2	0	TRANK1	36872306	1.000000	0.71417	0.911000	0.35937	0.857000	0.48899	6.193000	0.72075	2.205000	0.71048	0.454000	0.30748	GAG	.	.		0.488	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
CCR8	1237	hgsc.bcm.edu	37	3	39374403	39374403	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:39374403G>T	ENST00000326306.4	+	2	719	c.581G>T	c.(580-582)tGg>tTg	p.W194L	CCR8_ENST00000545843.1_Missense_Mutation_p.W111L|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	194					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACTTTGAAGTGGAAGATCTTC	0.398																																					p.W194L		Atlas-SNP	.											.	CCR8	34	.	0			c.G581T						.						136.0	134.0	134.0					3																	39374403		2203	4300	6503	SO:0001583	missense	1237	exon2			TGAAGTGGAAGAT	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.581G>T	chr3.hg19:g.39374403G>T	ENSP00000326432:p.Trp194Leu	63.0	0.0		61.0	25.0	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	hg19	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113054	0.77210	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.35973	1.28;1.28	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.152547	0.47455	D	0.000237	T	0.57301	0.2044	M	0.77486	2.375	0.80722	D	1	P;P	0.52061	0.95;0.891	P;P	0.57548	0.823;0.773	T	0.63786	-0.6558	10	0.87932	D	0	.	16.5132	0.84292	0.0:0.0:1.0:0.0	.	194;111	P51685;Q3KNR3	CCR8_HUMAN;.	L	194;111	ENSP00000326432:W194L;ENSP00000440474:W111L	ENSP00000326432:W194L	W	+	2	0	CCR8	39349407	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.778000	0.62368	2.476000	0.83614	0.655000	0.94253	TGG	.	.		0.398	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
CCDC13	152206	hgsc.bcm.edu	37	3	42775068	42775068	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:42775068T>A	ENST00000310232.6	-	11	1488	c.1405A>T	c.(1405-1407)Agt>Tgt	p.S469C	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	469										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCGCGGCCACTGGACCCCTCA	0.602																																					p.S469C		Atlas-SNP	.											.	CCDC13	71	.	0			c.A1405T						.						60.0	65.0	63.0					3																	42775068		2203	4300	6503	SO:0001583	missense	152206	exon11			GGCCACTGGACCC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1405A>T	chr3.hg19:g.42775068T>A	ENSP00000309836:p.Ser469Cys	29.0	0.0		31.0	15.0	NM_144719		Missense_Mutation	SNP	ENST00000310232.6	hg19	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	T	4.619	0.115054	0.08831	.	.	ENSG00000244607	ENST00000310232	T	0.25912	1.77	4.8	-9.61	0.00550	.	1.064250	0.07142	N	0.847475	T	0.18551	0.0445	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28586	-1.0039	10	0.56958	D	0.05	.	4.3336	0.11075	0.2188:0.4806:0.1124:0.1882	.	469	Q8IYE1	CCD13_HUMAN	C	469	ENSP00000309836:S469C	ENSP00000309836:S469C	S	-	1	0	CCDC13	42750072	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.811000	0.01728	-2.541000	0.00485	-0.274000	0.10170	AGT	.	.		0.602	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
ZNF662	389114	hgsc.bcm.edu	37	3	42956611	42956611	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:42956611A>T	ENST00000541208.1	+	5	1415	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q375L|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.Q349L			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GATCTTTCTCAGCACCAGAGG	0.483																																					p.Q375L		Atlas-SNP	.											.	ZNF662	112	.	0			c.A1124T						.						85.0	82.0	83.0					3																	42956611		2203	4300	6503	SO:0001583	missense	389114	exon4			TTTCTCAGCACCA	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1046A>T	chr3.hg19:g.42956611A>T	ENSP00000446208:p.Gln349Leu	106.0	0.0		109.0	47.0	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	hg19	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.294167	0.23564	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.17854	2.25;2.25;2.25	3.27	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	L	0.28504	0.86	0.09310	N	1	B;P	0.34462	0.4;0.454	B;B	0.37780	0.167;0.258	T	0.25187	-1.0139	9	0.46703	T	0.11	.	4.9413	0.13967	0.7407:0.0:0.2593:0.0	.	375;349	F8W7S8;Q6ZS27	.;ZN662_HUMAN	L	349;375;349	ENSP00000405047:Q349L;ENSP00000329264:Q375L;ENSP00000446208:Q349L	ENSP00000329264:Q375L	Q	+	2	0	ZNF662	42931615	0.000000	0.05858	0.965000	0.40720	0.992000	0.81027	-0.721000	0.04963	0.476000	0.27440	0.528000	0.53228	CAG	.	.		0.483	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
POMGNT2	84892	hgsc.bcm.edu	37	3	43122344	43122344	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:43122344T>A	ENST00000344697.2	-	2	925	c.580A>T	c.(580-582)Atg>Ttg	p.M194L	POMGNT2_ENST00000441964.1_Missense_Mutation_p.M194L	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	194					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CAGCCCTCCATGAAGAAGAGC	0.642																																					p.M194L		Atlas-SNP	.											.	.	.	.	0			c.A580T						.						48.0	46.0	47.0					3																	43122344		2203	4300	6503	SO:0001583	missense	84892	exon2			CCTCCATGAAGAA	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.580A>T	chr3.hg19:g.43122344T>A	ENSP00000344125:p.Met194Leu	88.0	0.0		70.0	35.0	NM_032806	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	hg19	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.191965	0.58017	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.75589	-0.95;-0.95	5.88	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.71581	2.175	0.51233	D	0.999919	B	0.09022	0.002	B	0.16722	0.016	T	0.64525	-0.6387	10	0.23891	T	0.37	-16.3798	11.0314	0.47774	0.0:0.0721:0.0:0.9279	.	194	Q8NAT1	AGO61_HUMAN	L	194	ENSP00000408992:M194L;ENSP00000344125:M194L	ENSP00000344125:M194L	M	-	1	0	C3orf39	43097348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.139000	0.71728	1.057000	0.40506	0.533000	0.62120	ATG	.	.		0.642	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806	
SNRK	54861	hgsc.bcm.edu	37	3	43389366	43389366	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:43389366A>G	ENST00000296088.7	+	7	1919	c.1615A>G	c.(1615-1617)Agt>Ggt	p.S539G	SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.S539G|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000437827.1_Missense_Mutation_p.S333G|SNRK_ENST00000429705.2_Missense_Mutation_p.S539G	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CTCCAGCTGCAGTAGTTCGGA	0.557																																					p.S539G		Atlas-SNP	.											.	SNRK	118	.	0			c.A1615G						.						37.0	42.0	40.0					3																	43389366		1985	4164	6149	SO:0001583	missense	54861	exon7			AGCTGCAGTAGTT	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1615A>G	chr3.hg19:g.43389366A>G	ENSP00000296088:p.Ser539Gly	176.0	0.0		158.0	80.0	NM_017719		Missense_Mutation	SNP	ENST00000296088.7	hg19	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510214	0.64522	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.77489	-1.1;-1.1;-1.1;1.63	4.72	4.72	0.59763	.	0.099219	0.64402	D	0.000001	D	0.85647	0.5745	M	0.65498	2.005	0.58432	D	0.999996	D	0.58268	0.982	D	0.67548	0.952	D	0.86696	0.1926	10	0.54805	T	0.06	.	14.5039	0.67741	1.0:0.0:0.0:0.0	.	539	Q9NRH2	SNRK_HUMAN	G	539;539;539;333	ENSP00000401246:S539G;ENSP00000411375:S539G;ENSP00000296088:S539G;ENSP00000409516:S333G	ENSP00000296088:S539G	S	+	1	0	SNRK	43364370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.263000	0.65507	1.892000	0.54788	0.460000	0.39030	AGT	.	.		0.557	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
EXOSC7	23016	hgsc.bcm.edu	37	3	45046818	45046818	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:45046818G>C	ENST00000265564.7	+	6	575	c.527G>C	c.(526-528)gGg>gCg	p.G176A	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	176					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GATGAAGAGGGGTCGAAGGAC	0.428																																					p.G176A		Atlas-SNP	.											.	EXOSC7	19	.	0			c.G527C						.						258.0	227.0	237.0					3																	45046818		2203	4300	6503	SO:0001583	missense	23016	exon6			AAGAGGGGTCGAA	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.527G>C	chr3.hg19:g.45046818G>C	ENSP00000265564:p.Gly176Ala	132.0	0.0		114.0	47.0	NM_015004	Q96E72	Missense_Mutation	SNP	ENST00000265564.7	hg19	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220455	0.95139	.	.	ENSG00000075914	ENST00000265564	T	0.35789	1.29	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	M	0.86651	2.83	0.80722	D	1	P;P	0.40602	0.723;0.723	B;P	0.44946	0.41;0.465	T	0.57556	-0.7791	10	0.42905	T	0.14	-37.2534	20.4434	0.99119	0.0:0.0:1.0:0.0	.	176;176	B2RDZ9;Q15024	.;EXOS7_HUMAN	A	176	ENSP00000265564:G176A	ENSP00000265564:G176A	G	+	2	0	EXOSC7	45021822	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	9.623000	0.98386	2.838000	0.97847	0.655000	0.94253	GGG	.	.		0.428	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004	
FYCO1	79443	hgsc.bcm.edu	37	3	46011256	46011256	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:46011256T>C	ENST00000296137.2	-	7	746	c.541A>G	c.(541-543)Agg>Ggg	p.R181G	FYCO1_ENST00000535325.1_Splice_Site_p.R181G	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	181					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTCAGCGTCCTCCTGTGGGGC	0.577																																					p.R181G		Atlas-SNP	.											.	FYCO1	115	.	0			c.A541G						.						61.0	53.0	56.0					3																	46011256		2203	4300	6503	SO:0001630	splice_region_variant	79443	exon7			GCGTCCTCCTGTG	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.540-1A>G	chr3.hg19:g.46011256T>C		57.0	0.0		34.0	17.0	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	hg19	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757179	0.69648	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.26067	1.78;1.76	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	M	0.71581	2.175	0.58432	D	0.999999	P;P	0.45283	0.819;0.855	B;P	0.44394	0.322;0.448	T	0.28396	-1.0045	10	0.87932	D	0	-21.6977	14.4389	0.67301	0.0:0.0:0.0:1.0	.	181;181	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	G	181	ENSP00000296137:R181G;ENSP00000441178:R181G	ENSP00000296137:R181G	R	-	1	2	FYCO1	45986260	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	5.834000	0.69361	2.207000	0.71202	0.533000	0.62120	AGG	.	.		0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	Missense_Mutation
SMARCC1	6599	hgsc.bcm.edu	37	3	47651729	47651729	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:47651729T>C	ENST00000254480.5	-	26	2989	c.2870A>G	c.(2869-2871)cAa>cGa	p.Q957R	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	957					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTGTTCCATTTGCTGTCGTGC	0.547																																					p.Q957R		Atlas-SNP	.											.	SMARCC1	85	.	0			c.A2870G						.						304.0	267.0	280.0					3																	47651729		2203	4300	6503	SO:0001583	missense	6599	exon26			TCCATTTGCTGTC	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2870A>G	chr3.hg19:g.47651729T>C	ENSP00000254480:p.Gln957Arg	64.0	0.0		65.0	31.0	NM_003074	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	hg19	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571265	0.45798	.	.	ENSG00000173473	ENST00000254480	T	0.23147	1.92	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.57536	1.79	0.58432	D	0.999995	P	0.52842	0.956	P	0.47528	0.549	T	0.14035	-1.0487	10	0.72032	D	0.01	-22.1753	15.4228	0.75025	0.0:0.0:0.0:1.0	.	957	Q92922	SMRC1_HUMAN	R	957	ENSP00000254480:Q957R	ENSP00000254480:Q957R	Q	-	2	0	SMARCC1	47626733	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	8.004000	0.88535	2.229000	0.72834	0.533000	0.62120	CAA	.	.		0.547	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
MST1R	4486	hgsc.bcm.edu	37	3	49924915	49924915	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:49924915T>A	ENST00000296474.3	-	20	4055	c.4028A>T	c.(4027-4029)cAg>cTg	p.Q1343L	MST1R_ENST00000344206.4_Missense_Mutation_p.Q1294L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGACACTATCTGCTCCACCTC	0.562																																					p.Q1343L		Atlas-SNP	.											.	MST1R	205	.	0			c.A4028T						.						97.0	87.0	90.0					3																	49924915		2203	4300	6503	SO:0001583	missense	4486	exon20			ACTATCTGCTCCA	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4028A>T	chr3.hg19:g.49924915T>A	ENSP00000296474:p.Gln1343Leu	123.0	0.0		90.0	38.0	NM_002447	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	hg19	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	T	1.281	-0.610454	0.03690	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.30182	1.54;1.54	5.91	-3.85	0.04243	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.571660	0.03232	N	0.179072	T	0.21841	0.0526	L	0.41961	1.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09465	-1.0673	10	0.25751	T	0.34	0.1653	2.7135	0.05181	0.0941:0.3794:0.1893:0.3372	.	1343	Q04912	RON_HUMAN	L	1343;1294	ENSP00000296474:Q1343L;ENSP00000341325:Q1294L	ENSP00000296474:Q1343L	Q	-	2	0	MST1R	49899919	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-0.836000	0.04382	-1.186000	0.02713	-0.250000	0.11733	CAG	.	.		0.562	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		
HEMK1	51409	hgsc.bcm.edu	37	3	50615001	50615001	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:50615001A>T	ENST00000232854.4	+	6	1163	c.611A>T	c.(610-612)cAg>cTg	p.Q204L	HEMK1_ENST00000434410.1_Missense_Mutation_p.Q204L|HEMK1_ENST00000455834.1_Missense_Mutation_p.Q204L	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	204					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GAGAATGCTCAGAGGTAGGTG	0.488																																					p.Q204L		Atlas-SNP	.											.	HEMK1	17	.	0			c.A611T						.						82.0	83.0	83.0					3																	50615001		2203	4300	6503	SO:0001583	missense	51409	exon6			ATGCTCAGAGGTA	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.611A>T	chr3.hg19:g.50615001A>T	ENSP00000232854:p.Gln204Leu	120.0	0.0		88.0	41.0	NM_016173		Missense_Mutation	SNP	ENST00000232854.4	hg19	CCDS2830.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562192	0.45590	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834;ENST00000443894	T;T;T;T	0.64085	2.56;2.56;2.56;-0.08	5.04	5.04	0.67666	Methyltransferase small (1);	0.553031	0.18635	N	0.135465	T	0.51109	0.1655	L	0.33093	0.98	0.34642	D	0.720709	B	0.18310	0.027	B	0.21546	0.035	T	0.59059	-0.7525	10	0.41790	T	0.15	-10.2583	11.089	0.48104	1.0:0.0:0.0:0.0	.	204	Q9Y5R4	HEMK1_HUMAN	L	204;204;204;42	ENSP00000404843:Q204L;ENSP00000232854:Q204L;ENSP00000404334:Q204L;ENSP00000404168:Q42L	ENSP00000232854:Q204L	Q	+	2	0	HEMK1	50590005	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.484000	0.53201	2.133000	0.65898	0.533000	0.62120	CAG	.	.		0.488	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173	
SEMA3G	56920	hgsc.bcm.edu	37	3	52471561	52471561	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:52471561C>A	ENST00000231721.2	-	15	1859	c.1860G>T	c.(1858-1860)ggG>ggT	p.G620G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	620	Ig-like C2-type.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCCCCTCATCCCCTGGCCTCT	0.632																																					p.G620G		Atlas-SNP	.											.	SEMA3G	58	.	0			c.G1860T						.						35.0	37.0	36.0					3																	52471561		2203	4300	6503	SO:0001819	synonymous_variant	56920	exon15			CTCATCCCCTGGC		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1860G>T	chr3.hg19:g.52471561C>A		149.0	0.0		131.0	69.0	NM_020163	Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	hg19	CCDS2856.1																																																																																			.	.		0.632	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
SEMA3G	56920	hgsc.bcm.edu	37	3	52474434	52474434	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:52474434C>A	ENST00000231721.2	-	10	1101	c.1102G>T	c.(1102-1104)Ggg>Tgg	p.G368W		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	368	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCATAGGGCCCCCACTGGTGC	0.652																																					p.G368W		Atlas-SNP	.											.	SEMA3G	58	.	0			c.G1102T						.						26.0	27.0	27.0					3																	52474434		2202	4299	6501	SO:0001583	missense	56920	exon10			AGGGCCCCCACTG		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1102G>T	chr3.hg19:g.52474434C>A	ENSP00000231721:p.Gly368Trp	51.0	0.0		44.0	17.0	NM_020163	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	hg19	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668520	0.47677	.	.	ENSG00000010319	ENST00000231721	T	0.11063	2.81	4.91	3.13	0.36017	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.128288	0.52532	D	0.000069	T	0.19967	0.0480	L	0.49350	1.555	0.52501	D	0.999958	D	0.56035	0.974	P	0.61275	0.886	T	0.00647	-1.1628	10	0.56958	D	0.05	.	7.0634	0.25139	0.1389:0.7115:0.0:0.1495	.	368	Q9NS98	SEM3G_HUMAN	W	368	ENSP00000231721:G368W	ENSP00000231721:G368W	G	-	1	0	SEMA3G	52449474	0.931000	0.31567	0.998000	0.56505	0.362000	0.29581	2.003000	0.40844	0.676000	0.31285	-0.254000	0.11334	GGG	.	.		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
STAB1	23166	hgsc.bcm.edu	37	3	52538054	52538054	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:52538054A>T	ENST00000321725.6	+	10	1109	c.1033A>T	c.(1033-1035)Agg>Tgg	p.R345W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	345					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGTGTGTGCAGGGAAAGCGA	0.701																																					p.R345W		Atlas-SNP	.											.	STAB1	178	.	0			c.A1033T						.						23.0	19.0	20.0					3																	52538054		2191	4293	6484	SO:0001583	missense	23166	exon10			GTGTGCAGGGAAA	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1033A>T	chr3.hg19:g.52538054A>T	ENSP00000312946:p.Arg345Trp	56.0	0.0		52.0	27.0	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007880	0.54361	.	.	ENSG00000010327	ENST00000321725	T	0.08720	3.06	4.7	4.7	0.59300	FAS1 domain (1);	0.207467	0.41500	D	0.000873	T	0.16938	0.0407	L	0.56280	1.765	0.25588	N	0.986727	P;D	0.60575	0.929;0.988	P;P	0.55011	0.573;0.766	T	0.02950	-1.1090	10	0.72032	D	0.01	.	10.8535	0.46784	1.0:0.0:0.0:0.0	.	345;345	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	W	345	ENSP00000312946:R345W	ENSP00000312946:R345W	R	+	1	2	STAB1	52513094	1.000000	0.71417	0.977000	0.42913	0.231000	0.25187	3.035000	0.49759	1.886000	0.54624	0.379000	0.24179	AGG	.	.		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
ITIH4	3700	hgsc.bcm.edu	37	3	52860032	52860032	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:52860032T>A	ENST00000266041.4	-	6	727		c.e6-2		RP5-966M1.6_ENST00000468472.1_Splice_Site|ITIH4_ENST00000485816.1_Splice_Site|ITIH4_ENST00000346281.5_Splice_Site|ITIH4_ENST00000434759.3_Splice_Site|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Splice_Site	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GATGTGAGCCTGGAGGAATAA	0.517																																					.		Atlas-SNP	.											.	ITIH4	74	.	0			c.631-2A>T						.						108.0	91.0	97.0					3																	52860032		2203	4300	6503	SO:0001630	splice_region_variant	3700	exon7			TGAGCCTGGAGGA	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.631-2A>T	chr3.hg19:g.52860032T>A		73.0	0.0		51.0	17.0	NM_002218	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Splice_Site	SNP	ENST00000266041.4	hg19	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864631	0.51482	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITIH4	52835072	1.000000	0.71417	0.977000	0.42913	0.469000	0.32828	7.005000	0.76323	1.877000	0.54381	0.459000	0.35465	.	.	.		0.517	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	Intron
CADPS	8618	hgsc.bcm.edu	37	3	62631427	62631427	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:62631427T>C	ENST00000383710.4	-	6	1644	c.1295A>G	c.(1294-1296)cAg>cGg	p.Q432R	CADPS_ENST00000283269.9_Missense_Mutation_p.Q432R|CADPS_ENST00000357948.3_Missense_Mutation_p.Q432R|CADPS_ENST00000490353.2_Missense_Mutation_p.Q432R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	432	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGATCAGTCTGTAGTTTCTC	0.453																																					p.Q432R		Atlas-SNP	.											.	CADPS	387	.	0			c.A1295G						.						225.0	211.0	216.0					3																	62631427		2203	4300	6503	SO:0001583	missense	8618	exon6			TCAGTCTGTAGTT	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1295A>G	chr3.hg19:g.62631427T>C	ENSP00000373215:p.Gln432Arg	102.0	0.0		86.0	31.0	NM_003716	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	hg19	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575348	0.65878	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.68624	-0.34;-0.34;-0.34;0.71	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.77725	0.4173	L	0.58428	1.81	0.80722	D	1	D;P;P	0.63880	0.993;0.908;0.791	D;D;B	0.65573	0.936;0.922;0.272	T	0.77446	-0.2585	10	0.42905	T	0.14	.	15.7937	0.78388	0.0:0.0:0.0:1.0	.	432;432;432	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	R	432	ENSP00000373215:Q432R;ENSP00000350632:Q432R;ENSP00000283269:Q432R;ENSP00000418736:Q432R	ENSP00000283269:Q432R	Q	-	2	0	CADPS	62606467	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	CAG	.	.		0.453	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
PRICKLE2	166336	hgsc.bcm.edu	37	3	64148718	64148718	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:64148718G>T	ENST00000295902.6	-	3	817	c.232C>A	c.(232-234)Cac>Aac	p.H78N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.H134N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	78	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCAGCTGGTGTAGTAGCTGC	0.458																																					p.H78N		Atlas-SNP	.											.	PRICKLE2	88	.	0			c.C232A						.						217.0	207.0	211.0					3																	64148718		2203	4300	6503	SO:0001583	missense	166336	exon3			GCTGGTGTAGTAG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.232C>A	chr3.hg19:g.64148718G>T	ENSP00000295902:p.His78Asn	68.0	0.0		68.0	25.0	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	hg19	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508951	0.64410	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.85955	-2.05;-2.05	5.77	5.77	0.91146	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.82056	2.57	0.80722	D	1	B	0.18461	0.028	B	0.27608	0.081	D	0.84809	0.0789	10	0.66056	D	0.02	-47.1007	19.9928	0.97374	0.0:0.0:1.0:0.0	.	78	Q7Z3G6	PRIC2_HUMAN	N	78	ENSP00000295902:H78N;ENSP00000419951:H78N	ENSP00000295902:H78N	H	-	1	0	PRICKLE2	64123758	1.000000	0.71417	0.969000	0.41365	0.848000	0.48234	6.756000	0.74919	2.745000	0.94114	0.650000	0.86243	CAC	.	.		0.458	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
KBTBD8	84541	hgsc.bcm.edu	37	3	67054509	67054509	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:67054509A>T	ENST00000417314.2	+	3	1167	c.1118A>T	c.(1117-1119)aAa>aTa	p.K373I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.K347I|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	373						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGGCTATCCAAACCATCCTTG	0.463																																					p.K373I		Atlas-SNP	.											.	KBTBD8	101	.	0			c.A1118T						.						133.0	124.0	127.0					3																	67054509		2203	4300	6503	SO:0001583	missense	84541	exon3			TATCCAAACCATC	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1118A>T	chr3.hg19:g.67054509A>T	ENSP00000401878:p.Lys373Ile	104.0	0.0		90.0	48.0	NM_032505	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	hg19	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295322	0.40594	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	T;T	0.76709	-1.04;-1.04	5.36	5.36	0.76844	Kelch-type beta propeller (1);	0.088685	0.64402	D	0.000001	T	0.77980	0.4212	L	0.48642	1.525	0.39783	D	0.972325	P	0.48998	0.918	P	0.49140	0.601	T	0.78516	-0.2174	9	.	.	.	.	15.6426	0.77016	1.0:0.0:0.0:0.0	.	373	Q8NFY9	KBTB8_HUMAN	I	347;373	ENSP00000295568:K347I;ENSP00000401878:K373I	.	K	+	2	0	KBTBD8	67137199	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.840000	0.62817	2.161000	0.67846	0.455000	0.32223	AAA	.	.		0.463	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
ROBO2	6092	hgsc.bcm.edu	37	3	77595492	77595492	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:77595492C>T	ENST00000461745.1	+	7	1838	c.938C>T	c.(937-939)cCc>cTc	p.P313L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P313L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P329L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	313					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTATAGCTCCCCCACAGTTT	0.388																																					p.P313L		Atlas-SNP	.											.	ROBO2	527	.	0			c.C938T						.						118.0	113.0	115.0					3																	77595492		1815	4070	5885	SO:0001583	missense	6092	exon7			TAGCTCCCCCACA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.938C>T	chr3.hg19:g.77595492C>T	ENSP00000417164:p.Pro313Leu	51.0	0.0		58.0	22.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933914	0.92458	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.76578	-1.03;-1.03;-1.03	5.66	5.66	0.87406	Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000340	D	0.85737	0.5766	M	0.69523	2.12	0.47476	D	0.999433	D	0.57899	0.981	P	0.56127	0.792	D	0.86872	0.2036	9	0.87932	D	0	.	19.7452	0.96250	0.0:1.0:0.0:0.0	.	313	Q9HCK4	ROBO2_HUMAN	L	329;329;333;313;313;34	ENSP00000417335:P329L;ENSP00000417164:P313L;ENSP00000327536:P313L	ENSP00000327536:P313L	P	+	2	0	ROBO2	77678182	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.818000	0.86416	2.672000	0.90937	0.591000	0.81541	CCC	.	.		0.388	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
CADM2	253559	hgsc.bcm.edu	37	3	85961527	85961527	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:85961527A>T	ENST00000407528.2	+	5	569	c.507A>T	c.(505-507)gtA>gtT	p.V169V	CADM2_ENST00000405615.2_Silent_p.V171V|CADM2_ENST00000383699.3_Silent_p.V178V	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	169	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTCAGATGTAAAATATTTAA	0.363																																					p.V178V		Atlas-SNP	.											.	CADM2	195	.	0			c.A534T						.						29.0	29.0	29.0					3																	85961527		2203	4300	6503	SO:0001819	synonymous_variant	253559	exon6			AGATGTAAAATAT	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.507A>T	chr3.hg19:g.85961527A>T		224.0	0.0		254.0	118.0	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	hg19	CCDS54614.1																																																																																			.	.		0.363	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
ARL13B	200894	hgsc.bcm.edu	37	3	93754239	93754239	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:93754239C>G	ENST00000394222.3	+	4	720	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.L42V|ARL13B_ENST00000535334.1_Missense_Mutation_p.L46V|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.L149V	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	149					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ATGTCTATCTCTGGAAAAATT	0.299																																					p.L149V		Atlas-SNP	.											.	ARL13B	52	.	0			c.C445G						.						115.0	125.0	122.0					3																	93754239		2203	4299	6502	SO:0001583	missense	200894	exon4			CTATCTCTGGAAA	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.445C>G	chr3.hg19:g.93754239C>G	ENSP00000377769:p.Leu149Val	153.0	0.0		156.0	67.0	NM_182896	D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	hg19	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442950	0.63067	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	T;T;T;T	0.78707	-0.45;-1.2;-0.45;-0.45	5.78	2.04	0.26737	.	0.000000	0.64402	D	0.000001	D	0.86347	0.5911	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.98;0.999;0.98	D	0.83501	0.0075	10	0.41790	T	0.15	-18.1108	10.0905	0.42445	0.0:0.7319:0.0:0.2681	.	149;42;149	B4DLH1;Q3SXY8-2;Q3SXY8	.;.;AR13B_HUMAN	V	46;42;149;149	ENSP00000445145:L46V;ENSP00000306225:L42V;ENSP00000377769:L149V;ENSP00000420780:L149V	ENSP00000306225:L42V	L	+	1	2	ARL13B	95236929	0.475000	0.25894	0.990000	0.47175	0.983000	0.72400	0.729000	0.26028	0.094000	0.17404	-0.136000	0.14681	CTG	.	.		0.299	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896	
IMPG2	50939	hgsc.bcm.edu	37	3	100964730	100964730	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:100964730G>A	ENST00000193391.7	-	12	1646	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	487					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GTGACAGAATGAAGAGTCAAG	0.478																																					p.H487Y		Atlas-SNP	.											.	IMPG2	164	.	0			c.C1459T						.						107.0	110.0	109.0					3																	100964730		2203	4300	6503	SO:0001583	missense	50939	exon12			CAGAATGAAGAGT	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1459C>T	chr3.hg19:g.100964730G>A	ENSP00000193391:p.His487Tyr	112.0	0.0		125.0	59.0	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	hg19	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995495	0.54147	.	.	ENSG00000081148	ENST00000193391	T	0.25250	1.81	6.03	4.22	0.49857	.	0.636801	0.15785	N	0.244731	T	0.16642	0.0400	N	0.19112	0.55	0.26251	N	0.978726	B;B	0.21381	0.055;0.014	B;B	0.12837	0.008;0.005	T	0.12400	-1.0549	10	0.48119	T	0.1	-2.001	9.9852	0.41837	0.0695:0.2615:0.669:0.0	.	487;487	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	Y	487	ENSP00000193391:H487Y	ENSP00000193391:H487Y	H	-	1	0	IMPG2	102447420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.919000	0.40015	1.547000	0.49401	0.655000	0.94253	CAT	.	.		0.478	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
MYH15	22989	hgsc.bcm.edu	37	3	108149731	108149731	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:108149731T>C	ENST00000273353.3	-	27	3376	c.3320A>G	c.(3319-3321)gAg>gGg	p.E1107G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1107						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTCATTCTCCACTTTTGA	0.313																																					p.E1107G		Atlas-SNP	.											.	MYH15	223	.	0			c.A3320G						.						97.0	89.0	91.0					3																	108149731		1816	4084	5900	SO:0001583	missense	22989	exon27			TCATTCTCCACTT	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3320A>G	chr3.hg19:g.108149731T>C	ENSP00000273353:p.Glu1107Gly	52.0	0.0		44.0	14.0	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	hg19	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916120	0.52546	.	.	ENSG00000144821	ENST00000273353	D	0.81908	-1.55	5.22	-1.98	0.07480	Myosin tail (1);	.	.	.	.	D	0.89729	0.6799	M	0.90425	3.115	0.33508	D	0.590751	D	0.89917	1.0	D	0.97110	1.0	D	0.86825	0.2007	9	0.87932	D	0	.	4.9162	0.13847	0.1016:0.0644:0.2943:0.5397	.	1107	Q9Y2K3	MYH15_HUMAN	G	1107	ENSP00000273353:E1107G	ENSP00000273353:E1107G	E	-	2	0	MYH15	109632421	1.000000	0.71417	0.000000	0.03702	0.467000	0.32768	3.162000	0.50755	-0.218000	0.10018	0.455000	0.32223	GAG	.	.		0.313	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
DZIP3	9666	hgsc.bcm.edu	37	3	108396342	108396342	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:108396342A>T	ENST00000361582.3	+	26	3011		c.e26-1		DZIP3_ENST00000463306.1_Splice_Site	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3						protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTCTTCTACCAGACACAGTAC	0.388																																					.		Atlas-SNP	.											.	DZIP3	111	.	0			c.2782-2A>T						.						183.0	184.0	183.0					3																	108396342		2203	4300	6503	SO:0001630	splice_region_variant	9666	exon26			TCTACCAGACACA	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2782-1A>T	chr3.hg19:g.108396342A>T		248.0	1.0		207.0	95.0	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Splice_Site	SNP	ENST00000361582.3	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725941	0.69074	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9398	0.47266	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DZIP3	109879032	0.992000	0.36948	0.934000	0.37439	0.966000	0.64601	4.007000	0.57093	2.145000	0.66743	0.460000	0.39030	.	.	.		0.388	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	Intron
DZIP3	9666	hgsc.bcm.edu	37	3	108396438	108396438	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:108396438A>T	ENST00000361582.3	+	26	3106	c.2876A>T	c.(2875-2877)gAg>gTg	p.E959V	DZIP3_ENST00000463306.1_Missense_Mutation_p.E959V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	959					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCCAGTCCTGAGATACTGGTA	0.403																																					p.E959V		Atlas-SNP	.											.	DZIP3	111	.	0			c.A2876T						.						149.0	144.0	146.0					3																	108396438		2203	4300	6503	SO:0001583	missense	9666	exon26			GTCCTGAGATACT	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2876A>T	chr3.hg19:g.108396438A>T	ENSP00000355028:p.Glu959Val	291.0	0.0		194.0	88.0	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002208	0.74932	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.20200	2.09;2.09	4.81	4.81	0.61882	.	0.367160	0.23465	N	0.047895	T	0.30293	0.0760	L	0.44542	1.39	0.33057	D	0.533573	D;D	0.65815	0.995;0.985	P;P	0.56278	0.795;0.541	T	0.39683	-0.9602	10	0.54805	T	0.06	-3.449	10.9398	0.47266	1.0:0.0:0.0:0.0	.	577;959	D3DN61;Q86Y13	.;DZIP3_HUMAN	V	959	ENSP00000355028:E959V;ENSP00000419981:E959V	ENSP00000355028:E959V	E	+	2	0	DZIP3	109879128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.007000	0.57093	2.145000	0.66743	0.460000	0.39030	GAG	.	.		0.403	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
TRAT1	50852	hgsc.bcm.edu	37	3	108572586	108572586	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:108572586T>G	ENST00000295756.6	+	6	653	c.423T>G	c.(421-423)caT>caG	p.H141Q	TRAT1_ENST00000426646.1_Missense_Mutation_p.H104Q	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	141					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCAACTACATGCAATAGATG	0.463																																					p.H141Q		Atlas-SNP	.											.	TRAT1	48	.	0			c.T423G						.						107.0	96.0	100.0					3																	108572586		2203	4300	6503	SO:0001583	missense	50852	exon6			ACTACATGCAATA	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.423T>G	chr3.hg19:g.108572586T>G	ENSP00000295756:p.His141Gln	384.0	0.0		328.0	165.0	NM_016388	Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	hg19	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364422	0.24684	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.34275	1.37;1.56	5.53	-2.98	0.05513	.	1.154570	0.06272	N	0.695795	T	0.25754	0.0627	L	0.47716	1.5	0.09310	N	1	B;B	0.16396	0.017;0.007	B;B	0.17433	0.018;0.015	T	0.27905	-1.0060	10	0.34782	T	0.22	-0.3621	1.8337	0.03135	0.1481:0.3672:0.1528:0.3319	.	104;141	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	Q	141;104	ENSP00000295756:H141Q;ENSP00000410097:H104Q	ENSP00000295756:H141Q	H	+	3	2	TRAT1	110055276	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.029000	0.12329	-0.513000	0.06496	0.533000	0.62120	CAT	.	.		0.463	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
SLC9C1	285335	hgsc.bcm.edu	37	3	111888053	111888053	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:111888053T>C	ENST00000305815.5	-	24	3294	c.3042A>G	c.(3040-3042)ttA>ttG	p.L1014L	SLC9C1_ENST00000487372.1_Silent_p.L966L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1014					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTCATAAGATAAGTGTTCTC	0.323																																					p.L1014L		Atlas-SNP	.											.	.	.	.	0			c.A3042G						.						102.0	99.0	100.0					3																	111888053		2203	4300	6503	SO:0001819	synonymous_variant	285335	exon24			ATAAGATAAGTGT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3042A>G	chr3.hg19:g.111888053T>C		68.0	0.0		75.0	28.0	NM_183061	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	hg19	CCDS33817.1																																																																																			.	.		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
CCDC80	151887	hgsc.bcm.edu	37	3	112357721	112357721	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:112357721A>T	ENST00000206423.3	-	2	1985	c.1032T>A	c.(1030-1032)ccT>ccA	p.P344P	CCDC80_ENST00000439685.2_Silent_p.P344P|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	344					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGTTGAGGGAGGTTGGGGCA	0.602																																					p.P344P		Atlas-SNP	.											.	CCDC80	100	.	0			c.T1032A						.						77.0	74.0	75.0					3																	112357721		2203	4300	6503	SO:0001819	synonymous_variant	151887	exon2			TGAGGGAGGTTGG	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1032T>A	chr3.hg19:g.112357721A>T		45.0	0.0		29.0	9.0	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	hg19	CCDS2968.1																																																																																			.	.		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CFAP44	55779	hgsc.bcm.edu	37	3	113092276	113092276	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:113092276A>G	ENST00000295868.2	-	18	2588	c.2426T>C	c.(2425-2427)aTc>aCc	p.I809T	WDR52_ENST00000393845.2_Missense_Mutation_p.I809T	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GATAGTTTGGATGGGATTGTC	0.368																																					p.I809T		Atlas-SNP	.											.	WDR52	151	.	0			c.T2426C						.						145.0	136.0	139.0					3																	113092276		2203	4300	6503	SO:0001583	missense	55779	exon18			GTTTGGATGGGAT																												ENST00000295868.2:c.2426T>C	chr3.hg19:g.113092276A>G	ENSP00000295868:p.Ile809Thr	79.0	0.0		90.0	37.0	NM_001164496		Missense_Mutation	SNP	ENST00000295868.2	hg19	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800865	0.50315	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.22743	1.94;1.94	5.39	5.39	0.77823	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.27765	0.0683	M	0.62723	1.935	0.80722	D	1	D	0.53619	0.961	P	0.44597	0.454	T	0.06679	-1.0813	9	0.87932	D	0	.	13.9334	0.64010	1.0:0.0:0.0:0.0	.	809	Q96MT7	WDR52_HUMAN	T	809	ENSP00000377428:I809T;ENSP00000295868:I809T	ENSP00000295868:I809T	I	-	2	0	WDR52	114574966	0.999000	0.42202	0.386000	0.26170	0.237000	0.25408	7.044000	0.76578	2.180000	0.69256	0.533000	0.62120	ATC	.	.		0.368	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
ATP6V1A	523	hgsc.bcm.edu	37	3	113524316	113524316	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:113524316A>G	ENST00000273398.3	+	14	1813	c.1705A>G	c.(1705-1707)Att>Gtt	p.I569V	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Missense_Mutation_p.I536V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	569					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CACATGGTCCATTATTCGTGA	0.383																																					p.I569V		Atlas-SNP	.											.	ATP6V1A	71	.	0			c.A1705G						.						126.0	116.0	120.0					3																	113524316		2203	4300	6503	SO:0001583	missense	523	exon14			TGGTCCATTATTC	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1705A>G	chr3.hg19:g.113524316A>G	ENSP00000273398:p.Ile569Val	182.0	0.0		176.0	74.0	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	hg19	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005034	0.35415	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;T	0.85339	-1.97;-1.19	5.96	3.62	0.41486	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.236343	0.49916	D	0.000139	T	0.70245	0.3202	N	0.12637	0.245	0.42169	D	0.991638	B	0.02656	0.0	B	0.04013	0.001	T	0.62723	-0.6794	10	0.27785	T	0.31	-5.6535	9.9765	0.41786	0.8644:0.0:0.1356:0.0	.	569	P38606	VATA_HUMAN	V	286;569;536	ENSP00000273398:I569V;ENSP00000439874:I536V	ENSP00000273398:I569V	I	+	1	0	ATP6V1A	115007006	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.284000	0.72652	1.081000	0.41110	0.533000	0.62120	ATT	.	.		0.383	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
ARHGAP31	57514	hgsc.bcm.edu	37	3	119133814	119133814	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:119133814T>A	ENST00000264245.4	+	12	3570	c.3038T>A	c.(3037-3039)cTg>cAg	p.L1013Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1013					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCTCTGGCCTGAAAGGGGCA	0.567																																					p.L1013Q	Pancreas(7;176 297 5394 51128 51241)	Atlas-SNP	.											.	ARHGAP31	175	.	0			c.T3038A						.						47.0	52.0	50.0					3																	119133814		1925	4141	6066	SO:0001583	missense	57514	exon12			CTGGCCTGAAAGG		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3038T>A	chr3.hg19:g.119133814T>A	ENSP00000264245:p.Leu1013Gln	65.0	0.0		65.0	23.0	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	hg19	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	8.950	0.968067	0.18659	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08458	3.09	4.83	0.567	0.17325	.	0.663208	0.13049	N	0.417886	T	0.04998	0.0134	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37291	-0.9712	10	0.48119	T	0.1	.	3.3306	0.07083	0.4459:0.2839:0.0:0.2702	.	1013	Q2M1Z3	RHG31_HUMAN	Q	1013	ENSP00000264245:L1013Q	ENSP00000264245:L1013Q	L	+	2	0	ARHGAP31	120616504	0.000000	0.05858	0.855000	0.33649	0.919000	0.55068	-0.498000	0.06420	0.197000	0.20387	0.459000	0.35465	CTG	.	.		0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
GPR156	165829	hgsc.bcm.edu	37	3	119886437	119886437	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:119886437A>T	ENST00000464295.1	-	10	2332	c.1887T>A	c.(1885-1887)ccT>ccA	p.P629P	GPR156_ENST00000315843.3_Silent_p.P629P|GPR156_ENST00000461057.1_Silent_p.P625P			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	629						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGTGTGCCCCAGGAACAGTCC	0.592																																					p.P629P		Atlas-SNP	.											.	GPR156	85	.	0			c.T1887A						.						49.0	50.0	49.0					3																	119886437		2203	4300	6503	SO:0001819	synonymous_variant	165829	exon9			TGCCCCAGGAACA	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1887T>A	chr3.hg19:g.119886437A>T		53.0	0.0		43.0	24.0	NM_153002	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	hg19	CCDS2997.1																																																																																			.	.		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
STXBP5L	9515	hgsc.bcm.edu	37	3	120871322	120871322	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:120871322A>G	ENST00000273666.6	+	8	940		c.e8-1		STXBP5L_ENST00000471454.1_Splice_Site|STXBP5L_ENST00000492541.1_Splice_Site|STXBP5L_ENST00000472879.1_Splice_Site|STXBP5L_ENST00000497029.1_Splice_Site	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGTTTTCCAGCTGCTAATA	0.279																																					.		Atlas-SNP	.											.	STXBP5L	159	.	0			c.670-2A>G						.						104.0	100.0	101.0					3																	120871322		1809	4072	5881	SO:0001630	splice_region_variant	9515	exon8			TTTTCCAGCTGCT	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.670-1A>G	chr3.hg19:g.120871322A>G		72.0	0.0		47.0	20.0	NM_014980	Q4G1B4|Q6PIC3	Splice_Site	SNP	ENST00000273666.6	hg19	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509066	0.85282	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7282	0.69360	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP5L	122354012	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.224000	0.89781	2.108000	0.64289	0.533000	0.62120	.	.	.		0.279	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Intron
POLQ	10721	hgsc.bcm.edu	37	3	121263593	121263593	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:121263593T>G	ENST00000264233.5	-	2	452	c.324A>C	c.(322-324)ggA>ggC	p.G108G		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTAAATTCTTTCCTTCCAGGA	0.338								DNA polymerases (catalytic subunits)																													p.G108G	Pancreas(152;907 1925 26081 31236 36904)	Atlas-SNP	.											.	POLQ	273	.	0			c.A324C						.						69.0	70.0	70.0					3																	121263593		2203	4300	6503	SO:0001819	synonymous_variant	10721	exon2			ATTCTTTCCTTCC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.324A>C	chr3.hg19:g.121263593T>G		166.0	0.0		159.0	67.0	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	hg19	CCDS33833.1																																																																																			.	.		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
CD86	942	hgsc.bcm.edu	37	3	121828150	121828150	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:121828150T>C	ENST00000330540.2	+	5	858	c.742T>C	c.(742-744)Tgg>Cgg	p.W248R	CD86_ENST00000469710.1_Missense_Mutation_p.W166R|CD86_ENST00000493101.1_Missense_Mutation_p.W136R|CD86_ENST00000393627.2_Missense_Mutation_p.W242R|CD86_ENST00000264468.5_Missense_Mutation_p.W35R	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	248					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CCACATTCCTTGGATTACAGC	0.423																																					p.W248R	GBM(67;1379 1389 36064 39806)	Atlas-SNP	.											.	CD86	43	.	0			c.T742C						.						119.0	109.0	112.0					3																	121828150		2203	4300	6503	SO:0001583	missense	942	exon5			ATTCCTTGGATTA		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.742T>C	chr3.hg19:g.121828150T>C	ENSP00000332049:p.Trp248Arg	106.0	0.0		93.0	38.0	NM_175862	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	hg19	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404570	0.42613	.	.	ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000264468;ENST00000393627	T;T;T;T;T	0.44083	3.27;2.46;4.22;0.93;4.24	4.3	0.558	0.17266	.	1.112010	0.06841	N	0.795690	T	0.52996	0.1769	L	0.54323	1.7	0.09310	N	1	D;D	0.67145	0.996;0.98	D;P	0.65443	0.935;0.809	T	0.36237	-0.9756	10	0.87932	D	0	0.0976	3.7037	0.08392	0.0:0.2025:0.1913:0.6062	.	136;248	E9PC27;P42081	.;CD86_HUMAN	R	166;136;248;35;242	ENSP00000418988:W166R;ENSP00000420230:W136R;ENSP00000332049:W248R;ENSP00000264468:W35R;ENSP00000377248:W242R	ENSP00000264468:W35R	W	+	1	0	CD86	123310840	0.664000	0.27457	0.001000	0.08648	0.014000	0.08584	0.943000	0.29030	0.086000	0.17137	0.533000	0.62120	TGG	.	.		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	
UROC1	131669	hgsc.bcm.edu	37	3	126219694	126219694	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:126219694T>C	ENST00000290868.2	-	11	1042	c.989A>G	c.(988-990)gAc>gGc	p.D330G	UROC1_ENST00000383579.3_Missense_Mutation_p.D390G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	330					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCCGTCGTGTCCAATTCGTG	0.642																																					p.D390G		Atlas-SNP	.											.	UROC1	150	.	0			c.A1169G						.						71.0	65.0	67.0					3																	126219694		2203	4300	6503	SO:0001583	missense	131669	exon12			GTCGTGTCCAATT	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.989A>G	chr3.hg19:g.126219694T>C	ENSP00000290868:p.Asp330Gly	72.0	0.0		57.0	22.0	NM_001165974	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	hg19	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	t	14.58	2.579013	0.46006	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.58797	0.32;0.31	4.94	3.76	0.43208	Urocanase domain (2);	0.291855	0.38837	N	0.001557	T	0.56761	0.2007	L	0.57536	1.79	0.40986	D	0.984814	B;B	0.26147	0.087;0.143	B;B	0.37198	0.158;0.243	T	0.56962	-0.7892	10	0.59425	D	0.04	-30.2383	8.7838	0.34807	0.0:0.0:0.1909:0.8091	.	390;330	E9PE13;Q96N76	.;HUTU_HUMAN	G	330;390	ENSP00000290868:D330G;ENSP00000373073:D390G	ENSP00000290868:D330G	D	-	2	0	UROC1	127702384	1.000000	0.71417	0.868000	0.34077	0.695000	0.40330	5.776000	0.68924	0.720000	0.32209	0.398000	0.26397	GAC	.	.		0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
PODXL2	50512	hgsc.bcm.edu	37	3	127379659	127379659	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:127379659A>C	ENST00000342480.6	+	3	827	c.788A>C	c.(787-789)cAa>cCa	p.Q263P		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	263					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TCCACCAGCCAAGAGGCAGAG	0.622																																					p.Q263P		Atlas-SNP	.											.	PODXL2	53	.	0			c.A788C						.						32.0	36.0	34.0					3																	127379659		2203	4300	6503	SO:0001583	missense	50512	exon3			CCAGCCAAGAGGC	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.788A>C	chr3.hg19:g.127379659A>C	ENSP00000345359:p.Gln263Pro	121.0	0.0		138.0	60.0	NM_015720	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	hg19	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	A	8.199	0.797645	0.16327	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.24538	1.85	4.67	-2.38	0.06622	.	1.062980	0.07431	N	0.895679	T	0.13927	0.0337	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31024	-0.9958	10	0.56958	D	0.05	-0.4626	1.9353	0.03335	0.3273:0.1714:0.366:0.1353	.	263	Q9NZ53	PDXL2_HUMAN	P	263	ENSP00000345359:Q263P	ENSP00000304498:Q263P	Q	+	2	0	PODXL2	128862349	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	-0.001000	0.12947	-0.642000	0.05480	0.402000	0.26972	CAA	.	.		0.622	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
CNBP	7555	hgsc.bcm.edu	37	3	128890513	128890513	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:128890513T>A	ENST00000422453.2	-	2	248	c.88A>T	c.(88-90)Aga>Tga	p.R30*	CNBP_ENST00000504813.1_Nonsense_Mutation_p.R30*|CNBP_ENST00000451728.2_Nonsense_Mutation_p.R30*|CNBP_ENST00000441626.2_Nonsense_Mutation_p.R30*|CNBP_ENST00000500450.2_Nonsense_Mutation_p.R30*|CNBP_ENST00000502976.1_Nonsense_Mutation_p.R30*|CNBP_ENST00000446936.2_Nonsense_Mutation_p.R30*	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	30	Arg/Gly-rich.				cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CCACGGCTTCTCATTCCACGA	0.493																																					p.R30X		Atlas-SNP	.											.	CNBP	12	.	0			c.A88T						.						57.0	57.0	57.0					3																	128890513		2203	4300	6503	SO:0001587	stop_gained	7555	exon2			GGCTTCTCATTCC	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.88A>T	chr3.hg19:g.128890513T>A	ENSP00000410619:p.Arg30*	367.0	1.0		293.0	141.0	NM_003418	A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Nonsense_Mutation	SNP	ENST00000422453.2	hg19	CCDS3056.1	.	.	.	.	.	.	.	.	.	.	T	36	5.642099	0.96704	.	.	ENSG00000169714	ENST00000502976;ENST00000422453;ENST00000451728;ENST00000446936;ENST00000500450;ENST00000504813;ENST00000441626;ENST00000512338	.	.	.	5.84	4.73	0.59995	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	0.4251	11.0137	0.47677	0.0:0.0:0.1904:0.8096	.	.	.	.	X	30	.	ENSP00000410619:R30X	R	-	1	2	CNBP	130373203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.143000	0.42187	2.243000	0.73865	0.482000	0.46254	AGA	.	.		0.493	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358419.1	NM_003418	
COL6A5	256076	hgsc.bcm.edu	37	3	130092493	130092493	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:130092493G>A	ENST00000432398.2	+	2	506	c.12G>A	c.(10-12)ttG>ttA	p.L4L	COL6A5_ENST00000265379.6_Silent_p.L4L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	0					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAGATCTTGCTAATTATAT	0.254																																					p.L4L		Atlas-SNP	.											.	COL6A5	205	.	0			c.G12A						.						54.0	51.0	52.0					3																	130092493		692	1583	2275	SO:0001819	synonymous_variant	256076	exon2			GATCTTGCTAATT	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.12G>A	chr3.hg19:g.130092493G>A		457.0	0.0		388.0	150.0	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	hg19																																																																																				.	.		0.254	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A6	131873	hgsc.bcm.edu	37	3	130281939	130281939	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:130281939T>C	ENST00000358511.6	+	2	123	c.92T>C	c.(91-93)tTg>tCg	p.L31S	COL6A6_ENST00000453409.2_Missense_Mutation_p.L31S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	31	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTGTGTTTTTGGTGGACAGC	0.413																																					p.L31S		Atlas-SNP	.											.	COL6A6	497	.	0			c.T92C						.						181.0	171.0	174.0					3																	130281939		1932	4132	6064	SO:0001583	missense	131873	exon2			TGTTTTTGGTGGA	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.92T>C	chr3.hg19:g.130281939T>C	ENSP00000351310:p.Leu31Ser	104.0	0.0		87.0	46.0	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817212	0.70912	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.87256	-2.23;-2.23	5.66	5.66	0.87406	von Willebrand factor, type A (3);	0.000000	0.46442	D	0.000300	D	0.94981	0.8376	M	0.92880	3.355	0.46499	D	0.999079	D	0.89917	1.0	D	0.91635	0.999	D	0.96041	0.9024	10	0.87932	D	0	.	15.5484	0.76126	0.0:0.0:0.0:1.0	.	31	A6NMZ7	CO6A6_HUMAN	S	31	ENSP00000351310:L31S;ENSP00000399236:L31S	ENSP00000351310:L31S	L	+	2	0	COL6A6	131764629	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.643000	0.83403	2.153000	0.67306	0.459000	0.35465	TTG	.	.		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	hgsc.bcm.edu	37	3	130284329	130284329	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:130284329C>A	ENST00000358511.6	+	3	1184	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q385K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	385	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCTGCTGAGCAGTATGTCTC	0.532																																					p.Q385K		Atlas-SNP	.											.	COL6A6	497	.	0			c.C1153A						.						83.0	95.0	91.0					3																	130284329		2058	4194	6252	SO:0001583	missense	131873	exon3			GCTGAGCAGTATG	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1153C>A	chr3.hg19:g.130284329C>A	ENSP00000351310:p.Gln385Lys	117.0	0.0		101.0	46.0	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	8.754	0.921883	0.17982	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82526	-1.62;-1.62	5.01	4.08	0.47627	von Willebrand factor, type A (3);	0.227271	0.31199	N	0.008062	T	0.71685	0.3369	N	0.25485	0.75	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.56685	-0.7938	10	0.25106	T	0.35	.	12.3584	0.55188	0.2913:0.7087:0.0:0.0	.	385	A6NMZ7	CO6A6_HUMAN	K	385	ENSP00000351310:Q385K;ENSP00000399236:Q385K	ENSP00000351310:Q385K	Q	+	1	0	COL6A6	131767019	0.496000	0.26059	0.957000	0.39632	0.984000	0.73092	0.258000	0.18387	2.492000	0.84095	0.561000	0.74099	CAG	.	.		0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
ATP2C1	27032	hgsc.bcm.edu	37	3	130714897	130714897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:130714897G>T	ENST00000510168.1	+	23	2618	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*	ATP2C1_ENST00000504381.1_Nonsense_Mutation_p.E635*|ATP2C1_ENST00000508532.1_Nonsense_Mutation_p.E690*|ATP2C1_ENST00000505330.1_Nonsense_Mutation_p.E674*|ATP2C1_ENST00000328560.8_Nonsense_Mutation_p.E690*|ATP2C1_ENST00000393221.4_Nonsense_Mutation_p.E724*|ATP2C1_ENST00000507488.2_Nonsense_Mutation_p.E674*|ATP2C1_ENST00000533801.2_Nonsense_Mutation_p.E685*|ATP2C1_ENST00000513801.1_Nonsense_Mutation_p.E674*|ATP2C1_ENST00000504948.1_Nonsense_Mutation_p.E674*|ATP2C1_ENST00000422190.2_Nonsense_Mutation_p.E690*|ATP2C1_ENST00000359644.3_Nonsense_Mutation_p.E690*|ATP2C1_ENST00000428331.2_Nonsense_Mutation_p.E690*			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	690					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E690K(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTGCAATCGAAGAGGGTAA	0.299									Hailey-Hailey disease																												p.E724X	Esophageal Squamous(99;456 1443 27647 34099 42636)	Atlas-SNP	.											ATP2C1,NS,carcinoma,0,5	ATP2C1	94	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2170T						.						78.0	93.0	88.0					3																	130714897		2202	4297	6499	SO:0001587	stop_gained	27032	exon22	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	GCAATCGAAGAGG	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2068G>T	chr3.hg19:g.130714897G>T	ENSP00000427461:p.Glu690*	30.0	0.0		23.0	10.0	NM_001199181	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Nonsense_Mutation	SNP	ENST00000510168.1	hg19	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	42	9.520463	0.99193	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	.	.	.	X	674;635;674;724;685;690;690;674;674;690;690;690;690;689	.	ENSP00000329664:E690X	E	+	1	0	ATP2C1	132197587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.689000	0.98673	2.720000	0.93068	0.491000	0.48974	GAA	.	.		0.299	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	
DNAJC13	23317	hgsc.bcm.edu	37	3	132153447	132153447	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:132153447A>G	ENST00000260818.6	+	2	301	c.53A>G	c.(52-54)cAt>cGt	p.H18R	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	18					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						ACAACAAAACATTCATGGAGG	0.318																																					p.H18R		Atlas-SNP	.											.	DNAJC13	253	.	0			c.A53G						.						98.0	100.0	99.0					3																	132153447		2203	4300	6503	SO:0001583	missense	23317	exon2			CAAAACATTCATG	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.53A>G	chr3.hg19:g.132153447A>G	ENSP00000260818:p.His18Arg	43.0	0.0		26.0	15.0	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349877	0.61183	.	.	ENSG00000138246	ENST00000260818	T	0.22539	1.95	5.35	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	M	0.74881	2.28	0.52501	D	0.999957	D;D	0.76494	0.999;0.998	D;D	0.76071	0.972;0.987	T	0.34875	-0.9811	10	0.59425	D	0.04	.	10.6146	0.45443	0.9225:0.0:0.0775:0.0	.	18;18	A7E2Y5;O75165	.;DJC13_HUMAN	R	18	ENSP00000260818:H18R	ENSP00000260818:H18R	H	+	2	0	DNAJC13	133636137	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.237000	0.78164	0.965000	0.38133	-0.290000	0.09829	CAT	.	.		0.318	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
TMEM108	66000	hgsc.bcm.edu	37	3	132948183	132948183	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:132948183T>C	ENST00000321871.6	+	3	238	c.28T>C	c.(28-30)Tgc>Cgc	p.C10R	TMEM108_ENST00000393130.3_Missense_Mutation_p.C10R|TMEM108_ENST00000508711.1_Missense_Mutation_p.C10R|TMEM108_ENST00000515826.1_Missense_Mutation_p.C10R	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	10						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCCTCTATTGCCAACTGTT	0.373																																					p.C10R		Atlas-SNP	.											.	TMEM108	67	.	0			c.T28C						.						117.0	109.0	111.0					3																	132948183		2203	4300	6503	SO:0001583	missense	66000	exon3			CTCTATTGCCAAC	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.28T>C	chr3.hg19:g.132948183T>C	ENSP00000324651:p.Cys10Arg	60.0	0.0		44.0	14.0	NM_023943	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	hg19	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247445	0.59103	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000508711;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.53	5.53	0.82687	.	0.000000	0.41605	D	0.000849	T	0.70482	0.3229	L	0.51422	1.61	0.53005	D	0.999969	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.87578	0.983;0.997;0.998	T	0.73369	-0.4004	10	0.87932	D	0	-6.193	13.6125	0.62088	0.0:0.0:0.0:1.0	.	10;10;10	B3KT64;E9PB58;Q6UXF1	.;.;TM108_HUMAN	R	10	ENSP00000324651:C10R;ENSP00000376838:C10R;ENSP00000426301:C10R;ENSP00000422196:C10R;ENSP00000423338:C10R;ENSP00000421486:C10R	ENSP00000324651:C10R	C	+	1	0	TMEM108	134430873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.497000	0.53295	2.112000	0.64535	0.533000	0.62120	TGC	.	.		0.373	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943	
TMEM108	66000	hgsc.bcm.edu	37	3	133099726	133099726	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:133099726A>T	ENST00000321871.6	+	4	1381	c.1171A>T	c.(1171-1173)Agg>Tgg	p.R391W	TMEM108_ENST00000393130.3_Missense_Mutation_p.R391W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Missense_Mutation_p.R391W	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	391						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCATCCCTCCAGGGTCTCAGA	0.612																																					p.R391W		Atlas-SNP	.											.	TMEM108	67	.	0			c.A1171T						.						51.0	51.0	51.0					3																	133099726		2203	4300	6503	SO:0001583	missense	66000	exon4			CCCTCCAGGGTCT	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1171A>T	chr3.hg19:g.133099726A>T	ENSP00000324651:p.Arg391Trp	69.0	0.0		66.0	29.0	NM_023943	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	hg19	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	A	4.291	0.053236	0.08291	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.46063	0.89;0.89;0.88	3.53	-1.07	0.09968	.	1.603450	0.03647	N	0.240454	T	0.16128	0.0388	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.11591	-1.0581	10	0.37606	T	0.19	-0.1295	1.256	0.01991	0.2725:0.1614:0.4031:0.163	.	391;391	E9PB58;Q6UXF1	.;TM108_HUMAN	W	391	ENSP00000324651:R391W;ENSP00000376838:R391W;ENSP00000423338:R391W	ENSP00000324651:R391W	R	+	1	2	TMEM108	134582416	0.001000	0.12720	0.146000	0.22360	0.578000	0.36192	0.367000	0.20382	-0.022000	0.13986	-1.467000	0.01014	AGG	.	.		0.612	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943	
BFSP2	8419	hgsc.bcm.edu	37	3	133169265	133169265	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:133169265T>C	ENST00000302334.2	+	4	937	c.848T>C	c.(847-849)gTt>gCt	p.V283A	BFSP2_ENST00000511434.1_3'UTR|BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	283	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGAGATGTTGAAAAGAAC	0.552																																					p.V283A		Atlas-SNP	.											BFSP2,NS,lymphoid_neoplasm,0,1	BFSP2	48	.	0			c.T848C						.						115.0	109.0	111.0					3																	133169265		2203	4300	6503	SO:0001583	missense	8419	exon4			GAGATGTTGAAAA	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.848T>C	chr3.hg19:g.133169265T>C	ENSP00000304987:p.Val283Ala	56.0	0.0		48.0	19.0	NM_003571	Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	hg19	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	T	1.163	-0.643225	0.03531	.	.	ENSG00000170819	ENST00000302334	D	0.87334	-2.24	5.14	3.99	0.46301	Filament (1);	0.637750	0.14156	N	0.337739	T	0.71813	0.3384	N	0.10809	0.05	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.52749	-0.8534	10	0.02654	T	1	-9.7624	10.7718	0.46327	0.0:0.0741:0.0:0.9259	.	283	Q13515	BFSP2_HUMAN	A	283	ENSP00000304987:V283A	ENSP00000304987:V283A	V	+	2	0	BFSP2	134651955	0.872000	0.30054	0.069000	0.20011	0.959000	0.62525	2.054000	0.41335	0.997000	0.38969	0.454000	0.30748	GTT	.	.		0.552	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1		
TOPBP1	11073	hgsc.bcm.edu	37	3	133372268	133372268	+	Missense_Mutation	SNP	T	T	C	rs572308153		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:133372268T>C	ENST00000260810.5	-	7	974	c.843A>G	c.(841-843)atA>atG	p.I281M	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	281	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTGTCTTGTATATGGATTCAT	0.403								Other conserved DNA damage response genes					T|||	1	0.000199681	0.0008	0.0	5008	,	,		14780	0.0		0.0	False		,,,				2504	0.0				p.I281M	Ovarian(21;193 658 4424 15423 17362)	Atlas-SNP	.											.	TOPBP1	218	.	0			c.A843G						.						187.0	176.0	180.0					3																	133372268		1894	4117	6011	SO:0001583	missense	11073	exon7			CTTGTATATGGAT	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.843A>G	chr3.hg19:g.133372268T>C	ENSP00000260810:p.Ile281Met	78.0	0.0		68.0	26.0	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	hg19	CCDS46919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.86|13.86	2.363545|2.363545	0.41902|0.41902	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000260810|ENST00000508524	T|.	0.57273|.	0.41|.	5.78|5.78	-9.35|-9.35	0.00633|0.00633	BRCT (2);|.	0.379952|.	0.33753|.	N|.	0.004581|.	T|T	0.13243|0.13243	0.0321|0.0321	N|N	0.01482|0.01482	-0.84|-0.84	0.32048|0.32048	N|N	0.597277|0.597277	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.35943|0.35943	-0.9768|-0.9768	10|5	0.30078|.	T|.	0.28|.	.|.	13.4997|13.4997	0.61447|0.61447	0.0811:0.7558:0.0:0.1631|0.0811:0.7558:0.0:0.1631	.|.	281|.	Q92547|.	TOPB1_HUMAN|.	M|C	281|126	ENSP00000260810:I281M|.	ENSP00000260810:I281M|.	I|Y	-|-	3|2	3|0	TOPBP1|TOPBP1	134854958|134854958	0.067000|0.067000	0.21026|0.21026	0.617000|0.617000	0.29091|0.29091	0.938000|0.938000	0.57974|0.57974	-0.605000|-0.605000	0.05661|0.05661	-2.042000|-2.042000	0.00914|0.00914	-1.013000|-1.013000	0.02462|0.02462	ATA|TAT	.	.		0.403	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
CEP63	80254	hgsc.bcm.edu	37	3	134265095	134265095	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:134265095G>T	ENST00000337090.3	+	8	1067	c.894G>T	c.(892-894)aaG>aaT	p.K298N	CEP63_ENST00000354446.3_Missense_Mutation_p.K298N|CEP63_ENST00000332047.5_Missense_Mutation_p.K298N|CEP63_ENST00000513612.2_Missense_Mutation_p.K298N|CEP63_ENST00000383229.3_Missense_Mutation_p.K298N|CEP63_ENST00000606977.1_Missense_Mutation_p.K298N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	298					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAAAGTAAAGGCAACTAACA	0.348																																					p.K298N		Atlas-SNP	.											.	CEP63	56	.	0			c.G894T						.						100.0	104.0	102.0					3																	134265095		2203	4300	6503	SO:0001583	missense	80254	exon8			AGTAAAGGCAACT	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.894G>T	chr3.hg19:g.134265095G>T	ENSP00000336524:p.Lys298Asn	403.0	0.0		424.0	210.0	NM_001042383	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	hg19	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.876|9.876	1.200200|1.200200	0.22121|0.22121	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612|ENST00000504929	T;T;T;T;T|.	0.32988|.	1.43;1.82;2.2;1.45;2.2|.	6.1|6.1	0.885|0.885	0.19188|0.19188	.|.	0.511065|.	0.21565|.	N|.	0.072511|.	T|T	0.43233|0.43233	0.1238|0.1238	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	B;P;B;B|.	0.40834|.	0.034;0.73;0.003;0.003|.	B;B;B;B|.	0.39531|.	0.021;0.302;0.003;0.003|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|5	0.21014|.	T|.	0.42|.	-12.681|-12.681	6.6051|6.6051	0.22721|0.22721	0.3358:0.0:0.5417:0.1225|0.3358:0.0:0.5417:0.1225	.|.	298;298;298;298|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	N|M	298|33	ENSP00000328382:K298N;ENSP00000346432:K298N;ENSP00000336524:K298N;ENSP00000372716:K298N;ENSP00000426129:K298N|.	ENSP00000328382:K298N|.	K|R	+|+	3|2	2|0	CEP63|CEP63	135747785|135747785	0.000000|0.000000	0.05858|0.05858	0.034000|0.034000	0.17996|0.17996	0.019000|0.019000	0.09904|0.09904	-0.683000|-0.683000	0.05179|0.05179	0.475000|0.475000	0.27415|0.27415	0.650000|0.650000	0.86243|0.86243	AAG|AGG	.	.		0.348	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
SPSB4	92369	hgsc.bcm.edu	37	3	140785585	140785585	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:140785585G>T	ENST00000310546.2	+	2	1383	c.639G>T	c.(637-639)gtG>gtT	p.V213V		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	213	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACCCGGTGGTGAGTGCCGTGT	0.612																																					p.V213V		Atlas-SNP	.											.	SPSB4	19	.	0			c.G639T						.						73.0	70.0	71.0					3																	140785585		2203	4300	6503	SO:0001819	synonymous_variant	92369	exon2			GGTGGTGAGTGCC		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.639G>T	chr3.hg19:g.140785585G>T		81.0	0.0		77.0	43.0	NM_080862		Silent	SNP	ENST00000310546.2	hg19	CCDS3115.1																																																																																			.	.		0.612	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862	
XRN1	54464	hgsc.bcm.edu	37	3	142122605	142122605	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:142122605T>C	ENST00000264951.4	-	18	2131	c.2014A>G	c.(2014-2016)Aag>Gag	p.K672E	XRN1_ENST00000392981.2_Missense_Mutation_p.K672E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	672					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCACTTTTCTTCAAAAAAAAC	0.289																																					p.K672E		Atlas-SNP	.											.	XRN1	138	.	0			c.A2014G						.						68.0	70.0	69.0					3																	142122605		2203	4298	6501	SO:0001583	missense	54464	exon18			TTTTCTTCAAAAA	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2014A>G	chr3.hg19:g.142122605T>C	ENSP00000264951:p.Lys672Glu	309.0	0.0		309.0	120.0	NM_001042604	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767057	0.69878	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39056	1.1;1.1	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	N	0.25380	0.74	0.80722	D	1	B;B;B	0.31548	0.112;0.328;0.22	B;B;B	0.32928	0.05;0.155;0.074	T	0.08638	-1.0712	10	0.08837	T	0.75	-15.9895	15.8761	0.79162	0.0:0.0:0.0:1.0	.	533;672;672	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	E	672	ENSP00000264951:K672E;ENSP00000376707:K672E	ENSP00000264951:K672E	K	-	1	0	XRN1	143605295	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.957000	0.76019	2.139000	0.66308	0.533000	0.62120	AAG	.	.		0.289	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
ATR	545	hgsc.bcm.edu	37	3	142253962	142253962	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:142253962T>A	ENST00000350721.4	-	21	4026	c.3905A>T	c.(3904-3906)cAt>cTt	p.H1302L	ATR_ENST00000383101.3_Missense_Mutation_p.H1238L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1302					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTAAGAGCATGAATACGAAC	0.348								Other conserved DNA damage response genes																													p.H1302L		Atlas-SNP	.											.	ATR	285	.	0			c.A3905T						.						77.0	76.0	77.0					3																	142253962		2203	4300	6503	SO:0001583	missense	545	exon21			AGAGCATGAATAC	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3905A>T	chr3.hg19:g.142253962T>A	ENSP00000343741:p.His1302Leu	99.0	0.0		106.0	55.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120036	0.56613	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04083	3.71;4.02	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.108901	0.64402	D	0.000007	T	0.10766	0.0263	L	0.48362	1.52	0.80722	D	1	D	0.54601	0.967	P	0.55545	0.778	T	0.33137	-0.9880	10	0.09843	T	0.71	-20.557	15.9415	0.79758	0.0:0.0:0.0:1.0	.	1302	Q13535	ATR_HUMAN	L	1302;1238	ENSP00000343741:H1302L;ENSP00000372581:H1238L	ENSP00000343741:H1302L	H	-	2	0	ATR	143736652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.157000	0.67596	0.533000	0.62120	CAT	.	.		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	hgsc.bcm.edu	37	3	142281191	142281191	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:142281191C>A	ENST00000350721.4	-	4	1174	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	ATR_ENST00000383101.3_Missense_Mutation_p.Q351H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	351					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAAGGAAATACTGCAGTAAAT	0.398								Other conserved DNA damage response genes																													p.Q351H		Atlas-SNP	.											.	ATR	285	.	0			c.G1053T						.						69.0	69.0	69.0					3																	142281191		2203	4300	6503	SO:0001583	missense	545	exon4			GAAATACTGCAGT	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1053G>T	chr3.hg19:g.142281191C>A	ENSP00000343741:p.Gln351His	224.0	0.0		190.0	97.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413003	0.25465	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.65916	-0.18;-0.18	5.67	2.49	0.30216	Armadillo-like helical (1);Armadillo-type fold (1);	0.538297	0.20497	N	0.091172	T	0.38746	0.1052	N	0.17082	0.46	0.24308	N	0.995095	B	0.10296	0.003	B	0.08055	0.003	T	0.13980	-1.0489	10	0.20519	T	0.43	-10.3408	5.9749	0.19373	0.134:0.5457:0.0:0.3203	.	351	Q13535	ATR_HUMAN	H	351;351;32	ENSP00000343741:Q351H;ENSP00000372581:Q351H	ENSP00000343741:Q351H	Q	-	3	2	ATR	143763881	0.866000	0.29940	1.000000	0.80357	0.789000	0.44602	-0.193000	0.09573	0.764000	0.33197	-0.229000	0.12294	CAG	.	.		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
CPB1	1360	hgsc.bcm.edu	37	3	148558665	148558665	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:148558665A>T	ENST00000491148.1	+	6	711	c.377A>T	c.(376-378)gAg>gTg	p.E126V	CPB1_ENST00000282957.4_Missense_Mutation_p.E126V			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	126						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGTAGATAGAGGCTTGGACT	0.443																																					p.E126V		Atlas-SNP	.											.	CPB1	74	.	0			c.A377T						.						134.0	132.0	133.0					3																	148558665		2203	4300	6503	SO:0001583	missense	1360	exon5			AGATAGAGGCTTG	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.377A>T	chr3.hg19:g.148558665A>T	ENSP00000417222:p.Glu126Val	78.0	0.0		83.0	40.0	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	hg19	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	A	8.391	0.839742	0.16891	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.28666	1.6;1.6	5.29	5.29	0.74685	Peptidase M14, carboxypeptidase A (2);	0.413650	0.27861	N	0.017546	T	0.23727	0.0574	L	0.28014	0.82	0.42632	D	0.993382	B	0.15473	0.013	B	0.19391	0.025	T	0.04621	-1.0938	10	0.51188	T	0.08	.	12.0893	0.53717	0.8466:0.1534:0.0:0.0	.	126	P15086	CBPB1_HUMAN	V	126	ENSP00000417222:E126V;ENSP00000282957:E126V	ENSP00000282957:E126V	E	+	2	0	CPB1	150041355	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.407000	0.52644	2.003000	0.58678	0.533000	0.62120	GAG	.	.		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
ANKUB1	389161	hgsc.bcm.edu	37	3	149485426	149485426	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:149485426T>C	ENST00000383050.3	-	5	1479	c.1023A>G	c.(1021-1023)gcA>gcG	p.A341A	ANKUB1_ENST00000462519.2_Silent_p.A341A|ANKUB1_ENST00000446160.1_Silent_p.A341A			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	341										breast(1)|kidney(1)|lung(1)|skin(1)	4						CTCCAACTTTTGCCCCAAAGA	0.448																																					p.A341A		Atlas-SNP	.											.	ANKUB1	27	.	0			c.A1023G						.						81.0	64.0	69.0					3																	149485426		692	1591	2283	SO:0001819	synonymous_variant	389161	exon5			AACTTTTGCCCCA	AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.1023A>G	chr3.hg19:g.149485426T>C		44.0	0.0		44.0	21.0	NM_001144960	B4E2N8	Silent	SNP	ENST00000383050.3	hg19																																																																																				.	.		0.448	ANKUB1-201	KNOWN	basic	protein_coding	protein_coding		NM_001144960	
ERICH6	131831	hgsc.bcm.edu	37	3	150396254	150396254	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:150396254T>G	ENST00000295910.6	-	10	1251	c.1199A>C	c.(1198-1200)cAa>cCa	p.Q400P	FAM194A_ENST00000491361.1_Missense_Mutation_p.Q254P	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTTCTTAGTTGAAAATCAAA	0.289																																					p.Q400P		Atlas-SNP	.											.	FAM194A	91	.	0			c.A1199C						.						78.0	73.0	74.0					3																	150396254		2201	4289	6490	SO:0001583	missense	131831	exon10			CTTAGTTGAAAAT																												ENST00000295910.6:c.1199A>C	chr3.hg19:g.150396254T>G	ENSP00000295910:p.Gln400Pro	222.0	0.0		230.0	87.0	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	hg19	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	8.218	0.801887	0.16397	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14893	2.67;2.47	3.29	-2.69	0.06022	.	1.845390	0.03212	N	0.176371	T	0.16557	0.0398	L	0.47716	1.5	0.09310	N	1	P	0.35982	0.531	B	0.37833	0.259	T	0.27839	-1.0062	10	0.42905	T	0.14	2.7799	5.6877	0.17813	0.6035:0.0:0.1533:0.2431	.	400	Q7L0X2	F194A_HUMAN	P	400;254;358	ENSP00000295910:Q400P;ENSP00000419366:Q254P	ENSP00000295910:Q400P	Q	-	2	0	FAM194A	151878944	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.332000	0.07904	-0.506000	0.06558	0.455000	0.32223	CAA	.	.		0.289	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
P2RY1	5028	hgsc.bcm.edu	37	3	152554322	152554322	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:152554322A>T	ENST00000305097.3	+	1	1587	c.751A>T	c.(751-753)Aac>Tac	p.N251Y	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	251					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGATCTGGACAACTCTCCTCT	0.438																																					p.N251Y		Atlas-SNP	.											.	P2RY1	49	.	0			c.A751T						.						105.0	100.0	102.0					3																	152554322		2203	4300	6503	SO:0001583	missense	5028	exon1			CTGGACAACTCTC	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.751A>T	chr3.hg19:g.152554322A>T	ENSP00000304767:p.Asn251Tyr	88.0	0.0		77.0	41.0	NM_002563		Missense_Mutation	SNP	ENST00000305097.3	hg19	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438213	0.62955	.	.	ENSG00000169860	ENST00000305097	T	0.20738	2.05	5.58	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.54323	1.7	0.53688	D	0.999972	P	0.38250	0.624	B	0.41088	0.347	T	0.01748	-1.1282	10	0.72032	D	0.01	.	7.7887	0.29108	0.7886:0.1391:0.0723:0.0	.	251	P47900	P2RY1_HUMAN	Y	251	ENSP00000304767:N251Y	ENSP00000304767:N251Y	N	+	1	0	P2RY1	154037012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.406000	0.80017	0.372000	0.24591	0.460000	0.39030	AAC	.	.		0.438	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563	
GPR149	344758	hgsc.bcm.edu	37	3	154145340	154145340	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:154145340T>C	ENST00000389740.2	-	2	1238	c.1139A>G	c.(1138-1140)cAg>cGg	p.Q380R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	380					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATGCGTTCTGCCTGCAGTT	0.498																																					p.Q380R		Atlas-SNP	.											.	GPR149	134	.	0			c.A1139G						.						70.0	73.0	72.0					3																	154145340		2010	4184	6194	SO:0001583	missense	344758	exon2			GCGTTCTGCCTGC	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1139A>G	chr3.hg19:g.154145340T>C	ENSP00000374390:p.Gln380Arg	52.0	0.0		49.0	21.0	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	hg19	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	9.864	1.197092	0.22037	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.76	0.514	0.17007	.	0.313002	0.33753	N	0.004582	T	0.22627	0.0546	L	0.35723	1.085	0.26144	N	0.980238	B	0.02656	0.0	B	0.04013	0.001	T	0.20338	-1.0278	9	0.06891	T	0.86	-4.3338	4.9532	0.14025	0.0:0.263:0.2954:0.4416	.	380	Q86SP6	GP149_HUMAN	R	380	.	ENSP00000374390:Q380R	Q	-	2	0	GPR149	155628034	0.227000	0.23707	0.408000	0.26446	0.935000	0.57460	0.124000	0.15728	0.441000	0.26529	0.533000	0.62120	CAG	.	.		0.498	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
GPR149	344758	hgsc.bcm.edu	37	3	154145356	154145356	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:154145356T>C	ENST00000389740.2	-	2	1222	c.1123A>G	c.(1123-1125)Atc>Gtc	p.I375V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	375					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGTTGATGATGCAGCCACAG	0.507																																					p.I375V		Atlas-SNP	.											.	GPR149	134	.	0			c.A1123G						.						72.0	75.0	74.0					3																	154145356		2024	4193	6217	SO:0001583	missense	344758	exon2			TGATGATGCAGCC	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1123A>G	chr3.hg19:g.154145356T>C	ENSP00000374390:p.Ile375Val	58.0	0.0		56.0	23.0	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	hg19	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.415183	0.42817	.	.	ENSG00000174948	ENST00000389740	.	.	.	6.03	2.4	0.29515	.	0.099447	0.64402	N	0.000001	T	0.52597	0.1744	M	0.66939	2.045	0.35933	D	0.832662	B	0.21071	0.051	B	0.14023	0.01	T	0.56183	-0.8021	9	0.87932	D	0	-13.642	9.5231	0.39147	0.0:0.1975:0.0:0.8025	.	375	Q86SP6	GP149_HUMAN	V	375	.	ENSP00000374390:I375V	I	-	1	0	GPR149	155628050	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.500000	0.45381	0.184000	0.20083	-0.256000	0.11100	ATC	.	.		0.507	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
MME	4311	hgsc.bcm.edu	37	3	154889935	154889935	+	Silent	SNP	C	C	A	rs201494121		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:154889935C>A	ENST00000460393.1	+	21	2130	c.2010C>A	c.(2008-2010)ggC>ggA	p.G670G	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.G670G|MME_ENST00000493237.1_Silent_p.G670G|MME_ENST00000462745.1_Silent_p.G670G|MME_ENST00000492661.1_Silent_p.G670G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	670					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAAAGAATGGCGAAGAAAAAT	0.279																																					p.G670G		Atlas-SNP	.											MME,NS,carcinoma,0,1	MME	133	.	0			c.C2010A						.						80.0	85.0	84.0					3																	154889935		2200	4297	6497	SO:0001819	synonymous_variant	4311	exon21			GAATGGCGAAGAA		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2010C>A	chr3.hg19:g.154889935C>A		370.0	1.0		358.0	167.0	NM_007287	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	hg19	CCDS3172.1																																																																																			.	.		0.279	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
TRIM59	286827	hgsc.bcm.edu	37	3	160156798	160156798	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:160156798A>G	ENST00000309784.4	-	3	359	c.174T>C	c.(172-174)aaT>aaC	p.N58N	TRIM59_ENST00000543469.1_Silent_p.N58N|RP11-432B6.3_ENST00000483754.1_Silent_p.N58N	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	58					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACTTCTGCAATTAGGGCACT	0.363																																					p.N58N		Atlas-SNP	.											.	TRIM59	42	.	0			c.T174C						.						103.0	105.0	104.0					3																	160156798		2203	4300	6503	SO:0001819	synonymous_variant	286827	exon3			TCTGCAATTAGGG	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.174T>C	chr3.hg19:g.160156798A>G		132.0	0.0		120.0	46.0	NM_173084	A8K5G9|D3DNL9	Silent	SNP	ENST00000309784.4	hg19	CCDS3190.1																																																																																			.	.		0.363	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
SI	6476	hgsc.bcm.edu	37	3	164739156	164739156	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:164739156T>C	ENST00000264382.3	-	27	3177	c.3115A>G	c.(3115-3117)Aag>Gag	p.K1039E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1039	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TATCTCTTCTTTTGGGGATCA	0.328										HNSCC(35;0.089)																											p.K1039E		Atlas-SNP	.											.	SI	500	.	0			c.A3115G						.						200.0	201.0	201.0					3																	164739156		2203	4300	6503	SO:0001583	missense	6476	exon27			TCTTCTTTTGGGG	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3115A>G	chr3.hg19:g.164739156T>C	ENSP00000264382:p.Lys1039Glu	106.0	0.0		91.0	41.0	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	6.373	0.436880	0.12104	.	.	ENSG00000090402	ENST00000264382	T	0.08634	3.07	4.58	2.07	0.26955	Glycoside hydrolase-type carbohydrate-binding (1);	0.496080	0.21799	N	0.068960	T	0.07188	0.0182	L	0.33339	1.005	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.29058	-1.0024	10	0.41790	T	0.15	.	11.1501	0.48453	0.0:0.0:0.29:0.71	.	1039	P14410	SUIS_HUMAN	E	1039	ENSP00000264382:K1039E	ENSP00000264382:K1039E	K	-	1	0	SI	166221850	0.005000	0.15991	0.004000	0.12327	0.263000	0.26337	1.582000	0.36568	0.250000	0.21479	0.477000	0.44152	AAG	.	.		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
LRRIQ4	344657	hgsc.bcm.edu	37	3	169539921	169539921	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:169539921A>G	ENST00000340806.6	+	1	212	c.212A>G	c.(211-213)aAg>aGg	p.K71R		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	71										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CAGCGTTTAAAGAACATCAGG	0.498																																					p.K71R		Atlas-SNP	.											.	LRRIQ4	68	.	0			c.A212G						.						89.0	92.0	91.0					3																	169539921		1905	4124	6029	SO:0001583	missense	344657	exon1			GTTTAAAGAACAT		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.212A>G	chr3.hg19:g.169539921A>G	ENSP00000342188:p.Lys71Arg	107.0	0.0		112.0	45.0	NM_001080460		Missense_Mutation	SNP	ENST00000340806.6	hg19	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925650	0.18056	.	.	ENSG00000188306	ENST00000340806	T	0.58210	0.35	5.69	0.256	0.15567	.	1.107440	0.06629	N	0.758909	T	0.32071	0.0817	N	0.15975	0.35	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.19516	-1.0303	10	0.20519	T	0.43	.	6.5895	0.22639	0.5626:0.1311:0.3063:0.0	.	71	A6NIV6	LRIQ4_HUMAN	R	71	ENSP00000342188:K71R	ENSP00000342188:K71R	K	+	2	0	LRRIQ4	171022615	0.005000	0.15991	0.001000	0.08648	0.005000	0.04900	0.051000	0.14141	0.123000	0.18342	0.459000	0.35465	AAG	.	.		0.498	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
SPATA16	83893	hgsc.bcm.edu	37	3	172643281	172643281	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:172643281A>T	ENST00000351008.3	-	7	1266	c.1083T>A	c.(1081-1083)gaT>gaA	p.D361E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	361					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTGCTTGAAGATCTGAAATAT	0.378																																					p.D361E		Atlas-SNP	.											.	SPATA16	111	.	0			c.T1083A						.						78.0	75.0	76.0					3																	172643281		2203	4300	6503	SO:0001630	splice_region_variant	83893	exon7			TTGAAGATCTGAA	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1082-1T>A	chr3.hg19:g.172643281A>T		201.0	0.0		163.0	75.0	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	hg19	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479143	0.44044	.	.	ENSG00000144962	ENST00000351008	T	0.24723	1.84	5.06	-0.0959	0.13639	.	0.000000	0.64402	D	0.000001	T	0.33147	0.0853	L	0.32530	0.975	0.26284	N	0.978228	D	0.76494	0.999	D	0.80764	0.994	T	0.11227	-1.0596	10	0.87932	D	0	.	8.8598	0.35249	0.6817:0.0:0.3183:0.0	.	361	Q9BXB7	SPT16_HUMAN	E	361	ENSP00000341765:D361E	ENSP00000341765:D361E	D	-	3	2	SPATA16	174125975	0.999000	0.42202	0.378000	0.26068	0.203000	0.24098	0.540000	0.23191	0.039000	0.15632	0.379000	0.24179	GAT	.	.		0.378	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	Missense_Mutation
ECE2	9718	hgsc.bcm.edu	37	3	184009911	184009911	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:184009911G>T	ENST00000402825.3	+	19	2537	c.2537G>T	c.(2536-2538)aGc>aTc	p.S846I	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.S728I|ECE2_ENST00000359140.4_Missense_Mutation_p.S699I|ECE2_ENST00000357474.5_Missense_Mutation_p.S774I	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	846	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCCCCACAGCCCTGCCCGC	0.672																																					p.S846I		Atlas-SNP	.											.	ECE2	303	.	0			c.G2537T						.						38.0	40.0	40.0					3																	184009911		2203	4299	6502	SO:0001583	missense	9718	exon19			CCCACAGCCCTGC	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2537G>T	chr3.hg19:g.184009911G>T	ENSP00000384223:p.Ser846Ile	119.0	0.0		106.0	26.0	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	hg19	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	33	5.226524	0.95173	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.38	5.38	0.77491	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	H	0.99026	4.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.995;0.999	D	0.97587	1.0114	10	0.87932	D	0	-25.1487	16.6245	0.84952	0.0:0.0:1.0:0.0	.	728;774;699;846	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	I	846;699;728;774	ENSP00000384223:S846I;ENSP00000352052:S699I;ENSP00000385846:S728I;ENSP00000350066:S774I	ENSP00000350066:S774I	S	+	2	0	ECE2	185492605	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.827000	0.99397	2.515000	0.84797	0.491000	0.48974	AGC	.	.		0.672	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
EPHB3	2049	hgsc.bcm.edu	37	3	184298263	184298263	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:184298263T>A	ENST00000330394.2	+	12	2698	c.2246T>A	c.(2245-2247)cTg>cAg	p.L749Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	749	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAAGTACCTGTCCGAGATG	0.577																																					p.L749Q		Atlas-SNP	.											.	EPHB3	114	.	0			c.T2246A						.						167.0	153.0	158.0					3																	184298263		2203	4300	6503	SO:0001583	missense	2049	exon12			AGTACCTGTCCGA	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2246T>A	chr3.hg19:g.184298263T>A	ENSP00000332118:p.Leu749Gln	105.0	0.0		80.0	35.0	NM_004443	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	hg19	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867791	0.72065	.	.	ENSG00000182580	ENST00000330394	D	0.92699	-3.09	4.06	4.06	0.47325	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.97520	0.9188	H	0.99726	4.73	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	D	0.98316	1.0526	10	0.87932	D	0	.	12.9094	0.58171	0.0:0.0:0.0:1.0	.	749	P54753	EPHB3_HUMAN	Q	749	ENSP00000332118:L749Q	ENSP00000332118:L749Q	L	+	2	0	EPHB3	185780957	1.000000	0.71417	0.993000	0.49108	0.933000	0.57130	7.976000	0.88070	1.806000	0.52798	0.486000	0.48141	CTG	.	.		0.577	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
RTP4	64108	hgsc.bcm.edu	37	3	187088757	187088757	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:187088757A>T	ENST00000259030.2	+	2	447	c.337A>T	c.(337-339)Agg>Tgg	p.R113W		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	113					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TAGCACCATGAGGATTCTGAG	0.507																																					p.R113W		Atlas-SNP	.											.	RTP4	20	.	0			c.A337T						.						61.0	60.0	60.0					3																	187088757		2203	4300	6503	SO:0001583	missense	64108	exon2			ACCATGAGGATTC	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.337A>T	chr3.hg19:g.187088757A>T	ENSP00000259030:p.Arg113Trp	109.0	0.0		103.0	48.0	NM_022147	Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	hg19	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707752	0.30322	.	.	ENSG00000136514	ENST00000259030	T	0.19806	2.12	4.09	2.93	0.34026	.	0.472128	0.22966	N	0.053495	T	0.43366	0.1244	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.17471	-1.0368	10	0.87932	D	0	-9.9314	7.5665	0.27881	0.7511:0.2489:0.0:0.0	.	113	Q96DX8	RTP4_HUMAN	W	113	ENSP00000259030:R113W	ENSP00000259030:R113W	R	+	1	2	RTP4	188571451	0.001000	0.12720	0.003000	0.11579	0.013000	0.08279	1.306000	0.33505	0.920000	0.36970	0.533000	0.62120	AGG	.	.		0.507	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147	
LEPREL1	55214	hgsc.bcm.edu	37	3	189691795	189691795	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:189691795T>A	ENST00000319332.5	-	10	1650		c.e10-2		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATGATTCCCTGGAAGCAAAT	0.408																																					.		Atlas-SNP	.											.	LEPREL1	95	.	0			c.910-2A>T						.						161.0	161.0	161.0					3																	189691795		2203	4300	6503	SO:0001630	splice_region_variant	55214	exon11			ATTCCCTGGAAGC		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1453-2A>T	chr3.hg19:g.189691795T>A		120.0	0.0		91.0	42.0	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Splice_Site	SNP	ENST00000319332.5	hg19	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241296	0.58995	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7632	0.69619	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEPREL1	191174489	1.000000	0.71417	0.929000	0.37066	0.700000	0.40528	7.207000	0.77899	2.169000	0.68431	0.402000	0.26972	.	.	.		0.408	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	Intron
CLDN16	10686	hgsc.bcm.edu	37	3	190120151	190120151	+	Missense_Mutation	SNP	G	G	T	rs104893732		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:190120151G>T	ENST00000264734.2	+	2	598	c.350G>T	c.(349-351)tGg>tTg	p.W117L	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	117					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CGAGGCCTCTGGTGGGAATGC	0.478																																					p.W117L		Atlas-SNP	.											.	CLDN16	59	.	0			c.G350T	GRCh37	CM001068	CLDN16	M	rs104893732	.						164.0	153.0	157.0					3																	190120151		2203	4300	6503	SO:0001583	missense	10686	exon2			GCCTCTGGTGGGA	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.350G>T	chr3.hg19:g.190120151G>T	ENSP00000264734:p.Trp117Leu	83.0	0.0		65.0	20.0	NM_006580		Missense_Mutation	SNP	ENST00000264734.2	hg19	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015639	0.93404	.	.	ENSG00000113946	ENST00000264734	D	0.98455	-4.94	5.94	5.94	0.96194	Claudin, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99108	0.9693	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99698	1.1003	10	0.87932	D	0	-28.1606	19.3653	0.94459	0.0:0.0:1.0:0.0	.	117	Q9Y5I7	CLD16_HUMAN	L	117	ENSP00000264734:W117L	ENSP00000264734:W117L	W	+	2	0	CLDN16	191602845	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.028000	0.76470	2.824000	0.97209	0.650000	0.86243	TGG	.	.		0.478	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580	
CCDC50	152137	hgsc.bcm.edu	37	3	191078935	191078935	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:191078935A>G	ENST00000392455.3	+	4	915	c.317A>G	c.(316-318)gAg>gGg	p.E106G	CCDC50_ENST00000392456.3_Missense_Mutation_p.E106G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	106						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CGCATTCAGGAGAAGAAGGAT	0.448																																					p.E106G		Atlas-SNP	.											.	CCDC50	39	.	0			c.A317G						.						89.0	84.0	86.0					3																	191078935		2203	4300	6503	SO:0001583	missense	152137	exon4			TTCAGGAGAAGAA	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.317A>G	chr3.hg19:g.191078935A>G	ENSP00000376249:p.Glu106Gly	442.0	0.0		384.0	157.0	NM_174908	Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	hg19	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586818	0.86851	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.63255	-0.03;-0.03	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.78049	2.395	0.48975	D	0.999739	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.973	T	0.81551	-0.0881	10	0.66056	D	0.02	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	106;106	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	G	106	ENSP00000376249:E106G;ENSP00000376250:E106G	ENSP00000376249:E106G	E	+	2	0	CCDC50	192561629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.362000	0.79507	2.266000	0.75297	0.533000	0.62120	GAG	.	.		0.448	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
ATP13A4	84239	hgsc.bcm.edu	37	3	193128796	193128796	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:193128796A>G	ENST00000342695.4	-	28	3594	c.3272T>C	c.(3271-3273)aTa>aCa	p.I1091T	ATP13A4_ENST00000400270.2_Missense_Mutation_p.I107T|ATP13A4_ENST00000392443.3_Missense_Mutation_p.I1072T|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1091						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAATTCTGGTATATCAGCAAA	0.303																																					p.I1091T		Atlas-SNP	.											.	ATP13A4	154	.	0			c.T3272C						.						98.0	100.0	99.0					3																	193128796		2203	4290	6493	SO:0001583	missense	84239	exon28			TCTGGTATATCAG	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3272T>C	chr3.hg19:g.193128796A>G	ENSP00000339182:p.Ile1091Thr	382.0	1.0		342.0	148.0	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662431	0.67700	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.50813	0.73;0.73;0.73	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000005	T	0.48840	0.1522	L	0.29908	0.895	0.80722	D	1	D	0.55605	0.972	P	0.57009	0.811	T	0.40346	-0.9568	10	0.31617	T	0.26	-19.4124	12.4535	0.55691	1.0:0.0:0.0:0.0	.	1091	Q4VNC1	AT134_HUMAN	T	107;1072;1091	ENSP00000383129:I107T;ENSP00000376238:I1072T;ENSP00000339182:I1091T	ENSP00000339182:I1091T	I	-	2	0	ATP13A4	194611490	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.930000	0.70104	1.879000	0.54435	0.459000	0.35465	ATA	.	.		0.303	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
ATP13A4	84239	hgsc.bcm.edu	37	3	193232491	193232491	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:193232491G>T	ENST00000342695.4	-	2	552	c.230C>A	c.(229-231)aCa>aAa	p.T77K	ATP13A4_ENST00000295548.3_Missense_Mutation_p.T77K|ATP13A4_ENST00000392443.3_Missense_Mutation_p.T77K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	77						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACTTACCGTTGTCCTCAGCAA	0.522																																					p.T77K		Atlas-SNP	.											.	ATP13A4	154	.	0			c.C230A						.						205.0	181.0	189.0					3																	193232491		2203	4300	6503	SO:0001583	missense	84239	exon2			ACCGTTGTCCTCA	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.230C>A	chr3.hg19:g.193232491G>T	ENSP00000339182:p.Thr77Lys	77.0	0.0		72.0	31.0	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577119	0.86645	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.29655	1.56;1.56;1.56	5.82	5.82	0.92795	.	0.196377	0.35936	N	0.002900	T	0.58764	0.2145	M	0.79475	2.455	0.43417	D	0.995567	D;D	0.69078	0.997;0.997	D;D	0.76071	0.984;0.987	T	0.56703	-0.7935	10	0.45353	T	0.12	-4.2854	18.6518	0.91433	0.0:0.0:1.0:0.0	.	77;77	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	K	77	ENSP00000376238:T77K;ENSP00000339182:T77K;ENSP00000295548:T77K	ENSP00000295548:T77K	T	-	2	0	ATP13A4	194715185	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.475000	0.73582	2.739000	0.93911	0.655000	0.94253	ACA	.	.		0.522	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
OPA1	4976	hgsc.bcm.edu	37	3	193336697	193336697	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:193336697G>C	ENST00000392438.3	+	5	830	c.596G>C	c.(595-597)gGa>gCa	p.G199A	OPA1_ENST00000361715.2_Missense_Mutation_p.G181A|OPA1_ENST00000361908.3_Missense_Mutation_p.G199A|OPA1_ENST00000361828.2_Missense_Mutation_p.G217A|OPA1_ENST00000361150.2_Missense_Mutation_p.G163A|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361510.2_Missense_Mutation_p.G217A	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	199					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGATCGTGGATCTGAAAGT	0.358																																					p.G217A		Atlas-SNP	.											.	OPA1	79	.	0			c.G650C						.						132.0	133.0	132.0					3																	193336697		2203	4300	6503	SO:0001583	missense	4976	exon6			ATCGTGGATCTGA	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.596G>C	chr3.hg19:g.193336697G>C	ENSP00000376233:p.Gly199Ala	72.0	0.0		59.0	20.0	NM_130837	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	hg19	CCDS43186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.404|9.404	1.078868|1.078868	0.20227|0.20227	.|.	.|.	ENSG00000198836|ENSG00000198836	ENST00000434811|ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000419435;ENST00000392436	.|D;D;D;D;D;D;D;T;T	.|0.94828	.|-3.06;-3.03;-3.11;-3.12;-3.06;-3.53;-2.94;1.9;-0.95	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|1.671300	.|0.03790	.|N	.|0.262771	D|D	0.89656|0.89656	0.6778|0.6778	N|N	0.17474|0.17474	0.49|0.49	0.39883|0.39883	D|D	0.973661|0.973661	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.001;0.001;0.001;0.001;0.001	T|T	0.63523|0.63523	-0.6618|-0.6618	5|10	.|0.07325	.|T	.|0.83	-23.436|-23.436	14.6908|14.6908	0.69085|0.69085	0.0:0.1441:0.8559:0.0|0.0:0.1441:0.8559:0.0	.|.	.|163;199;181;163;217;199;181;217	.|E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.|.;OPA1_HUMAN;.;.;.;.;.;.	H|A	117|199;199;217;181;217;163;163;75;217	.|ENSP00000354681:G199A;ENSP00000376233:G199A;ENSP00000355324:G217A;ENSP00000355311:G181A;ENSP00000354429:G217A;ENSP00000354781:G163A;ENSP00000376232:G163A;ENSP00000399877:G75A;ENSP00000376231:G217A	.|ENSP00000354781:G163A	D|G	+|+	1|2	0|0	OPA1|OPA1	194819391|194819391	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.253000|0.253000	0.25986|0.25986	3.104000|3.104000	0.50306|0.50306	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GAT|GGA	.	.		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
MUC4	4585	hgsc.bcm.edu	37	3	195511219	195511219	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:195511219G>A	ENST00000463781.3	-	2	7691	c.7232C>T	c.(7231-7233)aCa>aTa	p.T2411I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T2411I|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCGTGACCTGTGGATGCTGA	0.592																																					p.T2411I		Atlas-SNP	.											.	MUC4	1505	.	0			c.C7232T						.						40.0	41.0	41.0					3																	195511219		675	1589	2264	SO:0001583	missense	4585	exon2			TGACCTGTGGATG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7232C>T	chr3.hg19:g.195511219G>A	ENSP00000417498:p.Thr2411Ile	339.0	0.0		319.0	40.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	7.312	0.615209	0.14129	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37235	1.28;1.21	.	.	.	.	.	.	.	.	T	0.36963	0.0986	N	0.19112	0.55	0.09310	N	1	P	0.52170	0.951	D	0.65443	0.935	T	0.18461	-1.0336	7	.	.	.	.	6.6894	0.23163	2.0E-4:0.0:0.9998:0.0	.	2411	E7ESK3	.	I	2411	ENSP00000417498:T2411I;ENSP00000420243:T2411I	.	T	-	2	0	MUC4	196995614	0.003000	0.15002	0.009000	0.14445	0.020000	0.10135	1.016000	0.29976	0.482000	0.27582	0.000000	0.15137	ACA	.	.		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TNK2	10188	hgsc.bcm.edu	37	3	195594061	195594061	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:195594061C>A	ENST00000333602.6	-	13	3578	c.2961G>T	c.(2959-2961)caG>caT	p.Q987H	TNK2_ENST00000381916.2_Intron|TNK2_ENST00000392400.1_Missense_Mutation_p.Q987H|TNK2_ENST00000428187.1_Intron	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	987	UBA.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGCAGCCCTCTGCACGCTCC	0.682																																					p.Q987H		Atlas-SNP	.											.	TNK2	246	.	0			c.G2961T						.						40.0	45.0	44.0					3																	195594061		2202	4300	6502	SO:0001583	missense	10188	exon13			AGCCCTCTGCACG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2961G>T	chr3.hg19:g.195594061C>A	ENSP00000329425:p.Gln987His	209.0	0.0		187.0	84.0	NM_005781	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	hg19	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824029	0.50739	.	.	ENSG00000061938	ENST00000333602;ENST00000416152;ENST00000392400	T;T;T	0.75260	-0.92;1.89;-0.92	5.67	2.9	0.33743	.	.	.	.	.	T	0.78059	0.4224	L	0.57536	1.79	0.80722	D	1	P;D	0.57257	0.911;0.979	P;P	0.58331	0.594;0.837	T	0.76091	-0.3086	9	0.52906	T	0.07	.	8.1544	0.31160	0.0:0.6196:0.0:0.3804	.	987;514	Q07912;B3KXJ4	ACK1_HUMAN;.	H	987;556;987	ENSP00000329425:Q987H;ENSP00000398614:Q556H;ENSP00000376201:Q987H	ENSP00000329425:Q987H	Q	-	3	2	TNK2	197078458	0.977000	0.34250	1.000000	0.80357	0.999000	0.98932	0.893000	0.28336	0.753000	0.32945	0.655000	0.94253	CAG	.	.		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
RNF168	165918	hgsc.bcm.edu	37	3	196199329	196199329	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr3:196199329T>C	ENST00000318037.3	-	6	1671	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	359					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTGTCACCCCTGATGTGGGGG	0.458																																					p.S359S		Atlas-SNP	.											.	RNF168	49	.	0			c.A1077G						.						145.0	147.0	146.0					3																	196199329		2203	4300	6503	SO:0001819	synonymous_variant	165918	exon6			CACCCCTGATGTG	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1077A>G	chr3.hg19:g.196199329T>C		93.0	0.0		98.0	45.0	NM_152617	Q8NA67|Q96NS4	Silent	SNP	ENST00000318037.3	hg19	CCDS3317.1																																																																																			.	.		0.458	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
ZNF721	170960	hgsc.bcm.edu	37	4	436177	436177	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:436177T>C	ENST00000338977.5	-	2	2091	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.G693G			Q8TF20	ZN721_HUMAN	zinc finger protein 721	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGTTTTTCTCCAGTATGAA	0.403																																					p.K693K		Atlas-SNP	.											.	ZNF721	205	.	0			c.G2079G						.						81.0	86.0	84.0					4																	436177		2112	4257	6369	SO:0001819	synonymous_variant	170960	exon3			TTTTTCTCCAGTA	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2043A>G	chr4.hg19:g.436177T>C		119.0	0.0		93.0	31.0	NM_133474	Q69YG7	Silent	SNP	ENST00000338977.5	hg19																																																																																				.	.		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
PDE6B	5158	hgsc.bcm.edu	37	4	656968	656968	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:656968T>A	ENST00000496514.1	+	15	1933	c.1912T>A	c.(1912-1914)Tcg>Acg	p.S638T	PDE6B_ENST00000429163.2_Missense_Mutation_p.S359T|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.S638T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	638					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTTCCTGCTCTCGGAGGAGGT	0.622																																					p.S638T	GBM(71;463 1194 9848 25922 46834)	Atlas-SNP	.											.	PDE6B	80	.	0			c.T1912A						.						121.0	105.0	110.0					4																	656968		2203	4300	6503	SO:0001583	missense	5158	exon15			CTGCTCTCGGAGG	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1912T>A	chr4.hg19:g.656968T>A	ENSP00000420295:p.Ser638Thr	129.0	0.0		87.0	27.0	NM_001145291	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	T	9.884	1.202380	0.22121	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78481	-1.18;-1.18;-1.18	4.19	-1.36	0.09085	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	1.573410	0.03927	N	0.284615	T	0.65396	0.2687	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.50980	-0.8763	10	0.32370	T	0.25	.	15.8112	0.78565	0.0:0.0:0.8213:0.1787	.	638;638	P35913;P35913-2	PDE6B_HUMAN;.	T	638;638;359	ENSP00000255622:S638T;ENSP00000420295:S638T;ENSP00000406334:S359T	ENSP00000255622:S638T	S	+	1	0	PDE6B	646968	0.000000	0.05858	0.368000	0.25939	0.530000	0.34684	-1.181000	0.03085	-0.231000	0.09825	0.449000	0.29647	TCG	.	.		0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283	
HTT	3064	hgsc.bcm.edu	37	4	3189596	3189596	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:3189596A>T	ENST00000355072.5	+	39	5353	c.5208A>T	c.(5206-5208)ccA>ccT	p.P1736P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1736					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGAATTTGCCAGAAGAAACAT	0.378																																					p.P1736P		Atlas-SNP	.											.	HTT	221	.	0			c.A5208T						.						86.0	81.0	83.0					4																	3189596		1856	4102	5958	SO:0001819	synonymous_variant	3064	exon39			TTTGCCAGAAGAA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5208A>T	chr4.hg19:g.3189596A>T		50.0	0.0		18.0	13.0	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	hg19	CCDS43206.1																																																																																			.	.		0.378	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HGFAC	3083	hgsc.bcm.edu	37	4	3447852	3447852	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:3447852A>T	ENST00000382774.3	+	10	1301	c.1186A>T	c.(1186-1188)Agg>Tgg	p.R396W	HGFAC_ENST00000511533.1_Missense_Mutation_p.R403W	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	396					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCTGCGGCAGGAGGCACAA	0.677																																					p.R396W		Atlas-SNP	.											.	HGFAC	69	.	0			c.A1186T						.						22.0	23.0	23.0					4																	3447852		2200	4291	6491	SO:0001583	missense	3083	exon10			TGCGGCAGGAGGC	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1186A>T	chr4.hg19:g.3447852A>T	ENSP00000372224:p.Arg396Trp	127.0	0.0		83.0	41.0	NM_001528	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	hg19	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.415163	0.42817	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.93247	-3.19;-3.19	3.73	-0.707	0.11245	Peptidase cysteine/serine, trypsin-like (1);	0.549223	0.17419	N	0.174883	D	0.86410	0.5926	N	0.19112	0.55	0.22435	N	0.999105	D;P	0.54772	0.968;0.907	B;B	0.43809	0.432;0.225	T	0.80243	-0.1463	10	0.72032	D	0.01	.	9.943	0.41591	0.4923:0.5077:0.0:0.0	.	403;396	D6RAR4;Q04756	.;HGFA_HUMAN	W	396;403	ENSP00000372224:R396W;ENSP00000421801:R403W	ENSP00000372224:R396W	R	+	1	2	HGFAC	3417650	0.000000	0.05858	0.043000	0.18650	0.062000	0.15995	0.381000	0.20619	-0.280000	0.09154	0.533000	0.62120	AGG	.	.		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		
OTOP1	133060	hgsc.bcm.edu	37	4	4199319	4199319	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:4199319A>T	ENST00000296358.4	-	5	1266	c.1242T>A	c.(1240-1242)tgT>tgA	p.C414*		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	414					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCCTCAGCACAGAGGATGG	0.572																																					p.C414X		Atlas-SNP	.											.	OTOP1	118	.	0			c.T1242A						.						54.0	60.0	58.0					4																	4199319		2203	4300	6503	SO:0001587	stop_gained	133060	exon5			CTCAGCACAGAGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1242T>A	chr4.hg19:g.4199319A>T	ENSP00000296358:p.Cys414*	68.0	0.0		57.0	32.0	NM_177998	A1L476	Nonsense_Mutation	SNP	ENST00000296358.4	hg19	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018017	0.54576	.	.	ENSG00000163982	ENST00000296358	.	.	.	4.76	-7.17	0.01511	.	0.270316	0.44483	D	0.000443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	1.1779	14.5137	0.67804	0.4532:0.0:0.5468:0.0	.	.	.	.	X	414	.	ENSP00000296358:C414X	C	-	3	2	OTOP1	4250220	0.804000	0.28969	0.008000	0.14137	0.223000	0.24884	-0.007000	0.12810	-1.451000	0.01933	0.164000	0.16699	TGT	.	.		0.572	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
ZBTB49	166793	hgsc.bcm.edu	37	4	4304686	4304686	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:4304686A>G	ENST00000337872.4	+	3	1244	c.1123A>G	c.(1123-1125)Agg>Ggg	p.R375G	ZBTB49_ENST00000355834.3_Missense_Mutation_p.R375G|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGAGACGGAGAGGCCTGAAGA	0.458																																					p.R375G		Atlas-SNP	.											.	ZBTB49	63	.	0			c.A1123G						.						46.0	49.0	48.0					4																	4304686		2203	4300	6503	SO:0001583	missense	166793	exon3			ACGGAGAGGCCTG	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1123A>G	chr4.hg19:g.4304686A>G	ENSP00000338807:p.Arg375Gly	186.0	0.0		138.0	45.0	NM_145291	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	hg19	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405189	0.25378	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.15256	2.44;2.78	5.66	-10.1	0.00402	Aspartate carbamoyltransferase regulatory subunit, C-terminal (1);	0.655977	0.14264	N	0.330595	T	0.09512	0.0234	L	0.52364	1.645	0.09310	N	0.999998	B;B	0.28933	0.228;0.179	B;B	0.27796	0.083;0.052	T	0.06917	-1.0800	10	0.22706	T	0.39	.	6.4644	0.21973	0.2364:0.5197:0.1585:0.0853	.	375;375	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	G	375	ENSP00000348091:R375G;ENSP00000338807:R375G	ENSP00000338807:R375G	R	+	1	2	ZBTB49	4355587	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.391000	0.07323	-1.721000	0.01378	-1.271000	0.01417	AGG	.	.		0.458	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
SORCS2	57537	hgsc.bcm.edu	37	4	7730109	7730109	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:7730109A>G	ENST00000507866.2	+	22	3011	c.2902A>G	c.(2902-2904)Aag>Gag	p.K968E	SORCS2_ENST00000329016.9_Missense_Mutation_p.K796E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	968					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAGTTTTCCAAGGAGCTGGA	0.587																																					p.K968E		Atlas-SNP	.											.	SORCS2	98	.	0			c.A2902G						.						62.0	68.0	66.0					4																	7730109		1962	4141	6103	SO:0001583	missense	57537	exon22			TTTTCCAAGGAGC	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2902A>G	chr4.hg19:g.7730109A>G	ENSP00000422185:p.Lys968Glu	72.0	0.0		47.0	18.0	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	4.926	0.172121	0.09391	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.14144	2.53;2.54	4.1	2.85	0.33270	.	2.422050	0.02388	N	0.079407	T	0.16385	0.0394	L	0.53249	1.67	0.25691	N	0.985684	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.26677	-1.0096	10	0.32370	T	0.25	.	6.268	0.20939	0.7516:0.1614:0.0869:0.0	.	796;968	B5MED8;Q96PQ0	.;SORC2_HUMAN	E	968;796	ENSP00000422185:K968E;ENSP00000329124:K796E	ENSP00000329124:K796E	K	+	1	0	SORCS2	7781009	0.512000	0.26186	0.997000	0.53966	0.135000	0.20990	1.243000	0.32767	0.501000	0.28013	0.460000	0.39030	AAG	.	.		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
CD38	952	hgsc.bcm.edu	37	4	15850179	15850179	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:15850179A>T	ENST00000226279.3	+	8	994	c.857A>T	c.(856-858)cAg>cTg	p.Q286L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	286					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAGTTTCTTCAGTGTGTGAAA	0.428																																					p.Q286L		Atlas-SNP	.											.	CD38	36	.	0			c.A857T						.						156.0	130.0	139.0					4																	15850179		2203	4300	6503	SO:0001583	missense	952	exon8			TTCTTCAGTGTGT	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.857A>T	chr4.hg19:g.15850179A>T	ENSP00000226279:p.Gln286Leu	63.0	0.0		49.0	15.0	NM_001775	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	hg19	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454952	0.26161	.	.	ENSG00000004468	ENST00000226279	T	0.15372	2.43	4.95	3.78	0.43462	NAD(P)-binding domain (1);	0.247806	0.40908	D	0.001000	T	0.16385	0.0394	L	0.49513	1.565	0.09310	N	0.999995	P	0.45474	0.859	B	0.42422	0.387	T	0.10337	-1.0634	10	0.49607	T	0.09	-3.34	7.1939	0.25841	0.9013:0.0:0.0987:0.0	.	286	P28907	CD38_HUMAN	L	286	ENSP00000226279:Q286L	ENSP00000226279:Q286L	Q	+	2	0	CD38	15459277	0.929000	0.31497	0.002000	0.10522	0.002000	0.02628	3.287000	0.51732	1.032000	0.39892	0.528000	0.53228	CAG	.	.		0.428	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
PROM1	8842	hgsc.bcm.edu	37	4	16025970	16025970	+	Nonsense_Mutation	SNP	A	A	T	rs368213921		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:16025970A>T	ENST00000510224.1	-	7	890	c.642T>A	c.(640-642)taT>taA	p.Y214*	PROM1_ENST00000543373.1_Nonsense_Mutation_p.Y205*|PROM1_ENST00000508167.1_Nonsense_Mutation_p.Y205*|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000505450.1_Nonsense_Mutation_p.Y205*|PROM1_ENST00000447510.2_Nonsense_Mutation_p.Y214*|PROM1_ENST00000539194.1_Nonsense_Mutation_p.Y214*|PROM1_ENST00000540805.1_Nonsense_Mutation_p.Y214*			O43490	PROM1_HUMAN	prominin 1	214					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GGGCCAATATATATTTGATTT	0.348																																					p.Y214X		Atlas-SNP	.											.	PROM1	91	.	0			c.T642A						.						119.0	109.0	112.0					4																	16025970		1834	4096	5930	SO:0001587	stop_gained	8842	exon6			CAATATATATTTG	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.642T>A	chr4.hg19:g.16025970A>T	ENSP00000426809:p.Tyr214*	73.0	0.0		55.0	33.0	NM_006017	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Nonsense_Mutation	SNP	ENST00000510224.1	hg19	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	A	40	8.242865	0.98722	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.	.	.	4.6	-0.693	0.11298	.	0.064473	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.2213	9.6942	0.40147	0.6095:0.0:0.3905:0.0	.	.	.	.	X	214;214;214;205;205;214;205	.	ENSP00000415481:Y214X	Y	-	3	2	PROM1	15635068	0.117000	0.22190	0.000000	0.03702	0.234000	0.25298	0.337000	0.19841	-0.279000	0.09167	0.459000	0.35465	TAT	.	.		0.348	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
NCAPG	64151	hgsc.bcm.edu	37	4	17814020	17814020	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:17814020A>C	ENST00000251496.2	+	2	464	c.288A>C	c.(286-288)ttA>ttC	p.L96F	DCAF16_ENST00000382247.1_5'Flank|DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_5'Flank	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	96					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTGGCCTTTTAAATTATTTGT	0.368																																					p.L96F		Atlas-SNP	.											.	NCAPG	76	.	0			c.A288C						.						68.0	69.0	68.0					4																	17814020		2203	4300	6503	SO:0001583	missense	64151	exon2			CCTTTTAAATTAT	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.288A>C	chr4.hg19:g.17814020A>C	ENSP00000251496:p.Leu96Phe	70.0	0.0		47.0	20.0	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	hg19	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133591	0.77662	.	.	ENSG00000109805	ENST00000251496	T	0.35605	1.3	5.28	2.87	0.33458	Armadillo-type fold (1);	0.160448	0.43579	D	0.000557	T	0.46718	0.1407	M	0.78456	2.415	0.50632	D	0.999881	D	0.62365	0.991	P	0.57679	0.825	T	0.44128	-0.9348	10	0.45353	T	0.12	-9.0634	2.5665	0.04784	0.517:0.0:0.286:0.197	.	96	Q9BPX3	CND3_HUMAN	F	96	ENSP00000251496:L96F	ENSP00000251496:L96F	L	+	3	2	NCAPG	17423118	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.220000	0.51207	0.845000	0.35118	0.533000	0.62120	TTA	.	.		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
SLIT2	9353	hgsc.bcm.edu	37	4	20591288	20591288	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:20591288T>A	ENST00000504154.1	+	30	3362	c.3110T>A	c.(3109-3111)cTg>cAg	p.L1037Q	SLIT2_ENST00000273739.5_Missense_Mutation_p.L1050Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1033Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.L1029Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1037	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGGAGAAGCTGGACTTCTGT	0.493																																					p.L1037Q		Atlas-SNP	.											.	SLIT2	290	.	0			c.T3110A						.						145.0	117.0	127.0					4																	20591288		2203	4300	6503	SO:0001583	missense	9353	exon30			AGAAGCTGGACTT	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3110T>A	chr4.hg19:g.20591288T>A	ENSP00000422591:p.Leu1037Gln	96.0	0.0		86.0	34.0	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	hg19	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772174	0.90108	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.92699	-2.23;-2.23;-3.09;-2.23	5.42	5.42	0.78866	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	L	0.41492	1.28	0.80722	D	1	P;B	0.36909	0.573;0.415	B;B	0.37601	0.254;0.096	D	0.90196	0.4253	10	0.87932	D	0	.	15.7632	0.78103	0.0:0.0:0.0:1.0	.	1029;1037	O94813-3;O94813	.;SLIT2_HUMAN	Q	1029;1037;1050;1033;1033	ENSP00000427548:L1029Q;ENSP00000422591:L1037Q;ENSP00000273739:L1050Q;ENSP00000422261:L1033Q	ENSP00000273739:L1050Q	L	+	2	0	SLIT2	20200386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.847000	0.69451	2.179000	0.69175	0.533000	0.62120	CTG	.	.		0.493	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PCDH7	5099	hgsc.bcm.edu	37	4	30724512	30724512	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:30724512T>C	ENST00000361762.2	+	1	2476	c.1468T>C	c.(1468-1470)Tcg>Ccg	p.S490P	PCDH7_ENST00000543491.1_Missense_Mutation_p.S490P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	490	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTGCACACCTCGACCCCTCT	0.612																																					p.S490P		Atlas-SNP	.											.	PCDH7	215	.	0			c.T1468C						.						96.0	74.0	81.0					4																	30724512		2203	4300	6503	SO:0001583	missense	5099	exon1			CACACCTCGACCC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1468T>C	chr4.hg19:g.30724512T>C	ENSP00000355243:p.Ser490Pro	57.0	0.0		45.0	22.0	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	hg19	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.40|16.40	3.113015|3.113015	0.56398|0.56398	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.52295	.|0.67;0.67	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.70718|0.70718	0.3256|0.3256	M|M	0.82630|0.82630	2.6|2.6	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.72982	.|0.974;0.974;0.979	T|T	0.76162|0.76162	-0.3060|-0.3060	5|9	.|0.87932	.|D	.|0	.|.	15.3401|15.3401	0.74290|0.74290	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|490;443;490	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	P|P	179|490;490;443	.|ENSP00000355243:S490P;ENSP00000441802:S490P	.|ENSP00000330302:S443P	L|S	+|+	2|1	0|0	PCDH7|PCDH7	30333610|30333610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	6.093000|6.093000	0.71422|0.71422	2.208000|2.208000	0.71279|0.71279	0.533000|0.533000	0.62120|0.62120	CTC|TCG	.	.		0.612	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PGM2	55276	hgsc.bcm.edu	37	4	37836307	37836307	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:37836307A>G	ENST00000381967.4	+	3	417	c.317A>G	c.(316-318)gAc>gGc	p.D106G	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	106					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATCAGTTTTGACGCCCGAGCT	0.338																																					p.D106G		Atlas-SNP	.											.	PGM2	45	.	0			c.A317G						.						89.0	100.0	96.0					4																	37836307		2203	4300	6503	SO:0001583	missense	55276	exon3			GTTTTGACGCCCG	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.317A>G	chr4.hg19:g.37836307A>G	ENSP00000371393:p.Asp106Gly	426.0	0.0		377.0	182.0	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	hg19	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403745	0.62288	.	.	ENSG00000169299	ENST00000381967	D	0.97575	-4.44	6.05	6.05	0.98169	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.087163	0.85682	D	0.000000	D	0.99302	0.9756	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98366	1.0551	10	0.87932	D	0	-0.9632	16.5932	0.84781	1.0:0.0:0.0:0.0	.	106	Q96G03	PGM2_HUMAN	G	106	ENSP00000371393:D106G	ENSP00000371393:D106G	D	+	2	0	PGM2	37512702	1.000000	0.71417	0.979000	0.43373	0.056000	0.15407	8.875000	0.92372	2.320000	0.78422	0.528000	0.53228	GAC	.	.		0.338	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
TLR10	81793	hgsc.bcm.edu	37	4	38774823	38774823	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:38774823C>G	ENST00000308973.4	-	4	2994	c.2389G>C	c.(2389-2391)Gag>Cag	p.E797Q	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.E797Q|TLR10_ENST00000506111.1_Missense_Mutation_p.E797Q|TLR10_ENST00000508334.1_Missense_Mutation_p.E797Q	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	797					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCTCGAGACTCTTCATTTAAC	0.418																																					p.E797Q		Atlas-SNP	.											.	TLR10	87	.	0			c.G2389C						.						85.0	83.0	84.0					4																	38774823		2203	4300	6503	SO:0001583	missense	81793	exon2			GAGACTCTTCATT	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2389G>C	chr4.hg19:g.38774823C>G	ENSP00000308925:p.Glu797Gln	76.0	0.0		74.0	20.0	NM_001017388	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	hg19	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133530	0.21041	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	4.99	3.23	0.37069	.	1.046150	0.07592	N	0.922093	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.39418	-0.9615	10	0.32370	T	0.25	.	6.1107	0.20100	0.0:0.6552:0.1719:0.1728	.	797	Q9BXR5	TLR10_HUMAN	Q	797	ENSP00000308925:E797Q;ENSP00000421483:E797Q;ENSP00000354459:E797Q;ENSP00000424923:E797Q	ENSP00000308925:E797Q	E	-	1	0	TLR10	38451218	0.000000	0.05858	0.007000	0.13788	0.024000	0.10985	0.151000	0.16283	0.583000	0.29574	0.650000	0.86243	GAG	.	.		0.418	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
SHISA3	152573	hgsc.bcm.edu	37	4	42403330	42403330	+	Silent	SNP	C	C	A	rs377514630		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:42403330C>A	ENST00000319234.4	+	2	797	c.579C>A	c.(577-579)ccC>ccA	p.P193P		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	193	Poly-Pro.				multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCTCACCGCCCCCGCCATACA	0.657																																					p.P193P		Atlas-SNP	.											.	SHISA3	27	.	0			c.C579A						.						45.0	45.0	45.0					4																	42403330		2203	4300	6503	SO:0001819	synonymous_variant	152573	exon2			ACCGCCCCCGCCA	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.579C>A	chr4.hg19:g.42403330C>A		57.0	0.0		63.0	32.0	NM_001080505	A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	hg19	CCDS33979.1																																																																																			.	.		0.657	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505	
ATP8A1	10396	hgsc.bcm.edu	37	4	42446619	42446619	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:42446619T>C	ENST00000381668.5	-	32	3222	c.2991A>G	c.(2989-2991)ggA>ggG	p.G997G	ATP8A1_ENST00000264449.10_Silent_p.G982G|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	997					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATGTCTCCAATCCAGCTTTCA	0.363																																					p.G997G		Atlas-SNP	.											.	ATP8A1	206	.	0			c.A2991G						.						130.0	117.0	122.0					4																	42446619		2203	4300	6503	SO:0001819	synonymous_variant	10396	exon32			CTCCAATCCAGCT	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2991A>G	chr4.hg19:g.42446619T>C		95.0	0.0		58.0	26.0	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	hg19	CCDS3466.1																																																																																			.	.		0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
GRXCR1	389207	hgsc.bcm.edu	37	4	43022411	43022411	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:43022411T>A	ENST00000399770.2	+	3	668	c.668T>A	c.(667-669)cTg>cAg	p.L223Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	223	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TCAGGAGAACTGCAAGACATC	0.308																																					p.L223Q		Atlas-SNP	.											.	GRXCR1	78	.	0			c.T668A						.						84.0	81.0	82.0					4																	43022411		1840	4077	5917	SO:0001583	missense	389207	exon3			GAGAACTGCAAGA		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.668T>A	chr4.hg19:g.43022411T>A	ENSP00000382670:p.Leu223Gln	277.0	0.0		212.0	87.0	NM_001080476		Missense_Mutation	SNP	ENST00000399770.2	hg19	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399797	0.83120	.	.	ENSG00000215203	ENST00000399770	D	0.86497	-2.13	5.79	5.79	0.91817	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.56097	U	0.000027	D	0.95149	0.8428	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96228	0.9166	10	0.87932	D	0	-11.4336	15.3062	0.73992	0.0:0.0:0.0:1.0	.	223	A8MXD5	GRCR1_HUMAN	Q	223	ENSP00000382670:L223Q	ENSP00000382670:L223Q	L	+	2	0	GRXCR1	42717168	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.644000	0.83416	2.213000	0.71641	0.397000	0.26171	CTG	.	.		0.308	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476	
GABRG1	2565	hgsc.bcm.edu	37	4	46066495	46066495	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:46066495G>T	ENST00000295452.4	-	5	755	c.588C>A	c.(586-588)ccC>ccA	p.P196P		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	196					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTCATCCATGGGAAAGTTAT	0.269																																					p.P196P		Atlas-SNP	.											.	GABRG1	172	.	0			c.C588A						.						70.0	78.0	75.0					4																	46066495		2202	4289	6491	SO:0001819	synonymous_variant	2565	exon5			ATCCATGGGAAAG	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.588C>A	chr4.hg19:g.46066495G>T		403.0	0.0		328.0	137.0	NM_173536	Q5H9T8	Silent	SNP	ENST00000295452.4	hg19	CCDS3470.1																																																																																			.	.		0.269	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GABRG1	2565	hgsc.bcm.edu	37	4	46099287	46099287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:46099287C>A	ENST00000295452.4	-	2	351	c.184G>T	c.(184-186)Gga>Tga	p.G62*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	62					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G62*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGATATCTCCTTCATGAATT	0.363																																					p.G62X		Atlas-SNP	.											.	GABRG1	172	.	1	Substitution - Nonsense(1)	lung(1)	c.G184T						.						180.0	180.0	180.0					4																	46099287		2203	4300	6503	SO:0001587	stop_gained	2565	exon2			TATCTCCTTCATG	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.184G>T	chr4.hg19:g.46099287C>A	ENSP00000295452:p.Gly62*	204.0	1.0		126.0	66.0	NM_173536	Q5H9T8	Nonsense_Mutation	SNP	ENST00000295452.4	hg19	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060915	0.97246	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	5.07	4.23	0.50019	.	0.113938	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.1223	0.36795	0.0:0.8361:0.0:0.1639	.	.	.	.	X	62	.	ENSP00000295452:G62X	G	-	1	0	GABRG1	45794044	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.522000	0.53480	1.363000	0.46019	-0.140000	0.14226	GGA	.	.		0.363	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
SGCB	6443	hgsc.bcm.edu	37	4	52890300	52890300	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:52890300A>C	ENST00000381431.5	-	6	1002	c.780T>G	c.(778-780)tcT>tcG	p.S260S	SGCB_ENST00000535450.1_Silent_p.S190S	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	260	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGACCATCACAGATCCATTTA	0.458																																					p.S260S		Atlas-SNP	.											.	SGCB	35	.	0			c.T780G						.						92.0	86.0	88.0					4																	52890300		2203	4300	6503	SO:0001819	synonymous_variant	6443	exon6			CATCACAGATCCA	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.780T>G	chr4.hg19:g.52890300A>C		80.0	0.0		84.0	34.0	NM_000232	B7Z635|O00661	Silent	SNP	ENST00000381431.5	hg19	CCDS3488.1																																																																																			.	.		0.458	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
SCFD2	152579	hgsc.bcm.edu	37	4	53786893	53786893	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:53786893T>A	ENST00000401642.3	-	6	1839	c.1706A>T	c.(1705-1707)cAg>cTg	p.Q569L	SCFD2_ENST00000388940.4_Splice_Site_p.Q569L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	569					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TATACTTGCCTGGTGGGTATG	0.398																																					p.Q569L		Atlas-SNP	.											.	SCFD2	78	.	0			c.A1706T						.						83.0	87.0	86.0					4																	53786893		2203	4300	6503	SO:0001630	splice_region_variant	152579	exon6			CTTGCCTGGTGGG	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1707+1A>T	chr4.hg19:g.53786893T>A		58.0	0.0		41.0	12.0	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	hg19	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925677	0.73213	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.79454	-0.6;-1.27	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	L	0.47716	1.5	0.24607	N	0.993742	D;D	0.59357	0.981;0.985	D;D	0.74023	0.969;0.982	T	0.72890	-0.4155	10	0.33141	T	0.24	.	11.1967	0.48717	0.0:0.0:0.0:1.0	.	569;569	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	L	569	ENSP00000384182:Q569L;ENSP00000373592:Q569L	ENSP00000373592:Q569L	Q	-	2	0	SCFD2	53481650	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.416000	0.59815	2.208000	0.71279	0.459000	0.35465	CAG	.	.		0.398	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	Missense_Mutation
PDGFRA	5156	hgsc.bcm.edu	37	4	55138653	55138653	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:55138653G>C	ENST00000257290.5	+	9	1661	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	444	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GCCGCTTCCTGATATTGAGTG	0.453			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.D444H	Pancreas(151;208 1913 7310 23853 37092)	Atlas-SNP	.		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	PDGFRA	1583	.	0			c.G1330C						.						147.0	137.0	140.0					4																	55138653		2203	4300	6503	SO:0001583	missense	5156	exon9	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	CTTCCTGATATTG	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1330G>C	chr4.hg19:g.55138653G>C	ENSP00000257290:p.Asp444His	79.0	0.0		53.0	26.0	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	hg19	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	9.627	1.135456	0.21123	.	.	ENSG00000134853	ENST00000257290	T	0.75050	-0.9	6.17	4.44	0.53790	Immunoglobulin-like fold (1);	1.075190	0.07507	U	0.908177	T	0.69342	0.3100	L	0.46157	1.445	0.34455	D	0.701073	B;P	0.35208	0.021;0.49	B;B	0.30572	0.038;0.117	T	0.64032	-0.6502	10	0.37606	T	0.19	.	13.3275	0.60467	0.1288:0.0:0.8712:0.0	.	444;444	P16234-3;P16234	.;PGFRA_HUMAN	H	444	ENSP00000257290:D444H	ENSP00000257290:D444H	D	+	1	0	PDGFRA	54833410	0.964000	0.33143	0.016000	0.15963	0.006000	0.05464	2.632000	0.46511	0.911000	0.36747	0.655000	0.94253	GAT	.	.		0.453	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KDR	3791	hgsc.bcm.edu	37	4	55984967	55984967	+	Splice_Site	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:55984967C>T	ENST00000263923.4	-	3	457	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	54	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTCTGTCCCCTGAAAAATT	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.R54R		Atlas-SNP	.		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	KDR	307	.	0			c.G162A						.						70.0	72.0	71.0					4																	55984967		2203	4300	6503	SO:0001630	splice_region_variant	3791	exon3			CTGTCCCCTGAAA	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.162-1G>A	chr4.hg19:g.55984967C>T		121.0	0.0		115.0	60.0	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	hg19	CCDS3497.1																																																																																			.	.		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Silent
LPHN3	23284	hgsc.bcm.edu	37	4	62758609	62758609	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:62758609A>T	ENST00000514591.1	+	9	1841	c.1512A>T	c.(1510-1512)cgA>cgT	p.R504R	LPHN3_ENST00000506720.1_Silent_p.R572R|LPHN3_ENST00000507625.1_Silent_p.R572R|LPHN3_ENST00000506746.1_Silent_p.R572R|LPHN3_ENST00000514157.1_Silent_p.R504R|LPHN3_ENST00000504896.1_Silent_p.R504R|LPHN3_ENST00000512091.2_Silent_p.R504R|LPHN3_ENST00000506700.1_Silent_p.R504R|LPHN3_ENST00000508693.1_Silent_p.R572R|LPHN3_ENST00000545650.1_Silent_p.R504R|LPHN3_ENST00000507164.1_Silent_p.R572R|LPHN3_ENST00000511324.1_Silent_p.R572R|LPHN3_ENST00000509896.1_Silent_p.R572R|LPHN3_ENST00000508946.1_Silent_p.R504R|LPHN3_ENST00000514996.1_Silent_p.R504R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	504					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGGAAGCCCGAGAAATCATGT	0.493																																					p.R504R		Atlas-SNP	.											.	LPHN3	800	.	0			c.A1512T						.						62.0	59.0	60.0					4																	62758609		1947	4148	6095	SO:0001819	synonymous_variant	23284	exon7			AGCCCGAGAAATC	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1512A>T	chr4.hg19:g.62758609A>T		99.0	0.0		59.0	26.0	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	hg19	CCDS54768.1																																																																																			.	.		0.493	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
UBA6	55236	hgsc.bcm.edu	37	4	68506897	68506897	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:68506897T>C	ENST00000322244.5	-	18	1585	c.1526A>G	c.(1525-1527)cAg>cGg	p.Q509R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	509					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATAGGAACTGTCTATTTAA	0.279																																					p.Q509R		Atlas-SNP	.											.	UBA6	98	.	0			c.A1526G						.						168.0	192.0	184.0					4																	68506897		2203	4291	6494	SO:0001583	missense	55236	exon18			AGGAACTGTCTAT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1526A>G	chr4.hg19:g.68506897T>C	ENSP00000313454:p.Gln509Arg	96.0	0.0		85.0	46.0	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	hg19	CCDS3516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.662276|4.662276	0.88251|0.88251	.|.	.|.	ENSG00000033178|ENSG00000033178	ENST00000322244|ENST00000505673	T|.	0.60672|.	0.17|.	5.63|5.63	5.63|5.63	0.86233|0.86233	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89389|0.89389	0.6701|0.6701	H|H	0.98738|0.98738	4.315|4.315	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93653|0.93653	0.6975|0.6975	10|5	0.87932|.	D|.	0|.	-34.1411|-34.1411	15.8201|15.8201	0.78633|0.78633	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	509|.	A0AVT1|.	UBA6_HUMAN|.	R|G	509|43	ENSP00000313454:Q509R|.	ENSP00000313454:Q509R|.	Q|S	-|-	2|1	0|0	UBA6|UBA6	68189492|68189492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.477000|7.477000	0.81069|0.81069	2.134000|2.134000	0.65973|0.65973	0.482000|0.482000	0.46254|0.46254	CAG|AGT	.	.		0.279	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11A	339967	hgsc.bcm.edu	37	4	68789885	68789885	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:68789885C>A	ENST00000334830.7	-	6	1237		c.e6-1		UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Splice_Site|TMPRSS11A_ENST00000396188.2_Splice_Site			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A						cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GAGCTCATTGCTGAAAAAGAA	0.338																																					.	NSCLC(26;2 894 10941 14480 22546)	Atlas-SNP	.											.	TMPRSS11A	74	.	0			c.482-1G>T						.						152.0	165.0	160.0					4																	68789885		2203	4300	6503	SO:0001630	splice_region_variant	339967	exon7			TCATTGCTGAAAA	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.491-1G>T	chr4.hg19:g.68789885C>A		93.0	0.0		52.0	16.0	NM_001114387	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Splice_Site	SNP	ENST00000334830.7	hg19	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494115	0.64186	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5995	0.62011	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11A	68472480	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.269000	0.43346	2.277000	0.76020	0.655000	0.94253	.	.	.		0.338	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	Intron
CSN3	1448	hgsc.bcm.edu	37	4	71113535	71113535	+	Splice_Site	SNP	G	G	T	rs552991081	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:71113535G>T	ENST00000304954.3	+	3	141	c.55G>T	c.(55-57)Gct>Tct	p.A19S		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	163					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AACTCCCCAGGCTGTGGAGGT	0.299																																					p.A19S		Atlas-SNP	.											.	CSN3	43	.	0			c.G55T						.						43.0	44.0	44.0					4																	71113535		2203	4297	6500	SO:0001630	splice_region_variant	1448	exon3			CCCCAGGCTGTGG	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.55-1G>T	chr4.hg19:g.71113535G>T		318.0	0.0		278.0	85.0	NM_005212	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	hg19	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	G	9.232	1.035999	0.19590	.	.	ENSG00000171209	ENST00000304954	T	0.30981	1.51	4.18	2.46	0.29980	.	0.263731	0.27092	N	0.020979	T	0.18718	0.0449	L	0.43152	1.355	0.28221	N	0.926521	P	0.37781	0.608	B	0.28638	0.092	T	0.10268	-1.0637	9	.	.	.	-5.5043	6.808	0.23788	0.2106:0.0:0.7894:0.0	.	19	P07498	CASK_HUMAN	S	19	ENSP00000304822:A19S	.	A	+	1	0	CSN3	71148124	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	0.988000	0.29616	0.720000	0.32209	0.585000	0.79938	GCT	.	.		0.299	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212	Missense_Mutation
RUFY3	22902	hgsc.bcm.edu	37	4	71629350	71629350	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:71629350A>T	ENST00000226328.4	+	3	997	c.434A>T	c.(433-435)gAg>gTg	p.E145V	RUFY3_ENST00000381006.3_Missense_Mutation_p.E145V|RUFY3_ENST00000417478.2_Missense_Mutation_p.E205V|RUFY3_ENST00000502653.1_Missense_Mutation_p.E92V|RUFY3_ENST00000536664.1_Missense_Mutation_p.E129V	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	145	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			gaagccgcagagataacagca	0.383																																					p.E205V		Atlas-SNP	.											.	RUFY3	61	.	0			c.A614T						.						37.0	40.0	39.0					4																	71629350		2201	4298	6499	SO:0001583	missense	22902	exon3			CCGCAGAGATAAC	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.434A>T	chr4.hg19:g.71629350A>T	ENSP00000226328:p.Glu145Val	400.0	0.0		314.0	160.0	NM_001130709	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	hg19	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659667	0.67586	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.77	4.77	0.60923	RUN (2);	0.094727	0.64402	D	0.000001	T	0.44519	0.1297	M	0.67397	2.05	0.80722	D	1	B;P;P;B	0.41569	0.433;0.755;0.476;0.103	B;P;B;B	0.49140	0.234;0.601;0.327;0.346	T	0.48456	-0.9034	10	0.87932	D	0	-4.216	14.5812	0.68292	1.0:0.0:0.0:0.0	.	129;145;145;205	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	V	81;205;145;145;129;81;92	ENSP00000426734:E81V;ENSP00000399771:E205V;ENSP00000370394:E145V;ENSP00000226328:E145V;ENSP00000443652:E129V;ENSP00000425574:E81V;ENSP00000425400:E92V	ENSP00000226328:E145V	E	+	2	0	RUFY3	71848214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	1.917000	0.55516	0.482000	0.46254	GAG	.	.		0.383	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961	
NPFFR2	10886	hgsc.bcm.edu	37	4	72994372	72994372	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:72994372A>T	ENST00000308744.6	+	2	468	c.370A>T	c.(370-372)Aca>Tca	p.T124S	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.T25S|NPFFR2_ENST00000358749.3_Missense_Mutation_p.T22S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	124					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGTCAATGACACAAAGCATCA	0.363																																					p.T124S		Atlas-SNP	.											.	NPFFR2	98	.	0			c.A370T						.						124.0	110.0	115.0					4																	72994372		2203	4300	6503	SO:0001583	missense	10886	exon2			AATGACACAAAGC	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.370A>T	chr4.hg19:g.72994372A>T	ENSP00000307822:p.Thr124Ser	83.0	0.0		79.0	36.0	NM_004885	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	hg19	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	9.583	1.124187	0.20959	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.36878	1.23;1.23;1.23	5.9	5.9	0.94986	.	0.120575	0.38897	N	0.001529	T	0.19765	0.0475	N	0.05031	-0.125	0.19945	N	0.999948	B;B	0.28605	0.035;0.217	B;B	0.24974	0.041;0.057	T	0.13045	-1.0524	10	0.18710	T	0.47	.	15.9936	0.80225	1.0:0.0:0.0:0.0	.	25;124	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	S	124;25;22	ENSP00000307822:T124S;ENSP00000379321:T25S;ENSP00000351599:T22S	ENSP00000307822:T124S	T	+	1	0	NPFFR2	73213236	0.948000	0.32251	0.279000	0.24732	0.095000	0.18619	2.791000	0.47829	2.251000	0.74343	0.528000	0.53228	ACA	.	.		0.363	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
ADAMTS3	9508	hgsc.bcm.edu	37	4	73414452	73414452	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:73414452T>C	ENST00000286657.4	-	3	283	c.247A>G	c.(247-249)Aac>Gac	p.N83D	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	83					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCGTGATGTTAAAGAACAAC	0.478																																					p.N83D	NSCLC(168;1941 2048 2918 13048 43078)	Atlas-SNP	.											.	ADAMTS3	164	.	0			c.A247G						.						103.0	97.0	99.0					4																	73414452		2203	4300	6503	SO:0001583	missense	9508	exon3			TGATGTTAAAGAA	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.247A>G	chr4.hg19:g.73414452T>C	ENSP00000286657:p.Asn83Asp	131.0	0.0		92.0	42.0	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811088	0.70797	.	.	ENSG00000156140	ENST00000286657	T	0.06294	3.32	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000001	T	0.26666	0.0652	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00601	-1.1650	10	0.56958	D	0.05	.	15.5164	0.75828	0.0:0.0:0.0:1.0	.	83	O15072	ATS3_HUMAN	D	83	ENSP00000286657:N83D	ENSP00000286657:N83D	N	-	1	0	ADAMTS3	73633316	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.944000	0.87722	2.308000	0.77769	0.523000	0.50628	AAC	.	.		0.478	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
CXCL1	2919	hgsc.bcm.edu	37	4	74735406	74735406	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:74735406C>A	ENST00000395761.3	+	2	188	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	41					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GGCCACTGAACTGCGCTGCCA	0.642																																					p.L41M		Atlas-SNP	.											.	CXCL1	6	.	0			c.C121A						.						77.0	87.0	84.0					4																	74735406		2203	4300	6503	SO:0001583	missense	2919	exon2			ACTGAACTGCGCT	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.121C>A	chr4.hg19:g.74735406C>A	ENSP00000379110:p.Leu41Met	153.0	0.0		134.0	54.0	NM_001511	Q9UCR7	Missense_Mutation	SNP	ENST00000395761.3	hg19	CCDS47074.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045786	0.36085	.	.	ENSG00000163739	ENST00000395761	T	0.37584	1.19	5.18	4.33	0.51752	Chemokine interleukin-8-like domain (3);	0.241648	0.36703	N	0.002458	T	0.66587	0.2804	M	0.92026	3.265	0.29328	N	0.866904	D	0.89917	1.0	D	0.97110	1.0	T	0.69636	-0.5092	10	0.87932	D	0	.	12.7671	0.57399	0.0:0.9128:0.0:0.0872	.	41	P09341	GROA_HUMAN	M	41	ENSP00000379110:L41M	ENSP00000379110:L41M	L	+	1	2	CXCL1	74954270	0.996000	0.38824	0.530000	0.27963	0.008000	0.06430	1.627000	0.37050	0.584000	0.29591	-0.797000	0.03246	CTG	.	.		0.642	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1		
C4orf26	152816	hgsc.bcm.edu	37	4	76489571	76489571	+	Nonsense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:76489571T>G	ENST00000311623.4	+	2	350	c.315T>G	c.(313-315)taT>taG	p.Y105*	C4orf26_ENST00000435974.2_Missense_Mutation_p.I120S	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	105						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGCCATTTTATTGGCCACACC	0.448																																					p.Y105X		Atlas-SNP	.											.	C4orf26	24	.	0			c.T315G						.						185.0	194.0	191.0					4																	76489571		2203	4300	6503	SO:0001587	stop_gained	152816	exon2			ATTTTATTGGCCA	AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.315T>G	chr4.hg19:g.76489571T>G	ENSP00000311307:p.Tyr105*	280.0	0.0		206.0	77.0	NM_178497	B4DTI3|E7ETQ0|Q8TEC3	Nonsense_Mutation	SNP	ENST00000311623.4	hg19	CCDS3569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.08|11.08	1.532425|1.532425	0.27387|0.27387	.|.	.|.	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|.	0.54675|.	0.56|.	4.72|4.72	-3.19|-3.19	0.05171|0.05171	.|.	.|3.823500	.|0.00541	.|N	.|0.000238	T|.	0.22282|.	0.0537|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.09377|.	0.004|.	T|.	0.09684|.	-1.0663|.	7|.	.|.	.|.	.|.	.|.	4.994|4.994	0.14230|0.14230	0.0:0.4126:0.2898:0.2976|0.0:0.4126:0.2898:0.2976	.|.	120|.	E7ETQ0|.	.|.	S|X	120|105	ENSP00000406925:I120S|.	.|.	I|Y	+|+	2|3	0|2	C4orf26|C4orf26	76708595|76708595	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.093000|0.093000	0.18481|0.18481	0.072000|0.072000	0.14617|0.14617	-0.346000|-0.346000	0.08312|0.08312	-0.248000|-0.248000	0.11899|0.11899	ATT|TAT	.	.		0.448	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
FRAS1	80144	hgsc.bcm.edu	37	4	79229364	79229364	+	Splice_Site	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:79229364G>T	ENST00000325942.6	+	15	2118		c.e15+1		FRAS1_ENST00000264899.6_Splice_Site|FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCTGTAGCGGTGAGTGCTGG	0.502																																					.		Atlas-SNP	.											.	FRAS1	779	.	0			c.1678+1G>T						.						73.0	82.0	79.0					4																	79229364		2171	4264	6435	SO:0001630	splice_region_variant	80144	exon15			GTAGCGGTGAGTG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1678+1G>T	chr4.hg19:g.79229364G>T		115.0	0.0		75.0	27.0	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000325942.6	hg19	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547451	0.65311	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000502446;ENST00000508900	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8072	0.85708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79448388	1.000000	0.71417	0.998000	0.56505	0.221000	0.24807	6.193000	0.72075	2.782000	0.95742	0.591000	0.81541	.	.	.		0.502	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		Intron
FRAS1	80144	hgsc.bcm.edu	37	4	79285157	79285157	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:79285157A>T	ENST00000325942.6	+	22	3111	c.2671A>T	c.(2671-2673)Agc>Tgc	p.S891C	FRAS1_ENST00000264895.6_Missense_Mutation_p.S891C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	891					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGCACCTGCAGCACCACCTG	0.532																																					p.S891C		Atlas-SNP	.											.	FRAS1	779	.	0			c.A2671T						.						71.0	75.0	74.0					4																	79285157		2088	4231	6319	SO:0001583	missense	80144	exon22			ACCTGCAGCACCA	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2671A>T	chr4.hg19:g.79285157A>T	ENSP00000326330:p.Ser891Cys	100.0	0.0		80.0	33.0	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	hg19	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.242286	0.39598	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.30448	1.53;1.53	5.45	3.1	0.35709	.	0.729377	0.13837	N	0.359333	T	0.45196	0.1330	M	0.77313	2.365	0.19775	N	0.99995	D;P	0.59767	0.986;0.892	P;P	0.54965	0.765;0.619	T	0.27123	-1.0083	10	0.54805	T	0.06	.	7.518	0.27612	0.8203:0.0:0.1797:0.0	.	891;891	E9PHH6;A2RRR8	.;.	C	891	ENSP00000326330:S891C;ENSP00000264895:S891C	ENSP00000264895:S891C	S	+	1	0	FRAS1	79504181	0.021000	0.18746	0.916000	0.36221	0.169000	0.22640	2.232000	0.43018	2.068000	0.61886	0.528000	0.53228	AGC	.	.		0.532	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	hgsc.bcm.edu	37	4	79458286	79458286	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:79458286T>A	ENST00000264895.6	+	72	11670	c.11230T>A	c.(11230-11232)Tac>Aac	p.Y3744N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3740					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGACAATCTACAATGAAGG	0.418																																					p.Y3744N		Atlas-SNP	.											.	FRAS1	779	.	0			c.T11230A						.						103.0	99.0	100.0					4																	79458286		1866	4110	5976	SO:0001583	missense	80144	exon72			ACAATCTACAATG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11230T>A	chr4.hg19:g.79458286T>A	ENSP00000264895:p.Tyr3744Asn	119.0	0.0		87.0	31.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.257344|4.257344	0.80246|0.80246	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.15952	.|2.38	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41328|0.41328	0.1154|0.1154	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.21143|0.21143	-1.0254|-1.0254	5|10	.|0.87932	.|D	.|0	.|.	16.371|16.371	0.83361|0.83361	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3744	.|E9PHH6	.|.	Q|N	1972|3744	.|ENSP00000264895:Y3744N	.|ENSP00000264895:Y3744N	L|Y	+|+	2|1	0|0	FRAS1|FRAS1	79677310|79677310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.581000|0.581000	0.36288|0.36288	7.898000|7.898000	0.87363|0.87363	2.267000|2.267000	0.75376|0.75376	0.477000|0.477000	0.44152|0.44152	CTA|TAC	.	.		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CCSER1	401145	hgsc.bcm.edu	37	4	91549369	91549369	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:91549369A>G	ENST00000509176.1	+	6	2206	c.1918A>G	c.(1918-1920)Aga>Gga	p.R640G	CCSER1_ENST00000432775.2_Missense_Mutation_p.R640G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R640G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	640																	AAAGATGAAGAGAGTTCTTCA	0.433																																					p.R640G		Atlas-SNP	.											.	.	.	.	0			c.A1918G						.						59.0	59.0	59.0					4																	91549369		1888	4118	6006	SO:0001583	missense	401145	exon6			ATGAAGAGAGTTC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1918A>G	chr4.hg19:g.91549369A>G	ENSP00000425040:p.Arg640Gly	146.0	0.0		117.0	64.0	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	hg19	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.474977	0.63737	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.69175	1.07;-0.38;1.07	5.03	5.03	0.67393	.	0.180091	0.46442	D	0.000296	T	0.78272	0.4257	M	0.62723	1.935	0.34136	D	0.66585	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.85066	0.0937	10	0.72032	D	0.01	-21.7208	12.0696	0.53609	0.8563:0.1437:0.0:0.0	.	640;640	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	G	640	ENSP00000425040:R640G;ENSP00000389283:R640G;ENSP00000329482:R640G	ENSP00000329482:R640G	R	+	1	2	FAM190A	91768392	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.354000	0.59417	2.199000	0.70637	0.528000	0.53228	AGA	.	.		0.433	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
GRID2	2895	hgsc.bcm.edu	37	4	94436432	94436432	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:94436432A>G	ENST00000282020.4	+	13	2321	c.2063A>G	c.(2062-2064)tAt>tGt	p.Y688C	GRID2_ENST00000510992.1_Missense_Mutation_p.Y593C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	688					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTGCGGTATATGAGCATGTC	0.468																																					p.Y688C		Atlas-SNP	.											.	GRID2	233	.	0			c.A2063G						.						90.0	81.0	84.0					4																	94436432		2203	4300	6503	SO:0001583	missense	2895	exon13			CGGTATATGAGCA	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2063A>G	chr4.hg19:g.94436432A>G	ENSP00000282020:p.Tyr688Cys	88.0	0.0		80.0	40.0	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.666051	0.67700	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27557	1.66;1.66	5.1	5.1	0.69264	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.58317	-0.7657	10	0.59425	D	0.04	.	15.1709	0.72872	1.0:0.0:0.0:0.0	.	593;688	E9PH24;O43424	.;GRID2_HUMAN	C	688;593	ENSP00000282020:Y688C;ENSP00000421257:Y593C	ENSP00000282020:Y688C	Y	+	2	0	GRID2	94655455	1.000000	0.71417	0.990000	0.47175	0.951000	0.60555	6.066000	0.71185	2.045000	0.60652	0.477000	0.44152	TAT	.	.		0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
ATOH1	474	hgsc.bcm.edu	37	4	94750985	94750985	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:94750985C>A	ENST00000306011.3	+	1	944	c.908C>A	c.(907-909)aCa>aAa	p.T303K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	303					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCGCCCTGACAGCGATGATG	0.592																																					p.T303K		Atlas-SNP	.											.	ATOH1	40	.	0			c.C908A						.						70.0	75.0	73.0					4																	94750985		2203	4300	6503	SO:0001583	missense	474	exon1			CCCTGACAGCGAT	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.908C>A	chr4.hg19:g.94750985C>A	ENSP00000302216:p.Thr303Lys	38.0	0.0		57.0	28.0	NM_005172	Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	hg19	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748453	0.49257	.	.	ENSG00000172238	ENST00000306011	D	0.97665	-4.48	4.4	3.55	0.40652	.	0.309061	0.30126	N	0.010358	D	0.90160	0.6925	N	0.14661	0.345	0.27653	N	0.947315	B	0.02656	0.0	B	0.04013	0.001	T	0.77122	-0.2704	10	0.05959	T	0.93	-6.4305	9.5226	0.39145	0.3843:0.6157:0.0:0.0	.	303	Q92858	ATOH1_HUMAN	K	303	ENSP00000302216:T303K	ENSP00000302216:T303K	T	+	2	0	ATOH1	94970008	0.963000	0.33076	0.992000	0.48379	0.960000	0.62799	2.111000	0.41883	1.058000	0.40530	0.643000	0.83706	ACA	.	.		0.592	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
SLC9B1	150159	hgsc.bcm.edu	37	4	103822469	103822469	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:103822469A>T	ENST00000296422.7	-	12	1494	c.1353T>A	c.(1351-1353)gcT>gcA	p.A451A	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	451					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTGTTTCTAGAGCCAGAGGAC	0.408																																					p.A451A		Atlas-SNP	.											.	.	.	.	0			c.T1353A						.						54.0	55.0	55.0					4																	103822469		2199	4276	6475	SO:0001819	synonymous_variant	150159	exon12			TTCTAGAGCCAGA	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1353T>A	chr4.hg19:g.103822469A>T		213.0	0.0		202.0	49.0	NM_139173	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	hg19	CCDS34041.1																																																																																			.	.		0.408	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
TBCK	93627	hgsc.bcm.edu	37	4	107154797	107154797	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:107154797T>A	ENST00000273980.5	-	17	1907	c.1460A>T	c.(1459-1461)cAt>cTt	p.H487L	TBCK_ENST00000432496.2_Missense_Mutation_p.H487L|TBCK_ENST00000394706.3_Missense_Mutation_p.H448L|TBCK_ENST00000361687.4_Missense_Mutation_p.H424L|TBCK_ENST00000394708.2_Missense_Mutation_p.H487L					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTACTTGGCATGAATAGCTCC	0.274																																					p.H487L		Atlas-SNP	.											.	TBCK	89	.	0			c.A1460T						.						58.0	56.0	56.0					4																	107154797		2201	4299	6500	SO:0001583	missense	93627	exon16			TTGGCATGAATAG		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1460A>T	chr4.hg19:g.107154797T>A	ENSP00000273980:p.His487Leu	281.0	0.0		244.0	117.0	NM_001163436		Missense_Mutation	SNP	ENST00000273980.5	hg19	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866012	0.51588	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000503516	T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21	5.64	5.64	0.86602	Rab-GAP/TBC domain (4);	0.105021	0.64402	D	0.000002	T	0.05135	0.0137	N	0.11106	0.095	0.41569	D	0.988672	B;B;B	0.21309	0.001;0.054;0.0	B;B;B	0.23574	0.001;0.047;0.003	T	0.22661	-1.0210	10	0.06365	T	0.9	.	15.8714	0.79122	0.0:0.0:0.0:1.0	.	487;448;424	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	L	487;487;424;448;487;17	ENSP00000273980:H487L;ENSP00000405847:H487L;ENSP00000355338:H424L;ENSP00000378196:H448L;ENSP00000378198:H487L;ENSP00000423834:H17L	ENSP00000273980:H487L	H	-	2	0	TBCK	107374246	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.034000	0.76511	2.144000	0.66660	0.533000	0.62120	CAT	.	.		0.274	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115	
ALPK1	80216	hgsc.bcm.edu	37	4	113303587	113303587	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:113303587A>T	ENST00000458497.1	+	4	434	c.155A>T	c.(154-156)cAg>cTg	p.Q52L	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q52L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	52							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACCCTGATCCAGGAGGCAAAG	0.483																																					p.Q52L		Atlas-SNP	.											.	ALPK1	125	.	0			c.A155T						.						76.0	69.0	71.0					4																	113303587		2203	4300	6503	SO:0001583	missense	80216	exon4			TGATCCAGGAGGC	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.155A>T	chr4.hg19:g.113303587A>T	ENSP00000398048:p.Gln52Leu	243.0	1.0		215.0	105.0	NM_001102406	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	hg19	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878499	0.72294	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.26810	1.71;1.71	5.63	5.63	0.86233	.	0.117523	0.64402	D	0.000016	T	0.48187	0.1486	M	0.72118	2.19	0.80722	D	1	D;P	0.65815	0.995;0.836	P;P	0.60682	0.878;0.526	T	0.51236	-0.8731	10	0.87932	D	0	-11.3802	15.839	0.78831	1.0:0.0:0.0:0.0	.	52;52	Q96QP1;B3KUH8	ALPK1_HUMAN;.	L	52;52;27	ENSP00000398048:Q52L;ENSP00000177648:Q52L	ENSP00000177648:Q52L	Q	+	2	0	ALPK1	113523036	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.638000	0.74309	2.130000	0.65690	0.533000	0.62120	CAG	.	.		0.483	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
ANK2	287	hgsc.bcm.edu	37	4	114278661	114278661	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:114278661A>G	ENST00000357077.4	+	38	8940	c.8887A>G	c.(8887-8889)Acc>Gcc	p.T2963A	ANK2_ENST00000264366.6_Missense_Mutation_p.T2930A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2963					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTATTCTGTTACCATCACATC	0.398																																					p.T2963A		Atlas-SNP	.											.	ANK2	576	.	0			c.A8887G						.						162.0	163.0	163.0					4																	114278661		2203	4300	6503	SO:0001583	missense	287	exon38			TCTGTTACCATCA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8887A>G	chr4.hg19:g.114278661A>G	ENSP00000349588:p.Thr2963Ala	114.0	0.0		87.0	39.0	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347691	0.24426	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66460	-0.2;-0.21	5.58	1.52	0.23074	.	0.655719	0.13928	N	0.353122	T	0.56775	0.2008	L	0.50333	1.59	0.09310	N	1	B;B	0.27068	0.104;0.167	B;B	0.28011	0.039;0.085	T	0.43212	-0.9405	9	.	.	.	.	8.2285	0.31584	0.3241:0.5821:0.0938:0.0	.	2930;2963	Q01484;Q01484-4	ANK2_HUMAN;.	A	2963;2930	ENSP00000349588:T2963A;ENSP00000264366:T2930A	.	T	+	1	0	ANK2	114498110	0.000000	0.05858	0.008000	0.14137	0.084000	0.17831	-0.326000	0.07965	0.032000	0.15435	0.533000	0.62120	ACC	.	.		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
NDST4	64579	hgsc.bcm.edu	37	4	115858495	115858495	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:115858495G>A	ENST00000264363.2	-	5	2064	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	462	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGAATGAAGCCCTTTCTGT	0.438																																					p.G462G		Atlas-SNP	.											.	NDST4	193	.	0			c.C1386T						.						181.0	168.0	173.0					4																	115858495		2203	4300	6503	SO:0001819	synonymous_variant	64579	exon5			AATGAAGCCCTTT	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1386C>T	chr4.hg19:g.115858495G>A		93.0	0.0		90.0	37.0	NM_022569	Q2KHM8	Silent	SNP	ENST00000264363.2	hg19	CCDS3706.1																																																																																			.	.		0.438	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
NDST4	64579	hgsc.bcm.edu	37	4	115997739	115997739	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:115997739T>C	ENST00000264363.2	-	2	1132	c.454A>G	c.(454-456)Aaa>Gaa	p.K152E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	152	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACACAGTATTTTTCTAAAAGC	0.333																																					p.K152E		Atlas-SNP	.											.	NDST4	193	.	0			c.A454G						.						58.0	64.0	62.0					4																	115997739		2203	4300	6503	SO:0001583	missense	64579	exon2			AGTATTTTTCTAA	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.454A>G	chr4.hg19:g.115997739T>C	ENSP00000264363:p.Lys152Glu	113.0	0.0		104.0	37.0	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410340	0.62399	.	.	ENSG00000138653	ENST00000264363	T	0.41758	0.99	5.04	3.83	0.44106	.	0.046195	0.85682	D	0.000000	T	0.61999	0.2392	M	0.90145	3.09	0.49582	D	0.999803	B	0.30068	0.267	P	0.45712	0.491	T	0.62882	-0.6760	10	0.48119	T	0.1	.	11.9126	0.52747	0.0:0.0:0.146:0.854	.	152	Q9H3R1	NDST4_HUMAN	E	152	ENSP00000264363:K152E	ENSP00000264363:K152E	K	-	1	0	NDST4	116217188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.140000	0.58031	0.734000	0.32515	0.482000	0.46254	AAA	.	.		0.333	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
NDST3	9348	hgsc.bcm.edu	37	4	119174753	119174753	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:119174753T>A	ENST00000296499.5	+	13	2902	c.2499T>A	c.(2497-2499)tcT>tcA	p.S833S		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	833	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAATGGATTCTGATGTAAGCA	0.328																																					p.S833S		Atlas-SNP	.											.	NDST3	107	.	0			c.T2499A						.						61.0	64.0	63.0					4																	119174753		2203	4298	6501	SO:0001819	synonymous_variant	9348	exon13			GGATTCTGATGTA	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2499T>A	chr4.hg19:g.119174753T>A		318.0	0.0		271.0	103.0	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	hg19	CCDS3708.1																																																																																			.	.		0.328	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
SEC24D	9871	hgsc.bcm.edu	37	4	119727008	119727008	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:119727008T>C	ENST00000280551.6	-	7	1141	c.903A>G	c.(901-903)atA>atG	p.I301M	SEC24D_ENST00000379735.5_Missense_Mutation_p.I302M|SEC24D_ENST00000419654.2_De_novo_Start_OutOfFrame			O94855	SC24D_HUMAN	SEC24 family member D	301					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTTGGTCTTGTATCATGCAAT	0.403																																					p.I301M		Atlas-SNP	.											.	SEC24D	96	.	0			c.A903G						.						165.0	149.0	154.0					4																	119727008		2203	4300	6503	SO:0001583	missense	9871	exon7			GTCTTGTATCATG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.903A>G	chr4.hg19:g.119727008T>C	ENSP00000280551:p.Ile301Met	28.0	0.0		44.0	20.0	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	hg19	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153878	0.57259	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.23348	1.91;1.91	5.2	-2.59	0.06209	.	0.105208	0.64402	D	0.000004	T	0.29223	0.0727	M	0.72894	2.215	0.80722	D	1	B;P	0.39404	0.081;0.672	B;P	0.48873	0.118;0.593	T	0.17561	-1.0365	10	0.72032	D	0.01	-10.6777	2.5766	0.04807	0.2252:0.0868:0.4597:0.2283	.	302;301	O94855-2;O94855	.;SC24D_HUMAN	M	301;302	ENSP00000280551:I301M;ENSP00000369059:I302M	ENSP00000280551:I301M	I	-	3	3	SEC24D	119946456	0.290000	0.24343	0.997000	0.53966	0.626000	0.37791	-0.774000	0.04684	-0.013000	0.14199	0.383000	0.25322	ATA	.	.		0.403	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
BBS7	55212	hgsc.bcm.edu	37	4	122756329	122756329	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:122756329T>C	ENST00000264499.4	-	14	1664	c.1481A>G	c.(1480-1482)cAt>cGt	p.H494R	BBS7_ENST00000506636.1_Missense_Mutation_p.H494R	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	494					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCTTTGATGGAGTGAAAG	0.378									Bardet-Biedl syndrome																												p.H494R		Atlas-SNP	.											.	BBS7	61	.	0			c.A1481G						.						216.0	198.0	204.0					4																	122756329		2203	4300	6503	SO:0001583	missense	55212	exon14	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	CTTTGATGGAGTG	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1481A>G	chr4.hg19:g.122756329T>C	ENSP00000264499:p.His494Arg	140.0	0.0		95.0	29.0	NM_018190	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	hg19	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607781	0.87258	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.98105	-4.72;-4.7	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	10	0.62326	D	0.03	-18.0253	15.2549	0.73576	0.0:0.0:0.0:1.0	.	494	Q8IWZ6	BBS7_HUMAN	R	494	ENSP00000264499:H494R;ENSP00000423626:H494R	ENSP00000264499:H494R	H	-	2	0	BBS7	122975779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.945000	0.87732	1.992000	0.58205	0.528000	0.53228	CAT	.	.		0.378	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
KIAA1109	84162	hgsc.bcm.edu	37	4	123113385	123113385	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:123113385A>T	ENST00000264501.4	+	11	1276	c.903A>T	c.(901-903)ggA>ggT	p.G301G	KIAA1109_ENST00000455637.1_Splice_Site_p.G301G|KIAA1109_ENST00000388738.3_Splice_Site_p.G301G			Q2LD37	K1109_HUMAN	KIAA1109	301					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAATATAGGACTTGTTCCGG	0.363																																					p.G301G		Atlas-SNP	.											.	KIAA1109	424	.	0			c.A903T						.						78.0	73.0	75.0					4																	123113385		1821	4075	5896	SO:0001630	splice_region_variant	84162	exon9			TATAGGACTTGTT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.902-1A>T	chr4.hg19:g.123113385A>T		95.0	0.0		110.0	54.0	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290807	0.40494	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.93	3.65	0.41850	.	.	.	.	.	T	0.43389	0.1245	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41070	-0.9529	4	.	.	.	.	0.621	0.00778	0.4694:0.1786:0.1741:0.1778	.	.	.	.	S	134	.	.	T	+	1	0	KIAA1109	123332835	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.530000	0.23036	1.081000	0.41110	0.460000	0.39030	ACT	.	.		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Silent
ADAD1	132612	hgsc.bcm.edu	37	4	123336766	123336766	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:123336766T>A	ENST00000296513.2	+	11	1667	c.1482T>A	c.(1480-1482)acT>acA	p.T494T	ADAD1_ENST00000388724.2_Silent_p.T483T|ADAD1_ENST00000388725.2_Silent_p.T476T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	494	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAAGATCACTGAAAGGTTAA	0.323																																					p.T494T		Atlas-SNP	.											.	ADAD1	94	.	0			c.T1482A						.						88.0	89.0	89.0					4																	123336766		2203	4300	6503	SO:0001819	synonymous_variant	132612	exon11			GATCACTGAAAGG	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1482T>A	chr4.hg19:g.123336766T>A		98.0	0.0		82.0	36.0	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	hg19	CCDS34058.1																																																																																			.	.		0.323	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
SPATA5	166378	hgsc.bcm.edu	37	4	123859404	123859404	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:123859404A>T	ENST00000274008.4	+	8	1527	c.1458A>T	c.(1456-1458)tcA>tcT	p.S486S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	486					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCATTGGTTCAGTAAGTATAG	0.383																																					p.S486S		Atlas-SNP	.											.	SPATA5	62	.	0			c.A1458T						.						181.0	181.0	181.0					4																	123859404		2203	4300	6503	SO:0001630	splice_region_variant	166378	exon8			TGGTTCAGTAAGT	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1458+1A>T	chr4.hg19:g.123859404A>T		80.0	0.0		52.0	17.0	NM_145207	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	hg19	CCDS3730.1																																																																																			.	.		0.383	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	Silent
FAT4	79633	hgsc.bcm.edu	37	4	126328165	126328165	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:126328165T>C	ENST00000394329.3	+	3	5451	c.5438T>C	c.(5437-5439)cTa>cCa	p.L1813P	FAT4_ENST00000335110.5_Missense_Mutation_p.L111P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1813	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTCACTGCTAGTTCGTGCT	0.468																																					p.L1813P		Atlas-SNP	.											.	FAT4	1752	.	0			c.T5438C						.						157.0	146.0	150.0					4																	126328165		2203	4300	6503	SO:0001583	missense	79633	exon3			CACTGCTAGTTCG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5438T>C	chr4.hg19:g.126328165T>C	ENSP00000377862:p.Leu1813Pro	117.0	0.0		80.0	12.0	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402048	0.62288	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01804	4.63;4.63	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.27861	U	0.017549	T	0.06416	0.0165	L	0.39566	1.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55496	-0.8132	10	0.30078	T	0.28	.	15.6769	0.77336	0.0:0.0:0.0:1.0	.	111;1813	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	P	1813;111	ENSP00000377862:L1813P;ENSP00000335169:L111P	ENSP00000335169:L111P	L	+	2	0	FAT4	126547615	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	5.909000	0.69923	2.157000	0.67596	0.528000	0.53228	CTA	.	.		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	hgsc.bcm.edu	37	4	134084265	134084265	+	Silent	SNP	C	C	A	rs151224823	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:134084265C>A	ENST00000264360.5	+	4	3757	c.2931C>A	c.(2929-2931)ggC>ggA	p.G977G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	977					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGTTCCTGGCATGGACTCTG	0.542																																					p.G977G		Atlas-SNP	.											.	PCDH10	290	.	0			c.C2931A						.						137.0	121.0	126.0					4																	134084265		2203	4300	6503	SO:0001819	synonymous_variant	57575	exon4			TCCTGGCATGGAC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2931C>A	chr4.hg19:g.134084265C>A		92.0	0.0		89.0	37.0	NM_032961	Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	hg19	CCDS34063.1																																																																																			.	C|0.998;G|0.002		0.542	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
ELMOD2	255520	hgsc.bcm.edu	37	4	141448650	141448650	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:141448650T>C	ENST00000323570.3	+	3	303		c.e3+2		ELMOD2_ENST00000511887.2_Missense_Mutation_p.V58A	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2						defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					AAGAATAAGGTAGGATAACAT	0.294																																					.		Atlas-SNP	.											.	ELMOD2	16	.	0			c.171+2T>C						.						40.0	43.0	42.0					4																	141448650		2199	4288	6487	SO:0001630	splice_region_variant	255520	exon3			ATAAGGTAGGATA	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.171+2T>C	chr4.hg19:g.141448650T>C		375.0	0.0		272.0	115.0	NM_153702	B2R712|D3DNZ0	Splice_Site	SNP	ENST00000323570.3	hg19	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.778779	0.70107	.	.	ENSG00000179387	ENST00000323570;ENST00000502397	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1249	0.65213	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELMOD2	141668100	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	4.575000	0.60908	2.283000	0.76528	0.533000	0.62120	.	.	.		0.294	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702	Intron
INPP4B	8821	hgsc.bcm.edu	37	4	143007366	143007366	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:143007366T>C	ENST00000513000.1	-	25	2851	c.2418A>G	c.(2416-2418)ctA>ctG	p.L806L	INPP4B_ENST00000509777.1_Silent_p.L806L|INPP4B_ENST00000508116.1_Silent_p.L806L|INPP4B_ENST00000308502.4_Silent_p.L806L|INPP4B_ENST00000262992.4_Silent_p.L806L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	806					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GGAGATTTTCTAGCAATGCTT	0.328																																					p.L806L		Atlas-SNP	.											.	INPP4B	132	.	0			c.A2418G						.						84.0	87.0	86.0					4																	143007366		2201	4297	6498	SO:0001819	synonymous_variant	8821	exon25			ATTTTCTAGCAAT	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2418A>G	chr4.hg19:g.143007366T>C		26.0	0.0		28.0	15.0	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	hg19	CCDS3757.1																																																																																			.	.		0.328	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
USP38	84640	hgsc.bcm.edu	37	4	144133531	144133531	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:144133531A>T	ENST00000307017.4	+	8	2064	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	USP38_ENST00000510377.1_Nonsense_Mutation_p.R520*	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	520	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTTTACTCCCAGATCACAGCA	0.378																																					p.R520X		Atlas-SNP	.											.	USP38	92	.	0			c.A1558T						.						115.0	114.0	114.0					4																	144133531		2203	4300	6503	SO:0001587	stop_gained	84640	exon8			ACTCCCAGATCAC	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1558A>T	chr4.hg19:g.144133531A>T	ENSP00000303434:p.Arg520*	65.0	0.0		73.0	34.0	NM_032557	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Nonsense_Mutation	SNP	ENST00000307017.4	hg19	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	43	10.066890	0.99329	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	.	.	.	5.47	2.79	0.32731	.	0.112679	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-11.437	13.0103	0.58727	0.5756:0.4244:0.0:0.0	.	.	.	.	X	520	.	ENSP00000303434:R520X	R	+	1	2	USP38	144352981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.632000	0.46511	0.987000	0.38709	0.529000	0.55759	AGA	.	.		0.378	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
TTC29	83894	hgsc.bcm.edu	37	4	147860987	147860987	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:147860987T>A	ENST00000325106.4	-	3	287	c.61A>T	c.(61-63)Aag>Tag	p.K21*	TTC29_ENST00000513335.1_Nonsense_Mutation_p.K47*|TTC29_ENST00000398886.4_Nonsense_Mutation_p.K47*|RP11-292D4.2_ENST00000515530.1_RNA	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	21										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CAAGGCAGCTTCTGTCTGGCT	0.418																																					p.K21X		Atlas-SNP	.											.	TTC29	63	.	0			c.A61T						.						81.0	86.0	85.0					4																	147860987		1872	4096	5968	SO:0001587	stop_gained	83894	exon3			GCAGCTTCTGTCT	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.61A>T	chr4.hg19:g.147860987T>A	ENSP00000316740:p.Lys21*	105.0	0.0		84.0	44.0	NM_031956	A4GU95|Q9BXB6	Nonsense_Mutation	SNP	ENST00000325106.4	hg19	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	36	5.937785	0.97122	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425;ENST00000515315;ENST00000502319	.	.	.	5.3	5.3	0.74995	.	0.154112	0.42053	D	0.000774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.1768	11.9333	0.52860	0.0:0.0:0.0:1.0	.	.	.	.	X	47;47;21;21;21;47;21	.	ENSP00000316740:K21X	K	-	1	0	TTC29	148080437	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.904000	0.39868	2.140000	0.66376	0.528000	0.53228	AAG	.	.		0.418	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
TIGD4	201798	hgsc.bcm.edu	37	4	153691590	153691590	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:153691590A>G	ENST00000304337.2	-	2	1387	c.567T>C	c.(565-567)taT>taC	p.Y189Y		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	189	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GTAACATTCGATAAAGCAGCC	0.348																																					p.Y189Y		Atlas-SNP	.											.	TIGD4	53	.	0			c.T567C						.						62.0	64.0	63.0					4																	153691590		2203	4296	6499	SO:0001819	synonymous_variant	201798	exon2			CATTCGATAAAGC	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.567T>C	chr4.hg19:g.153691590A>G		160.0	0.0		108.0	48.0	NM_145720	Q96LP5	Silent	SNP	ENST00000304337.2	hg19	CCDS34079.1																																																																																			.	.		0.348	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
FHDC1	85462	hgsc.bcm.edu	37	4	153897040	153897040	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:153897040C>A	ENST00000511601.1	+	12	2785	c.2597C>A	c.(2596-2598)tCc>tAc	p.S866Y	FHDC1_ENST00000260008.3_Missense_Mutation_p.S866Y			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	866									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGAGAGGCTCCCTGAAAGAG	0.657																																					p.S866Y		Atlas-SNP	.											.	FHDC1	102	.	0			c.C2597A						.						63.0	77.0	72.0					4																	153897040		2200	4299	6499	SO:0001583	missense	85462	exon11			GAGGCTCCCTGAA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2597C>A	chr4.hg19:g.153897040C>A	ENSP00000427567:p.Ser866Tyr	243.0	0.0		177.0	83.0	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	hg19	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507860	0.44558	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.39406	1.08;1.08	4.65	4.65	0.58169	.	1.125910	0.06249	N	0.691717	T	0.50257	0.1605	L	0.32530	0.975	0.44825	D	0.997836	D	0.56521	0.976	P	0.51016	0.656	T	0.49273	-0.8957	10	0.87932	D	0	.	17.534	0.87822	0.0:1.0:0.0:0.0	.	866	Q9C0D6	FHDC1_HUMAN	Y	866	ENSP00000427567:S866Y;ENSP00000260008:S866Y	ENSP00000260008:S866Y	S	+	2	0	FHDC1	154116490	0.195000	0.23338	0.073000	0.20177	0.077000	0.17291	2.240000	0.43088	2.119000	0.64992	0.462000	0.41574	TCC	.	.		0.657	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
GRIA2	2891	hgsc.bcm.edu	37	4	158262575	158262575	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:158262575T>C	ENST00000264426.9	+	12	2283	c.2004T>C	c.(2002-2004)taT>taC	p.Y668Y	GRIA2_ENST00000393815.2_Silent_p.Y621Y|GRIA2_ENST00000507898.1_Silent_p.Y621Y|GRIA2_ENST00000449365.1_Silent_p.Y621Y|GRIA2_ENST00000296526.7_Silent_p.Y668Y	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	668					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAATTGCTTATGGAACATTAG	0.403																																					p.Y668Y		Atlas-SNP	.											.	GRIA2	358	.	0			c.T2004C						.						145.0	140.0	142.0					4																	158262575		2203	4300	6503	SO:0001819	synonymous_variant	2891	exon12			TGCTTATGGAACA		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2004T>C	chr4.hg19:g.158262575T>C		82.0	0.0		86.0	43.0	NM_000826	A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	hg19	CCDS43274.1																																																																																			.	.		0.403	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
TMEM144	55314	hgsc.bcm.edu	37	4	159174638	159174638	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:159174638A>G	ENST00000296529.6	+	13	1517	c.997A>G	c.(997-999)Atc>Gtc	p.I333V	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	333						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATTTTGCATCATCTTGACTGG	0.383																																					p.I333V		Atlas-SNP	.											.	TMEM144	34	.	0			c.A997G						.						165.0	158.0	160.0					4																	159174638		2203	4300	6503	SO:0001583	missense	55314	exon13			TGCATCATCTTGA	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.997A>G	chr4.hg19:g.159174638A>G	ENSP00000296529:p.Ile333Val	55.0	0.0		43.0	15.0	NM_018342	D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	hg19	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	A	6.087	0.384312	0.11524	.	.	ENSG00000164124	ENST00000296529	T	0.40756	1.02	5.49	5.49	0.81192	.	0.053649	0.85682	D	0.000000	T	0.22085	0.0532	N	0.10874	0.06	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10730	-1.0617	10	0.08381	T	0.77	-21.9227	12.2683	0.54691	1.0:0.0:0.0:0.0	.	333	Q7Z5S9	TM144_HUMAN	V	333	ENSP00000296529:I333V	ENSP00000296529:I333V	I	+	1	0	TMEM144	159394088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.360000	0.52299	2.214000	0.71695	0.374000	0.22700	ATC	.	.		0.383	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
FSTL5	56884	hgsc.bcm.edu	37	4	162954782	162954782	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:162954782A>T	ENST00000306100.5	-	3	591	c.155T>A	c.(154-156)gTc>gAc	p.V52D	FSTL5_ENST00000536695.1_Missense_Mutation_p.V51D|FSTL5_ENST00000379164.4_Missense_Mutation_p.V51D|FSTL5_ENST00000427802.2_Missense_Mutation_p.V51D|RP11-497K21.1_ENST00000513093.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	52						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTACCTTTGACTCTTGAACT	0.254																																					p.V52D		Atlas-SNP	.											.	FSTL5	207	.	0			c.T155A						.						31.0	31.0	31.0					4																	162954782		2162	4244	6406	SO:0001583	missense	56884	exon3			CCTTTGACTCTTG	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.155T>A	chr4.hg19:g.162954782A>T	ENSP00000305334:p.Val52Asp	147.0	0.0		107.0	50.0	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	hg19	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241899	0.39598	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73152	-0.72;-0.69;-0.72;-0.69	4.99	0.993	0.19825	.	0.746340	0.12064	N	0.502832	T	0.42743	0.1216	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.38950	-0.9637	10	0.35671	T	0.21	.	1.4533	0.02380	0.5492:0.1785:0.1001:0.1722	.	51;51;52	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	D	52;51;51;51	ENSP00000305334:V52D;ENSP00000368462:V51D;ENSP00000389270:V51D;ENSP00000440409:V51D	ENSP00000305334:V52D	V	-	2	0	FSTL5	163174232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.943000	0.29030	0.831000	0.34780	0.533000	0.62120	GTC	.	.		0.254	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
DDX60L	91351	hgsc.bcm.edu	37	4	169299546	169299546	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:169299546C>A	ENST00000511577.1	-	33	4691	c.4444G>T	c.(4444-4446)Gca>Tca	p.A1482S	DDX60L_ENST00000260184.7_Missense_Mutation_p.A1482S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1482							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGGAATTTTGCTGGAATATAT	0.289																																					p.A1482S		Atlas-SNP	.											.	DDX60L	116	.	0			c.G4444T						.						41.0	36.0	38.0					4																	169299546		1779	4040	5819	SO:0001583	missense	91351	exon33			ATTTTGCTGGAAT	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4444G>T	chr4.hg19:g.169299546C>A	ENSP00000422423:p.Ala1482Ser	331.0	1.0		253.0	87.0	NM_001012967	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.747	-0.260984	0.05791	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17370	2.28;2.28	3.36	1.43	0.22495	.	.	.	.	.	T	0.11410	0.0278	M	0.65320	2	0.21105	N	0.999781	P	0.44478	0.836	B	0.30029	0.11	T	0.27739	-1.0065	9	0.08837	T	0.75	.	7.8334	0.29355	0.1729:0.4917:0.3354:0.0	.	1482	Q5H9U9	DDX6L_HUMAN	S	1482	ENSP00000260184:A1482S;ENSP00000422423:A1482S	ENSP00000260184:A1482S	A	-	1	0	DDX60L	169536121	1.000000	0.71417	0.723000	0.30687	0.533000	0.34776	2.708000	0.47152	0.025000	0.15241	0.313000	0.20887	GCA	.	.		0.289	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
GALNTL6	442117	hgsc.bcm.edu	37	4	173730577	173730577	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:173730577A>G	ENST00000506823.1	+	6	1276	c.619A>G	c.(619-621)Aag>Gag	p.K207E	GALNTL6_ENST00000508122.1_Missense_Mutation_p.K190E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	207	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGTTCGCACCAAGAAAAGAGA	0.483																																					p.K207E		Atlas-SNP	.											.	GALNTL6	102	.	0			c.A619G						.						102.0	95.0	98.0					4																	173730577		2203	4300	6503	SO:0001583	missense	442117	exon6			CGCACCAAGAAAA		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.619A>G	chr4.hg19:g.173730577A>G	ENSP00000423313:p.Lys207Glu	104.0	0.0		85.0	27.0	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	hg19	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010985	0.35511	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.57436	0.4;0.4	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000006	T	0.46229	0.1382	N	0.21617	0.685	0.51482	D	0.999926	P	0.42203	0.773	P	0.48063	0.565	T	0.29181	-1.0020	10	0.11182	T	0.66	.	15.7979	0.78424	1.0:0.0:0.0:0.0	.	207	Q49A17	GLTL6_HUMAN	E	207;207;190	ENSP00000423313:K207E;ENSP00000423827:K190E	ENSP00000385382:K207E	K	+	1	0	GALNTL6	173967152	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.277000	0.78572	2.196000	0.70406	0.402000	0.26972	AAG	.	.		0.483	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
ADAM29	11086	hgsc.bcm.edu	37	4	175897487	175897487	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:175897487A>C	ENST00000359240.3	+	5	1481	c.811A>C	c.(811-813)Aag>Cag	p.K271Q	ADAM29_ENST00000404450.4_Missense_Mutation_p.K271Q|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.K271Q|ADAM29_ENST00000514159.1_Missense_Mutation_p.K271Q	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	271	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTGTATTGCAAGTGGAAGTC	0.413																																					p.K271Q	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											.	ADAM29	262	.	0			c.A811C						.						142.0	137.0	139.0					4																	175897487		2203	4300	6503	SO:0001583	missense	11086	exon4			TATTGCAAGTGGA	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.811A>C	chr4.hg19:g.175897487A>C	ENSP00000352177:p.Lys271Gln	152.0	0.0		117.0	50.0	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	hg19	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	A	2.135	-0.398284	0.04865	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.13	-8.26	0.01021	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	4.871630	0.00822	U	0.001585	T	0.40670	0.1126	N	0.22421	0.69	0.09310	N	1	B	0.28178	0.202	B	0.27076	0.076	T	0.29518	-1.0009	9	.	.	.	.	4.2237	0.10570	0.1769:0.5099:0.2006:0.1126	.	271	Q9UKF5	ADA29_HUMAN	Q	271	ENSP00000352177:K271Q;ENSP00000414544:K271Q;ENSP00000384229:K271Q;ENSP00000423517:K271Q	.	K	+	1	0	ADAM29	176134062	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.754000	0.00054	-2.673000	0.00413	-1.153000	0.01818	AAG	.	.		0.413	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ADAM29	11086	hgsc.bcm.edu	37	4	175897603	175897603	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:175897603A>T	ENST00000359240.3	+	5	1597	c.927A>T	c.(925-927)ccA>ccT	p.P309P	ADAM29_ENST00000404450.4_Silent_p.P309P|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.P309P|ADAM29_ENST00000514159.1_Silent_p.P309P	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	309	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGTACACCACACCGTAGTT	0.423																																					p.P309P	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											.	ADAM29	262	.	0			c.A927T						.						155.0	152.0	153.0					4																	175897603		2203	4300	6503	SO:0001819	synonymous_variant	11086	exon4			TACACCACACCGT	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.927A>T	chr4.hg19:g.175897603A>T		243.0	0.0		155.0	56.0	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	hg19	CCDS3823.1																																																																																			.	.		0.423	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ADAM29	11086	hgsc.bcm.edu	37	4	175899050	175899050	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:175899050C>A	ENST00000359240.3	+	5	3044	c.2374C>A	c.(2374-2376)Cct>Act	p.P792T	ADAM29_ENST00000404450.4_Missense_Mutation_p.P792T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P792T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P792T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	792	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAGTTGACGCCTTCCCAGAG	0.572																																					p.P792T	Ovarian(140;1727 1835 21805 25838 41440)	Atlas-SNP	.											.	ADAM29	262	.	0			c.C2374A						.						162.0	151.0	155.0					4																	175899050		2203	4300	6503	SO:0001583	missense	11086	exon4			TTGACGCCTTCCC	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2374C>A	chr4.hg19:g.175899050C>A	ENSP00000352177:p.Pro792Thr	174.0	0.0		108.0	28.0	NM_001130703	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	hg19	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	5.659	0.306247	0.10733	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01963	4.53;4.53;4.53;4.53	0.727	0.727	0.18254	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P	0.41232	0.743	B	0.28991	0.097	T	0.52170	-0.8611	8	.	.	.	.	7.2316	0.26046	0.0:0.9999:0.0:1.0E-4	.	792	Q9UKF5	ADA29_HUMAN	T	792	ENSP00000352177:P792T;ENSP00000414544:P792T;ENSP00000384229:P792T;ENSP00000423517:P792T	.	P	+	1	0	ADAM29	176135625	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.138000	0.10374	0.675000	0.31264	0.297000	0.19635	CCT	.	.		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
WDR17	116966	hgsc.bcm.edu	37	4	177098697	177098697	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:177098697A>G	ENST00000280190.4	+	30	3897	c.3741A>G	c.(3739-3741)ctA>ctG	p.L1247L	WDR17_ENST00000507824.2_Silent_p.L1222L|WDR17_ENST00000393643.2_Silent_p.L1223L|WDR17_ENST00000508596.1_Silent_p.L1208L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1247										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAAAGAGACTAAAAGAAGAGT	0.328																																					p.L1247L		Atlas-SNP	.											.	WDR17	198	.	0			c.A3741G						.						75.0	84.0	81.0					4																	177098697		2203	4298	6501	SO:0001819	synonymous_variant	116966	exon30			GAGACTAAAAGAA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3741A>G	chr4.hg19:g.177098697A>G		120.0	0.0		96.0	50.0	NM_170710	E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	3.985	-0.005668	0.07773	.	.	ENSG00000150627	ENST00000443118	.	.	.	6.16	-2.58	0.06228	.	.	.	.	.	T	0.20129	0.0484	.	.	.	0.26957	N	0.965901	.	.	.	.	.	.	T	0.28459	-1.0043	4	.	.	.	-5.3448	2.7201	0.05198	0.4538:0.1901:0.2631:0.0931	.	.	.	.	E	482	.	.	K	+	1	0	WDR17	177335691	0.911000	0.30947	0.070000	0.20053	0.613000	0.37349	-0.008000	0.12788	-0.319000	0.08652	0.528000	0.53228	AAA	.	.		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
VEGFC	7424	hgsc.bcm.edu	37	4	177608644	177608644	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:177608644C>T	ENST00000280193.2	-	6	1257	c.842G>A	c.(841-843)gGa>gAa	p.G281E	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	281	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.G281E(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTTGTTTGGTCCACAGATGTC	0.473																																					p.G281E		Atlas-SNP	.											VEGFC,NS,carcinoma,0,1	VEGFC	94	.	1	Substitution - Missense(1)	lung(1)	c.G842A						.						43.0	38.0	40.0					4																	177608644		1927	4136	6063	SO:0001583	missense	7424	exon6			TTTGGTCCACAGA	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.842G>A	chr4.hg19:g.177608644C>T	ENSP00000280193:p.Gly281Glu	39.0	0.0		45.0	17.0	NM_005429	B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	hg19	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482970	0.84747	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83318	-0.0019	9	0.62326	D	0.03	-18.4237	19.9099	0.97023	0.0:1.0:0.0:0.0	.	281	P49767	VEGFC_HUMAN	E	281	.	ENSP00000280193:G281E	G	-	2	0	VEGFC	177845638	1.000000	0.71417	0.996000	0.52242	0.690000	0.40134	7.201000	0.77847	2.691000	0.91804	0.650000	0.86243	GGA	.	.		0.473	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
TENM3	55714	hgsc.bcm.edu	37	4	183549876	183549876	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:183549876A>T	ENST00000511685.1	+	5	945	c.822A>T	c.(820-822)gcA>gcT	p.A274A	TENM3_ENST00000406950.2_Silent_p.A274A|RN7SKP67_ENST00000515905.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	274	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACACAATGGCATCTGGCTCTG	0.423																																					p.A274A		Atlas-SNP	.											.	.	.	.	0			c.A822T						.						60.0	58.0	58.0					4																	183549876		1982	4173	6155	SO:0001819	synonymous_variant	55714	exon4			AATGGCATCTGGC	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.822A>T	chr4.hg19:g.183549876A>T		268.0	0.0		102.0	73.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	hg19	CCDS47165.1																																																																																			.	.		0.423	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
FAT1	2195	hgsc.bcm.edu	37	4	187538294	187538294	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:187538294C>T	ENST00000441802.2	-	11	9149	c.8940G>A	c.(8938-8940)gtG>gtA	p.V2980V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2980	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						GAGGTTTCTTCACATATACCT	0.378										HNSCC(5;0.00058)																											p.V2980V	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.G8940A						.						174.0	158.0	163.0					4																	187538294		1864	4095	5959	SO:0001819	synonymous_variant	2195	exon11			TTTCTTCACATAT	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.8940G>A	chr4.hg19:g.187538294C>T		126.0	0.0		47.0	36.0	NM_005245		Silent	SNP	ENST00000441802.2	hg19	CCDS47177.1																																																																																			.	.		0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	hgsc.bcm.edu	37	4	187539226	187539226	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr4:187539226T>A	ENST00000441802.2	-	10	8723	c.8514A>T	c.(8512-8514)tcA>tcT	p.S2838S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						CGTTGGTTCCTGAGTCAGCAT	0.448										HNSCC(5;0.00058)																											p.S2838S	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.A8514T						.						112.0	105.0	107.0					4																	187539226		1946	4163	6109	SO:0001819	synonymous_variant	2195	exon10			GGTTCCTGAGTCA	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.8514A>T	chr4.hg19:g.187539226T>A		83.0	0.0		48.0	29.0	NM_005245		Silent	SNP	ENST00000441802.2	hg19	CCDS47177.1																																																																																			.	.		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
PLEKHG4B	153478	hgsc.bcm.edu	37	5	163383	163383	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:163383A>T	ENST00000283426.6	+	11	2178	c.2128A>T	c.(2128-2130)Acc>Tcc	p.T710S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	710							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCCCACCCAGACCCTGGCCAG	0.622																																					p.T710S		Atlas-SNP	.											.	PLEKHG4B	167	.	0			c.A2128T						.						33.0	43.0	40.0					5																	163383		2201	4300	6501	SO:0001583	missense	153478	exon11			ACCCAGACCCTGG	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2128A>T	chr5.hg19:g.163383A>T	ENSP00000283426:p.Thr710Ser	99.0	0.0		41.0	32.0	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	hg19	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	5.999	0.368232	0.11352	.	.	ENSG00000153404	ENST00000283426	T	0.26660	1.72	3.0	-1.34	0.09143	.	.	.	.	.	T	0.12433	0.0302	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34378	-0.9831	9	0.16420	T	0.52	.	2.4186	0.04442	0.3393:0.0:0.3855:0.2752	.	710	Q96PX9	PKH4B_HUMAN	S	710	ENSP00000283426:T710S	ENSP00000283426:T710S	T	+	1	0	PLEKHG4B	216383	0.001000	0.12720	0.008000	0.14137	0.397000	0.30659	-0.196000	0.09532	0.116000	0.18110	0.377000	0.23210	ACC	.	.		0.622	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
BRD9	65980	hgsc.bcm.edu	37	5	878542	878542	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:878542T>A	ENST00000467963.1	-	11	1365	c.1199A>T	c.(1198-1200)gAc>gTc	p.D400V	BRD9_ENST00000323510.4_Missense_Mutation_p.D304V|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.D284V|BRD9_ENST00000483173.1_Missense_Mutation_p.D347V	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	400					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CGACTTCAAGTCGCCAAATAC	0.562																																					p.D400V		Atlas-SNP	.											.	BRD9	113	.	0			c.A1199T						.						123.0	103.0	110.0					5																	878542		2203	4300	6503	SO:0001583	missense	65980	exon11			TTCAAGTCGCCAA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1199A>T	chr5.hg19:g.878542T>A	ENSP00000419765:p.Asp400Val	72.0	0.0		59.0	13.0	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	hg19	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	t	19.03	3.747932	0.69533	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.42	5.42	0.78866	.	0.087730	0.85682	D	0.000000	T	0.54775	0.1879	M	0.68317	2.08	0.80722	D	1	D;P;P;P;P	0.52996	0.957;0.917;0.498;0.898;0.754	P;P;B;B;B	0.52646	0.705;0.684;0.199;0.426;0.297	T	0.60535	-0.7244	10	0.87932	D	0	.	15.1213	0.72443	0.0:0.0:0.0:1.0	.	347;400;78;304;284	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	V	304;284;78;347;400	ENSP00000323557:D304V;ENSP00000373542:D284V;ENSP00000419845:D347V;ENSP00000419765:D400V	ENSP00000323557:D304V	D	-	2	0	BRD9	931542	1.000000	0.71417	0.114000	0.21550	0.427000	0.31564	6.563000	0.73964	2.052000	0.61016	0.533000	0.62120	GAC	.	.		0.562	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924	
TRIP13	9319	hgsc.bcm.edu	37	5	901481	901481	+	Nonsense_Mutation	SNP	T	T	G	rs375761713		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:901481T>G	ENST00000166345.3	+	5	826	c.470T>G	c.(469-471)tTa>tGa	p.L157*		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	157					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATGACAACTTTACTGTTTTCA	0.448																																					p.L157X		Atlas-SNP	.											.	TRIP13	41	.	0			c.T470G						.						116.0	110.0	112.0					5																	901481		2203	4300	6503	SO:0001587	stop_gained	9319	exon5			CAACTTTACTGTT	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.470T>G	chr5.hg19:g.901481T>G	ENSP00000166345:p.Leu157*	129.0	0.0		77.0	33.0	NM_004237	C9K0T3|D3DTC0|O15324	Nonsense_Mutation	SNP	ENST00000166345.3	hg19	CCDS3858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.484721|5.484721	0.96323|0.96323	.|.	.|.	ENSG00000071539|ENSG00000071539	ENST00000166345;ENST00000354240|ENST00000513435	.|.	.|.	.|.	5.68|5.68	4.51|4.51	0.55191|0.55191	.|.	0.186175|.	0.44902|.	D|.	0.000416|.	.|T	.|0.60945	.|0.2308	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68224	.|-0.5465	.|3	0.02654|.	T|.	1|.	-29.7093|-29.7093	11.439|11.439	0.50086|0.50086	0.0:0.0714:0.0:0.9286|0.0:0.0714:0.0:0.9286	.|.	.|.	.|.	.|.	X|D	157|153	.|.	ENSP00000166345:L157X|.	L|Y	+|+	2|1	0|0	TRIP13|TRIP13	954481|954481	0.966000|0.966000	0.33281|0.33281	0.026000|0.026000	0.17262|0.17262	0.049000|0.049000	0.14656|0.14656	7.405000|7.405000	0.80007|0.80007	0.973000|0.973000	0.38340|0.38340	0.402000|0.402000	0.26972|0.26972	TTA|TAC	.	.		0.448	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237	
SLC12A7	10723	hgsc.bcm.edu	37	5	1053467	1053467	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:1053467T>A	ENST00000264930.5	-	23	3200	c.3157A>T	c.(3157-3159)Aac>Tac	p.N1053Y		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1053					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGGATACAGTTCTCGTCTCCC	0.602																																					p.N1053Y		Atlas-SNP	.											.	SLC12A7	97	.	0			c.A3157T						.						165.0	125.0	139.0					5																	1053467		2203	4300	6503	SO:0001583	missense	10723	exon23			TACAGTTCTCGTC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.3157A>T	chr5.hg19:g.1053467T>A	ENSP00000264930:p.Asn1053Tyr	78.0	0.0		58.0	25.0	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719140	0.48728	.	.	ENSG00000113504	ENST00000264930	D	0.86694	-2.16	3.88	3.88	0.44766	.	0.174503	0.48286	N	0.000185	D	0.82628	0.5078	M	0.72118	2.19	0.58432	D	0.999999	B	0.28439	0.212	B	0.28553	0.091	T	0.75025	-0.3463	10	0.05833	T	0.94	.	10.9162	0.47137	0.0:0.0:0.0:1.0	.	1053	Q9Y666	S12A7_HUMAN	Y	1053	ENSP00000264930:N1053Y	ENSP00000264930:N1053Y	N	-	1	0	SLC12A7	1106467	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	6.733000	0.74796	1.535000	0.49220	0.402000	0.26972	AAC	.	.		0.602	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
TERT	7015	hgsc.bcm.edu	37	5	1254534	1254534	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:1254534G>A	ENST00000310581.5	-	15	3301	c.3244C>T	c.(3244-3246)Ctg>Ttg	p.L1082L	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.L1019L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1082	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TGTCGAGTCAGCTTGAGCAGG	0.677									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																												p.L1082L		Atlas-SNP	.											.	TERT	2594	.	0			c.C3244T						.						52.0	63.0	59.0					5																	1254534		2140	4252	6392	SO:0001819	synonymous_variant	7015	exon15	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	GAGTCAGCTTGAG	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3244C>T	chr5.hg19:g.1254534G>A		78.0	0.0		56.0	25.0	NM_198253	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	hg19	CCDS3861.2																																																																																			.	.		0.677	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
SLC6A3	6531	hgsc.bcm.edu	37	5	1414820	1414820	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:1414820T>C	ENST00000270349.9	-	8	1269	c.1142A>G	c.(1141-1143)gAc>gGc	p.D381G	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D381G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	381					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGGCCACGTCCCCGATGGG	0.607																																					p.D381G		Atlas-SNP	.											.	SLC6A3	102	.	0			c.A1142G						.						74.0	57.0	63.0					5																	1414820		2201	4300	6501	SO:0001583	missense	6531	exon8			GCCACGTCCCCGA		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1142A>G	chr5.hg19:g.1414820T>C	ENSP00000270349:p.Asp381Gly	56.0	0.0		40.0	18.0	NM_001044	A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	hg19	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586507	0.66105	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75260	-0.92;-0.92	4.09	4.09	0.47781	.	0.112351	0.64402	D	0.000012	T	0.80182	0.4576	M	0.85099	2.735	0.45914	D	0.998759	P	0.41848	0.763	P	0.46389	0.515	T	0.82944	-0.0206	10	0.72032	D	0.01	.	11.0545	0.47909	0.0:0.0:0.0:1.0	.	381	Q01959	SC6A3_HUMAN	G	381	ENSP00000270349:D381G;ENSP00000399806:D381G	ENSP00000270349:D381G	D	-	2	0	SLC6A3	1467820	0.998000	0.40836	0.994000	0.49952	0.484000	0.33280	5.594000	0.67557	1.500000	0.48636	0.454000	0.30748	GAC	.	.		0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
ADCY2	108	hgsc.bcm.edu	37	5	7817092	7817092	+	Splice_Site	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:7817092G>C	ENST00000338316.4	+	23	3086	c.2997G>C	c.(2995-2997)gtG>gtC	p.V999V	ADCY2_ENST00000537121.1_Splice_Site_p.V819V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	999					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AATTGCGAGTGGGTACGTTCT	0.463											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V999V		Atlas-SNP	.											.	ADCY2	337	.	0			c.G2997C						.						181.0	134.0	150.0					5																	7817092		2203	4300	6503	SO:0001630	splice_region_variant	108	exon23			GCGAGTGGGTACG	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2998+1G>C	chr5.hg19:g.7817092G>C		169.0	0.0	644	104.0	42.0	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	hg19	CCDS3872.2																																																																																			.	.		0.463	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Silent
MTRR	4552	hgsc.bcm.edu	37	5	7878172	7878172	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:7878172G>T	ENST00000264668.2	+	5	628	c.598G>T	c.(598-600)Gca>Tca	p.A200S	MTRR_ENST00000440940.2_Missense_Mutation_p.A173S|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	200	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GGCATCACCTGCATCCTCGAG	0.512																																					p.A200S		Atlas-SNP	.											.	MTRR	74	.	0			c.G598T						.						70.0	66.0	68.0					5																	7878172		2203	4300	6503	SO:0001583	missense	4552	exon5			TCACCTGCATCCT	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.598G>T	chr5.hg19:g.7878172G>T	ENSP00000264668:p.Ala200Ser	71.0	0.0		38.0	20.0	NM_024010	O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	hg19	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.070|6.070	0.381292|0.381292	0.11466|0.11466	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940|ENST00000514220	T;T|.	0.02121|.	4.44;4.44|.	5.72|5.72	-0.218|-0.218	0.13142|0.13142	.|.	2.011070|.	0.01682|.	N|.	0.026218|.	T|T	0.39937|0.39937	0.1097|0.1097	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B|.	0.17465|.	0.022|.	B|.	0.11329|.	0.006|.	T|T	0.34403|0.34403	-0.9830|-0.9830	10|5	0.16896|.	T|.	0.51|.	-1.0779|-1.0779	5.4962|5.4962	0.16804|0.16804	0.4218:0.0:0.4291:0.149|0.4218:0.0:0.4291:0.149	.|.	200|.	Q9UBK8|.	MTRR_HUMAN|.	S|F	200;173|101	ENSP00000264668:A200S;ENSP00000402510:A173S|.	ENSP00000264668:A200S|.	A|C	+|+	1|2	0|0	MTRR|MTRR	7931172|7931172	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.059000|0.059000	0.14322|0.14322	-0.108000|-0.108000	0.12066|0.12066	-0.150000|-0.150000	0.13652|0.13652	GCA|TGC	.	.		0.512	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		
CTNND2	1501	hgsc.bcm.edu	37	5	11098804	11098804	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:11098804C>A	ENST00000304623.8	-	15	2709	c.2520G>T	c.(2518-2520)atG>atT	p.M840I	CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.M749I|CTNND2_ENST00000458100.2_Missense_Mutation_p.M407I|CTNND2_ENST00000503622.1_Missense_Mutation_p.M503I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	840					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTGCCACAGCATCTGGATCC	0.517																																					p.M840I		Atlas-SNP	.											CTNND2,colon,carcinoma,0,1	CTNND2	289	.	0			c.G2520T						.						151.0	137.0	142.0					5																	11098804		2203	4300	6503	SO:0001583	missense	1501	exon15			CCACAGCATCTGG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2520G>T	chr5.hg19:g.11098804C>A	ENSP00000307134:p.Met840Ile	71.0	0.0		63.0	28.0	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206011	0.95033	.	.	ENSG00000169862	ENST00000304623;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	N	0.14661	0.345	0.80722	D	1	D;D;D	0.53885	0.959;0.959;0.963	P;P;P	0.60117	0.755;0.675;0.869	T	0.81493	-0.0908	10	0.66056	D	0.02	-28.7566	20.8794	0.99867	0.0:1.0:0.0:0.0	.	503;407;840	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	I	840;749;407;503	ENSP00000307134:M840I;ENSP00000426510:M749I;ENSP00000391155:M407I;ENSP00000426887:M503I	ENSP00000307134:M840I	M	-	3	0	CTNND2	11151804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ATG	.	.		0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
CTNND2	1501	hgsc.bcm.edu	37	5	11117662	11117662	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:11117662C>A	ENST00000304623.8	-	13	2366	c.2177G>T	c.(2176-2178)gGa>gTa	p.G726V	CTNND2_ENST00000359640.2_Missense_Mutation_p.G726V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G635V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G293V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G389V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	726					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCCTCCTCTCCGGCCGAACT	0.527																																					p.G726V		Atlas-SNP	.											CTNND2,NS,carcinoma,0,1	CTNND2	289	.	0			c.G2177T						.						156.0	122.0	134.0					5																	11117662		2203	4300	6503	SO:0001583	missense	1501	exon13			TCCTCTCCGGCCG	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2177G>T	chr5.hg19:g.11117662C>A	ENSP00000307134:p.Gly726Val	122.0	0.0		78.0	29.0	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350419	0.82132	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.6	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.048548	0.85682	D	0.000000	D	0.89887	0.6845	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.91319	0.5080	10	0.87932	D	0	-12.8857	14.3949	0.67003	0.0:0.9291:0.0:0.0709	.	389;293;726	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	726;726;635;293;389	ENSP00000307134:G726V;ENSP00000352661:G726V;ENSP00000426510:G635V;ENSP00000391155:G293V;ENSP00000426887:G389V	ENSP00000307134:G726V	G	-	2	0	CTNND2	11170662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.376000	0.79658	1.370000	0.46153	0.650000	0.86243	GGA	.	.		0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
MYO10	4651	hgsc.bcm.edu	37	5	16711259	16711259	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:16711259G>T	ENST00000513610.1	-	20	2479	c.2025C>A	c.(2023-2025)gtC>gtA	p.V675V	MYO10_ENST00000427430.2_Silent_p.V32V|MYO10_ENST00000515803.1_Silent_p.V14V|MYO10_ENST00000512061.1_Intron|MYO10_ENST00000274203.9_Silent_p.V32V|MYO10_ENST00000505695.1_Silent_p.V14V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	675	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGTCTTCGGACCGCATACC	0.502																																					p.V675V		Atlas-SNP	.											.	MYO10	198	.	0			c.C2025A						.						44.0	45.0	45.0					5																	16711259		1880	4128	6008	SO:0001819	synonymous_variant	4651	exon20			TCTTCGGACCGCA	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2025C>A	chr5.hg19:g.16711259G>T		180.0	0.0		104.0	60.0	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	hg19	CCDS54834.1																																																																																			.	.		0.502	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
TTC23L	153657	hgsc.bcm.edu	37	5	34880306	34880306	+	Missense_Mutation	SNP	A	A	G	rs528367394	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:34880306A>G	ENST00000505624.1	+	9	1073	c.970A>G	c.(970-972)Ata>Gta	p.I324V	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	324										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATATATTTCATAAGAAGTAT	0.358													A|||	5	0.000998403	0.0	0.0	5008	,	,		19114	0.0		0.0	False		,,,				2504	0.0051				p.I324V		Atlas-SNP	.											.	TTC23L	47	.	0			c.A970G						.						93.0	90.0	91.0					5																	34880306		1825	4093	5918	SO:0001583	missense	153657	exon9			TATTTCATAAGAA		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.970A>G	chr5.hg19:g.34880306A>G	ENSP00000422188:p.Ile324Val	186.0	0.0		198.0	94.0	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	hg19	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	a	1.710	-0.499209	0.04291	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.11495	2.77	4.6	4.6	0.57074	.	0.405060	0.21525	U	0.073154	T	0.12347	0.0300	L	0.57536	1.79	0.23950	N	0.996376	B	0.25809	0.135	B	0.24541	0.054	T	0.10474	-1.0628	10	0.40728	T	0.16	-19.3794	10.5549	0.45112	1.0:0.0:0.0:0.0	.	324	Q6PF05	TT23L_HUMAN	V	324	ENSP00000422188:I324V	ENSP00000422188:I324V	I	+	1	0	TTC23L	34916063	0.999000	0.42202	1.000000	0.80357	0.380000	0.30137	0.626000	0.24492	2.058000	0.61347	0.473000	0.43528	ATA	.	.		0.358	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725	
SPEF2	79925	hgsc.bcm.edu	37	5	35709050	35709050	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:35709050T>A	ENST00000356031.3	+	19	2820	c.2666T>A	c.(2665-2667)gTt>gAt	p.V889D	SPEF2_ENST00000440995.2_Splice_Site_p.V884D|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Splice_Site_p.V884D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	889					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTGAAGTTGAGAAGAAA	0.378																																					p.V889D		Atlas-SNP	.											.	SPEF2	324	.	0			c.T2666A						.						43.0	43.0	43.0					5																	35709050		1828	4085	5913	SO:0001630	splice_region_variant	79925	exon19			TTGAAGTTGAGAA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2666-1T>A	chr5.hg19:g.35709050T>A		243.0	0.0		218.0	81.0	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	hg19	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.197062	0.58126	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.08102	3.29;3.13;3.36	5.82	3.3	0.37823	.	0.516703	0.19831	N	0.105096	T	0.15349	0.0370	M	0.69823	2.125	0.80722	D	1	D;P;P	0.54964	0.969;0.899;0.736	P;P;B	0.53490	0.727;0.474;0.282	T	0.00880	-1.1529	9	.	.	.	.	4.4272	0.11509	0.0:0.1033:0.2037:0.693	.	884;884;889	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	D	889;884;884	ENSP00000348314:V889D;ENSP00000421593:V884D;ENSP00000412125:V884D	.	V	+	2	0	SPEF2	35744807	1.000000	0.71417	0.958000	0.39756	0.857000	0.48899	1.379000	0.34340	2.222000	0.72286	0.528000	0.53228	GTT	.	.		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Missense_Mutation
C6	729	hgsc.bcm.edu	37	5	41143008	41143008	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:41143008T>A	ENST00000263413.3	-	18	2988	c.2724A>T	c.(2722-2724)acA>acT	p.T908T	C6_ENST00000337836.5_Silent_p.T908T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	908	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGATGTTCAATGTTTTCTCAC	0.453																																					p.T908T		Atlas-SNP	.											.	C6	197	.	0			c.A2724T						.						244.0	202.0	216.0					5																	41143008		2203	4300	6503	SO:0001819	synonymous_variant	729	exon18			GTTCAATGTTTTC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2724A>T	chr5.hg19:g.41143008T>A		89.0	0.0		82.0	34.0	NM_001115131		Silent	SNP	ENST00000263413.3	hg19	CCDS3936.1																																																																																			.	.		0.453	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
ITGA2	3673	hgsc.bcm.edu	37	5	52369005	52369005	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:52369005G>A	ENST00000296585.5	+	20	2630	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	829					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGTAACGCTGAAAAATAAAA	0.368																																					p.L829L		Atlas-SNP	.											ITGA2_ENST00000296585,NS,carcinoma,0,2	ITGA2	211	.	0			c.G2487A						.						123.0	118.0	120.0					5																	52369005		2203	4300	6503	SO:0001819	synonymous_variant	3673	exon20			AACGCTGAAAAAT		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2487G>A	chr5.hg19:g.52369005G>A		80.0	2.0		79.0	31.0	NM_002203	Q14595	Silent	SNP	ENST00000296585.5	hg19	CCDS3957.1																																																																																			.	.		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
PPAP2A	8611	hgsc.bcm.edu	37	5	54763943	54763943	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:54763943T>A	ENST00000307259.8	-	3	665	c.245A>T	c.(244-246)aAc>aTc	p.N82I	PPAP2A_ENST00000515132.1_5'UTR|PPAP2A_ENST00000264775.5_Missense_Mutation_p.N83I	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	82					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTGCAAAAGGTTACAGTAAAC	0.353																																					p.N83I		Atlas-SNP	.											.	PPAP2A	42	.	0			c.A248T						.						90.0	97.0	94.0					5																	54763943		2203	4300	6503	SO:0001583	missense	8611	exon3			AAAAGGTTACAGT	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.245A>T	chr5.hg19:g.54763943T>A	ENSP00000302229:p.Asn82Ile	74.0	0.0		57.0	22.0	NM_176895	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	hg19	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322377	0.41096	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.76186	-1.0;-1.0	5.63	4.47	0.54385	.	0.642476	0.16994	N	0.191163	T	0.78848	0.4348	M	0.76574	2.34	0.44611	D	0.997588	B;P	0.44195	0.022;0.828	B;P	0.48400	0.042;0.576	T	0.76713	-0.2858	10	0.40728	T	0.16	-15.0233	11.8014	0.52128	0.0:0.0689:0.0:0.9311	.	82;83	O14494;G3XA95	LPP1_HUMAN;.	I	83;82	ENSP00000264775:N83I;ENSP00000302229:N82I	ENSP00000264775:N83I	N	-	2	0	PPAP2A	54799700	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	3.957000	0.56730	1.080000	0.41073	0.467000	0.42956	AAC	.	.		0.353	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1		
PLK2	10769	hgsc.bcm.edu	37	5	57750786	57750786	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:57750786T>A	ENST00000274289.3	-	13	2118	c.1818A>T	c.(1816-1818)ctA>ctT	p.L606L	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	606	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TATCAGATTTTAGCCACTGAA	0.433																																					p.L606L		Atlas-SNP	.											.	PLK2	71	.	0			c.A1818T						.						204.0	209.0	208.0					5																	57750786		2203	4300	6503	SO:0001819	synonymous_variant	10769	exon13			AGATTTTAGCCAC		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1818A>T	chr5.hg19:g.57750786T>A		157.0	0.0		123.0	54.0	NM_006622	O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	hg19	CCDS3974.1																																																																																			.	.		0.433	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
SLC30A5	64924	hgsc.bcm.edu	37	5	68423913	68423913	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:68423913A>G	ENST00000396591.3	+	15	2691	c.2081A>G	c.(2080-2082)cAt>cGt	p.H694R	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	694					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGAACAATTCATATACAGGTG	0.338																																					p.H694R		Atlas-SNP	.											.	SLC30A5	54	.	0			c.A2081G						.						130.0	136.0	134.0					5																	68423913		2203	4300	6503	SO:0001583	missense	64924	exon15			CAATTCATATACA	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2081A>G	chr5.hg19:g.68423913A>G	ENSP00000379836:p.His694Arg	73.0	0.0		66.0	27.0	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	hg19	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290986	0.59976	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.65178	-0.14	5.17	5.17	0.71159	.	0.044953	0.85682	D	0.000000	T	0.66257	0.2771	M	0.88842	2.985	0.80722	D	1	P	0.40794	0.729	B	0.34824	0.19	T	0.73418	-0.3989	10	0.46703	T	0.11	.	14.8359	0.70183	1.0:0.0:0.0:0.0	.	694	Q8TAD4	ZNT5_HUMAN	R	694;289	ENSP00000379836:H694R	ENSP00000379836:H694R	H	+	2	0	SLC30A5	68459669	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.909000	0.92647	2.171000	0.68590	0.402000	0.26972	CAT	.	.		0.338	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
MAP1B	4131	hgsc.bcm.edu	37	5	71494454	71494454	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:71494454G>C	ENST00000296755.7	+	5	5570	c.5272G>C	c.(5272-5274)Gat>Cat	p.D1758H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1758					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCCTCCCAGAGATATGTCCTT	0.498																																					p.D1758H	Melanoma(17;367 822 11631 31730 47712)	Atlas-SNP	.											.	MAP1B	243	.	0			c.G5272C						.						107.0	115.0	112.0					5																	71494454		2203	4300	6503	SO:0001583	missense	4131	exon5			CCCAGAGATATGT	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5272G>C	chr5.hg19:g.71494454G>C	ENSP00000296755:p.Asp1758His	63.0	0.0		49.0	18.0	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	hg19	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133018	0.37630	.	.	ENSG00000131711	ENST00000296755	T	0.04015	3.73	5.22	5.22	0.72569	.	0.374661	0.25619	N	0.029435	T	0.07728	0.0194	N	0.24115	0.695	0.48185	D	0.999607	P;P	0.42123	0.771;0.771	P;P	0.45946	0.498;0.498	T	0.25398	-1.0133	10	0.87932	D	0	-7.6181	19.1387	0.93439	0.0:0.0:1.0:0.0	.	1632;1758	A2BDK6;P46821	.;MAP1B_HUMAN	H	1758	ENSP00000296755:D1758H	ENSP00000296755:D1758H	D	+	1	0	MAP1B	71530210	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.691000	0.68249	2.608000	0.88229	0.448000	0.29417	GAT	.	.		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
RASGRF2	5924	hgsc.bcm.edu	37	5	80363997	80363997	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:80363997A>T	ENST00000265080.4	+	3	609	c.542A>T	c.(541-543)gAg>gTg	p.E181V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	181					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTTAAATCAGAGGTATTTCCC	0.388																																					p.E181V		Atlas-SNP	.											.	RASGRF2	165	.	0			c.A542T						.						116.0	109.0	111.0					5																	80363997		2203	4300	6503	SO:0001630	splice_region_variant	5924	exon3			AATCAGAGGTATT	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.543+1A>T	chr5.hg19:g.80363997A>T		79.0	0.0		61.0	42.0	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	hg19	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.860871	0.91433	.	.	ENSG00000113319	ENST00000265080	T	0.51071	0.72	5.91	5.91	0.95273	.	0.159098	0.38605	U	0.001621	T	0.64416	0.2596	L	0.60455	1.87	0.80722	D	1	D	0.65815	0.995	D	0.64042	0.921	T	0.67039	-0.5771	10	0.87932	D	0	.	16.3378	0.83071	1.0:0.0:0.0:0.0	.	181	O14827	RGRF2_HUMAN	V	181	ENSP00000265080:E181V	ENSP00000265080:E181V	E	+	2	0	RASGRF2	80399753	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.335000	0.96500	2.255000	0.74692	0.533000	0.62120	GAG	.	.		0.388	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Missense_Mutation
XRCC4	7518	hgsc.bcm.edu	37	5	82491711	82491711	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:82491711A>T	ENST00000511817.1	+	4	518	c.438A>T	c.(436-438)aaA>aaT	p.K146N	XRCC4_ENST00000338635.6_Missense_Mutation_p.K146N|XRCC4_ENST00000282268.3_Missense_Mutation_p.K146N|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.K146N			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	146					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ACCTGCAGAAAGAAAATGAAA	0.383								Non-homologous end-joining																													p.K146N		Atlas-SNP	.											.	XRCC4	37	.	0			c.A438T						.						78.0	82.0	80.0					5																	82491711		2203	4300	6503	SO:0001583	missense	7518	exon4			GCAGAAAGAAAAT	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.438A>T	chr5.hg19:g.82491711A>T	ENSP00000421491:p.Lys146Asn	50.0	0.0		45.0	29.0	NM_003401	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	hg19	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820773	0.71028	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.56	1.74	0.24563	DNA double-strand break repair and VJ recombination XRCC4, C-terminal (1);	0.204155	0.50627	D	0.000106	T	0.35740	0.0942	M	0.74258	2.255	0.36990	D	0.894722	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.72982	0.938;0.979;0.963	T	0.21930	-1.0231	10	0.48119	T	0.1	-24.2618	8.7384	0.34543	0.7128:0.0:0.2872:0.0	.	146;146;146	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	N	146	ENSP00000282268:K146N;ENSP00000342011:K146N;ENSP00000379344:K146N;ENSP00000421491:K146N	ENSP00000282268:K146N	K	+	3	2	XRCC4	82527467	0.988000	0.35896	0.999000	0.59377	0.981000	0.71138	0.329000	0.19698	0.119000	0.18210	0.477000	0.44152	AAA	.	.		0.383	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550	
GPR98	84059	hgsc.bcm.edu	37	5	90055290	90055290	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:90055290A>G	ENST00000405460.2	+	58	12101	c.12005A>G	c.(12004-12006)aAt>aGt	p.N4002S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4002	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGACGTTCAATATTTCCTTG	0.388																																					p.N4002S		Atlas-SNP	.											.	GPR98	605	.	0			c.A12005G						.						172.0	165.0	167.0					5																	90055290		2046	4209	6255	SO:0001583	missense	84059	exon58			CGTTCAATATTTC	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12005A>G	chr5.hg19:g.90055290A>G	ENSP00000384582:p.Asn4002Ser	107.0	0.0		72.0	24.0	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.048|1.048	-0.676772|-0.676772	0.03378|0.03378	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27104	.|1.69	4.99|4.99	-9.98|-9.98	0.00438|0.00438	.|Na-Ca exchanger/integrin-beta4 (2);	.|0.898366	.|0.09943	.|N	.|0.735694	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.05441|0.05441	-0.05|-0.05	0.49051|0.49051	D|D	0.999743|0.999743	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.25328|0.25328	-1.0135|-1.0135	5|10	.|0.08381	.|T	.|0.77	.|.	7.1297|7.1297	0.25493|0.25493	0.1857:0.2436:0.4906:0.0801|0.1857:0.2436:0.4906:0.0801	.|.	.|4002;4002	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	V|S	1568|4002	.|ENSP00000384582:N4002S	.|ENSP00000296619:N4002S	I|N	+|+	1|2	0|0	GPR98|GPR98	90091046|90091046	0.000000|0.000000	0.05858|0.05858	0.174000|0.174000	0.22961|0.22961	0.131000|0.131000	0.20780|0.20780	-0.829000|-0.829000	0.04415|0.04415	-2.549000|-2.549000	0.00480|0.00480	-0.371000|-0.371000	0.07208|0.07208	ATA|AAT	.	.		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	hgsc.bcm.edu	37	5	90077396	90077396	+	Splice_Site	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:90077396G>T	ENST00000405460.2	+	65	13327		c.e65+1		GPR98_ENST00000425867.2_Splice_Site	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCTTCGAAGGTAGGTTCAGT	0.363																																					.		Atlas-SNP	.											.	GPR98	605	.	0			c.13231+1G>T						.						51.0	47.0	48.0					5																	90077396		1879	4100	5979	SO:0001630	splice_region_variant	84059	exon65			TCGAAGGTAGGTT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13231+1G>T	chr5.hg19:g.90077396G>T		262.0	0.0		182.0	60.0	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420352	0.62622	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.649	0.95793	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	90113152	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	6.612000	0.74187	2.740000	0.93945	0.650000	0.86243	.	.	.		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron
TMEM232	642987	hgsc.bcm.edu	37	5	109904164	109904164	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:109904164G>A	ENST00000455884.2	-	11	1489	c.1439C>T	c.(1438-1440)gCa>gTa	p.A480V	TMEM232_ENST00000429839.2_Missense_Mutation_p.A480V|TMEM232_ENST00000515518.2_5'UTR			C9JQI7	TM232_HUMAN	transmembrane protein 232	480						integral component of membrane (GO:0016021)				breast(1)|kidney(2)	3						TATATTGATTGCATTTTGGAT	0.373																																					p.A480V		Atlas-SNP	.											.	TMEM232	57	.	0			c.C1439T						.						544.0	422.0	459.0					5																	109904164		692	1591	2283	SO:0001583	missense	642987	exon11			TTGATTGCATTTT	AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1439C>T	chr5.hg19:g.109904164G>A	ENSP00000401477:p.Ala480Val	113.0	0.0		82.0	15.0	NM_001039763	B4DKF4	Missense_Mutation	SNP	ENST00000455884.2	hg19	CCDS47253.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465992	0.84425	.	.	ENSG00000186952	ENST00000429839;ENST00000455884	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.68952	2.095	0.35931	D	0.832551	D;D;D	0.89917	0.996;1.0;0.992	P;D;P	0.87578	0.892;0.998;0.848	T	0.78453	-0.2198	8	.	.	.	-18.9362	15.4141	0.74952	0.0:0.0:1.0:0.0	.	480;480;362	C9JQI7;C9JQI7-2;E9PFK0	TM232_HUMAN;.;.	V	480	.	.	A	-	2	0	TMEM232	109932063	0.845000	0.29573	0.323000	0.25347	0.107000	0.19398	2.514000	0.45503	2.712000	0.92718	0.557000	0.71058	GCA	.	.		0.373	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372488.2	NM_001039763	
WDR36	134430	hgsc.bcm.edu	37	5	110430616	110430616	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:110430616A>T	ENST00000513710.2	+	2	334		c.e2-1		CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_Splice_Site|WDR36_ENST00000506538.2_Splice_Site			Q8NI36	WDR36_HUMAN	WD repeat domain 36						regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTTTTAAACAGGTTCAGAAA	0.269																																					.		Atlas-SNP	.											.	WDR36	111	.	0			c.331-2A>T						.						68.0	68.0	68.0					5																	110430616		2197	4291	6488	SO:0001630	splice_region_variant	134430	exon2			TTAAACAGGTTCA	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.331-1A>T	chr5.hg19:g.110430616A>T		77.0	0.0		50.0	28.0	NM_139281	A2RUS4|Q68E02|Q8N1Q2	Splice_Site	SNP	ENST00000513710.2	hg19	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662340	0.67700	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4352	0.61079	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR36	110458515	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.564000	0.73969	1.836000	0.53414	0.533000	0.62120	.	.	.		0.269	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281	Intron
SNCAIP	9627	hgsc.bcm.edu	37	5	121780395	121780395	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:121780395T>C	ENST00000261368.8	+	8	1822	c.1560T>C	c.(1558-1560)tcT>tcC	p.S520S	SNCAIP_ENST00000379538.3_Silent_p.S154S|SNCAIP_ENST00000542191.1_Silent_p.S78S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.S122S|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.S567S|SNCAIP_ENST00000379533.2_Silent_p.S567S|SNCAIP_ENST00000379536.2_Silent_p.S460S|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	520					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGCTGGCCTCTCAAGTGGTGA	0.562																																					p.S520S		Atlas-SNP	.											.	SNCAIP	308	.	0			c.T1560C						.						77.0	74.0	75.0					5																	121780395		2203	4300	6503	SO:0001819	synonymous_variant	9627	exon8			GGCCTCTCAAGTG	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1560T>C	chr5.hg19:g.121780395T>C		113.0	0.0		80.0	29.0	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	hg19	CCDS4131.1																																																																																			.	.		0.562	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
ZNF608	57507	hgsc.bcm.edu	37	5	123983650	123983650	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:123983650T>C	ENST00000306315.5	-	4	2862	c.2427A>G	c.(2425-2427)aaA>aaG	p.K809K	ZNF608_ENST00000504926.1_Silent_p.K382K	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	809	Poly-Lys.						metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTTTTTGTCTTTGAGTGACA	0.478																																					p.K809K		Atlas-SNP	.											.	ZNF608	117	.	0			c.A2427G						.						130.0	136.0	134.0					5																	123983650		2203	4300	6503	SO:0001819	synonymous_variant	57507	exon4			TTTGTCTTTGAGT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2427A>G	chr5.hg19:g.123983650T>C		169.0	0.0		127.0	36.0	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	hg19	CCDS34219.1																																																																																			.	.		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
FBN2	2201	hgsc.bcm.edu	37	5	127609596	127609596	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:127609596T>G	ENST00000508053.1	-	67	8750	c.7776A>C	c.(7774-7776)ccA>ccC	p.P2592P	FBN2_ENST00000262464.4_Silent_p.P2592P			P35556	FBN2_HUMAN	fibrillin 2	2592	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAAACTGCCTGGAGTGTTTT	0.438																																					p.P2592P		Atlas-SNP	.											.	FBN2	858	.	0			c.A7776C						.						123.0	110.0	115.0					5																	127609596		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon61			ACTGCCTGGAGTG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7776A>C	chr5.hg19:g.127609596T>G		202.0	0.0		150.0	78.0	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	hg19	CCDS34222.1																																																																																			.	.		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	hgsc.bcm.edu	37	5	127653902	127653902	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:127653902A>G	ENST00000508053.1	-	42	5630	c.4656T>C	c.(4654-4656)ggT>ggC	p.G1552G	FBN2_ENST00000262464.4_Silent_p.G1552G			P35556	FBN2_HUMAN	fibrillin 2	1552	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTCATAGCGACCAGGCGTGT	0.403																																					p.G1552G		Atlas-SNP	.											.	FBN2	858	.	0			c.T4656C						.						190.0	179.0	183.0					5																	127653902		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon36			ATAGCGACCAGGC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4656T>C	chr5.hg19:g.127653902A>G		236.0	0.0		181.0	94.0	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	hg19	CCDS34222.1																																																																																			.	.		0.403	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FNIP1	96459	hgsc.bcm.edu	37	5	131066598	131066598	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:131066598T>A	ENST00000510461.1	-	3	448	c.353A>T	c.(352-354)cAg>cTg	p.Q118L	FNIP1_ENST00000307954.8_Intron|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Splice_Site_p.Q118L|FNIP1_ENST00000511848.1_Splice_Site_p.Q118L	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	118					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGATCTTACCTGGTACTTAAG	0.353																																					p.Q118L		Atlas-SNP	.											.	FNIP1	104	.	0			c.A353T						.						65.0	65.0	65.0					5																	131066598		2203	4300	6503	SO:0001630	splice_region_variant	96459	exon3			CTTACCTGGTACT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.354+1A>T	chr5.hg19:g.131066598T>A		172.0	0.0		115.0	46.0	NM_001008738	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	hg19	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705373	0.68615	.	.	ENSG00000217128	ENST00000307968;ENST00000510461;ENST00000511848	T;T;T	0.46451	0.87;0.87;0.87	5.27	5.27	0.74061	.	.	.	.	.	T	0.43875	0.1267	M	0.72118	2.19	0.80722	D	1	B;P;B	0.47910	0.103;0.902;0.371	B;B;B	0.39258	0.058;0.254;0.295	T	0.52253	-0.8600	9	0.52906	T	0.07	0.0281	15.4806	0.75524	0.0:0.0:0.0:1.0	.	118;118;118	Q8TF40-2;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	L	118	ENSP00000309266:Q118L;ENSP00000421985:Q118L;ENSP00000425619:Q118L	ENSP00000309266:Q118L	Q	-	2	0	FNIP1	131094497	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.769000	0.68865	2.124000	0.65301	0.533000	0.62120	CAG	.	.		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	Missense_Mutation
PDLIM4	8572	hgsc.bcm.edu	37	5	131607517	131607517	+	Missense_Mutation	SNP	T	T	A	rs557597794		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:131607517T>A	ENST00000253754.3	+	6	768	c.704T>A	c.(703-705)cTc>cAc	p.L235H	PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Intron|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	235							zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCGGAACCTCAAGCCCACG	0.697													T|||	1	0.000199681	0.0008	0.0	5008	,	,		12158	0.0		0.0	False		,,,				2504	0.0				p.L235H		Atlas-SNP	.											.	PDLIM4	22	.	0			c.T704A						.						15.0	20.0	18.0					5																	131607517		2176	4265	6441	SO:0001583	missense	8572	exon6			GGAACCTCAAGCC	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.704T>A	chr5.hg19:g.131607517T>A	ENSP00000253754:p.Leu235His	62.0	0.0		61.0	18.0	NM_003687	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	hg19	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712660	0.68730	.	.	ENSG00000131435	ENST00000253754	T	0.13657	2.57	4.82	3.65	0.41850	.	0.376195	0.26935	N	0.021744	T	0.14356	0.0347	L	0.38175	1.15	0.80722	D	1	P	0.51791	0.948	P	0.46362	0.514	T	0.01367	-1.1373	10	0.87932	D	0	-14.9393	10.3743	0.44073	0.0:0.0787:0.0:0.9213	.	235	P50479	PDLI4_HUMAN	H	235	ENSP00000253754:L235H	ENSP00000253754:L235H	L	+	2	0	PDLIM4	131635416	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	4.056000	0.57448	0.683000	0.31428	0.379000	0.24179	CTC	.	.		0.697	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687	
TCF7	6932	hgsc.bcm.edu	37	5	133451714	133451714	+	Missense_Mutation	SNP	A	A	T	rs570365840	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:133451714A>T	ENST00000321584.4	+	3	627	c.431A>T	c.(430-432)cAg>cTg	p.Q144L	TCF7_ENST00000378560.4_Missense_Mutation_p.Q29L|TCF7_ENST00000395023.1_Missense_Mutation_p.Q29L|TCF7_ENST00000342854.5_Missense_Mutation_p.Q144L|TCF7_ENST00000395029.1_Missense_Mutation_p.Q144L|TCF7_ENST00000321603.6_Missense_Mutation_p.Q144L|TCF7_ENST00000520958.1_Missense_Mutation_p.Q29L|TCF7_ENST00000378564.1_Missense_Mutation_p.Q144L|TCF7_ENST00000518915.1_Missense_Mutation_p.Q29L|TCF7_ENST00000432532.2_Missense_Mutation_p.Q29L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	144					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCAGCCGCAGCCCCCGCTG	0.642													A|||	2	0.000399361	0.0015	0.0	5008	,	,		14177	0.0		0.0	False		,,,				2504	0.0				p.Q144L		Atlas-SNP	.											.	TCF7	81	.	0			c.A431T						.						24.0	26.0	25.0					5																	133451714		2196	4299	6495	SO:0001583	missense	6932	exon3			AGCCGCAGCCCCC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.431A>T	chr5.hg19:g.133451714A>T	ENSP00000326540:p.Gln144Leu	149.0	0.0		76.0	35.0	NM_003202	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	hg19		.	.	.	.	.	.	.	.	.	.	A	13.37	2.218150	0.39201	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023	D;D;D;D;D;D;D;D;D;D	0.99194	-5.48;-5.51;-5.51;-5.53;-5.49;-5.54;-5.45;-5.47;-5.49;-5.47	4.68	4.68	0.58851	CTNNB1 binding, N-teminal (1);	0.697909	0.13627	N	0.374011	D	0.95984	0.8692	L	0.34521	1.04	0.30573	N	0.763302	B;B;B;P	0.40476	0.072;0.002;0.451;0.718	B;B;B;B	0.35971	0.015;0.003;0.103;0.215	D	0.94080	0.7343	10	0.09338	T	0.73	.	10.5026	0.44815	1.0:0.0:0.0:0.0	.	144;144;144;144	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	L	144;144;144;144;144;144;29;29;29;29;29;29;29;29;29	ENSP00000340347:Q144L;ENSP00000326654:Q144L;ENSP00000326540:Q144L;ENSP00000367827:Q144L;ENSP00000378472:Q144L;ENSP00000367822:Q29L;ENSP00000397946:Q29L;ENSP00000429547:Q29L;ENSP00000430179:Q29L;ENSP00000378469:Q29L	ENSP00000326540:Q144L	Q	+	2	0	TCF7	133479613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	1.969000	0.57287	0.456000	0.33151	CAG	.	.		0.642	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	
CDKL3	51265	hgsc.bcm.edu	37	5	133644327	133644327	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:133644327T>A	ENST00000265334.4	-	8	1091	c.973A>T	c.(973-975)Agg>Tgg	p.R325W	CDKL3_ENST00000521118.1_Missense_Mutation_p.R325W|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Missense_Mutation_p.R136W|CDKL3_ENST00000609383.1_Missense_Mutation_p.R30W|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Missense_Mutation_p.R136W|CDKL3_ENST00000523832.1_Missense_Mutation_p.R325W|CDKL3_ENST00000435211.1_Missense_Mutation_p.R325W|CDKL3_ENST00000435240.2_Missense_Mutation_p.R30W|CDKL3_ENST00000536186.1_Missense_Mutation_p.R30W	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	325					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCTTTCCTGAGTTCATTT	0.323																																					p.R325W		Atlas-SNP	.											.	CDKL3	76	.	0			c.A973T						.						63.0	60.0	61.0					5																	133644327		1811	4070	5881	SO:0001583	missense	51265	exon8			CTTTCCTGAGTTC	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.973A>T	chr5.hg19:g.133644327T>A	ENSP00000265334:p.Arg325Trp	57.0	0.0		47.0	26.0	NM_001113575	D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	hg19	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	T	8.321	0.824201	0.16678	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.73575	0.93;0.9;-0.71;-0.48;-0.76;-0.74;-0.74	5.66	0.559	0.17272	.	0.900977	0.09696	N	0.767674	T	0.60971	0.2310	N	0.14661	0.345	0.09310	N	1	P;P;P;B;P	0.48016	0.719;0.768;0.904;0.367;0.598	B;B;P;B;B	0.48571	0.443;0.443;0.582;0.19;0.174	T	0.52275	-0.8597	10	0.62326	D	0.03	-13.2967	4.1097	0.10053	0.1438:0.2278:0.0:0.6284	.	136;30;30;136;325	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	W	30;30;325;136;325;325;325	ENSP00000441545:R30W;ENSP00000399807:R30W;ENSP00000265334:R325W;ENSP00000428500:R136W;ENSP00000428689:R325W;ENSP00000430496:R325W;ENSP00000395559:R325W	ENSP00000265334:R325W	R	-	1	2	CDKL3	133672226	0.002000	0.14202	0.000000	0.03702	0.090000	0.18270	0.677000	0.25262	-0.113000	0.11958	0.454000	0.30748	AGG	.	.		0.323	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
DDX46	9879	hgsc.bcm.edu	37	5	134109540	134109540	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:134109540A>G	ENST00000354283.4	+	5	737	c.602A>G	c.(601-603)gAg>gGg	p.E201G	DDX46_ENST00000452510.2_Missense_Mutation_p.E201G			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	201					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGAGTTTAGAGGACGATGAT	0.323																																					p.E201G	Colon(13;391 453 4901 21675 24897)	Atlas-SNP	.											.	DDX46	77	.	0			c.A602G						.						131.0	132.0	132.0					5																	134109540		2203	4300	6503	SO:0001583	missense	9879	exon5			GTTTAGAGGACGA		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.602A>G	chr5.hg19:g.134109540A>G	ENSP00000346236:p.Glu201Gly	175.0	0.0		116.0	69.0	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	hg19	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581343	0.86748	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.50813	0.73;0.73	4.84	4.84	0.62591	.	0.100791	0.64402	D	0.000003	T	0.61999	0.2392	L	0.55213	1.73	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.65619	-0.6124	10	0.72032	D	0.01	-22.5969	14.3642	0.66795	1.0:0.0:0.0:0.0	.	201	Q7L014	DDX46_HUMAN	G	201	ENSP00000416534:E201G;ENSP00000346236:E201G	ENSP00000346236:E201G	E	+	2	0	DDX46	134137439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.758000	0.91663	1.934000	0.56057	0.528000	0.53228	GAG	.	.		0.323	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
DNAJC18	202052	hgsc.bcm.edu	37	5	138760775	138760775	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:138760775T>C	ENST00000302060.5	-	5	668	c.588A>G	c.(586-588)acA>acG	p.T196T		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	196						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGTGTCATCTGTCACATTTG	0.433																																					p.T196T		Atlas-SNP	.											.	DNAJC18	30	.	0			c.A588G						.						210.0	200.0	204.0					5																	138760775		2203	4300	6503	SO:0001819	synonymous_variant	202052	exon5			GTCATCTGTCACA	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.588A>G	chr5.hg19:g.138760775T>C		57.0	0.0		53.0	27.0	NM_152686		Silent	SNP	ENST00000302060.5	hg19	CCDS4214.1																																																																																			.	.		0.433	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
PSD2	84249	hgsc.bcm.edu	37	5	139193135	139193135	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:139193135T>A	ENST00000274710.3	+	3	818	c.613T>A	c.(613-615)Ttt>Att	p.F205I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	205					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATGGCGTTTGAGGGGGA	0.687																																					p.F205I		Atlas-SNP	.											.	PSD2	88	.	0			c.T613A						.						32.0	39.0	36.0					5																	139193135		2202	4300	6502	SO:0001583	missense	84249	exon3			ATGGCGTTTGAGG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.613T>A	chr5.hg19:g.139193135T>A	ENSP00000274710:p.Phe205Ile	93.0	0.0		78.0	49.0	NM_032289	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	hg19	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	T	3.924	-0.017582	0.07681	.	.	ENSG00000146005	ENST00000274710	T	0.10763	2.84	4.52	-2.19	0.07015	.	1.227030	0.05868	N	0.624119	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41610	-0.9499	10	0.24483	T	0.36	.	2.1313	0.03751	0.1191:0.2133:0.1877:0.4799	.	205	Q9BQI7	PSD2_HUMAN	I	205	ENSP00000274710:F205I	ENSP00000274710:F205I	F	+	1	0	PSD2	139173319	0.000000	0.05858	0.330000	0.25442	0.137000	0.21094	-1.332000	0.02670	-0.125000	0.11703	-0.464000	0.05259	TTT	.	.		0.687	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
HARS	3035	hgsc.bcm.edu	37	5	140056273	140056273	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140056273T>C	ENST00000504156.1	-	10	1879	c.1160A>G	c.(1159-1161)gAg>gGg	p.E387G	HARS_ENST00000448240.1_Missense_Mutation_p.E192G|HARS_ENST00000431330.2_Missense_Mutation_p.E273G|HARS_ENST00000415192.2_Missense_Mutation_p.E313G|HARS_ENST00000307633.3_Missense_Mutation_p.E327G|HARS_ENST00000457527.2_Missense_Mutation_p.E367G|HARS_ENST00000504366.1_Missense_Mutation_p.E318G|HARS_ENST00000438307.2_Missense_Mutation_p.E347G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	387					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAAAATCCGCTCCACCCCAAT	0.567																																					p.E387G		Atlas-SNP	.											.	HARS	57	.	0			c.A1160G						.						137.0	134.0	135.0					5																	140056273		2203	4300	6503	SO:0001583	missense	3035	exon10			ATCCGCTCCACCC	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1160A>G	chr5.hg19:g.140056273T>C	ENSP00000425634:p.Glu387Gly	120.0	0.0		76.0	28.0	NM_002109	B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	hg19	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168936	0.78339	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.90177	0.6930	H	0.98048	4.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.996;0.992;0.997;0.996;0.969	D;D;D;D;D;D;D;P	0.83275	0.996;0.987;0.991;0.952;0.952;0.981;0.952;0.858	D	0.93570	0.6903	10	0.66056	D	0.02	-5.3317	16.1492	0.81602	0.0:0.0:0.0:1.0	.	277;273;313;327;347;387;367;387	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	G	387;367;273;318;327;192;347;313;277	ENSP00000425634:E387G;ENSP00000387893:E367G;ENSP00000393244:E273G;ENSP00000430063:E318G;ENSP00000304668:E327G;ENSP00000413605:E192G;ENSP00000411511:E347G;ENSP00000411085:E313G;ENSP00000425889:E277G	ENSP00000304668:E327G	E	-	2	0	HARS	140036457	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.841000	0.86834	2.272000	0.75746	0.460000	0.39030	GAG	.	.		0.567	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109	
PCDHA3	56145	hgsc.bcm.edu	37	5	140180880	140180880	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140180880A>T	ENST00000522353.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.Y33F|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	33	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCCACTACTCCGTCTCT	0.662																																					p.Y33F		Atlas-SNP	.											.	PCDHA3	396	.	0			c.A98T						.						58.0	64.0	62.0					5																	140180880		2203	4300	6503	SO:0001583	missense	56145	exon1			TCCACTACTCCGT	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.98A>T	chr5.hg19:g.140180880A>T	ENSP00000429808:p.Tyr33Phe	25.0	0.0		34.0	17.0	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	hg19	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	16.11	3.029917	0.54790	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53857	0.6;0.6	4.65	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35646	U	0.003076	T	0.78220	0.4249	M	0.92412	3.305	0.39206	D	0.963235	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.892	D	0.85273	0.1057	10	0.72032	D	0.01	.	14.4173	0.67158	1.0:0.0:0.0:0.0	.	33;33	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	F	33	ENSP00000429808:Y33F;ENSP00000434086:Y33F	ENSP00000429808:Y33F	Y	+	2	0	PCDHA3	140161064	1.000000	0.71417	0.998000	0.56505	0.158000	0.22134	7.116000	0.77119	1.874000	0.54306	0.477000	0.44152	TAC	.	.		0.662	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA7	56141	hgsc.bcm.edu	37	5	140215472	140215472	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140215472C>G	ENST00000525929.1	+	1	1504	c.1504C>G	c.(1504-1506)Cgc>Ggc	p.R502G	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R502G|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGCGCGCTGTC	0.682																																					p.R502G	NSCLC(160;258 2013 5070 22440 28951)	Atlas-SNP	.											.	PCDHA7	367	.	0			c.C1504G						.						63.0	67.0	65.0					5																	140215472		2203	4297	6500	SO:0001583	missense	56141	exon1			GGCGAGCGCGCGC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1504C>G	chr5.hg19:g.140215472C>G	ENSP00000436426:p.Arg502Gly	53.0	0.0		50.0	14.0	NM_031852	O75282	Missense_Mutation	SNP	ENST00000525929.1	hg19	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866848	0.17250	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01034	5.42;5.42	4.01	3.11	0.35812	Cadherin (4);Cadherin-like (1);	0.000000	0.31797	U	0.007047	T	0.01489	0.0048	N	0.16656	0.425	0.22127	N	0.999346	B;B	0.30179	0.103;0.271	B;P	0.46479	0.099;0.518	T	0.47824	-0.9087	10	0.51188	T	0.08	.	11.0894	0.48106	0.3367:0.6633:0.0:0.0	.	502;502	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	G	502	ENSP00000436426:R502G;ENSP00000367365:R502G	ENSP00000367365:R502G	R	+	1	0	PCDHA7	140195656	0.000000	0.05858	0.991000	0.47740	0.317000	0.28152	-0.386000	0.07370	0.764000	0.33197	0.306000	0.20318	CGC	.	.		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHA10	56139	hgsc.bcm.edu	37	5	140237048	140237048	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140237048A>T	ENST00000307360.5	+	1	1415	c.1415A>T	c.(1414-1416)cAc>cTc	p.H472L	PCDHA10_ENST00000506939.2_Missense_Mutation_p.H472L|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCTGCCACATCTTCACG	0.657																																					p.H472L		Atlas-SNP	.											.	PCDHA10	358	.	0			c.A1415T						.						91.0	89.0	90.0					5																	140237048		2196	4271	6467	SO:0001583	missense	56139	exon1			GCTGCCACATCTT	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1415A>T	chr5.hg19:g.140237048A>T	ENSP00000304234:p.His472Leu	94.0	0.0		78.0	72.0	NM_031859	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	8.225	0.803292	0.16397	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.49432	4.71;0.78	3.86	3.86	0.44501	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.27134	0.0665	N	0.04655	-0.195	0.09310	N	1	B;B;P	0.40638	0.332;0.095;0.725	P;B;B	0.44359	0.447;0.16;0.236	T	0.07252	-1.0782	9	0.08599	T	0.76	.	9.8241	0.40901	0.8469:0.0:0.0:0.1531	.	472;472;472	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	472	ENSP00000421030:H472L;ENSP00000304234:H472L	ENSP00000304234:H472L	H	+	2	0	PCDHA10	140217232	0.000000	0.05858	1.000000	0.80357	0.558000	0.35554	-0.065000	0.11617	1.744000	0.51775	0.454000	0.30748	CAC	.	.		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA10	56139	hgsc.bcm.edu	37	5	140237342	140237342	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140237342G>T	ENST00000307360.5	+	1	1709	c.1709G>T	c.(1708-1710)gGc>gTc	p.G570V	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	570					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGCTGGCAGCGCGGGC	0.677																																					p.G570V		Atlas-SNP	.											.	PCDHA10	358	.	0			c.G1709T						.						32.0	33.0	33.0					5																	140237342		1322	2288	3610	SO:0001583	missense	56139	exon1			CCGCTGGCAGCGC	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1709G>T	chr5.hg19:g.140237342G>T	ENSP00000304234:p.Gly570Val	25.0	0.0		24.0	21.0	NM_031859	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	hg19	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	0.195	-1.049638	0.01981	.	.	ENSG00000250120	ENST00000307360	T	0.54279	0.58	3.46	2.58	0.30949	Cadherin-like (1);	.	.	.	.	T	0.27419	0.0673	N	0.10916	0.065	0.09310	N	1	B;B	0.22983	0.078;0.001	B;B	0.23852	0.049;0.02	T	0.15009	-1.0452	9	0.34782	T	0.22	.	0.8384	0.01145	0.2023:0.1532:0.3869:0.2576	.	570;570	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	570	ENSP00000304234:G570V	ENSP00000304234:G570V	G	+	2	0	PCDHA10	140217526	0.000000	0.05858	0.003000	0.11579	0.054000	0.15201	-2.442000	0.01014	0.787000	0.33731	0.491000	0.48974	GGC	.	.		0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA12	56137	hgsc.bcm.edu	37	5	140257188	140257188	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140257188C>T	ENST00000398631.2	+	1	2131	c.2131C>T	c.(2131-2133)Ctg>Ttg	p.L711L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	711					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAGCCTGCTGGTGCTCAC	0.672																																					p.L711L	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											.	PCDHA12	196	.	0			c.C2131T						.						40.0	40.0	40.0					5																	140257188		2203	4299	6502	SO:0001819	synonymous_variant	56137	exon1			AGCCTGCTGGTGC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2131C>T	chr5.hg19:g.140257188C>T		78.0	0.0		67.0	36.0	NM_018903	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	hg19	CCDS47285.1																																																																																			.	.		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHA13	56136	hgsc.bcm.edu	37	5	140263324	140263324	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140263324T>A	ENST00000289272.2	+	1	1471	c.1471T>A	c.(1471-1473)Tcc>Acc	p.S491T	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S491T|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	491	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGGTCTCCTACTCGCT	0.657																																					p.S491T	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.T1471A						.						70.0	72.0	71.0					5																	140263324		2203	4299	6502	SO:0001583	missense	56136	exon1			CTGGTCTCCTACT	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1471T>A	chr5.hg19:g.140263324T>A	ENSP00000289272:p.Ser491Thr	102.0	0.0		80.0	37.0	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	hg19	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	7.509	0.654214	0.14580	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	4.62	3.43	0.39272	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35566	0.0936	N	0.17564	0.495	0.21499	N	0.999663	P;P;P	0.46457	0.878;0.593;0.852	P;B;P	0.48524	0.58;0.29;0.546	T	0.08889	-1.0700	9	0.17832	T	0.49	.	8.3569	0.32335	0.4941:0.0:0.0:0.5059	.	491;491;491	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	491	ENSP00000386821:S491T;ENSP00000289272:S491T	ENSP00000289272:S491T	S	+	1	0	PCDHA13	140243508	0.000000	0.05858	0.999000	0.59377	0.363000	0.29612	-0.634000	0.05477	0.768000	0.33290	0.454000	0.30748	TCC	.	.		0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB3	56132	hgsc.bcm.edu	37	5	140480277	140480277	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140480277T>C	ENST00000231130.2	+	1	44	c.44T>C	c.(43-45)tTg>tCg	p.L15S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCTTGCTTCTCTTT	0.507																																					p.L15S		Atlas-SNP	.											.	PCDHB3	208	.	0			c.T44C						.						92.0	103.0	99.0					5																	140480277		2203	4300	6503	SO:0001583	missense	56132	exon1			AAGTCTTGCTTCT	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.44T>C	chr5.hg19:g.140480277T>C	ENSP00000231130:p.Leu15Ser	112.0	0.0		77.0	29.0	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722321	0.48728	.	.	ENSG00000113205	ENST00000231130	T	0.55234	0.53	4.77	3.6	0.41247	.	.	.	.	.	T	0.55816	0.1944	M	0.91818	3.245	0.09310	N	1	P	0.38148	0.62	B	0.28232	0.087	T	0.60203	-0.7309	9	0.66056	D	0.02	.	9.7615	0.40534	0.0:0.0833:0.0:0.9167	.	15	Q9Y5E6	PCDB3_HUMAN	S	15	ENSP00000231130:L15S	ENSP00000231130:L15S	L	+	2	0	PCDHB3	140460461	0.038000	0.19896	0.931000	0.37212	0.976000	0.68499	2.445000	0.44899	1.904000	0.55121	0.533000	0.62120	TTG	.	.		0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB10	56126	hgsc.bcm.edu	37	5	140572209	140572209	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140572209T>C	ENST00000239446.4	+	1	268	c.84T>C	c.(82-84)tcT>tcC	p.S28S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	28					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCAGGTTCTGGGTTTGGAC	0.493																																					p.S28S		Atlas-SNP	.											.	PCDHB10	177	.	0			c.T84C						.						93.0	105.0	101.0					5																	140572209		2203	4300	6503	SO:0001819	synonymous_variant	56126	exon1			AGGTTCTGGGTTT	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.84T>C	chr5.hg19:g.140572209T>C		377.0	0.0		290.0	146.0	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	hg19	CCDS4252.1																																																																																			.	.		0.493	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHGA3	56112	hgsc.bcm.edu	37	5	140725276	140725276	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140725276C>T	ENST00000253812.6	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCCGAGATC	0.637																																					p.A559V		Atlas-SNP	.											PCDHGA3_ENST00000253812,extremity,malignant_melanoma,+1,1	PCDHGA3	246	.	0			c.C1676T						.						124.0	136.0	132.0					5																	140725276		2203	4300	6503	SO:0001583	missense	56112	exon1			ACAACGCGCCCGA	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1676C>T	chr5.hg19:g.140725276C>T	ENSP00000253812:p.Ala559Val	92.0	0.0		68.0	26.0	NM_032011	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	7.930	0.740437	0.15642	.	.	ENSG00000254245	ENST00000253812	T	0.61510	0.1	5.42	1.51	0.23008	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.262435	0.19309	U	0.117443	T	0.53769	0.1817	M	0.70275	2.135	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.24394	0.053;0.01	T	0.49390	-0.8945	10	0.44086	T	0.13	.	9.1398	0.36897	0.0:0.6861:0.0:0.3139	.	559;559	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	559	ENSP00000253812:A559V	ENSP00000253812:A559V	A	+	2	0	PCDHGA3	140705460	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.500000	0.22562	0.047000	0.15862	0.563000	0.77884	GCG	.	.		0.637	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGB3	56102	hgsc.bcm.edu	37	5	140751344	140751344	+	Silent	SNP	A	A	T	rs368442078		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140751344A>T	ENST00000576222.1	+	1	1514	c.1383A>T	c.(1381-1383)gtA>gtT	p.V461V	PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGCATGTAGCTGAGAACA	0.562																																					p.V461V		Atlas-SNP	.											.	PCDHGB3	168	.	0			c.A1383T						.						147.0	151.0	149.0					5																	140751344		2141	4252	6393	SO:0001819	synonymous_variant	56102	exon1			GCATGTAGCTGAG	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1383A>T	chr5.hg19:g.140751344A>T		93.0	0.0		64.0	33.0	NM_018924	A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																			.	.		0.562	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA10	56106	hgsc.bcm.edu	37	5	140793269	140793269	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140793269T>A	ENST00000398610.2	+	1	527	c.527T>A	c.(526-528)cTc>cAc	p.L176H	PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	176	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTATCAGCTCAGCCCCAAT	0.532																																					p.L176H		Atlas-SNP	.											.	PCDHGA10	114	.	0			c.T527A						.						33.0	35.0	34.0					5																	140793269		1949	4147	6096	SO:0001583	missense	56106	exon1			ATCAGCTCAGCCC		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.527T>A	chr5.hg19:g.140793269T>A	ENSP00000381611:p.Leu176His	68.0	0.0		54.0	36.0	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	hg19	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	t	20.5	4.009308	0.75046	.	.	ENSG00000253846	ENST00000398610	T	0.56941	0.43	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86108	0.5854	H	0.99884	4.89	0.39070	D	0.960708	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93462	0.6811	9	0.87932	D	0	.	15.5896	0.76517	0.0:0.0:0.0:1.0	.	176;176	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	H	176	ENSP00000381611:L176H	ENSP00000381611:L176H	L	+	2	0	PCDHGA10	140773453	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	8.040000	0.89188	2.094000	0.63399	0.455000	0.32223	CTC	.	.		0.532	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGA10	56106	hgsc.bcm.edu	37	5	140794504	140794504	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140794504C>T	ENST00000398610.2	+	1	1762	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGCAGAGCCCGGCTACCT	0.667																																					p.P588S		Atlas-SNP	.											.	PCDHGA10	114	.	0			c.C1762T						.						81.0	96.0	91.0					5																	140794504		2200	4299	6499	SO:0001583	missense	56106	exon1			GCAGAGCCCGGCT		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1762C>T	chr5.hg19:g.140794504C>T	ENSP00000381611:p.Pro588Ser	50.0	0.0		45.0	13.0	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	hg19	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	12.48	1.950839	0.34471	.	.	ENSG00000253846	ENST00000398610	T	0.60797	0.16	5.63	3.82	0.43975	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.63570	0.2522	M	0.74546	2.27	0.22401	N	0.999131	B;B	0.33748	0.423;0.34	B;B	0.42282	0.382;0.367	T	0.56625	-0.7948	9	0.48119	T	0.1	.	10.6324	0.45545	0.0:0.6833:0.2479:0.0688	.	588;588	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	588	ENSP00000381611:P588S	ENSP00000381611:P588S	P	+	1	0	PCDHGA10	140774688	0.002000	0.14202	0.920000	0.36463	0.959000	0.62525	1.148000	0.31614	0.717000	0.32145	-0.182000	0.12963	CCC	.	.		0.667	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140856012	140856012	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:140856012T>C	ENST00000308177.3	+	1	433	c.329T>C	c.(328-330)tTg>tCg	p.L110S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTGGAGTTGGTAGTGGAG	0.532																																					p.L110S		Atlas-SNP	.											.	PCDHGC3	173	.	0			c.T329C						.						95.0	97.0	96.0					5																	140856012		2203	4300	6503	SO:0001583	missense	5098	exon1			TGGAGTTGGTAGT	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.329T>C	chr5.hg19:g.140856012T>C	ENSP00000312070:p.Leu110Ser	108.0	0.0		95.0	61.0	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	hg19	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.845296	0.51164	.	.	ENSG00000240184	ENST00000308177	T	0.38887	1.11	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.58637	0.2136	M	0.77103	2.36	0.24690	N	0.993312	P;D	0.56287	0.92;0.975	P;P	0.56343	0.578;0.796	T	0.57528	-0.7796	9	0.66056	D	0.02	.	10.362	0.44001	0.0:0.0721:0.0:0.9278	.	110;110	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	S	110	ENSP00000312070:L110S	ENSP00000312070:L110S	L	+	2	0	PCDHGC3	140836196	0.999000	0.42202	1.000000	0.80357	0.885000	0.51271	4.095000	0.57728	2.371000	0.80710	0.533000	0.62120	TTG	.	.		0.532	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
ADRB2	154	hgsc.bcm.edu	37	5	148206948	148206948	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:148206948A>G	ENST00000305988.4	+	1	793	c.554A>G	c.(553-555)tAt>tGt	p.Y185C		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	185					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	ATCAACTGCTATGCCAATGAG	0.527																																					p.Y185C		Atlas-SNP	.											.	ADRB2	42	.	0			c.A554G						.						270.0	228.0	242.0					5																	148206948		2203	4300	6503	SO:0001583	missense	154	exon1			ACTGCTATGCCAA	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.554A>G	chr5.hg19:g.148206948A>G	ENSP00000305372:p.Tyr185Cys	53.0	0.0		51.0	19.0	NM_000024	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	hg19	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775355	0.49786	.	.	ENSG00000169252	ENST00000305988	T	0.37915	1.17	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.343376	0.31113	N	0.008223	T	0.62208	0.2409	M	0.78344	2.41	0.42057	D	0.991142	D	0.89917	1.0	D	0.81914	0.995	T	0.67177	-0.5736	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	185	P07550	ADRB2_HUMAN	C	185	ENSP00000305372:Y185C	ENSP00000305372:Y185C	Y	+	2	0	ADRB2	148187141	0.994000	0.37717	0.942000	0.38095	0.942000	0.58702	2.925000	0.48884	2.371000	0.80710	0.533000	0.62120	TAT	.	.		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024	
SH3TC2	79628	hgsc.bcm.edu	37	5	148406142	148406142	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:148406142T>A	ENST00000515425.1	-	12	3147	c.3046A>T	c.(3046-3048)Acc>Tcc	p.T1016S	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Missense_Mutation_p.T1009S|SH3TC2_ENST00000394358.2_3'UTR|SH3TC2_ENST00000538184.1_Missense_Mutation_p.T563S	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1016					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGCGGTATTTAGGTTC	0.542																																					p.T1016S		Atlas-SNP	.											.	SH3TC2	178	.	0			c.A3046T						.						82.0	88.0	86.0					5																	148406142		2203	4300	6503	SO:0001583	missense	79628	exon12			TGGCGGTATTTAG	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3046A>T	chr5.hg19:g.148406142T>A	ENSP00000423660:p.Thr1016Ser	167.0	0.0		126.0	58.0	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213916	0.58452	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	D;T;T	0.82255	-1.59;-1.14;-1.15	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	L	0.60845	1.875	0.80722	D	1	D;D;D	0.54397	0.966;0.966;0.966	P;P;P	0.49799	0.622;0.622;0.622	D	0.86694	0.1925	10	0.66056	D	0.02	-11.1515	15.5409	0.76048	0.0:0.0:0.0:1.0	.	1009;1016;1016	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	S	563;1016;1009	ENSP00000441427:T563S;ENSP00000423660:T1016S;ENSP00000421860:T1009S	ENSP00000425627:T1016S	T	-	1	0	SH3TC2	148386335	1.000000	0.71417	0.950000	0.38849	0.005000	0.04900	5.533000	0.67160	2.254000	0.74563	0.482000	0.46254	ACC	.	.		0.542	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
CAMK2A	815	hgsc.bcm.edu	37	5	149602599	149602599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:149602599C>T	ENST00000348628.6	-	17	2051	c.1386G>A	c.(1384-1386)tgG>tgA	p.W462*	CAMK2A_ENST00000398376.3_Nonsense_Mutation_p.W473*|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	462					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACGATCTGCCATTTGCCAT	0.627																																					p.W473X		Atlas-SNP	.											.	CAMK2A	42	.	0			c.G1419A						.						70.0	83.0	78.0					5																	149602599		2184	4293	6477	SO:0001587	stop_gained	815	exon18			GATCTGCCATTTG	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1386G>A	chr5.hg19:g.149602599C>T	ENSP00000261793:p.Trp462*	61.0	0.0		39.0	20.0	NM_015981	Q9UL21|Q9Y2H4|Q9Y352	Nonsense_Mutation	SNP	ENST00000348628.6	hg19	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	44	10.921969	0.99489	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6945	0.91596	0.0:1.0:0.0:0.0	.	.	.	.	X	462;473	.	ENSP00000261793:W462X	W	-	3	0	CAMK2A	149582792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.419000	0.82065	0.555000	0.69702	TGG	.	.		0.627	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981	
SLC36A2	153201	hgsc.bcm.edu	37	5	150704910	150704910	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:150704910A>T	ENST00000335244.4	-	8	1076	c.947T>A	c.(946-948)cTg>cAg	p.L316Q	SLC36A2_ENST00000521967.1_Missense_Mutation_p.L316Q|SLC36A2_ENST00000450886.1_Missense_Mutation_p.L40Q	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	316					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CAGGTAGCCCAGAGCCGCCAT	0.537																																					p.L316Q		Atlas-SNP	.											.	SLC36A2	71	.	0			c.T947A						.						86.0	72.0	77.0					5																	150704910		2203	4300	6503	SO:0001583	missense	153201	exon8			TAGCCCAGAGCCG	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.947T>A	chr5.hg19:g.150704910A>T	ENSP00000334223:p.Leu316Gln	69.0	0.0		40.0	17.0	NM_181776	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	hg19	CCDS4315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.94|18.94	3.729237|3.729237	0.69074|0.69074	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967|ENST00000523044	T;T;T|.	0.02656|.	4.21;4.21;4.21|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.076390|.	0.56097|.	D|.	0.000039|.	D|D	0.86016|0.86016	0.5832|0.5832	H|H	0.94306|0.94306	3.52|3.52	0.50171|0.50171	D|D	0.999855|0.999855	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	D|D	0.90122|0.90122	0.4200|0.4200	10|5	0.72032|.	D|.	0.01|.	-13.885|-13.885	14.8532|14.8532	0.70313|0.70313	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	316;316|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	Q|R	316;40;316|69	ENSP00000334223:L316Q;ENSP00000399479:L40Q;ENSP00000430535:L316Q|.	ENSP00000334223:L316Q|.	L|W	-|-	2|1	0|0	SLC36A2|SLC36A2	150685103|150685103	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.416000|0.416000	0.31233|0.31233	8.727000|8.727000	0.91480|0.91480	2.150000|2.150000	0.67090|0.67090	0.383000|0.383000	0.25322|0.25322	CTG|TGG	.	.		0.537	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
FAT2	2196	hgsc.bcm.edu	37	5	150945854	150945854	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:150945854T>G	ENST00000261800.5	-	1	2651	c.2639A>C	c.(2638-2640)cAc>cCc	p.H880P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	880	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGTCCAGGTGTCCTGTAAC	0.562																																					p.H880P		Atlas-SNP	.											.	FAT2	465	.	0			c.A2639C						.						97.0	93.0	94.0					5																	150945854		2203	4300	6503	SO:0001583	missense	2196	exon1			TCCAGGTGTCCTG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2639A>C	chr5.hg19:g.150945854T>G	ENSP00000261800:p.His880Pro	107.0	0.0		84.0	33.0	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	0.829	-0.745787	0.03065	.	.	ENSG00000086570	ENST00000261800	T	0.43294	0.95	5.67	-3.45	0.04781	Cadherin (4);Cadherin-like (1);	0.720404	0.13315	N	0.397194	T	0.09992	0.0245	N	0.00260	-1.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37549	-0.9701	10	0.05525	T	0.97	.	16.3018	0.82820	0.0:0.0732:0.7722:0.1546	.	880	Q9NYQ8	FAT2_HUMAN	P	880	ENSP00000261800:H880P	ENSP00000261800:H880P	H	-	2	0	FAT2	150926047	0.002000	0.14202	0.012000	0.15200	0.819000	0.46315	0.642000	0.24735	-0.454000	0.07066	0.459000	0.35465	CAC	.	.		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	hgsc.bcm.edu	37	5	150946124	150946124	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:150946124A>G	ENST00000261800.5	-	1	2381	c.2369T>C	c.(2368-2370)gTa>gCa	p.V790A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	790	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATACTGTTACATTGAGGAT	0.517																																					p.V790A		Atlas-SNP	.											.	FAT2	465	.	0			c.T2369C						.						77.0	75.0	75.0					5																	150946124		2203	4300	6503	SO:0001583	missense	2196	exon1			ACTGTTACATTGA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2369T>C	chr5.hg19:g.150946124A>G	ENSP00000261800:p.Val790Ala	52.0	0.0		51.0	24.0	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929958	0.52759	.	.	ENSG00000086570	ENST00000261800	T	0.59364	0.27	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	0.546274	0.17783	N	0.162145	T	0.60599	0.2281	M	0.70842	2.15	0.43199	D	0.995045	P	0.36990	0.577	B	0.36378	0.223	T	0.65813	-0.6077	10	0.87932	D	0	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	790	Q9NYQ8	FAT2_HUMAN	A	790	ENSP00000261800:V790A	ENSP00000261800:V790A	V	-	2	0	FAT2	150926317	1.000000	0.71417	0.072000	0.20136	0.900000	0.52787	7.500000	0.81588	2.333000	0.79357	0.533000	0.62120	GTA	.	.		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAXDC2	10826	hgsc.bcm.edu	37	5	154200873	154200873	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:154200873G>A	ENST00000326080.5	-	8	1215	c.792C>T	c.(790-792)ggC>ggT	p.G264G	FAXDC2_ENST00000517938.1_Silent_p.G241G|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	264					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										GAAGGTGGTAGCCACAGTGGG	0.542																																					p.G264G		Atlas-SNP	.											.	.	.	.	0			c.C792T						.						211.0	220.0	217.0					5																	154200873		2126	4233	6359	SO:0001819	synonymous_variant	10826	exon8			GTGGTAGCCACAG	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.792C>T	chr5.hg19:g.154200873G>A		217.0	1.0		164.0	83.0	NM_032385	B4DIE1|Q9BSX6|Q9H8C7	Silent	SNP	ENST00000326080.5	hg19	CCDS43390.1																																																																																			.	.		0.542	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	
GEMIN5	25929	hgsc.bcm.edu	37	5	154287223	154287223	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:154287223T>C	ENST00000285873.7	-	16	2398	c.2323A>G	c.(2323-2325)Aat>Gat	p.N775D		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	775					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GACACACCATTCTCAACAGGT	0.488																																					p.N775D		Atlas-SNP	.											.	GEMIN5	120	.	0			c.A2323G						.						178.0	160.0	166.0					5																	154287223		2203	4300	6503	SO:0001583	missense	25929	exon16			CACCATTCTCAAC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2323A>G	chr5.hg19:g.154287223T>C	ENSP00000285873:p.Asn775Asp	132.0	0.0		89.0	28.0	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	hg19	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094565	0.56075	.	.	ENSG00000082516	ENST00000285873	T	0.71698	-0.59	5.63	5.63	0.86233	.	0.160638	0.56097	D	0.000040	T	0.82038	0.4950	M	0.67953	2.075	0.41155	D	0.986053	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.83344	-0.0006	10	0.52906	T	0.07	-25.1726	14.6746	0.68969	0.0:0.0:0.0:1.0	.	774;775	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	D	775	ENSP00000285873:N775D	ENSP00000285873:N775D	N	-	1	0	GEMIN5	154267416	1.000000	0.71417	0.952000	0.39060	0.279000	0.26890	3.072000	0.50049	2.137000	0.66172	0.460000	0.39030	AAT	.	.		0.488	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
GEMIN5	25929	hgsc.bcm.edu	37	5	154317547	154317547	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:154317547T>C	ENST00000285873.7	-	1	222	c.147A>G	c.(145-147)ccA>ccG	p.P49P		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	49					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGGTGTCCCTGGACTCTCGC	0.701																																					p.P49P		Atlas-SNP	.											.	GEMIN5	120	.	0			c.A147G						.						19.0	22.0	21.0					5																	154317547		2200	4299	6499	SO:0001819	synonymous_variant	25929	exon1			TGTCCCTGGACTC	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.147A>G	chr5.hg19:g.154317547T>C		139.0	0.0		127.0	60.0	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	hg19	CCDS4330.1																																																																																			.	.		0.701	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
SOX30	11063	hgsc.bcm.edu	37	5	157065688	157065688	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:157065688T>A	ENST00000265007.6	-	4	1771	c.1430A>T	c.(1429-1431)cAg>cTg	p.Q477L	SOX30_ENST00000311371.5_Intron|SOX30_ENST00000519442.1_Missense_Mutation_p.Q172L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	477					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTTGGGCTCTGGACTGCAGG	0.493																																					p.Q477L	Esophageal Squamous(31;525 799 19355 21125 41744)	Atlas-SNP	.											SOX30,NS,haematopoietic_neoplasm,0,1	SOX30	67	.	0			c.A1430T						.						62.0	63.0	63.0					5																	157065688		2203	4300	6503	SO:0001583	missense	11063	exon4			GGGCTCTGGACTG	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1430A>T	chr5.hg19:g.157065688T>A	ENSP00000265007:p.Gln477Leu	71.0	0.0		55.0	29.0	NM_178424	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	hg19	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183815	0.78677	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98105	-4.43;-4.72	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000028	D	0.97294	0.9115	L	0.27053	0.805	0.43959	D	0.996639	P;D	0.63880	0.682;0.993	B;D	0.69824	0.307;0.966	D	0.98452	1.0592	10	0.87932	D	0	.	14.1601	0.65441	0.0:0.0:0.0:1.0	.	172;477	B4DXW7;O94993	.;SOX30_HUMAN	L	477;172	ENSP00000265007:Q477L;ENSP00000427984:Q172L	ENSP00000265007:Q477L	Q	-	2	0	SOX30	156998266	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.497000	0.53295	2.088000	0.63022	0.528000	0.53228	CAG	.	.		0.493	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
PWWP2A	114825	hgsc.bcm.edu	37	5	159519900	159519900	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:159519900T>A	ENST00000307063.7	-	2	1791	c.1757A>T	c.(1756-1758)gAt>gTt	p.D586V	PWWP2A_ENST00000456329.3_Intron|PWWP2A_ENST00000523662.1_Intron	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	586	Ser-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTGTGCTATCAATGCTACA	0.413																																					p.D586V		Atlas-SNP	.											.	PWWP2A	64	.	0			c.A1757T						.						111.0	94.0	99.0					5																	159519900		692	1591	2283	SO:0001583	missense	114825	exon2			GTGCTATCAATGC		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1757A>T	chr5.hg19:g.159519900T>A	ENSP00000305151:p.Asp586Val	41.0	0.0		33.0	13.0	NM_001130864	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	hg19	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223178	0.58668	.	.	ENSG00000170234	ENST00000307063	T	0.64618	-0.11	5.78	5.78	0.91487	.	.	.	.	.	T	0.70219	0.3199	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.73949	-0.3821	9	0.87932	D	0	-21.4486	15.7761	0.78220	0.0:0.0:0.0:1.0	.	586	Q96N64	PWP2A_HUMAN	V	586	ENSP00000305151:D586V	ENSP00000305151:D586V	D	-	2	0	PWWP2A	159452478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.109000	0.71528	2.200000	0.70718	0.460000	0.39030	GAT	.	.		0.413	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1		
PWWP2A	114825	hgsc.bcm.edu	37	5	159519933	159519933	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:159519933G>C	ENST00000307063.7	-	2	1758	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	PWWP2A_ENST00000456329.3_Intron|PWWP2A_ENST00000523662.1_Intron	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	575	Ser-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGAGTCAGATTTCTTTTG	0.403																																					p.S575C		Atlas-SNP	.											.	PWWP2A	64	.	0			c.C1724G						.						142.0	118.0	125.0					5																	159519933		692	1591	2283	SO:0001583	missense	114825	exon2			GAGTCAGATTTCT		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1724C>G	chr5.hg19:g.159519933G>C	ENSP00000305151:p.Ser575Cys	45.0	0.0		39.0	17.0	NM_001130864	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	hg19	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648727	0.29336	.	.	ENSG00000170234	ENST00000307063	T	0.57752	0.38	5.78	4.89	0.63831	.	.	.	.	.	T	0.41373	0.1156	N	0.19112	0.55	0.38882	D	0.95693	B	0.09022	0.002	B	0.09377	0.004	T	0.33929	-0.9849	9	0.72032	D	0.01	-5.727	16.3168	0.82931	0.0:0.1326:0.8674:0.0	.	575	Q96N64	PWP2A_HUMAN	C	575	ENSP00000305151:S575C	ENSP00000305151:S575C	S	-	2	0	PWWP2A	159452511	1.000000	0.71417	0.833000	0.33012	0.986000	0.74619	7.467000	0.80930	1.402000	0.46780	0.563000	0.77884	TCT	.	.		0.403	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1		
GABRB2	2561	hgsc.bcm.edu	37	5	160753450	160753450	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:160753450A>G	ENST00000393959.1	-	9	1115	c.1116T>C	c.(1114-1116)taT>taC	p.Y372Y	GABRB2_ENST00000274547.2_Silent_p.Y372Y|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	372					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	acaaggatcgatattgggtcc	0.383																																					p.Y372Y		Atlas-SNP	.											.	GABRB2	161	.	0			c.T1116C						.						103.0	104.0	104.0					5																	160753450		2203	4300	6503	SO:0001819	synonymous_variant	2561	exon10			GGATCGATATTGG		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1116T>C	chr5.hg19:g.160753450A>G		53.0	0.0		55.0	16.0	NM_021911	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	hg19	CCDS4355.1																																																																																			.	.		0.383	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
DOCK2	1794	hgsc.bcm.edu	37	5	169122911	169122911	+	Silent	SNP	G	G	T	rs199921409		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:169122911G>T	ENST00000256935.8	+	10	1028	c.948G>T	c.(946-948)acG>acT	p.T316T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	316					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGTGCACGCAGGGACTGA	0.453																																					p.T316T		Atlas-SNP	.											.	DOCK2	389	.	0			c.G948T						.						75.0	77.0	76.0					5																	169122911		2203	4300	6503	SO:0001819	synonymous_variant	1794	exon10			GTGCACGCAGGGA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.948G>T	chr5.hg19:g.169122911G>T		75.0	0.0		56.0	16.0	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	hg19	CCDS4371.1																																																																																			.	G|0.999;A|0.001		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	hgsc.bcm.edu	37	5	169144485	169144485	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:169144485A>T	ENST00000256935.8	+	21	2209	c.2129A>T	c.(2128-2130)tAc>tTc	p.Y710F	DOCK2_ENST00000520908.1_Missense_Mutation_p.Y202F|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	710					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTTGGCTTACAAGTAAGTA	0.448																																					p.Y710F		Atlas-SNP	.											.	DOCK2	389	.	0			c.A2129T						.						193.0	162.0	173.0					5																	169144485		2203	4300	6503	SO:0001583	missense	1794	exon21			TGGCTTACAAGTA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2129A>T	chr5.hg19:g.169144485A>T	ENSP00000256935:p.Tyr710Phe	96.0	0.0		64.0	35.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850834	0.71719	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.21191	2.02;2.02	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	L	0.56769	1.78	0.80722	D	1	D;D	0.65815	0.995;0.993	D;P	0.63113	0.911;0.753	T	0.09037	-1.0693	10	0.35671	T	0.21	.	15.1005	0.72273	1.0:0.0:0.0:0.0	.	202;710	E7ERW7;Q92608	.;DOCK2_HUMAN	F	710;202	ENSP00000256935:Y710F;ENSP00000429283:Y202F	ENSP00000256935:Y710F	Y	+	2	0	DOCK2	169077063	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.192000	0.94947	1.968000	0.57251	0.533000	0.62120	TAC	.	.		0.448	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	hgsc.bcm.edu	37	5	169188534	169188534	+	Missense_Mutation	SNP	A	A	C	rs370192291		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:169188534A>C	ENST00000256935.8	+	25	2539	c.2459A>C	c.(2458-2460)tAt>tCt	p.Y820S	DOCK2_ENST00000520908.1_Missense_Mutation_p.Y312S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	820					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAACTCCTGTATGAGTTCTAC	0.488																																					p.Y820S		Atlas-SNP	.											.	DOCK2	389	.	0			c.A2459C						.						198.0	181.0	187.0					5																	169188534		2203	4300	6503	SO:0001583	missense	1794	exon25			TCCTGTATGAGTT	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2459A>C	chr5.hg19:g.169188534A>C	ENSP00000256935:p.Tyr820Ser	77.0	0.0		52.0	20.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	hg19	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674531	0.29693	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.27402	1.67;1.67;1.67	5.67	5.67	0.87782	.	0.110120	0.64402	D	0.000005	T	0.18341	0.0440	N	0.10874	0.06	0.80722	D	1	P;P	0.38922	0.651;0.651	B;B	0.38428	0.15;0.273	T	0.10636	-1.0621	10	0.16896	T	0.51	.	15.1959	0.73088	1.0:0.0:0.0:0.0	.	312;820	E7ERW7;Q92608	.;DOCK2_HUMAN	S	820;201;312;24	ENSP00000256935:Y820S;ENSP00000429283:Y312S;ENSP00000428841:Y24S	ENSP00000256935:Y820S	Y	+	2	0	DOCK2	169121112	1.000000	0.71417	0.932000	0.37286	0.993000	0.82548	4.195000	0.58400	2.288000	0.76882	0.533000	0.62120	TAT	.	.		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
STC2	8614	hgsc.bcm.edu	37	5	172744894	172744894	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:172744894C>A	ENST00000265087.4	-	4	2174	c.865G>T	c.(865-867)Gag>Tag	p.E289*	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	289					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCCCACTCGCTGCTTCCG	0.577																																					p.E289X		Atlas-SNP	.											STC2,lower_third,carcinoma,0,1	STC2	59	.	0			c.G865T						.						83.0	87.0	85.0					5																	172744894		2203	4300	6503	SO:0001587	stop_gained	8614	exon4			CCCACTCGCTGCT	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.865G>T	chr5.hg19:g.172744894C>A	ENSP00000265087:p.Glu289*	76.0	2.0		49.0	22.0	NM_003714		Nonsense_Mutation	SNP	ENST00000265087.4	hg19	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	48	14.654425	0.99804	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.3	5.3	0.74995	.	0.167000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-29.9991	18.9971	0.92818	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000265087:E289X	E	-	1	0	STC2	172677500	1.000000	0.71417	0.991000	0.47740	0.792000	0.44763	3.549000	0.53681	2.480000	0.83734	0.650000	0.86243	GAG	.	.		0.577	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	
NSD1	64324	hgsc.bcm.edu	37	5	176637954	176637954	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:176637954A>G	ENST00000439151.2	+	5	2599	c.2554A>G	c.(2554-2556)Ata>Gta	p.I852V	NSD1_ENST00000361032.4_Missense_Mutation_p.I749V|NSD1_ENST00000347982.4_Missense_Mutation_p.I583V|NSD1_ENST00000354179.4_Missense_Mutation_p.I583V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	852					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCAAGTGACATAGAAACAGC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.I852V		Atlas-SNP	.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	416	.	0			c.A2554G						.						134.0	132.0	132.0					5																	176637954		2203	4300	6503	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AGTGACATAGAAA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2554A>G	chr5.hg19:g.176637954A>G	ENSP00000395929:p.Ile852Val	88.0	0.0		66.0	32.0	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825242	0.50739	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95272	-3.59;-3.6;-3.59;-3.66	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000003	D	0.94225	0.8146	L	0.29908	0.895	0.26512	N	0.97459	D;D;D	0.62365	0.991;0.978;0.985	D;P;D	0.72625	0.978;0.81;0.952	D	0.88360	0.2987	9	.	.	.	.	10.1544	0.42814	0.9247:0.0:0.0753:0.0	.	583;749;852	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	583;852;583;749	ENSP00000346111:I583V;ENSP00000395929:I852V;ENSP00000343209:I583V;ENSP00000354310:I749V	.	I	+	1	0	NSD1	176570560	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.652000	0.54439	2.246000	0.74042	0.533000	0.62120	ATA	.	.		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
SLC34A1	6569	hgsc.bcm.edu	37	5	176814993	176814993	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:176814993A>T	ENST00000324417.5	+	7	735		c.e7-1		SLC34A1_ENST00000512593.1_Splice_Site	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1						arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCTGCCCAGGGCCTTCGC	0.667																																					.		Atlas-SNP	.											.	SLC34A1	73	.	0			c.645-2A>T						.						48.0	50.0	49.0					5																	176814993		2203	4300	6503	SO:0001630	splice_region_variant	6569	exon7			CTGCCCAGGGCCT	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.645-1A>T	chr5.hg19:g.176814993A>T		69.0	0.0		48.0	27.0	NM_001167579	B4DPE3	Splice_Site	SNP	ENST00000324417.5	hg19	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073784	0.76415	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2119	0.73230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC34A1	176747599	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.170000	0.94795	2.012000	0.59069	0.454000	0.30748	.	.	.		0.667	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052	Intron
ZFP2	80108	hgsc.bcm.edu	37	5	178359135	178359135	+	Missense_Mutation	SNP	A	A	G	rs147320919	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:178359135A>G	ENST00000361362.2	+	5	1351	c.821A>G	c.(820-822)cAa>cGa	p.Q274R	ZFP2_ENST00000520301.1_Missense_Mutation_p.Q274R|ZFP2_ENST00000523286.1_Missense_Mutation_p.Q274R|ZFP2_ENST00000503510.2_Missense_Mutation_p.Q274R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	274					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)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAGTGTAGTCAATGTGGAAAA	0.393																																					p.Q274R		Atlas-SNP	.											.	ZFP2	70	.	0			c.A821G						.						73.0	74.0	74.0					5																	178359135		2203	4300	6503	SO:0001583	missense	80108	exon5			GTAGTCAATGTGG	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.821A>G	chr5.hg19:g.178359135A>G	ENSP00000354453:p.Gln274Arg	90.0	0.0		55.0	33.0	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	hg19	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	10.88	1.475597	0.26511	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.79	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.558121	0.13491	N	0.384010	T	0.08980	0.0222	L	0.39326	1.205	0.21220	N	0.999753	B	0.16802	0.019	B	0.23852	0.049	T	0.25676	-1.0125	10	0.72032	D	0.01	-2.9787	8.8763	0.35348	0.8327:0.0:0.0:0.1673	.	274	Q6ZN57	ZFP2_HUMAN	R	274	ENSP00000354453:Q274R;ENSP00000430980:Q274R;ENSP00000430531:Q274R;ENSP00000438114:Q274R	ENSP00000354453:Q274R	Q	+	2	0	ZFP2	178291741	0.001000	0.12720	0.998000	0.56505	0.810000	0.45777	1.109000	0.31135	0.818000	0.34468	0.533000	0.62120	CAA	.	A|1.000;C|0.000		0.393	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
FLT4	2324	hgsc.bcm.edu	37	5	180037027	180037027	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:180037027T>A	ENST00000261937.6	-	28	3765		c.e28-2		FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000393347.3_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4						blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAATACCTGTGGGGAGAA	0.587																																					.	Colon(97;1075 1466 27033 27547 35871)	Atlas-SNP	.											FLT4_ENST00000261937,NS,carcinoma,0,2	FLT4	356	.	0			c.3687-2A>T						.						78.0	85.0	82.0					5																	180037027		2203	4300	6503	SO:0001630	splice_region_variant	2324	exon29			AATACCTGTGGGG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3687-2A>T	chr5.hg19:g.180037027T>A		62.0	1.0		47.0	17.0	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169175	0.78339	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6296	0.68647	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT4	179969633	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.372000	0.79612	1.938000	0.56188	0.459000	0.35465	.	.	.		0.587	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Intron
ZFP62	643836	hgsc.bcm.edu	37	5	180278100	180278100	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:180278100T>A	ENST00000502412.1	-	2	452	c.395A>T	c.(394-396)cAg>cTg	p.Q132L	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Missense_Mutation_p.Q99L|ZFP62_ENST00000359141.6_Missense_Mutation_p.Q72L	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGGTTTTCTGCTGTAGACT	0.413																																					p.Q132L		Atlas-SNP	.											.	ZFP62	33	.	0			c.A395T						.						154.0	122.0	132.0					5																	180278100		692	1591	2283	SO:0001583	missense	643836	exon2			GTTTTCTGCTGTA	AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.395A>T	chr5.hg19:g.180278100T>A	ENSP00000423820:p.Gln132Leu	71.0	0.0		40.0	11.0	NM_001172638	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	ENST00000502412.1	hg19	CCDS54955.1	.	.	.	.	.	.	.	.	.	.	.	3.319	-0.139069	0.06669	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000504225;ENST00000506439	T;T;T;T;T	0.57273	3.09;3.12;3.07;2.91;0.41	3.86	2.66	0.31614	.	.	.	.	.	T	0.39655	0.1086	L	0.33668	1.02	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	9	0.48119	T	0.1	.	8.0176	0.30389	0.1825:0.0:0.0:0.8175	.	132	Q8NB50	ZFP62_HUMAN	L	99;72;132;99;99	ENSP00000426193:Q99L;ENSP00000352053:Q72L;ENSP00000423820:Q132L;ENSP00000422987:Q99L;ENSP00000423709:Q99L	ENSP00000352053:Q72L	Q	-	2	0	ZFP62	180210706	0.893000	0.30496	0.014000	0.15608	0.017000	0.09413	2.038000	0.41184	0.805000	0.34159	0.519000	0.50382	CAG	.	.		0.413	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283	
TRIM41	90933	hgsc.bcm.edu	37	5	180661725	180661725	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr5:180661725C>A	ENST00000315073.5	+	6	2553	c.1843C>A	c.(1843-1845)Cct>Act	p.P615T	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	615	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGTCTTTCCTTTCTTCCG	0.622																																					p.P615T		Atlas-SNP	.											.	TRIM41	96	.	0			c.C1843A						.						84.0	93.0	90.0					5																	180661725		2203	4300	6503	SO:0001583	missense	90933	exon6			GTCTTTCCTTTCT	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1843C>A	chr5.hg19:g.180661725C>A	ENSP00000320869:p.Pro615Thr	75.0	0.0		50.0	15.0	NM_033549	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	hg19	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840035	0.32513	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	D	0.85171	-1.95	5.06	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.213333	0.33382	N	0.004967	D	0.94262	0.8157	H	0.98178	4.165	0.40053	D	0.975809	D	0.89917	1.0	D	0.97110	1.0	D	0.93890	0.7179	10	0.87932	D	0	.	6.9869	0.24733	0.0:0.7328:0.175:0.0922	.	615	Q8WV44	TRI41_HUMAN	T	615;300	ENSP00000320869:P615T	ENSP00000320869:P615T	P	+	1	0	TRIM41	180594331	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	1.752000	0.38349	1.362000	0.46000	0.455000	0.32223	CCT	.	.		0.622	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
PHACTR1	221692	hgsc.bcm.edu	37	6	12749960	12749960	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:12749960T>A	ENST00000379350.1	+	3	317	c.188T>A	c.(187-189)gTg>gAg	p.V63E	PHACTR1_ENST00000379348.2_Missense_Mutation_p.V63E|PHACTR1_ENST00000332995.7_Missense_Mutation_p.V63E			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	63					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ATCCGGAGAGTGCGCTCCAAG	0.677																																					p.V63E		Atlas-SNP	.											.	PHACTR1	94	.	0			c.T188A						.						26.0	33.0	31.0					6																	12749960		1900	4090	5990	SO:0001583	missense	221692	exon4			GGAGAGTGCGCTC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.188T>A	chr6.hg19:g.12749960T>A	ENSP00000368655:p.Val63Glu	40.0	0.0		38.0	17.0	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.053242|4.053242	0.75960|0.75960	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000406205|ENST00000379350;ENST00000379348;ENST00000332995;ENST00000432934	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.233054	.|0.26704	.|U	.|0.022929	T|T	0.39600|0.39600	0.1084|0.1084	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.997;0.895;0.997	.|D;D;B;P	.|0.64877	.|0.911;0.93;0.433;0.855	T|T	0.43114|0.43114	-0.9411|-0.9411	5|10	.|0.48119	.|T	.|0.1	.|.	13.1517|13.1517	0.59492|0.59492	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|63;63;63;63	.|E7ESR5;Q5R356;Q9C0D0;Q9C0D0-2	.|.;.;PHAR1_HUMAN;.	R|E	98|63	.|ENSP00000368655:V63E;ENSP00000368653:V63E;ENSP00000329880:V63E	.|ENSP00000329880:V63E	S|V	+|+	3|2	2|0	PHACTR1|PHACTR1	12857946|12857946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.559000|3.559000	0.53756|0.53756	1.700000|1.700000	0.51204|0.51204	0.254000|0.254000	0.18369|0.18369	AGT|GTG	.	.		0.677	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
PHACTR1	221692	hgsc.bcm.edu	37	6	13160509	13160509	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:13160509T>C	ENST00000379350.1	+	5	618	c.489T>C	c.(487-489)taT>taC	p.Y163Y	PHACTR1_ENST00000457702.2_Silent_p.Y18Y|PHACTR1_ENST00000379345.2_Silent_p.Y18Y|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000332995.7_Silent_p.Y163Y			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	163					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGAAATCTATGATAAAGGTA	0.443																																					p.Y163Y		Atlas-SNP	.											.	PHACTR1	94	.	0			c.T489C						.						126.0	126.0	126.0					6																	13160509		1955	4153	6108	SO:0001819	synonymous_variant	221692	exon6			AATCTATGATAAA	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.489T>C	chr6.hg19:g.13160509T>C		67.0	0.0		88.0	24.0	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	hg19		.	.	.	.	.	.	.	.	.	.	T	8.535	0.871868	0.17322	.	.	ENSG00000112137	ENST00000406205	.	.	.	5.1	-0.494	0.12034	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.7586	9.802	0.40770	0.0:0.1314:0.0:0.8686	.	.	.	.	R	199	.	.	X	+	1	0	PHACTR1	13268495	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	1.250000	0.32850	-0.254000	0.09500	-0.408000	0.06270	TGA	.	.		0.443	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
MCUR1	63933	hgsc.bcm.edu	37	6	13791091	13791091	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:13791091T>C	ENST00000379170.4	-	9	1168	c.1030A>G	c.(1030-1032)Ata>Gta	p.I344V		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	344					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											CACGTAAATATAGACCCTGTA	0.323																																					p.I344V		Atlas-SNP	.											.	CCDC90A	15	.	0			c.A1030G						.						82.0	85.0	84.0					6																	13791091		2203	4300	6503	SO:0001583	missense	63933	exon9			TAAATATAGACCC	BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.1030A>G	chr6.hg19:g.13791091T>C	ENSP00000368468:p.Ile344Val	190.0	0.0		218.0	92.0	NM_001031713	Q96JS7|Q9H7F8	Missense_Mutation	SNP	ENST00000379170.4	hg19	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	T	1.092	-0.663599	0.03428	.	.	ENSG00000050393	ENST00000379170	T	0.39056	1.1	5.36	2.05	0.26809	.	0.352459	0.31709	N	0.007182	T	0.03095	0.0091	N	0.00468	-1.46	0.80722	D	1	B	0.21520	0.057	B	0.17098	0.017	T	0.46119	-0.9214	10	0.02654	T	1	-7.4092	11.178	0.48612	0.0:0.8021:0.0:0.1979	.	344	Q96AQ8	CC90A_HUMAN	V	344	ENSP00000368468:I344V	ENSP00000368468:I344V	I	-	1	0	CCDC90A	13899070	0.648000	0.27313	0.999000	0.59377	0.835000	0.47333	0.077000	0.14738	0.423000	0.26033	-0.256000	0.11100	ATA	.	.		0.323	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102	
RNF144B	255488	hgsc.bcm.edu	37	6	18465185	18465185	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:18465185A>G	ENST00000259939.3	+	8	1116	c.799A>G	c.(799-801)Atc>Gtc	p.I267V	RNF144B_ENST00000429054.2_Missense_Mutation_p.I178V	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	267					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGCTTGGGCATCATTGCCTT	0.433																																					p.I267V		Atlas-SNP	.											.	RNF144B	18	.	0			c.A799G						.						188.0	152.0	164.0					6																	18465185		2203	4300	6503	SO:0001583	missense	255488	exon8			TTGGGCATCATTG	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.799A>G	chr6.hg19:g.18465185A>G	ENSP00000259939:p.Ile267Val	118.0	0.0		135.0	64.0	NM_182757	B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Missense_Mutation	SNP	ENST00000259939.3	hg19	CCDS34345.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130249	0.37630	.	.	ENSG00000137393	ENST00000429054;ENST00000259939	T;T	0.41065	1.01;1.58	5.3	4.15	0.48705	Zinc finger, RING-type (1);	0.044542	0.85682	N	0.000000	T	0.19005	0.0456	L	0.52759	1.655	0.49051	D	0.999743	B	0.10296	0.003	B	0.12156	0.007	T	0.04915	-1.0918	9	.	.	.	.	10.5182	0.44903	0.9225:0.0:0.0775:0.0	.	267	Q7Z419	R144B_HUMAN	V	178;267	ENSP00000411270:I178V;ENSP00000259939:I267V	.	I	+	1	0	RNF144B	18573164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.148000	0.50647	0.970000	0.38263	0.528000	0.53228	ATC	.	.		0.433	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581	
TRIM38	10475	hgsc.bcm.edu	37	6	25983702	25983702	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:25983702A>T	ENST00000357085.3	+	8	1661	c.1185A>T	c.(1183-1185)gcA>gcT	p.A395A	TRIM38_ENST00000349458.3_Silent_p.A395A|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCTATGTAGCACTTACTTCTC	0.493																																					p.A395A		Atlas-SNP	.											.	TRIM38	50	.	0			c.A1185T						.						125.0	122.0	123.0					6																	25983702		2203	4300	6503	SO:0001819	synonymous_variant	10475	exon8			TGTAGCACTTACT	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1185A>T	chr6.hg19:g.25983702A>T		96.0	0.0		85.0	32.0	NM_006355	B2R862	Silent	SNP	ENST00000357085.3	hg19	CCDS4568.1																																																																																			.	.		0.493	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
HFE	3077	hgsc.bcm.edu	37	6	26091582	26091582	+	Silent	SNP	A	A	G	rs28934595		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:26091582A>G	ENST00000357618.5	+	3	503	c.381A>G	c.(379-381)caA>caG	p.Q127Q	HFE_ENST00000353147.5_Intron|HFE_ENST00000470149.1_Silent_p.Q127Q|HFE_ENST00000317896.7_Intron|HFE_ENST00000397022.3_Silent_p.Q104Q|HFE_ENST00000309234.6_Silent_p.Q127Q|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Silent_p.Q127Q|HFE_ENST00000349999.4_Silent_p.Q39Q|HFE_ENST00000336625.8_Intron|HFE_ENST00000488199.1_Silent_p.Q39Q	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	127	Alpha-2.		Q -> H (in HFE1; dbSNP:rs28934595). {ECO:0000269|PubMed:10401000}.		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGAAATGCAAGAAGACAACA	0.517									Hemochromatosis																												p.Q127Q		Atlas-SNP	.											.	HFE	37	.	0			c.A381G	GRCh37	CM990721	HFE	M	rs28934595	.						88.0	73.0	78.0					6																	26091582		2203	4300	6503	SO:0001819	synonymous_variant	3077	exon3	Familial Cancer Database		AATGCAAGAAGAC		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.381A>G	chr6.hg19:g.26091582A>G		150.0	0.0		176.0	81.0	NM_139006	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	hg19	CCDS4578.1																																																																																			.	.		0.517	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1		
PGBD1	84547	hgsc.bcm.edu	37	6	28268678	28268678	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:28268678A>G	ENST00000405948.2	+	7	1467	c.1047A>G	c.(1045-1047)cgA>cgG	p.R349R	PGBD1_ENST00000259883.3_Silent_p.R349R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	349						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACAAAGCTCGAGTGAGTGAAC	0.478																																					p.R349R		Atlas-SNP	.											.	PGBD1	106	.	0			c.A1047G						.						89.0	93.0	92.0					6																	28268678		2203	4300	6503	SO:0001819	synonymous_variant	84547	exon7			AGCTCGAGTGAGT	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1047A>G	chr6.hg19:g.28268678A>G		92.0	0.0		91.0	48.0	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	hg19	CCDS4648.1																																																																																			.	.		0.478	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
OR2J3	442186	hgsc.bcm.edu	37	6	29080029	29080029	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:29080029T>A	ENST00000377169.1	+	1	362	c.362T>A	c.(361-363)aTg>aAg	p.M121K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGTGGTGATGTCCTATGAC	0.507																																					p.M121K		Atlas-SNP	.											.	OR2J3	53	.	0			c.T362A						.						361.0	408.0	392.0					6																	29080029		1382	2648	4030	SO:0001583	missense	442186	exon1			TGGTGATGTCCTA		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.362T>A	chr6.hg19:g.29080029T>A	ENSP00000366374:p.Met121Lys	143.0	0.0		133.0	55.0	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	hg19	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877435	0.51801	.	.	ENSG00000204701	ENST00000377169	T	0.01159	5.25	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09642	0.0237	H	0.99867	4.865	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.07731	-1.0757	9	0.87932	D	0	.	10.804	0.46507	0.0:0.0:0.0:1.0	.	121	O76001	OR2J3_HUMAN	K	121	ENSP00000366374:M121K	ENSP00000366374:M121K	M	+	2	0	OR2J3	29188008	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.407000	0.59754	1.268000	0.44264	0.358000	0.22013	ATG	.	.		0.507	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
OR2J2	26707	hgsc.bcm.edu	37	6	29141976	29141976	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:29141976A>G	ENST00000377167.2	+	1	666	c.564A>G	c.(562-564)ttA>ttG	p.L188L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCTGCGTTTATCATGTGTTG	0.458																																					p.L188L		Atlas-SNP	.											.	OR2J2	51	.	0			c.A564G						.						167.0	146.0	153.0					6																	29141976		1948	4151	6099	SO:0001819	synonymous_variant	26707	exon1			GCGTTTATCATGT		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.564A>G	chr6.hg19:g.29141976A>G		90.0	0.0		81.0	37.0	NM_030905	A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	hg19	CCDS43434.1																																																																																			.	.		0.458	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2		
OR12D3	81797	hgsc.bcm.edu	37	6	29343000	29343000	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:29343000T>A	ENST00000396806.3	-	1	68	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GAAGAAAGGCTGCAGCTCCTG	0.383																																					p.Q22L		Atlas-SNP	.											.	OR12D3	55	.	0			c.A65T						.						42.0	47.0	45.0					6																	29343000		1507	2708	4215	SO:0001583	missense	81797	exon1			AAAGGCTGCAGCT		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.65A>T	chr6.hg19:g.29343000T>A	ENSP00000380023:p.Gln22Leu	250.0	0.0		208.0	77.0	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	hg19	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	t	12.95	2.090152	0.36855	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00597	6.31	4.34	4.34	0.51931	.	.	.	.	.	T	0.00815	0.0027	M	0.89658	3.05	0.09310	N	1	P	0.46020	0.871	P	0.44811	0.461	T	0.30208	-0.9986	9	0.87932	D	0	-2.4275	13.3191	0.60423	0.0:0.0:0.0:1.0	.	22	Q9UGF7	O12D3_HUMAN	L	22	ENSP00000380023:Q22L	ENSP00000366348:Q22L	Q	-	2	0	OR12D3	29450979	0.045000	0.20229	0.027000	0.17364	0.858000	0.48976	1.958000	0.40402	1.808000	0.52836	0.353000	0.21931	CAG	.	.		0.383	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
OR10C1	442194	hgsc.bcm.edu	37	6	29408614	29408614	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:29408614C>A	ENST00000444197.2	+	1	1532	c.822C>A	c.(820-822)tcC>tcA	p.S274S	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCTGGTGTCCCTCTTCTATG	0.547																																					p.S274S		Atlas-SNP	.											.	OR10C1	58	.	0			c.C822A						.						195.0	212.0	206.0					6																	29408614		1511	2709	4220	SO:0001819	synonymous_variant	442194	exon1			GGTGTCCCTCTTC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.822C>A	chr6.hg19:g.29408614C>A		90.0	0.0		81.0	35.0	NM_013941	Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	hg19	CCDS34364.1																																																																																			.	.		0.547	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
OR2H2	7932	hgsc.bcm.edu	37	6	29556136	29556136	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:29556136T>G	ENST00000383640.2	+	1	454	c.415T>G	c.(415-417)Tgc>Ggc	p.C139G	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	139					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CCCCCGCCTGTGCTGGCAGCT	0.612																																					p.C139G		Atlas-SNP	.											.	OR2H2	29	.	0			c.T415G						.						128.0	133.0	131.0					6																	29556136		1510	2709	4219	SO:0001583	missense	7932	exon1			CGCCTGTGCTGGC		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.415T>G	chr6.hg19:g.29556136T>G	ENSP00000373136:p.Cys139Gly	97.0	0.0		66.0	39.0	NM_007160	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	hg19	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.494225	0.44352	.	.	ENSG00000204657	ENST00000383640	T	0.00224	8.51	4.29	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000401	T	0.00440	0.0014	H	0.98682	4.3	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37103	-0.9720	10	0.87932	D	0	.	8.2745	0.31864	0.389:0.0:0.0:0.6109	.	139	O95918	OR2H2_HUMAN	G	139	ENSP00000373136:C139G	ENSP00000373136:C139G	C	+	1	0	OR2H2	29664115	0.966000	0.33281	0.973000	0.42090	0.989000	0.77384	2.038000	0.41184	0.660000	0.30964	0.477000	0.44152	TGC	.	.		0.612	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2		
VARS2	57176	hgsc.bcm.edu	37	6	30892148	30892148	+	Silent	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:30892148G>C	ENST00000321897.5	+	25	3116	c.2484G>C	c.(2482-2484)gtG>gtC	p.V828V	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.V858V|VARS2_ENST00000542001.1_Silent_p.V688V|VARS2_ENST00000416670.2_Silent_p.V828V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	828					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGAAGCCCGTGCTGTGGCACT	0.692																																					p.V858V		Atlas-SNP	.											.	VARS2	60	.	0			c.G2574C						.						29.0	37.0	34.0					6																	30892148		1503	2691	4194	SO:0001819	synonymous_variant	57176	exon26			GCCCGTGCTGTGG	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2484G>C	chr6.hg19:g.30892148G>C		87.0	0.0		80.0	36.0	NM_001167734	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	hg19	CCDS34387.1																																																																																			.	.		0.692	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
DPCR1	135656	hgsc.bcm.edu	37	6	30919181	30919181	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:30919181T>A	ENST00000462446.1	+	2	2968	c.2940T>A	c.(2938-2940)ccT>ccA	p.P980P	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	332						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CAGCAGAGCCTACAGAAAATG	0.498																																					p.P980P		Atlas-SNP	.											.	DPCR1	99	.	0			c.T2940A						.						266.0	251.0	256.0					6																	30919181		692	1591	2283	SO:0001819	synonymous_variant	135656	exon2			AGAGCCTACAGAA	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2940T>A	chr6.hg19:g.30919181T>A		62.0	0.0		70.0	36.0	NM_080870	C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	hg19	CCDS4692.2																																																																																			.	.		0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
MUC21	394263	hgsc.bcm.edu	37	6	30955029	30955029	+	Silent	SNP	A	A	T	rs41288693		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:30955029A>T	ENST00000376296.3	+	2	1318	c.1077A>T	c.(1075-1077)acA>acT	p.T359T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	359	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGCCAGCACAGCCACCAACT	0.642																																					p.T359T		Atlas-SNP	.											.	MUC21	98	.	0			c.A1077T						.						138.0	137.0	137.0					6																	30955029		2201	4298	6499	SO:0001819	synonymous_variant	394263	exon2			CAGCACAGCCACC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1077A>T	chr6.hg19:g.30955029A>T		29.0	0.0		35.0	13.0	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	hg19	CCDS34388.1																																																																																			.	.		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
SKIV2L	6499	hgsc.bcm.edu	37	6	31935153	31935153	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:31935153A>T	ENST00000375394.2	+	21	2695	c.2582A>T	c.(2581-2583)cAg>cTg	p.Q861L	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Splice_Site_p.Q668L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	861					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGATCCTACAGGTGAGGGTG	0.562																																					p.Q861L		Atlas-SNP	.											.	SKIV2L	97	.	0			c.A2582T						.						102.0	79.0	87.0					6																	31935153		1509	2709	4218	SO:0001630	splice_region_variant	6499	exon21			TCCTACAGGTGAG		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2583+1A>T	chr6.hg19:g.31935153A>T		83.0	0.0		108.0	46.0	NM_006929	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	hg19	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842793	0.51057	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.49432	0.9;0.78	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.54323	1.7	0.80722	D	1	P	0.43542	0.81	B	0.43478	0.421	T	0.37911	-0.9685	10	0.56958	D	0.05	-22.7114	13.886	0.63708	1.0:0.0:0.0:0.0	.	861	Q15477	SKIV2_HUMAN	L	861;703;668	ENSP00000364543:Q861L;ENSP00000442645:Q668L	ENSP00000364543:Q861L	Q	+	2	0	SKIV2L	32043132	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.755000	0.85180	2.123000	0.65237	0.482000	0.46254	CAG	.	.		0.562	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		Missense_Mutation
GPSM3	63940	hgsc.bcm.edu	37	6	32159648	32159648	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:32159648C>A	ENST00000375040.3	-	3	575	c.183G>T	c.(181-183)caG>caT	p.Q61H	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Missense_Mutation_p.Q58H|GPSM3_ENST00000375043.3_Missense_Mutation_p.Q61H	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	61					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						GGAGTTCAGTCTGCAGGGAGA	0.677																																					p.Q61H		Atlas-SNP	.											.	GPSM3	9	.	0			c.G183T						.						33.0	43.0	39.0					6																	32159648		1507	2707	4214	SO:0001583	missense	63940	exon7			TTCAGTCTGCAGG	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.183G>T	chr6.hg19:g.32159648C>A	ENSP00000364180:p.Gln61His	105.0	0.0		106.0	21.0	NM_022107	A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	hg19	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371129	0.42003	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.32	3.43	0.39272	.	0.000000	0.56097	U	0.000025	T	0.42653	0.1212	N	0.24115	0.695	0.40212	D	0.977633	D	0.61697	0.99	D	0.70487	0.969	T	0.38001	-0.9681	9	0.41790	T	0.15	-0.9503	8.2332	0.31610	0.0:0.8874:0.0:0.1126	.	61	Q9Y4H4	GPSM3_HUMAN	H	58;61;61	.	ENSP00000364180:Q61H	Q	-	3	2	GPSM3	32267626	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.969000	0.40510	2.247000	0.74100	0.460000	0.39030	CAG	.	.		0.677	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107	
ITPR3	3710	hgsc.bcm.edu	37	6	33655094	33655094	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:33655094T>A	ENST00000374316.5	+	46	7227	c.6167T>A	c.(6166-6168)cTg>cAg	p.L2056Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.L2056Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2056					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ATCTATATCCTGGCGCTGCAG	0.627																																					p.L2056Q		Atlas-SNP	.											.	ITPR3	409	.	0			c.T6167A						.						58.0	49.0	52.0					6																	33655094		2203	4300	6503	SO:0001583	missense	3710	exon45			ATATCCTGGCGCT	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6167T>A	chr6.hg19:g.33655094T>A	ENSP00000363435:p.Leu2056Gln	51.0	0.0		55.0	28.0	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703199	0.88924	.	.	ENSG00000096433	ENST00000374316	D	0.94576	-3.46	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	D	0.96778	0.8948	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.97609	1.0128	10	0.87932	D	0	-15.7744	14.4245	0.67204	0.0:0.0:0.0:1.0	.	2056;1726	Q14573;Q59ES2	ITPR3_HUMAN;.	Q	2056	ENSP00000363435:L2056Q	ENSP00000363435:L2056Q	L	+	2	0	ITPR3	33763072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.928000	0.87587	1.868000	0.54150	0.459000	0.35465	CTG	.	.		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
DNAH8	1769	hgsc.bcm.edu	37	6	38816528	38816528	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:38816528A>G	ENST00000359357.3	+	35	4753	c.4499A>G	c.(4498-4500)tAt>tGt	p.Y1500C	DNAH8_ENST00000441566.1_Missense_Mutation_p.Y1500C|DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1717C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1500					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTGGGTTTATCTTGAAGCC	0.358																																					p.Y1717C		Atlas-SNP	.											.	DNAH8	1239	.	0			c.A5150G						.						89.0	96.0	94.0					6																	38816528		2203	4300	6503	SO:0001583	missense	1769	exon37			GGGTTTATCTTGA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4499A>G	chr6.hg19:g.38816528A>G	ENSP00000352312:p.Tyr1500Cys	107.0	0.0		107.0	48.0	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	A	25.1	4.601385	0.87055	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.72942	-0.7;-0.7;-0.7	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.130908	0.53938	D	0.000056	D	0.89781	0.6814	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93890	0.7179	10	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	1500	Q96JB1	DYH8_HUMAN	C	1705;1705;1500;1500	ENSP00000333363:Y1705C;ENSP00000352312:Y1500C;ENSP00000402294:Y1500C	ENSP00000333363:Y1705C	Y	+	2	0	DNAH8	38924506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.122000	0.94380	2.220000	0.72140	0.533000	0.62120	TAT	.	.		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
GLP1R	2740	hgsc.bcm.edu	37	6	39040694	39040694	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:39040694T>A	ENST00000373256.4	+	6	609	c.566T>A	c.(565-567)cTg>cAg	p.L189Q		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	189					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TCCTTCATCCTGCGAGCATTG	0.577																																					p.L189Q		Atlas-SNP	.											.	GLP1R	64	.	0			c.T566A						.						220.0	176.0	191.0					6																	39040694		2203	4300	6503	SO:0001583	missense	2740	exon6			TCATCCTGCGAGC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.566T>A	chr6.hg19:g.39040694T>A	ENSP00000362353:p.Leu189Gln	62.0	0.0		71.0	43.0	NM_002062	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	hg19	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845251	0.91197	.	.	ENSG00000112164	ENST00000373256	T	0.51574	0.7	5.71	5.71	0.89125	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000034	T	0.71796	0.3382	M	0.92507	3.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80246	-0.1462	10	0.87932	D	0	.	15.988	0.80176	0.0:0.0:0.0:1.0	.	189	P43220	GLP1R_HUMAN	Q	189	ENSP00000362353:L189Q	ENSP00000362353:L189Q	L	+	2	0	GLP1R	39148672	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.015000	0.88690	2.188000	0.69820	0.533000	0.62120	CTG	.	.		0.577	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
UBR2	23304	hgsc.bcm.edu	37	6	42562032	42562032	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:42562032A>G	ENST00000372899.1	+	4	779	c.521A>G	c.(520-522)gAg>gGg	p.E174G	UBR2_ENST00000372901.1_Missense_Mutation_p.E174G|UBR2_ENST00000372903.2_Missense_Mutation_p.E174G	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	174					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTGAAATTGAGGAAGAAGAG	0.363																																					p.E174G		Atlas-SNP	.											.	UBR2	134	.	0			c.A521G						.						110.0	107.0	108.0					6																	42562032		2203	4300	6503	SO:0001583	missense	23304	exon4			AAATTGAGGAAGA	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.521A>G	chr6.hg19:g.42562032A>G	ENSP00000361990:p.Glu174Gly	92.0	0.0		96.0	31.0	NM_001184801	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934629	0.34189	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73897	-0.79;0.21;0.21	5.21	2.69	0.31865	.	0.238301	0.40818	N	0.001007	T	0.34193	0.0889	N	0.08118	0	0.80722	D	1	B;B	0.18610	0.001;0.029	B;B	0.28916	0.01;0.096	T	0.09314	-1.0680	10	0.29301	T	0.29	-21.0842	7.6047	0.28095	0.5915:0.2801:0.0:0.1283	.	174;174	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	G	174	ENSP00000361994:E174G;ENSP00000361990:E174G;ENSP00000361992:E174G	ENSP00000361990:E174G	E	+	2	0	UBR2	42670010	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.944000	0.49034	0.255000	0.21593	0.459000	0.35465	GAG	.	.		0.363	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
CUL9	23113	hgsc.bcm.edu	37	6	43155009	43155009	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:43155009T>A	ENST00000252050.4	+	6	1497	c.1413T>A	c.(1411-1413)ccT>ccA	p.P471P	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Silent_p.P471P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	471					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACTGGAATCCTATGGATGGGC	0.567																																					p.P471P		Atlas-SNP	.											.	CUL9	248	.	0			c.T1413A						.						154.0	142.0	146.0					6																	43155009		2203	4300	6503	SO:0001819	synonymous_variant	23113	exon6			GAATCCTATGGAT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1413T>A	chr6.hg19:g.43155009T>A		72.0	0.0		86.0	35.0	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	hg19	CCDS4890.1																																																																																			.	.		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
MEP1A	4224	hgsc.bcm.edu	37	6	46801092	46801092	+	Nonsense_Mutation	SNP	A	A	T	rs12197930	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:46801092A>T	ENST00000230588.4	+	11	1435	c.1426A>T	c.(1426-1428)Aga>Tga	p.R476*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	476	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.		R -> G (in dbSNP:rs12197930). {ECO:0000269|PubMed:15489334}.		digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCCAAATAGCAGAGAAAGCTC	0.468																																					p.R476X		Atlas-SNP	.											.	MEP1A	93	.	0			c.A1426T						.						92.0	96.0	95.0					6																	46801092		2203	4300	6503	SO:0001587	stop_gained	4224	exon11			AATAGCAGAGAAA		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1426A>T	chr6.hg19:g.46801092A>T	ENSP00000230588:p.Arg476*	55.0	0.0		37.0	15.0	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511134	0.44660	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.61	0.122	0.14702	.	0.443943	0.29631	N	0.011614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	0.391	5.145	0.14979	0.3225:0.4882:0.0707:0.1186	.	.	.	.	X	476	.	ENSP00000230588:R476X	R	+	1	2	MEP1A	46909051	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	1.053000	0.30442	-0.189000	0.10482	-0.297000	0.09499	AGA	.	A|0.957;G|0.043		0.468	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
DEFB113	245927	hgsc.bcm.edu	37	6	49937307	49937307	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:49937307A>G	ENST00000398718.1	-	1	31	c.32T>C	c.(31-33)gTc>gCc	p.V11A		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	11					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CACAGTGAAGACAAAGGTCAG	0.328																																					p.V11A		Atlas-SNP	.											.	DEFB113	18	.	0			c.T32C						.						106.0	103.0	104.0					6																	49937307		1842	4084	5926	SO:0001583	missense	245927	exon1			GTGAAGACAAAGG	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.32T>C	chr6.hg19:g.49937307A>G	ENSP00000381703:p.Val11Ala	84.0	0.0		72.0	31.0	NM_001037729		Missense_Mutation	SNP	ENST00000398718.1	hg19	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778343	0.31502	.	.	ENSG00000214642	ENST00000398718	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	T	0.09335	0.0230	.	.	.	0.09310	N	1	P	0.37781	0.608	B	0.29862	0.108	T	0.06127	-1.0844	6	.	.	.	0.1889	9.5877	0.39526	1.0:0.0:0.0:0.0	.	11	Q30KQ7	DB113_HUMAN	A	11	.	.	V	-	2	0	DEFB113	50045266	0.982000	0.34865	0.083000	0.20561	0.716000	0.41182	3.461000	0.53035	1.834000	0.53371	0.482000	0.46254	GTC	.	.		0.328	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		
TFAP2D	83741	hgsc.bcm.edu	37	6	50712859	50712859	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:50712859G>T	ENST00000008391.3	+	6	1151	c.923G>T	c.(922-924)tGt>tTt	p.C308F	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCTACACTTGTGAAACAGAG	0.453																																					p.C308F		Atlas-SNP	.											.	TFAP2D	144	.	0			c.G923T						.						109.0	105.0	107.0					6																	50712859		2203	4300	6503	SO:0001583	missense	83741	exon6			ACACTTGTGAAAC	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.923G>T	chr6.hg19:g.50712859G>T	ENSP00000008391:p.Cys308Phe	179.0	0.0		203.0	91.0	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	hg19	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659370	0.88154	.	.	ENSG00000008197	ENST00000008391	D	0.97279	-4.32	5.77	5.77	0.91146	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99478	1.0947	10	0.87932	D	0	-21.7582	19.9791	0.97320	0.0:0.0:1.0:0.0	.	308	Q7Z6R9	AP2D_HUMAN	F	308	ENSP00000008391:C308F	ENSP00000008391:C308F	C	+	2	0	TFAP2D	50820818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.733000	0.93635	0.585000	0.79938	TGT	.	.		0.453	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
PKHD1	5314	hgsc.bcm.edu	37	6	51890688	51890688	+	Missense_Mutation	SNP	T	T	C	rs572226863		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:51890688T>C	ENST00000371117.3	-	32	4195	c.3920A>G	c.(3919-3921)cAa>cGa	p.Q1307R	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q1307R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1307	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTTCTCCTTGCATGGCAGT	0.522																																					p.Q1307R		Atlas-SNP	.											.	PKHD1	927	.	0			c.A3920G						.						114.0	101.0	105.0					6																	51890688		2203	4300	6503	SO:0001583	missense	5314	exon32			TCTCCTTGCATGG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3920A>G	chr6.hg19:g.51890688T>C	ENSP00000360158:p.Gln1307Arg	97.0	0.0		96.0	44.0	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	7.606	0.673860	0.14841	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.87	-2.62	0.06152	.	1.410580	0.04116	N	0.315491	T	0.48677	0.1513	N	0.02391	-0.57	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.44390	-0.9331	10	0.30078	T	0.28	.	9.0846	0.36572	0.0:0.1719:0.1267:0.7015	.	1307;1307	P08F94-2;P08F94	.;PKHD1_HUMAN	R	1307	ENSP00000360158:Q1307R;ENSP00000341097:Q1307R	ENSP00000341097:Q1307R	Q	-	2	0	PKHD1	51998647	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.290000	0.08354	-0.376000	0.07943	-0.912000	0.02778	CAA	.	.		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
MCM3	4172	hgsc.bcm.edu	37	6	52129386	52129386	+	Nonstop_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:52129386T>A	ENST00000229854.7	-	17	2503	c.2427A>T	c.(2425-2427)tgA>tgT	p.*809C	MCM3_ENST00000596288.1_Nonstop_Mutation_p.*854C|MCM3_ENST00000419835.2_Nonstop_Mutation_p.*763C			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	0					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGAGGCCTCCTCAGATGAGGA	0.527																																					p.X854C		Atlas-SNP	.											.	MCM3	63	.	0			c.A2562T						.						148.0	125.0	133.0					6																	52129386		2203	4300	6503	SO:0001578	stop_lost	4172	exon17			GCCTCCTCAGATG	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2427A>T	chr6.hg19:g.52129386T>A		66.0	0.0		56.0	28.0	NM_002388	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	hg19		.	.	.	.	.	.	.	.	.	.	T	20.9	4.061521	0.76187	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.98	0.41809	0.0:0.0749:0.0:0.9251	.	.	.	.	C	809;763	.	.	X	-	3	0	MCM3	52237345	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	5.809000	0.69172	2.263000	0.75096	0.533000	0.62120	TGA	.	.		0.527	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
HCRTR2	3062	hgsc.bcm.edu	37	6	55142234	55142234	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:55142234A>G	ENST00000370862.3	+	5	1155	c.819A>G	c.(817-819)tcA>tcG	p.S273S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	273					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCCTGTTTCACAGCCTCGAG	0.517																																					p.S273S		Atlas-SNP	.											.	HCRTR2	112	.	0			c.A819G						.						69.0	73.0	72.0					6																	55142234		2203	4300	6503	SO:0001819	synonymous_variant	3062	exon5			TGTTTCACAGCCT	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.819A>G	chr6.hg19:g.55142234A>G		161.0	0.0		130.0	63.0	NM_001526	Q5VTM0	Silent	SNP	ENST00000370862.3	hg19	CCDS4956.1																																																																																			.	.		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
ZNF451	26036	hgsc.bcm.edu	37	6	56993604	56993604	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:56993604A>T	ENST00000370706.4	+	5	634	c.390A>T	c.(388-390)gcA>gcT	p.A130A	ZNF451_ENST00000357489.3_Silent_p.A130A|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Silent_p.A130A|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGAAGCAGCAAGACTGTGTG	0.388																																					p.A130A		Atlas-SNP	.											.	ZNF451	181	.	0			c.A390T						.						94.0	89.0	91.0					6																	56993604		2203	4300	6503	SO:0001819	synonymous_variant	26036	exon5			AGCAGCAAGACTG	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.390A>T	chr6.hg19:g.56993604A>T		82.0	0.0		107.0	32.0	NM_001031623	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	hg19	CCDS43477.1																																																																																			.	.		0.388	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
BAI3	577	hgsc.bcm.edu	37	6	69348551	69348551	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:69348551A>T	ENST00000370598.1	+	3	806		c.e3-1			NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCATTTTTACAGGCCAAATGA	0.373																																					.		Atlas-SNP	.											.	BAI3	451	.	0			.						.						129.0	111.0	117.0					6																	69348551		2203	4300	6503	SO:0001630	splice_region_variant	577	.			TTTTACAGGCCAA	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.-15-1A>T	chr6.hg19:g.69348551A>T		80.0	0.0		60.0	26.0	.	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	hg19	CCDS4968.1																																																																																			.	.		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron
BAI3	577	hgsc.bcm.edu	37	6	69949085	69949085	+	Silent	SNP	C	C	T	rs560469400		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:69949085C>T	ENST00000370598.1	+	20	3602	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	BAI3_ENST00000238918.8_Silent_p.L133L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	927					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCAATATCCTCATACTGGTTG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		14515	0.0		0.0	False		,,,				2504	0.001				p.L927L		Atlas-SNP	.											.	BAI3	451	.	0			c.C2781T						.						169.0	161.0	163.0					6																	69949085		2203	4298	6501	SO:0001819	synonymous_variant	577	exon20			TATCCTCATACTG	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2781C>T	chr6.hg19:g.69949085C>T		98.0	0.0		89.0	35.0	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	hg19	CCDS4968.1																																																																																			.	.		0.343	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL9A1	1297	hgsc.bcm.edu	37	6	70935655	70935655	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:70935655G>T	ENST00000357250.6	-	37	2719	c.2561C>A	c.(2560-2562)cCt>cAt	p.P854H	COL9A1_ENST00000370499.4_Missense_Mutation_p.P611H|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.P611H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	854	Collagen-like 10.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TATAGCTCCAGGCAAACCGTT	0.428																																					p.P854H		Atlas-SNP	.											.	COL9A1	228	.	0			c.C2561A						.						79.0	74.0	75.0					6																	70935655		2203	4300	6503	SO:0001583	missense	1297	exon37			GCTCCAGGCAAAC		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2561C>A	chr6.hg19:g.70935655G>T	ENSP00000349790:p.Pro854His	83.0	0.0		66.0	36.0	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113195	0.56398	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.98701	-5.08;-5.08;-5.08	5.43	5.43	0.79202	.	0.051294	0.85682	D	0.000000	D	0.99477	0.9814	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98481	1.0605	10	0.66056	D	0.02	.	19.2294	0.93831	0.0:0.0:1.0:0.0	.	854;611;403	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	H	854;611;611	ENSP00000349790:P854H;ENSP00000315252:P611H;ENSP00000359530:P611H	ENSP00000315252:P611H	P	-	2	0	COL9A1	70992376	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.149000	0.71795	2.557000	0.86248	0.591000	0.81541	CCT	.	.		0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
MYO6	4646	hgsc.bcm.edu	37	6	76576647	76576647	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:76576647A>T	ENST00000369977.3	+	18	1909		c.e18-1		snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369985.4_Splice_Site|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369975.1_Splice_Site|MYO6_ENST00000369981.3_Splice_Site	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTATTTTTCAGACCCAGTTT	0.338																																					.		Atlas-SNP	.											.	MYO6	124	.	0			c.1771-2A>T						.						62.0	64.0	63.0					6																	76576647		2202	4300	6502	SO:0001630	splice_region_variant	4646	exon18			TTTTTCAGACCCA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1771-1A>T	chr6.hg19:g.76576647A>T		63.0	0.0		64.0	35.0	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	ENST00000369977.3	hg19	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917409	0.73098	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.101	0.81172	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76633367	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.883000	0.92426	2.263000	0.75096	0.528000	0.53228	.	.	.		0.338	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	Intron
PHIP	55023	hgsc.bcm.edu	37	6	79770201	79770201	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:79770201T>A	ENST00000275034.4	-	6	600	c.433A>T	c.(433-435)Agc>Tgc	p.S145C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	145					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACCAATGCTGGGTGGGCTA	0.423																																					p.S145C		Atlas-SNP	.											.	PHIP	177	.	0			c.A433T						.						80.0	75.0	77.0					6																	79770201		2203	4300	6503	SO:0001583	missense	55023	exon6			CAATGCTGGGTGG	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.433A>T	chr6.hg19:g.79770201T>A	ENSP00000275034:p.Ser145Cys	62.0	0.0		52.0	22.0	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192404	0.78902	.	.	ENSG00000146247	ENST00000275034	T	0.17854	2.25	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);	0.054903	0.85682	D	0.000000	T	0.13586	0.0329	L	0.34521	1.04	0.52501	D	0.999953	D;D	0.64830	0.994;0.994	P;P	0.54460	0.753;0.753	T	0.03139	-1.1068	9	.	.	.	-11.1752	13.9285	0.63978	0.0:0.0:0.0:1.0	.	145;145	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	145	ENSP00000275034:S145C	.	S	-	1	0	PHIP	79826920	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.698000	0.84413	2.162000	0.67917	0.482000	0.46254	AGC	.	.		0.423	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
LCA5	167691	hgsc.bcm.edu	37	6	80223068	80223068	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:80223068C>A	ENST00000392959.1	-	4	1192	c.581G>T	c.(580-582)aGt>aTt	p.S194I	LCA5_ENST00000467898.3_Missense_Mutation_p.S194I|LCA5_ENST00000369846.4_Missense_Mutation_p.S194I	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	194					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAATAGTTCACTTTCTGTATC	0.358																																					p.S194I		Atlas-SNP	.											.	LCA5	71	.	0			c.G581T						.						168.0	163.0	165.0					6																	80223068		2203	4300	6503	SO:0001583	missense	167691	exon3			AGTTCACTTTCTG		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.581G>T	chr6.hg19:g.80223068C>A	ENSP00000376686:p.Ser194Ile	187.0	0.0		148.0	64.0	NM_001122769	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	hg19	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840744	0.32513	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.77620	-1.11;-1.11	6.07	5.21	0.72293	.	0.573034	0.18957	N	0.126520	T	0.46073	0.1374	N	0.24115	0.695	0.23089	N	0.998316	B;B	0.31790	0.03;0.34	B;B	0.31686	0.012;0.134	T	0.36720	-0.9736	10	0.48119	T	0.1	-0.8082	7.7401	0.28837	0.0:0.7573:0.0:0.2427	.	194;194	B4DRL2;Q86VQ0	.;LCA5_HUMAN	I	194	ENSP00000358861:S194I;ENSP00000376686:S194I	ENSP00000358861:S194I	S	-	2	0	LCA5	80279787	0.820000	0.29190	0.999000	0.59377	0.762000	0.43233	1.381000	0.34362	1.571000	0.49722	0.655000	0.94253	AGT	.	.		0.358	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
C6orf165	154313	hgsc.bcm.edu	37	6	88128124	88128124	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:88128124A>T	ENST00000507897.1	+	7	913	c.830A>T	c.(829-831)cAg>cTg	p.Q277L	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Q277L			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	277										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GTCTTCCTTCAGATCATTTTG	0.388																																					p.Q277L		Atlas-SNP	.											.	C6orf165	116	.	0			c.A830T						.						92.0	98.0	96.0					6																	88128124		2203	4300	6503	SO:0001583	missense	154313	exon7			TCCTTCAGATCAT	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.830A>T	chr6.hg19:g.88128124A>T	ENSP00000426769:p.Gln277Leu	71.0	0.0		61.0	28.0	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	hg19	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509364	0.44660	.	.	ENSG00000213204	ENST00000369562	T	0.30981	1.51	5.16	5.16	0.70880	.	0.521716	0.22690	N	0.056835	T	0.12732	0.0309	L	0.47716	1.5	0.30853	N	0.734339	P;B	0.36282	0.546;0.376	B;B	0.33960	0.173;0.124	T	0.10917	-1.0609	10	0.54805	T	0.06	.	8.4386	0.32801	0.8761:0.0:0.1239:0.0	.	277;277	Q8IYR0;E1P509	CF165_HUMAN;.	L	277	ENSP00000358575:Q277L	ENSP00000358575:Q277L	Q	+	2	0	C6orf165	88184843	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.914000	0.56401	2.082000	0.62665	0.482000	0.46254	CAG	.	.		0.388	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
MDN1	23195	hgsc.bcm.edu	37	6	90371171	90371171	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:90371171T>C	ENST00000369393.3	-	88	14807	c.14692A>G	c.(14692-14694)Acc>Gcc	p.T4898A	MDN1_ENST00000428876.1_Missense_Mutation_p.T4898A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4898					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTGTCGGTGTCCTCACCA	0.458																																					p.T4898A		Atlas-SNP	.											.	MDN1	478	.	0			c.A14692G						.						222.0	213.0	216.0					6																	90371171		2203	4300	6503	SO:0001583	missense	23195	exon88			TGTCGGTGTCCTC	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14692A>G	chr6.hg19:g.90371171T>C	ENSP00000358400:p.Thr4898Ala	130.0	0.0		103.0	39.0	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695960	0.30052	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02863	4.13;4.13	4.62	3.45	0.39498	.	0.342183	0.22155	N	0.063872	T	0.00906	0.0030	L	0.47716	1.5	0.20196	N	0.999924	B	0.22003	0.063	B	0.22386	0.039	T	0.48433	-0.9036	10	0.15066	T	0.55	.	5.4136	0.16361	0.0:0.2043:0.0:0.7957	.	4898	Q9NU22	MDN1_HUMAN	A	4898	ENSP00000358400:T4898A;ENSP00000413970:T4898A	ENSP00000358400:T4898A	T	-	1	0	MDN1	90427892	1.000000	0.71417	0.992000	0.48379	0.020000	0.10135	3.591000	0.53986	1.854000	0.53819	0.528000	0.53228	ACC	.	.		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	hgsc.bcm.edu	37	6	90371808	90371808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:90371808C>A	ENST00000369393.3	-	87	14678	c.14563G>T	c.(14563-14565)Gag>Tag	p.E4855*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E4855*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4855					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATTACCTCATCTATTTGT	0.388																																					p.E4855X		Atlas-SNP	.											.	MDN1	478	.	0			c.G14563T						.						376.0	326.0	343.0					6																	90371808		2203	4299	6502	SO:0001587	stop_gained	23195	exon87			TTACCTCATCTAT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14563G>T	chr6.hg19:g.90371808C>A	ENSP00000358400:p.Glu4855*	60.0	0.0		64.0	29.0	NM_014611	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	55	25.077022	0.99963	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.62	5.62	0.85841	.	0.064498	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	.	.	.	X	4855	.	ENSP00000358400:E4855X	E	-	1	0	MDN1	90428529	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.097000	0.50251	2.810000	0.96702	0.585000	0.79938	GAG	.	.		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
BACH2	60468	hgsc.bcm.edu	37	6	90661011	90661011	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:90661011T>A	ENST00000257749.4	-	7	1521	c.814A>T	c.(814-816)Agg>Tgg	p.R272W	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.R272W|BACH2_ENST00000343122.3_Missense_Mutation_p.R272W	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	272						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCTGCCCCCTGGCAAGCCCC	0.527																																					p.R272W		Atlas-SNP	.											.	BACH2	224	.	0			c.A814T						.						77.0	78.0	78.0					6																	90661011		2203	4300	6503	SO:0001583	missense	60468	exon7			GCCCCCTGGCAAG	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.814A>T	chr6.hg19:g.90661011T>A	ENSP00000257749:p.Arg272Trp	55.0	0.0		44.0	24.0	NM_021813	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	hg19	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	T	6.805	0.517638	0.13005	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.37584	1.19;1.19;1.19	5.03	-4.69	0.03299	.	0.868689	0.10677	N	0.646818	T	0.04998	0.0134	N	0.08118	0	0.23063	N	0.998353	B	0.22080	0.064	B	0.09377	0.004	T	0.35943	-0.9768	10	0.66056	D	0.02	-22.7857	4.9045	0.13791	0.1025:0.4521:0.1043:0.3412	.	272	Q9BYV9	BACH2_HUMAN	W	272	ENSP00000257749:R272W;ENSP00000437473:R272W;ENSP00000345642:R272W	ENSP00000257749:R272W	R	-	1	2	BACH2	90717732	0.004000	0.15560	0.414000	0.26521	0.311000	0.27955	-1.165000	0.03132	-0.733000	0.04850	0.533000	0.62120	AGG	.	.		0.527	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
NDUFAF4	29078	hgsc.bcm.edu	37	6	97339048	97339048	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:97339048T>A	ENST00000316149.7	-	3	539	c.460A>T	c.(460-462)Aaa>Taa	p.K154*	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	154					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						ACAAAATATTTAAGAAGAGAA	0.348																																					p.K154X		Atlas-SNP	.											.	NDUFAF4	16	.	0			c.A460T						.						60.0	61.0	61.0					6																	97339048		2202	4298	6500	SO:0001587	stop_gained	29078	exon3			AATATTTAAGAAG	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.460A>T	chr6.hg19:g.97339048T>A	ENSP00000358272:p.Lys154*	59.0	0.0		48.0	15.0	NM_014165	B2R4J5	Nonsense_Mutation	SNP	ENST00000316149.7	hg19	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.704997	0.48412	.	.	ENSG00000123545	ENST00000316149	.	.	.	5.08	5.08	0.68730	.	0.213702	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-12.7503	7.3694	0.26792	0.0:0.1702:0.0:0.8298	.	.	.	.	X	154	.	ENSP00000358272:K154X	K	-	1	0	NDUFAF4	97445769	0.999000	0.42202	0.945000	0.38365	0.439000	0.31926	1.663000	0.37429	1.916000	0.55485	0.533000	0.62120	AAA	.	.		0.348	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165	
BVES	11149	hgsc.bcm.edu	37	6	105572512	105572512	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:105572512T>A	ENST00000314641.5	-	5	774	c.558A>T	c.(556-558)cgA>cgT	p.R186R	BVES_ENST00000336775.5_Silent_p.R186R|BVES_ENST00000446408.2_Silent_p.R186R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	186					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAAAATGTCCTCGATAGGAGA	0.333																																					p.R186R		Atlas-SNP	.											.	BVES	33	.	0			c.A558T						.						86.0	94.0	91.0					6																	105572512		2203	4299	6502	SO:0001819	synonymous_variant	11149	exon5			ATGTCCTCGATAG	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.558A>T	chr6.hg19:g.105572512T>A		45.0	0.0		30.0	10.0	NM_001199563	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	hg19	CCDS5051.1																																																																																			.	.		0.333	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
BEND3	57673	hgsc.bcm.edu	37	6	107390413	107390413	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:107390413T>C	ENST00000369042.1	-	4	2172	c.1982A>G	c.(1981-1983)cAc>cGc	p.H661R	BEND3_ENST00000429433.2_Missense_Mutation_p.H661R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	661										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCCGGCACGTGGACCTTGCG	0.667																																					p.H661R		Atlas-SNP	.											.	BEND3	70	.	0			c.A1982G						.						30.0	34.0	33.0					6																	107390413		2195	4293	6488	SO:0001583	missense	57673	exon5			GGCACGTGGACCT	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1982A>G	chr6.hg19:g.107390413T>C	ENSP00000358038:p.His661Arg	58.0	0.0		46.0	21.0	NM_001080450	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	hg19	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	T	9.769	1.172278	0.21704	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.34	3.08	0.35506	.	0.208989	0.43110	D	0.000618	T	0.22859	0.0552	N	0.14661	0.345	0.37396	D	0.912649	B	0.18461	0.028	B	0.12156	0.007	T	0.14727	-1.0462	9	0.49607	T	0.09	-2.4588	10.6919	0.45875	0.1429:0.0:0.0:0.8571	.	661	Q5T5X7	BEND3_HUMAN	R	661	.	ENSP00000358038:H661R	H	-	2	0	BEND3	107497106	0.986000	0.35501	0.995000	0.50966	0.975000	0.68041	1.808000	0.38912	1.952000	0.56665	0.374000	0.22700	CAC	.	.		0.667	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
CDC40	51362	hgsc.bcm.edu	37	6	110522886	110522886	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:110522886A>G	ENST00000368932.1	+	4	503	c.402A>G	c.(400-402)acA>acG	p.T134T	CDC40_ENST00000368930.1_Silent_p.T134T|CDC40_ENST00000307731.1_Silent_p.T134T			O60508	PRP17_HUMAN	cell division cycle 40	134					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CTTTTGCAACATATGGTAAGG	0.373																																					p.T134T		Atlas-SNP	.											.	CDC40	39	.	0			c.A402G						.						157.0	154.0	155.0					6																	110522886		2203	4300	6503	SO:0001819	synonymous_variant	51362	exon3			TGCAACATATGGT	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.402A>G	chr6.hg19:g.110522886A>G		75.0	0.0		52.0	26.0	NM_015891	B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	ENST00000368932.1	hg19	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279650	0.23307	.	.	ENSG00000168438	ENST00000431461	.	.	.	5.72	-1.15	0.09709	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	-8.9947	1.1692	0.01822	0.3801:0.2913:0.1464:0.1822	.	.	.	.	V	27	.	.	I	+	1	0	CDC40	110629579	0.153000	0.22777	0.997000	0.53966	0.959000	0.62525	-0.527000	0.06200	-0.142000	0.11354	0.528000	0.53228	ATA	.	.		0.373	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891	
KIAA1919	91749	hgsc.bcm.edu	37	6	111587672	111587672	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:111587672A>G	ENST00000368847.4	+	4	1260	c.907A>G	c.(907-909)Att>Gtt	p.I303V		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	303					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTGAGCAACATTGGCAGCCT	0.468																																					p.I303V		Atlas-SNP	.											.	KIAA1919	54	.	0			c.A907G						.						179.0	183.0	182.0					6																	111587672		2203	4300	6503	SO:0001583	missense	91749	exon4			AGCAACATTGGCA	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.907A>G	chr6.hg19:g.111587672A>G	ENSP00000357840:p.Ile303Val	113.0	0.0		91.0	44.0	NM_153369	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	hg19	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	7.618	0.676219	0.14841	.	.	ENSG00000173214	ENST00000368847	T	0.57595	0.39	6.05	-0.923	0.10465	Major facilitator superfamily domain, general substrate transporter (1);	0.344054	0.35040	N	0.003491	T	0.09158	0.0226	N	0.11756	0.17	0.31285	N	0.690084	B	0.06786	0.001	B	0.15870	0.014	T	0.32481	-0.9905	10	0.06757	T	0.87	-14.9073	8.3443	0.32263	0.5562:0.1025:0.3412:0.0	.	303	Q5TF39	NAGT1_HUMAN	V	303	ENSP00000357840:I303V	ENSP00000357840:I303V	I	+	1	0	KIAA1919	111694365	0.624000	0.27102	0.992000	0.48379	0.993000	0.82548	0.016000	0.13377	-0.048000	0.13401	-0.269000	0.10298	ATT	.	.		0.468	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369	
ZUFSP	221302	hgsc.bcm.edu	37	6	116973312	116973312	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:116973312T>A	ENST00000368576.3	-	6	1248	c.1005A>T	c.(1003-1005)acA>acT	p.T335T	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.Q279L	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	335							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GTCTCACATCTGTGGCAGCAT	0.393																																					p.T335T		Atlas-SNP	.											.	ZUFSP	46	.	0			c.A1005T						.						94.0	93.0	93.0					6																	116973312		2203	4300	6503	SO:0001819	synonymous_variant	221302	exon6			CACATCTGTGGCA	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1005A>T	chr6.hg19:g.116973312T>A		97.0	0.0		75.0	23.0	NM_145062	Q5TD92|Q6PJH7|Q96NV6	Silent	SNP	ENST00000368576.3	hg19	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762065	0.69763	.	.	ENSG00000153975	ENST00000368573	.	.	.	5.69	4.53	0.55603	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.23791	N	0.99684	.	.	.	.	.	.	T	0.28038	-1.0056	5	0.87932	D	0	-1.1238	6.9542	0.24562	0.1326:0.0703:0.0:0.7971	.	.	.	.	L	279	.	ENSP00000357562:Q279L	Q	-	2	0	ZUFSP	117080005	0.955000	0.32602	1.000000	0.80357	0.990000	0.78478	0.433000	0.21477	1.089000	0.41292	0.533000	0.62120	CAG	.	.		0.393	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062	
KPNA5	3841	hgsc.bcm.edu	37	6	117047735	117047735	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:117047735A>T	ENST00000368564.1	+	12	1351	c.1203A>T	c.(1201-1203)gcA>gcT	p.A401A	KPNA5_ENST00000356348.1_Silent_p.A401A			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	398	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAAAGAAGCAGCTTGGGCTA	0.338																																					p.A401A		Atlas-SNP	.											.	KPNA5	57	.	0			c.A1203T						.						89.0	92.0	91.0					6																	117047735		2203	4300	6503	SO:0001819	synonymous_variant	3841	exon12			AGAAGCAGCTTGG	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1203A>T	chr6.hg19:g.117047735A>T		216.0	0.0		134.0	63.0	NM_002269	B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	hg19	CCDS5111.1																																																																																			.	.		0.338	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
GPRC6A	222545	hgsc.bcm.edu	37	6	117114124	117114124	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:117114124T>A	ENST00000310357.3	-	6	1983	c.1962A>T	c.(1960-1962)ccA>ccT	p.P654P	GPRC6A_ENST00000368549.3_Silent_p.P583P|GPRC6A_ENST00000530250.1_Silent_p.P479P	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	654					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAAGTCTTGTGGTTCTCCAA	0.428																																					p.P654P		Atlas-SNP	.											.	GPRC6A	152	.	0			c.A1962T						.						108.0	98.0	101.0					6																	117114124		2203	4300	6503	SO:0001819	synonymous_variant	222545	exon6			GTCTTGTGGTTCT	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1962A>T	chr6.hg19:g.117114124T>A		120.0	0.0		87.0	45.0	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	hg19	CCDS5112.1																																																																																			.	.		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
ROS1	6098	hgsc.bcm.edu	37	6	117609770	117609770	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:117609770T>G	ENST00000368508.3	-	43	7127	c.6929A>C	c.(6928-6930)cAt>cCt	p.H2310P	ROS1_ENST00000368507.3_Missense_Mutation_p.H2304P	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2310					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTGTCTGCATGTGGTTCCTT	0.483			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.H2310P		Atlas-SNP	.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1	728	.	0			c.A6929C						.						114.0	113.0	113.0					6																	117609770		2203	4300	6503	SO:0001583	missense	6098	exon43			TCTGCATGTGGTT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6929A>C	chr6.hg19:g.117609770T>G	ENSP00000357494:p.His2310Pro	142.0	0.0		115.0	51.0	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	hg19	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.221107	0.39201	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.72051	-0.61;-0.62	4.41	3.24	0.37175	.	0.374089	0.20166	N	0.097850	T	0.33673	0.0871	N	0.24115	0.695	0.25235	N	0.989799	B	0.29909	0.261	B	0.28784	0.094	T	0.16928	-1.0386	10	0.62326	D	0.03	.	6.5849	0.22614	0.0:0.1102:0.0:0.8898	.	2310	P08922	ROS1_HUMAN	P	2310;2304	ENSP00000357494:H2310P;ENSP00000357493:H2304P	ENSP00000357493:H2304P	H	-	2	0	ROS1	117716463	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	0.923000	0.28757	0.729000	0.32403	0.460000	0.39030	CAT	.	.		0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
TBC1D32	221322	hgsc.bcm.edu	37	6	121447529	121447529	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:121447529T>C	ENST00000398212.2	-	26	3027	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y1034C	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	993					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGTACCTGTATACTCCACTGA	0.318																																					p.Y993C		Atlas-SNP	.											.	C6orf170	146	.	0			c.A2978G						.						100.0	95.0	97.0					6																	121447529		1826	4084	5910	SO:0001583	missense	221322	exon26			CCTGTATACTCCA	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2978A>G	chr6.hg19:g.121447529T>C	ENSP00000381270:p.Tyr993Cys	62.0	0.0		48.0	27.0	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	hg19	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768489	0.69878	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19394	2.15;2.15	5.15	5.15	0.70609	.	0.118478	0.64402	D	0.000015	T	0.30166	0.0756	M	0.67953	2.075	0.54753	D	0.999981	D;D	0.61080	0.985;0.989	P;P	0.58454	0.808;0.839	T	0.04454	-1.0950	10	0.52906	T	0.07	.	15.2681	0.73678	0.0:0.0:0.0:1.0	.	1034;993	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	C	1034;993	ENSP00000275159:Y1034C;ENSP00000381270:Y993C	ENSP00000275159:Y1034C	Y	-	2	0	C6orf170	121489228	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.642000	0.54367	2.065000	0.61736	0.477000	0.44152	TAT	.	.		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
SOGA3	387104	hgsc.bcm.edu	37	6	127837007	127837007	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:127837007T>A	ENST00000525778.1	-	2	1498	c.753A>T	c.(751-753)aaA>aaT	p.K251N	SOGA3_ENST00000465909.2_Missense_Mutation_p.K251N|SOGA3_ENST00000481848.2_Missense_Mutation_p.K251N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K251N|SOGA3_ENST00000556132.1_Missense_Mutation_p.K251N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	251					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GACATCCTTCTTTCCAGTAGC	0.652																																					p.K251N		Atlas-SNP	.											.	.	.	.	0			c.A753T						.						19.0	24.0	22.0					6																	127837007		1923	4102	6025	SO:0001583	missense	387104	exon2			TCCTTCTTTCCAG	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.753A>T	chr6.hg19:g.127837007T>A	ENSP00000434570:p.Lys251Asn	27.0	0.0		38.0	19.0	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	hg19	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433625	0.43224	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.68	0.884	0.19182	.	0.074138	0.50627	D	0.000119	T	0.09113	0.0225	N	0.19112	0.55	0.46521	D	0.999088	P	0.34522	0.455	B	0.32624	0.149	T	0.11155	-1.0599	10	0.37606	T	0.19	-16.7435	8.9648	0.35869	0.0:0.6358:0.0:0.3642	.	251	Q5TF21	CF174_HUMAN	N	251	ENSP00000451768:K251N;ENSP00000357251:K251N;ENSP00000434570:K251N;ENSP00000435559:K251N	ENSP00000435559:K251N	K	-	3	2	C6orf174	127878700	0.966000	0.33281	0.999000	0.59377	0.904000	0.53231	0.096000	0.15147	0.048000	0.15891	-0.994000	0.02522	AAA	.	.		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
THEMIS	387357	hgsc.bcm.edu	37	6	128150865	128150865	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:128150865T>G	ENST00000368248.2	-	3	613	c.465A>C	c.(463-465)gcA>gcC	p.A155A	THEMIS_ENST00000543064.1_Silent_p.A155A|THEMIS_ENST00000537166.1_Silent_p.A120A|THEMIS_ENST00000368250.1_Silent_p.A76A	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	155	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GATGATTCCTTGCTACTGCAC	0.378																																					p.A155A		Atlas-SNP	.											.	THEMIS	168	.	0			c.A465C						.						157.0	154.0	155.0					6																	128150865		2203	4300	6503	SO:0001819	synonymous_variant	387357	exon3			ATTCCTTGCTACT	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.465A>C	chr6.hg19:g.128150865T>G		109.0	0.0		74.0	33.0	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	hg19	CCDS34534.1																																																																																			.	.		0.378	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
LAMA2	3908	hgsc.bcm.edu	37	6	129498936	129498936	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:129498936G>T	ENST00000421865.2	+	10	1441	c.1392G>T	c.(1390-1392)ccG>ccT	p.P464P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	464	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGCTACCCGGACTGCAAAG	0.488																																					p.P464P		Atlas-SNP	.											.	LAMA2	481	.	0			c.G1392T						.						104.0	96.0	99.0					6																	129498936		2203	4300	6503	SO:0001819	synonymous_variant	3908	exon10			CTACCCGGACTGC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1392G>T	chr6.hg19:g.129498936G>T		149.0	0.0		110.0	47.0	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	hg19	CCDS5138.1																																																																																			.	.		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	hgsc.bcm.edu	37	6	129618940	129618940	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:129618940T>A	ENST00000421865.2	+	21	3016	c.2967T>A	c.(2965-2967)ccT>ccA	p.P989P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	989	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTGCCAACCTGGAGTCACAG	0.478																																					p.P989P		Atlas-SNP	.											.	LAMA2	481	.	0			c.T2967A						.						92.0	83.0	86.0					6																	129618940		2203	4300	6503	SO:0001819	synonymous_variant	3908	exon21			CCAACCTGGAGTC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2967T>A	chr6.hg19:g.129618940T>A		83.0	0.0		50.0	26.0	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	hg19	CCDS5138.1																																																																																			.	.		0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	hgsc.bcm.edu	37	6	129636779	129636779	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:129636779A>T	ENST00000421865.2	+	25	3763	c.3714A>T	c.(3712-3714)ccA>ccT	p.P1238P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAAACTTCCAGAACAATTTG	0.373																																					p.P1238P		Atlas-SNP	.											.	LAMA2	481	.	0			c.A3714T						.						101.0	99.0	100.0					6																	129636779		2203	4300	6503	SO:0001819	synonymous_variant	3908	exon25			ACTTCCAGAACAA	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3714A>T	chr6.hg19:g.129636779A>T		89.0	0.0		73.0	30.0	NM_000426	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	hg19	CCDS5138.1																																																																																			.	.		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	hgsc.bcm.edu	37	6	129823895	129823895	+	Missense_Mutation	SNP	A	A	T	rs202202014		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:129823895A>T	ENST00000421865.2	+	59	8385	c.8336A>T	c.(8335-8337)gAt>gTt	p.D2779V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2779	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCATTTGATGACACCAAA	0.398																																					p.D2779V		Atlas-SNP	.											.	LAMA2	481	.	0			c.A8336T						.						90.0	85.0	87.0					6																	129823895		2203	4300	6503	SO:0001583	missense	3908	exon59			CATTTGATGACAC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8336A>T	chr6.hg19:g.129823895A>T	ENSP00000400365:p.Asp2779Val	98.0	0.0		75.0	30.0	NM_000426	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621714	0.87460	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.68025	-0.3	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.76116	-0.3077	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	2780;2779	A6NF00;P24043	.;LAMA2_HUMAN	V	2779;2778;2779;797	ENSP00000400365:D2779V	.	D	+	2	0	LAMA2	129865588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.017000	0.88712	2.326000	0.78906	0.533000	0.62120	GAT	.	A|1.000;G|0.000		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
SAMD3	154075	hgsc.bcm.edu	37	6	130497042	130497042	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:130497042T>C	ENST00000368134.2	-	10	1374	c.766A>G	c.(766-768)Aca>Gca	p.T256A	SAMD3_ENST00000457563.2_Missense_Mutation_p.T280A|SAMD3_ENST00000437477.2_Missense_Mutation_p.T256A|SAMD3_ENST00000439090.2_Missense_Mutation_p.T256A|SAMD3_ENST00000533296.1_5'Flank|SAMD3_ENST00000532763.1_Missense_Mutation_p.T254A	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	256										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GATTTCCTTGTCTGGCCTCTT	0.348																																					p.T256A		Atlas-SNP	.											.	SAMD3	98	.	0			c.A766G						.						108.0	111.0	110.0					6																	130497042		2202	4300	6502	SO:0001583	missense	154075	exon8			TCCTTGTCTGGCC	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.766A>G	chr6.hg19:g.130497042T>C	ENSP00000357116:p.Thr256Ala	77.0	0.0		71.0	24.0	NM_001017373	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	hg19	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665903	0.47677	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.44881	0.95;0.95;0.95;0.95;0.91	5.58	5.58	0.84498	.	0.505114	0.19833	N	0.105059	T	0.24967	0.0606	M	0.63428	1.95	0.80722	D	1	B	0.28055	0.199	B	0.27380	0.079	T	0.07790	-1.0754	10	0.16420	T	0.52	.	14.3224	0.66496	0.0:0.0:0.0:1.0	.	256	Q8N6K7	SAMD3_HUMAN	A	256;280;256;256;254	ENSP00000357116:T256A;ENSP00000402092:T280A;ENSP00000403565:T256A;ENSP00000391163:T256A;ENSP00000436088:T254A	ENSP00000357116:T256A	T	-	1	0	SAMD3	130538735	1.000000	0.71417	0.998000	0.56505	0.645000	0.38454	3.579000	0.53900	2.115000	0.64714	0.533000	0.62120	ACA	.	.		0.348	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	
SGK1	6446	hgsc.bcm.edu	37	6	134638546	134638546	+	Missense_Mutation	SNP	T	T	C	rs557794340		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:134638546T>C	ENST00000367858.5	-	1	650	c.53A>G	c.(52-54)cAa>cGa	p.Q18R	SGK1_ENST00000524929.1_Missense_Mutation_p.Q18R	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTTAAAAAATTGGAAGGCTGA	0.418																																					p.Q18R		Atlas-SNP	.											.	SGK1	387	.	0			c.A53G						.						164.0	152.0	156.0					6																	134638546		1568	3582	5150	SO:0001583	missense	6446	exon1			AAAAATTGGAAGG	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.53A>G	chr6.hg19:g.134638546T>C	ENSP00000356832:p.Gln18Arg	138.0	0.0		93.0	37.0	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	hg19	CCDS47476.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020267	0.54576	.	.	ENSG00000118515	ENST00000367858;ENST00000524929;ENST00000533224	T	0.73047	-0.71	5.38	5.38	0.77491	.	0.199270	0.25014	N	0.033809	T	0.80747	0.4682	.	.	.	0.33958	D	0.645274	D;P	0.89917	1.0;0.908	D;P	0.85130	0.997;0.888	D	0.84666	0.0709	9	0.87932	D	0	.	15.3791	0.74637	0.0:0.0:0.0:1.0	.	18;18	Q7Z3I4;O00141-2	.;.	R	18	ENSP00000356832:Q18R	ENSP00000356832:Q18R	Q	-	2	0	SGK1	134680239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.042000	0.60477	0.482000	0.46254	CAA	.	.		0.418	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2		
BCLAF1	9774	hgsc.bcm.edu	37	6	136599666	136599666	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:136599666C>T	ENST00000531224.1	-	4	605	c.353G>A	c.(352-354)aGa>aAa	p.R118K	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R116K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R116K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R116K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R118K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R118K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	118					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R118I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAACGGATCTTCTTTTTGG	0.468																																					p.R118K	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											BCLAF1_ENST00000531224,NS,carcinoma,0,1	BCLAF1	203	.	1	Substitution - Missense(1)	kidney(1)	c.G353A						.						178.0	184.0	182.0					6																	136599666		2203	4300	6503	SO:0001583	missense	9774	exon4			ACGGATCTTCTTT	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.353G>A	chr6.hg19:g.136599666C>T	ENSP00000435210:p.Arg118Lys	129.0	0.0		139.0	33.0	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732204	0.69189	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.68146	0.2969	M	0.64997	1.995	0.80722	D	1	P;P;P;P	0.47910	0.902;0.902;0.902;0.902	P;P;P;P	0.60173	0.87;0.87;0.87;0.87	T	0.68792	-0.5315	10	0.62326	D	0.03	-11.5288	19.6986	0.96043	0.0:1.0:0.0:0.0	.	116;116;118;118	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	118;116;118;118;116;116;118	ENSP00000435210:R118K;ENSP00000229446:R116K;ENSP00000435441:R118K;ENSP00000436501:R118K;ENSP00000434826:R116K;ENSP00000376159:R116K;ENSP00000431734:R118K	ENSP00000229446:R116K	R	-	2	0	BCLAF1	136641359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.655000	0.67981	2.660000	0.90430	0.557000	0.71058	AGA	.	.		0.468	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
SLC35D3	340146	hgsc.bcm.edu	37	6	137245642	137245642	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:137245642T>A	ENST00000331858.4	+	2	1224	c.1059T>A	c.(1057-1059)ggT>ggA	p.G353G		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	353					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AGGCAGCAGGTGGCCCCGCTC	0.657																																					p.G353G		Atlas-SNP	.											.	SLC35D3	33	.	0			c.T1059A						.						41.0	43.0	42.0					6																	137245642		2203	4300	6503	SO:0001819	synonymous_variant	340146	exon2			AGCAGGTGGCCCC		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1059T>A	chr6.hg19:g.137245642T>A		51.0	0.0		39.0	14.0	NM_001008783	B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	hg19	CCDS34544.1																																																																																			.	.		0.657	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
ECT2L	345930	hgsc.bcm.edu	37	6	139164260	139164260	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:139164260A>G	ENST00000423192.1	+	5	648	c.487A>G	c.(487-489)Act>Gct	p.T163A	ECT2L_ENST00000541398.1_Missense_Mutation_p.T94A|ECT2L_ENST00000367682.2_Missense_Mutation_p.T163A			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	163							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGCTGCTGCTACTTATGGGAC	0.463			"""N, Splice, Mis"""		ETP ALL																																p.T163A		Atlas-SNP	.		Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	ECT2L	75	.	0			c.A487G						.						126.0	125.0	125.0					6																	139164260		1961	4163	6124	SO:0001583	missense	345930	exon5			GCTGCTACTTATG		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.487A>G	chr6.hg19:g.139164260A>G	ENSP00000387388:p.Thr163Ala	68.0	0.0		64.0	19.0	NM_001195037	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	hg19	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189336	0.38707	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.74632	0.26;0.26;-0.86	5.72	-8.41	0.00961	.	13.926100	0.01400	U	0.013544	T	0.26011	0.0634	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.002	T	0.13548	-1.0505	10	0.26408	T	0.33	4.2474	7.6495	0.28340	0.2801:0.3321:0.3879:0.0	.	94;163	F5H7S9;Q008S8	.;ECT2L_HUMAN	A	163;163;94	ENSP00000387388:T163A;ENSP00000356655:T163A;ENSP00000442307:T94A	ENSP00000356655:T163A	T	+	1	0	ECT2L	139205953	0.000000	0.05858	0.000000	0.03702	0.867000	0.49689	-1.138000	0.03216	-1.610000	0.01583	0.482000	0.46254	ACT	.	.		0.463	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
SHPRH	257218	hgsc.bcm.edu	37	6	146276324	146276324	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:146276324T>A	ENST00000367505.2	-	2	399	c.135A>T	c.(133-135)ccA>ccT	p.P45P	SHPRH_ENST00000438092.2_Silent_p.P45P|SHPRH_ENST00000367503.3_Silent_p.P45P|SHPRH_ENST00000275233.7_Silent_p.P45P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	45					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TATCTGAACCTGGGCAGGGCT	0.438																																					p.P45P		Atlas-SNP	.											.	SHPRH	169	.	0			c.A135T						.						97.0	91.0	93.0					6																	146276324		1915	4124	6039	SO:0001819	synonymous_variant	257218	exon2			TGAACCTGGGCAG	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.135A>T	chr6.hg19:g.146276324T>A		55.0	0.0		35.0	14.0	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	hg19	CCDS43513.2																																																																																			.	.		0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SASH1	23328	hgsc.bcm.edu	37	6	148848610	148848610	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:148848610T>C	ENST00000367467.3	+	12	1781	c.1306T>C	c.(1306-1308)Tac>Cac	p.Y436H		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	436					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGACTTTGTGTACAAAGAAGT	0.353																																					p.Y436H		Atlas-SNP	.											.	SASH1	123	.	0			c.T1306C						.						104.0	102.0	103.0					6																	148848610		2203	4300	6503	SO:0001583	missense	23328	exon12			TTTGTGTACAAAG	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1306T>C	chr6.hg19:g.148848610T>C	ENSP00000356437:p.Tyr436His	71.0	0.0		49.0	21.0	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	hg19	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475019	0.84640	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.41400	1.0	5.51	5.51	0.81932	.	0.121669	0.64402	D	0.000019	T	0.45538	0.1347	L	0.36672	1.1	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.42616	-0.9441	10	0.42905	T	0.14	-22.472	15.6579	0.77158	0.0:0.0:0.0:1.0	.	417;436	Q6P4R9;O94885	.;SASH1_HUMAN	H	436;197	ENSP00000356437:Y436H	ENSP00000356437:Y436H	Y	+	1	0	SASH1	148890303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.751000	0.68720	2.100000	0.63781	0.523000	0.50628	TAC	.	.		0.353	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
ZBTB2	57621	hgsc.bcm.edu	37	6	151687080	151687080	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:151687080T>G	ENST00000325144.4	-	3	1261	c.1121A>C	c.(1120-1122)cAg>cCg	p.Q374P		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGGCTTTTCTGGATAAATTT	0.527																																					p.Q374P		Atlas-SNP	.											.	ZBTB2	30	.	0			c.A1121C						.						110.0	108.0	109.0					6																	151687080		2203	4300	6503	SO:0001583	missense	57621	exon3			CTTTTCTGGATAA	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1121A>C	chr6.hg19:g.151687080T>G	ENSP00000323183:p.Gln374Pro	142.0	0.0		125.0	61.0	NM_020861	A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	hg19	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755167	0.69648	.	.	ENSG00000181472	ENST00000325144	T	0.61158	0.13	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.65026	-0.6268	10	0.72032	D	0.01	-33.5175	16.0843	0.81031	0.0:0.0:0.0:1.0	.	374	Q8N680	ZBTB2_HUMAN	P	374	ENSP00000323183:Q374P	ENSP00000323183:Q374P	Q	-	2	0	ZBTB2	151728773	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.923000	0.87546	2.191000	0.70037	0.533000	0.62120	CAG	.	.		0.527	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861	
SYNE1	23345	hgsc.bcm.edu	37	6	152555815	152555815	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:152555815T>C	ENST00000367255.5	-	111	21118	c.20517A>G	c.(20515-20517)ctA>ctG	p.L6839L	SYNE1_ENST00000423061.1_Silent_p.L6768L|SYNE1_ENST00000356820.4_Silent_p.L1363L|SYNE1_ENST00000265368.4_Silent_p.L6839L|SYNE1_ENST00000341594.5_Silent_p.L6451L|SYNE1_ENST00000448038.1_Silent_p.L6768L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6839					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAAAGCATTTAGATGATCAC	0.443										HNSCC(10;0.0054)																											p.L6839L		Atlas-SNP	.											.	SYNE1	3227	.	0			c.A20517G						.						143.0	136.0	138.0					6																	152555815		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon111			AGCATTTAGATGA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20517A>G	chr6.hg19:g.152555815T>C		97.0	0.0		69.0	31.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	hg19	CCDS5236.2																																																																																			.	.		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152831366	152831366	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:152831366C>T	ENST00000367255.5	-	8	1144	c.543G>A	c.(541-543)aaG>aaA	p.K181K	SYNE1_ENST00000466159.2_Silent_p.K181K|SYNE1_ENST00000423061.1_Silent_p.K188K|SYNE1_ENST00000413186.2_Silent_p.K181K|SYNE1_ENST00000265368.4_Silent_p.K181K|SYNE1_ENST00000341594.5_Silent_p.K181K|SYNE1_ENST00000367253.4_Silent_p.K181K|SYNE1_ENST00000448038.1_Silent_p.K188K|SYNE1_ENST00000367248.3_Silent_p.K188K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	181	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAAAGCCTTCTTAGCATTTC	0.428										HNSCC(10;0.0054)																											p.K188K		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G564A						.						221.0	205.0	210.0					6																	152831366		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon8			AGCCTTCTTAGCA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.543G>A	chr6.hg19:g.152831366C>T		129.0	0.0		101.0	9.0	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	hg19	CCDS5236.2																																																																																			.	.		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
MYCT1	80177	hgsc.bcm.edu	37	6	153043211	153043211	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:153043211T>A	ENST00000367245.5	+	2	539	c.531T>A	c.(529-531)ccT>ccA	p.P177P	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	177						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CACCACTTCCTGTGGAAACTG	0.488																																					p.P177P		Atlas-SNP	.											.	MYCT1	48	.	0			c.T531A						.						90.0	87.0	88.0					6																	153043211		2203	4300	6503	SO:0001819	synonymous_variant	80177	exon2			ACTTCCTGTGGAA	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.531T>A	chr6.hg19:g.153043211T>A		85.0	0.0		77.0	32.0	NM_025107	Q8N396|Q8TBE8|Q9H763	Silent	SNP	ENST00000367245.5	hg19	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	T	8.781	0.928196	0.18131	.	.	ENSG00000120279	ENST00000532295	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.44283	-0.9338	4	.	.	.	-24.9109	3.4935	0.07646	0.1414:0.2162:0.1408:0.5015	.	.	.	.	Q	158	.	.	L	+	2	0	MYCT1	153084904	0.000000	0.05858	0.151000	0.22473	0.953000	0.61014	-3.099000	0.00605	-2.683000	0.00407	-0.468000	0.05107	CTG	.	.		0.488	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107	
NOX3	50508	hgsc.bcm.edu	37	6	155776903	155776903	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:155776903A>G	ENST00000159060.2	-	1	134	c.32T>C	c.(31-33)cTc>cCc	p.L11P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	11					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TATGGTGGAGAGACCCTCATT	0.368																																					p.L11P		Atlas-SNP	.											.	NOX3	93	.	0			c.T32C						.						96.0	91.0	93.0					6																	155776903		2203	4300	6503	SO:0001583	missense	50508	exon1			GTGGAGAGACCCT	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.32T>C	chr6.hg19:g.155776903A>G	ENSP00000159060:p.Leu11Pro	95.0	0.0		84.0	35.0	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	hg19	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	4.364	0.066988	0.08388	.	.	ENSG00000074771	ENST00000159060	D	0.95821	-3.82	6.16	2.33	0.28932	.	0.235332	0.30085	N	0.010459	D	0.87834	0.6277	L	0.37850	1.14	0.19775	N	0.999956	P	0.50710	0.938	P	0.47470	0.548	T	0.82135	-0.0607	10	0.33940	T	0.23	-7.4196	8.7579	0.34656	0.6973:0.2404:0.0623:0.0	.	11	Q9HBY0	NOX3_HUMAN	P	11	ENSP00000159060:L11P	ENSP00000159060:L11P	L	-	2	0	NOX3	155818595	0.996000	0.38824	0.000000	0.03702	0.048000	0.14542	2.188000	0.42612	0.154000	0.19237	0.528000	0.53228	CTC	.	.		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
ARID1B	57492	hgsc.bcm.edu	37	6	157528624	157528624	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:157528624A>T	ENST00000350026.5	+	19	6311	c.6310A>T	c.(6310-6312)Agg>Tgg	p.R2104W	ARID1B_ENST00000367148.1_Missense_Mutation_p.R2157W|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2117W|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2099W	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2104					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACATTAGTTAGGTACGTTGG	0.493																																					p.R2117W		Atlas-SNP	.											.	ARID1B	320	.	0			c.A6349T						.						187.0	196.0	193.0					6																	157528624		2203	4296	6499	SO:0001583	missense	57492	exon20			TTAGTTAGGTACG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6310A>T	chr6.hg19:g.157528624A>T	ENSP00000055163:p.Arg2104Trp	56.0	0.0		47.0	21.0	NM_020732	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	hg19	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201870	0.38905	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.994	T	0.63537	-0.6615	10	0.87932	D	0	.	15.477	0.75489	1.0:0.0:0.0:0.0	.	2104;2117;2099	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	W	2117;2104;2157;2099;1626	ENSP00000344546:R2117W;ENSP00000055163:R2104W;ENSP00000356116:R2157W;ENSP00000275248:R2099W;ENSP00000412835:R1626W	ENSP00000275248:R2099W	R	+	1	2	ARID1B	157570316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.742000	0.62103	2.108000	0.64289	0.533000	0.62120	AGG	.	.		0.493	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
TAGAP	117289	hgsc.bcm.edu	37	6	159463252	159463252	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:159463252A>C	ENST00000367066.3	-	5	504	c.173T>G	c.(172-174)cTg>cGg	p.L58R	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.L58R|TAGAP_ENST00000326965.6_Intron	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	58					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)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGCCAGGACAGCACCTTCTT	0.438																																					p.L58R		Atlas-SNP	.											.	TAGAP	75	.	0			c.T173G						.						142.0	153.0	149.0					6																	159463252		2203	4300	6503	SO:0001583	missense	117289	exon5			CAGGACAGCACCT	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.173T>G	chr6.hg19:g.159463252A>C	ENSP00000356033:p.Leu58Arg	131.0	0.0		105.0	39.0	NM_138810	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	hg19	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082557	0.36758	.	.	ENSG00000164691	ENST00000367066;ENST00000338313	T;T	0.22743	2.09;1.94	5.93	2.08	0.27032	.	0.367431	0.22908	N	0.054171	T	0.03915	0.0110	L	0.27053	0.805	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.14023	0.01;0.007	T	0.43893	-0.9363	10	0.23891	T	0.37	-2.9721	7.0707	0.25177	0.7426:0.1247:0.1327:0.0	.	58;58	Q8N103-4;Q8N103	.;TAGAP_HUMAN	R	58	ENSP00000356033:L58R;ENSP00000340217:L58R	ENSP00000340217:L58R	L	-	2	0	TAGAP	159383240	0.022000	0.18835	0.006000	0.13384	0.990000	0.78478	2.725000	0.47294	0.120000	0.18254	0.482000	0.46254	CTG	.	.		0.438	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
IGF2R	3482	hgsc.bcm.edu	37	6	160469571	160469571	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:160469571A>G	ENST00000356956.1	+	18	2658	c.2510A>G	c.(2509-2511)gAt>gGt	p.D837G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	837					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TATGAAAAAGATCAGGTGAAT	0.488																																					p.D837G		Atlas-SNP	.											.	IGF2R	251	.	0			c.A2510G						.						85.0	73.0	77.0					6																	160469571		2203	4300	6503	SO:0001583	missense	3482	exon18			AAAAAGATCAGGT	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2510A>G	chr6.hg19:g.160469571A>G	ENSP00000349437:p.Asp837Gly	70.0	0.0		49.0	19.0	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	hg19	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310878	0.23821	.	.	ENSG00000197081	ENST00000356956	T	0.03607	3.87	5.16	1.36	0.22044	Mannose-6-phosphate receptor, binding (1);	1.255190	0.05236	N	0.511184	T	0.00998	0.0033	L	0.38838	1.175	0.09310	N	1	B	0.24317	0.101	B	0.28916	0.096	T	0.49615	-0.8921	10	0.20046	T	0.44	-7.5952	2.1463	0.03788	0.5926:0.1325:0.1473:0.1276	.	837	P11717	MPRI_HUMAN	G	837	ENSP00000349437:D837G	ENSP00000349437:D837G	D	+	2	0	IGF2R	160389561	0.001000	0.12720	0.000000	0.03702	0.064000	0.16182	1.517000	0.35867	0.001000	0.14605	0.533000	0.62120	GAT	.	.		0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
PLG	5340	hgsc.bcm.edu	37	6	161160115	161160115	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:161160115A>G	ENST00000308192.9	+	16	1956	c.1893A>G	c.(1891-1893)tcA>tcG	p.S631S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	631	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAAGGCCTTCATCCTACAAGG	0.498																																					p.S631S		Atlas-SNP	.											.	PLG	150	.	0			c.A1893G						.						168.0	156.0	160.0					6																	161160115		2203	4300	6503	SO:0001819	synonymous_variant	5340	exon16			GCCTTCATCCTAC	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1893A>G	chr6.hg19:g.161160115A>G		104.0	0.0		121.0	48.0	NM_000301	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	hg19	CCDS5279.1																																																																																			.	.		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
MAP3K4	4216	hgsc.bcm.edu	37	6	161523729	161523729	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:161523729A>T	ENST00000392142.4	+	19	3923		c.e19-1		MAP3K4_ENST00000348824.7_Splice_Site|MAP3K4_ENST00000366919.2_Splice_Site|MAP3K4_ENST00000366920.2_Splice_Site	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4						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)		AACTTCCTGCAGAACCAGCAT	0.373																																					.		Atlas-SNP	.											.	MAP3K4	364	.	0			c.3626-2A>T						.						35.0	35.0	35.0					6																	161523729		2203	4300	6503	SO:0001630	splice_region_variant	4216	exon18			TCCTGCAGAACCA	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.3776-1A>T	chr6.hg19:g.161523729A>T		396.0	0.0		307.0	149.0	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Splice_Site	SNP	ENST00000392142.4	hg19	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912701	0.72983	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2821	0.73794	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K4	161443719	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.674000	0.91191	2.013000	0.59113	0.533000	0.62120	.	.	.		0.373	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		Intron
PDE10A	10846	hgsc.bcm.edu	37	6	165863831	165863831	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:165863831T>G	ENST00000366882.1	-	5	369	c.215A>C	c.(214-216)cAg>cCg	p.Q72P	PDE10A_ENST00000539869.2_Missense_Mutation_p.Q82P|PDE10A_ENST00000354448.4_Missense_Mutation_p.Q72P			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	72					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAACTCCCTGCATATTCGT	0.318																																					p.Q82P	Esophageal Squamous(22;308 615 5753 12038 40624)	Atlas-SNP	.											.	PDE10A	154	.	0			c.A245C						.						137.0	124.0	128.0					6																	165863831		2203	4300	6503	SO:0001583	missense	10846	exon4			ACTCCCTGCATAT	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.215A>C	chr6.hg19:g.165863831T>G	ENSP00000355847:p.Gln72Pro	81.0	0.0		75.0	26.0	NM_001130690	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.99	3.740028	0.69304	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.71461	-0.57;-0.57	4.61	4.61	0.57282	.	0.106366	0.64402	D	0.000003	T	0.70622	0.3245	L	0.44542	1.39	0.58432	D	0.999998	D;B	0.61697	0.99;0.026	D;B	0.70487	0.969;0.018	T	0.70171	-0.4945	10	0.33141	T	0.24	.	14.3089	0.66403	0.0:0.0:0.0:1.0	.	82;72	Q9ULW9;Q9Y233	.;PDE10_HUMAN	P	72;100;82;72;71	ENSP00000355847:Q72P;ENSP00000346435:Q72P	ENSP00000341187:Q82P	Q	-	2	0	PDE10A	165783821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.708000	0.84633	1.843000	0.53566	0.460000	0.39030	CAG	.	.		0.318	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
T	6862	hgsc.bcm.edu	37	6	166578331	166578331	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:166578331T>A	ENST00000296946.2	-	5	1093	c.625A>T	c.(625-627)Aag>Tag	p.K209*	T_ENST00000366871.3_Nonsense_Mutation_p.K209*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	209					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATTGTACTTAATTTTAAGA	0.343									Chordoma, Familial Clustering of																												p.K209X		Atlas-SNP	.											.	T	77	.	0			c.A625T						.						53.0	57.0	56.0					6																	166578331		2203	4297	6500	SO:0001587	stop_gained	6862	exon5	Familial Cancer Database		TGTACTTAATTTT	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.625A>T	chr6.hg19:g.166578331T>A	ENSP00000296946:p.Lys209*	108.0	0.0		59.0	34.0	NM_003181	E7ERD6|Q4KMP4	Nonsense_Mutation	SNP	ENST00000296946.2	hg19	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	T	37	6.388846	0.97529	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2284	0.65875	0.0:0.0:0.0:1.0	.	.	.	.	X	209	.	ENSP00000296946:K209X	K	-	1	0	T	166498321	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.100000	0.76989	1.957000	0.56846	0.528000	0.53228	AAG	.	.		0.343	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
CCR6	1235	hgsc.bcm.edu	37	6	167550197	167550197	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:167550197C>A	ENST00000341935.5	+	3	1031	c.479C>A	c.(478-480)aCa>aAa	p.T160K	CCR6_ENST00000349984.4_Missense_Mutation_p.T160K|CCR6_ENST00000400926.2_Missense_Mutation_p.T160K|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	160					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CGATCCAGAACACTACCGCGC	0.498																																					p.T160K		Atlas-SNP	.											.	CCR6	36	.	0			c.C479A						.						78.0	78.0	78.0					6																	167550197		2203	4300	6503	SO:0001583	missense	1235	exon3			CCAGAACACTACC	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.479C>A	chr6.hg19:g.167550197C>A	ENSP00000343952:p.Thr160Lys	78.0	0.0		58.0	18.0	NM_004367	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	hg19	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670084	0.29693	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.40756	1.02;1.02;1.02	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.083518	0.50627	U	0.000113	T	0.23766	0.0575	L	0.55481	1.735	0.39696	D	0.971116	B	0.24721	0.11	B	0.29077	0.098	T	0.13255	-1.0516	10	0.08837	T	0.75	.	17.1529	0.86782	0.0:1.0:0.0:0.0	.	160	P51684	CCR6_HUMAN	K	160	ENSP00000383715:T160K;ENSP00000343952:T160K;ENSP00000339393:T160K	ENSP00000343952:T160K	T	+	2	0	CCR6	167470187	0.360000	0.24964	0.000000	0.03702	0.002000	0.02628	2.901000	0.48695	2.264000	0.75181	0.655000	0.94253	ACA	.	.		0.498	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
SNX8	29886	hgsc.bcm.edu	37	7	2317782	2317782	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:2317782T>C	ENST00000222990.3	-	2	295	c.253A>G	c.(253-255)Aag>Gag	p.K85E		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	85	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGGCCCTTCTTCTCCGGAATG	0.602																																					p.K85E		Atlas-SNP	.											.	SNX8	46	.	0			c.A253G						.						100.0	86.0	91.0					7																	2317782		2203	4300	6503	SO:0001583	missense	29886	exon2			CCTTCTTCTCCGG	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.253A>G	chr7.hg19:g.2317782T>C	ENSP00000222990:p.Lys85Glu	76.0	0.0		64.0	25.0	NM_013321	A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	hg19	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999360	0.74818	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336;ENST00000447136;ENST00000419693	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.16	5.16	0.70880	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.91972	3.26	0.58432	D	0.999998	P	0.48294	0.908	P	0.53912	0.737	T	0.75158	-0.3416	10	0.72032	D	0.01	.	14.9676	0.71208	0.0:0.0:0.0:1.0	.	85	Q9Y5X2	SNX8_HUMAN	E	85;71;32;32;32;32	ENSP00000222990:K85E;ENSP00000392437:K71E;ENSP00000406954:K32E;ENSP00000406212:K32E;ENSP00000403608:K32E	ENSP00000222990:K85E	K	-	1	0	SNX8	2284308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.363000	0.79516	1.933000	0.56026	0.533000	0.62120	AAG	.	.		0.602	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2		
CARD11	84433	hgsc.bcm.edu	37	7	2983944	2983944	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:2983944T>A	ENST00000396946.4	-	5	989	c.586A>T	c.(586-588)Aag>Tag	p.K196*	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	196					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTTCACCTTGACCAGCTCG	0.552			Mis		DLBCL																																p.K196X		Atlas-SNP	.		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	CARD11	339	.	0			c.A586T						.						270.0	161.0	198.0					7																	2983944		2203	4300	6503	SO:0001587	stop_gained	84433	exon5			TCACCTTGACCAG	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.586A>T	chr7.hg19:g.2983944T>A	ENSP00000380150:p.Lys196*	127.0	0.0		99.0	45.0	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	ENST00000396946.4	hg19	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	41	8.972946	0.99021	.	.	ENSG00000198286	ENST00000396946	.	.	.	4.16	2.96	0.34315	.	0.168937	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-37.1486	10.7146	0.46005	0.0:0.0:0.1605:0.8395	.	.	.	.	X	196	.	ENSP00000380150:K196X	K	-	1	0	CARD11	2950470	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.728000	0.54991	0.541000	0.28827	0.459000	0.35465	AAG	.	.		0.552	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
CARD11	84433	hgsc.bcm.edu	37	7	2987406	2987406	+	Missense_Mutation	SNP	A	A	C	rs368132142		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:2987406A>C	ENST00000396946.4	-	3	426	c.23T>G	c.(22-24)aTg>aGg	p.M8R	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	8					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTAGTCATCCATCTCTGGCCC	0.493			Mis		DLBCL																																p.M8R		Atlas-SNP	.		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	.	CARD11	339	.	0			c.T23G						.	A	ARG/MET	0,4406		0,0,2203	188.0	167.0	174.0		23	4.1	1.0	7		174	1,8599		0,1,4299	no	missense	CARD11	NM_032415.4	91	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	8/1155	2987406	1,13005	2203	4300	6503	SO:0001583	missense	84433	exon3			TCATCCATCTCTG	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.23T>G	chr7.hg19:g.2987406A>C	ENSP00000380150:p.Met8Arg	102.0	0.0		103.0	45.0	NM_032415	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	hg19	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820629	0.50633	0.0	1.16E-4	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.56275	1.45;0.47	5.21	4.05	0.47172	.	0.084546	0.85682	D	0.000000	T	0.41003	0.1140	L	0.47716	1.5	0.49798	D	0.999828	P	0.45531	0.86	B	0.35607	0.206	T	0.35051	-0.9804	10	0.62326	D	0.03	-44.657	9.6852	0.40094	0.9203:0.0:0.0797:0.0	.	8	Q9BXL7	CAR11_HUMAN	R	8	ENSP00000380150:M8R;ENSP00000348779:M8R	ENSP00000348779:M8R	M	-	2	0	CARD11	2953932	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.985000	0.63845	0.821000	0.34540	0.459000	0.35465	ATG	.	.		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
FOXK1	221937	hgsc.bcm.edu	37	7	4794986	4794986	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:4794986A>G	ENST00000328914.4	+	4	1022	c.1022A>G	c.(1021-1023)tAc>tGc	p.Y341C	FOXK1_ENST00000446823.1_Missense_Mutation_p.Y178C	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CATTACCCCTACTACCGGACG	0.612																																					p.Y341C		Atlas-SNP	.											.	FOXK1	64	.	0			c.A1022G						.						56.0	52.0	53.0					7																	4794986		2203	4300	6503	SO:0001583	missense	221937	exon4			ACCCCTACTACCG	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1022A>G	chr7.hg19:g.4794986A>G	ENSP00000328720:p.Tyr341Cys	105.0	0.0		99.0	29.0	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	hg19	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691281	0.88735	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97598	-4.45;-4.45	5.45	5.45	0.79879	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.99764	1.1022	10	0.87932	D	0	.	14.7231	0.69323	1.0:0.0:0.0:0.0	.	341;178	P85037;P85037-2	FOXK1_HUMAN;.	C	178;105;341;224	ENSP00000394442:Y178C;ENSP00000328720:Y341C	ENSP00000328720:Y341C	Y	+	2	0	FOXK1	4761512	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	9.306000	0.96204	2.064000	0.61679	0.533000	0.62120	TAC	.	.		0.612	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
SLC29A4	222962	hgsc.bcm.edu	37	7	5336593	5336593	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:5336593A>G	ENST00000396872.3	+	7	807	c.646A>G	c.(646-648)Agc>Ggc	p.S216G	SLC29A4_ENST00000297195.4_Missense_Mutation_p.S216G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.S202G			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	216					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GATCTCTCTGAGCCGCATCCT	0.706																																					p.S216G		Atlas-SNP	.											.	SLC29A4	52	.	0			c.A646G						.						13.0	14.0	14.0					7																	5336593		2163	4210	6373	SO:0001583	missense	222962	exon7			TCTCTGAGCCGCA	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.646A>G	chr7.hg19:g.5336593A>G	ENSP00000380081:p.Ser216Gly	18.0	0.0		24.0	10.0	NM_153247	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	hg19	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.004066	0.74932	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.74737	-0.87;-0.87;-0.02	3.45	3.45	0.39498	Major facilitator superfamily domain, general substrate transporter (1);	0.110120	0.64402	D	0.000016	D	0.83335	0.5232	M	0.73598	2.24	0.44515	D	0.997461	D;P	0.71674	0.998;0.938	D;P	0.76071	0.987;0.831	T	0.83131	-0.0113	10	0.45353	T	0.12	-4.2427	10.8033	0.46502	1.0:0.0:0.0:0.0	.	202;216	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	G	216;216;202	ENSP00000380081:S216G;ENSP00000297195:S216G;ENSP00000385845:S202G	ENSP00000297195:S216G	S	+	1	0	SLC29A4	5303119	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.233000	0.72320	1.351000	0.45789	0.454000	0.30748	AGC	.	.		0.706	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
TNRC18	84629	hgsc.bcm.edu	37	7	5410083	5410083	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:5410083T>G	ENST00000430969.1	-	11	4490	c.4142A>C	c.(4141-4143)cAg>cCg	p.Q1381P	TNRC18_ENST00000399537.4_Missense_Mutation_p.Q1381P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1381							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGAAGCTCTGCTCCAAGAC	0.642																																					p.Q1381P		Atlas-SNP	.											.	TNRC18	311	.	0			c.A4142C						.						28.0	28.0	28.0					7																	5410083		2147	4251	6398	SO:0001583	missense	84629	exon11			AAGCTCTGCTCCA	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4142A>C	chr7.hg19:g.5410083T>G	ENSP00000395538:p.Gln1381Pro	51.0	0.0		47.0	20.0	NM_001080495	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	hg19	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	T	4.795	0.147749	0.09134	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12255	2.7;2.7	4.72	3.54	0.40534	.	0.000000	0.31821	N	0.007007	T	0.15998	0.0385	M	0.70275	2.135	0.23620	N	0.997273	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.30078	T	0.28	.	10.3758	0.44081	0.0:0.0:0.1643:0.8357	.	1381	O15417	TNC18_HUMAN	P	1381;1381;436;436	ENSP00000382452:Q1381P;ENSP00000395538:Q1381P	ENSP00000330383:Q436P	Q	-	2	0	TNRC18	5376609	1.000000	0.71417	0.999000	0.59377	0.341000	0.28922	3.229000	0.51278	0.636000	0.30508	0.260000	0.18958	CAG	.	.		0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
USP42	84132	hgsc.bcm.edu	37	7	6183734	6183734	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:6183734A>T	ENST00000306177.5	+	9	1055	c.897A>T	c.(895-897)ccA>ccT	p.P299P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	299	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGATGGTTCCAGCTTCAAAGA	0.333																																					p.P299P		Atlas-SNP	.											.	USP42	138	.	0			c.A897T						.						135.0	123.0	127.0					7																	6183734		1828	4097	5925	SO:0001819	synonymous_variant	84132	exon9			GGTTCCAGCTTCA	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.897A>T	chr7.hg19:g.6183734A>T		73.0	0.0		64.0	25.0	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	hg19	CCDS47535.1																																																																																			.	.		0.333	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
GRID2IP	392862	hgsc.bcm.edu	37	7	6560210	6560210	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:6560210T>A	ENST00000457091.2	-	7	1266	c.1267A>T	c.(1267-1269)Agg>Tgg	p.R423W	GRID2IP_ENST00000435185.1_Splice_Site_p.R240W|GRID2IP_ENST00000452113.1_Splice_Site_p.R233W	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	423					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						CCCGGCCACCTGTGCTGGAAG	0.667																																					p.R423W		Atlas-SNP	.											.	GRID2IP	82	.	0			c.A1267T						.						28.0	35.0	33.0					7																	6560210		692	1591	2283	SO:0001630	splice_region_variant	392862	exon7			GCCACCTGTGCTG		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1268+1A>T	chr7.hg19:g.6560210T>A		65.0	0.0		67.0	28.0	NM_001145118		Missense_Mutation	SNP	ENST00000457091.2	hg19	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230897	0.79688	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.58940	0.3;0.3;0.32	5.08	5.08	0.68730	.	0.051359	0.85682	U	0.000000	T	0.72366	0.3451	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75551	-0.3278	10	0.87932	D	0	.	13.1124	0.59281	0.0:0.0:0.0:1.0	.	423	A4D2P6	GRD2I_HUMAN	W	233;240;423	ENSP00000397887:R233W;ENSP00000408364:R240W;ENSP00000397351:R423W	ENSP00000408364:R240W	R	-	1	2	GRID2IP	6526735	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.923000	0.63412	2.041000	0.60428	0.448000	0.29417	AGG	.	.		0.667	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	Missense_Mutation
COL28A1	340267	hgsc.bcm.edu	37	7	7530242	7530242	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:7530242T>A	ENST00000399429.3	-	12	1202	c.1062A>T	c.(1060-1062)ccA>ccT	p.P354P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	354	Collagen-like 2.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAGGAGCTCCTGGAGAACCAT	0.458																																					p.P354P		Atlas-SNP	.											.	COL28A1	113	.	0			c.A1062T						.						48.0	50.0	49.0					7																	7530242		1847	4079	5926	SO:0001819	synonymous_variant	340267	exon12			AGCTCCTGGAGAA	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1062A>T	chr7.hg19:g.7530242T>A		62.0	0.0		87.0	39.0	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	hg19	CCDS43553.1																																																																																			.	.		0.458	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
MIOS	54468	hgsc.bcm.edu	37	7	7612424	7612424	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:7612424A>G	ENST00000340080.4	+	4	739	c.318A>G	c.(316-318)aaA>aaG	p.K106K	MIOS_ENST00000405785.1_Silent_p.K106K	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	106						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGATAGGAAAAGAGTTTGTTC	0.423																																					p.K106K		Atlas-SNP	.											.	MIOS	68	.	0			c.A318G						.						132.0	122.0	125.0					7																	7612424		1889	4107	5996	SO:0001819	synonymous_variant	54468	exon4			AGGAAAAGAGTTT		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.318A>G	chr7.hg19:g.7612424A>G		87.0	0.0		89.0	36.0	NM_019005	B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	hg19	CCDS43554.1																																																																																			.	.		0.423	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005	
ICA1	3382	hgsc.bcm.edu	37	7	8167517	8167517	+	Missense_Mutation	SNP	T	T	A	rs368311237		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:8167517T>A	ENST00000402384.3	-	13	1582	c.1316A>T	c.(1315-1317)cAg>cTg	p.Q439L	ICA1_ENST00000265577.7_Missense_Mutation_p.Q438L|ICA1_ENST00000401396.1_Missense_Mutation_p.Q427L|ICA1_ENST00000406470.2_Missense_Mutation_p.Q439L|ICA1_ENST00000422063.2_Missense_Mutation_p.Q468L|ICA1_ENST00000396675.3_Missense_Mutation_p.Q439L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	439					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TAGCGAGGCCTGTAAGTCTTT	0.458																																					p.Q439L		Atlas-SNP	.											.	ICA1	65	.	0			c.A1316T						.						135.0	151.0	146.0					7																	8167517		2199	4300	6499	SO:0001583	missense	3382	exon13			GAGGCCTGTAAGT		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1316A>T	chr7.hg19:g.8167517T>A	ENSP00000385570:p.Gln439Leu	68.0	0.0		58.0	29.0	NM_022307	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	hg19	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	T	9.209	1.030421	0.19512	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.64	5.64	0.86602	Islet cell autoantigen Ica1, C-terminal (1);	0.393296	0.27811	N	0.017752	T	0.41926	0.1180	N	0.21448	0.665	0.40857	D	0.983809	B;B;B;B	0.09022	0.002;0.001;0.001;0.002	B;B;B;B	0.13407	0.009;0.004;0.006;0.007	T	0.32640	-0.9899	9	0.25106	T	0.35	-9.6178	10.9881	0.47532	0.1393:0.0:0.0:0.8606	.	468;438;439;427	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	L	439;439;438;439;427;468	.	ENSP00000265577:Q438L	Q	-	2	0	ICA1	8134042	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	3.953000	0.56699	2.287000	0.76781	0.482000	0.46254	CAG	.	.		0.458	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
FERD3L	222894	hgsc.bcm.edu	37	7	19184845	19184845	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:19184845T>A	ENST00000275461.3	-	1	199	c.141A>T	c.(139-141)cgA>cgT	p.R47R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	47					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GTCTTCCCTCTCGGAGCGCAA	0.657																																					p.R47R		Atlas-SNP	.											.	FERD3L	63	.	0			c.A141T						.						52.0	41.0	44.0					7																	19184845		2203	4300	6503	SO:0001819	synonymous_variant	222894	exon1			TCCCTCTCGGAGC	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.141A>T	chr7.hg19:g.19184845T>A		44.0	0.0		37.0	18.0	NM_152898	Q495K0	Silent	SNP	ENST00000275461.3	hg19	CCDS5368.1																																																																																			.	.		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1		
MACC1	346389	hgsc.bcm.edu	37	7	20193914	20193914	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:20193914A>T	ENST00000400331.5	-	6	2556	c.2248T>A	c.(2248-2250)Tgg>Agg	p.W750R	MACC1_ENST00000332878.4_Missense_Mutation_p.W750R|MACC1-AS1_ENST00000439285.1_RNA|MACC1_ENST00000589011.1_Missense_Mutation_p.W750R	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	750					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGTTCCCTCCAGCCTTTTCCA	0.463																																					p.W750R		Atlas-SNP	.											.	MACC1	99	.	0			c.T2248A						.						134.0	116.0	122.0					7																	20193914		2203	4300	6503	SO:0001583	missense	346389	exon6			CCCTCCAGCCTTT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2248T>A	chr7.hg19:g.20193914A>T	ENSP00000383185:p.Trp750Arg	94.0	0.0		99.0	46.0	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	hg19	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865063	0.91511	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.35048	1.33;1.33	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68808	-0.5311	10	0.87932	D	0	-5.7112	15.5174	0.75837	1.0:0.0:0.0:0.0	.	750	Q6ZN28	MACC1_HUMAN	R	750	ENSP00000383185:W750R;ENSP00000328410:W750R	ENSP00000328410:W750R	W	-	1	0	MACC1	20160439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.061000	0.61500	0.533000	0.62120	TGG	.	.		0.463	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ABCB5	340273	hgsc.bcm.edu	37	7	20683101	20683101	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:20683101G>C	ENST00000404938.2	+	7	1176	c.524G>C	c.(523-525)aGt>aCt	p.S175T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	175	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACAAAATCAGTGATGGTATT	0.373																																					p.S175T		Atlas-SNP	.											.	ABCB5	357	.	0			c.G524C						.						227.0	199.0	207.0					7																	20683101		1568	3582	5150	SO:0001583	missense	340273	exon7			AAATCAGTGATGG	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.524G>C	chr7.hg19:g.20683101G>C	ENSP00000384881:p.Ser175Thr	102.0	0.0		96.0	11.0	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703740	0.15172	.	.	ENSG00000004846	ENST00000404938	D	0.90261	-2.64	3.85	0.51	0.16983	.	.	.	.	.	T	0.80665	0.4666	N	0.25890	0.77	0.58432	D	0.999995	P	0.35272	0.493	B	0.29440	0.102	T	0.72962	-0.4132	9	0.72032	D	0.01	.	6.9579	0.24582	0.433:0.0:0.567:0.0	.	175	A7BKA4	.	T	175	ENSP00000384881:S175T	ENSP00000384881:S175T	S	+	2	0	ABCB5	20649626	0.299000	0.24426	0.964000	0.40570	0.307000	0.27823	2.037000	0.41174	0.090000	0.17273	0.563000	0.77884	AGT	.	.		0.373	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	hgsc.bcm.edu	37	7	20778743	20778743	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:20778743G>T	ENST00000404938.2	+	24	3657	c.3005G>T	c.(3004-3006)aGt>aTt	p.S1002I	ABCB5_ENST00000258738.6_Missense_Mutation_p.S557I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1002					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACAGCCGCAGTCAAGAAGGG	0.473																																					p.S1002I		Atlas-SNP	.											.	ABCB5	357	.	0			c.G3005T						.						45.0	40.0	41.0					7																	20778743		2203	4299	6502	SO:0001583	missense	340273	exon24			GCCGCAGTCAAGA	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3005G>T	chr7.hg19:g.20778743G>T	ENSP00000384881:p.Ser1002Ile	54.0	0.0		70.0	25.0	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592409	0.28357	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.75821	-0.97;-0.97	4.58	2.62	0.31277	.	0.177869	0.38164	N	0.001793	D	0.83207	0.5204	M	0.82193	2.58	0.31994	N	0.604219	D;D	0.67145	0.996;0.982	D;D	0.66196	0.942;0.924	D	0.84257	0.0481	10	0.87932	D	0	.	7.9165	0.29820	0.0954:0.1648:0.7398:0.0	.	1002;557	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	I	1002;557	ENSP00000384881:S1002I;ENSP00000258738:S557I	ENSP00000258738:S557I	S	+	2	0	ABCB5	20745268	0.993000	0.37304	0.986000	0.45419	0.169000	0.22640	1.790000	0.38734	1.308000	0.44962	0.484000	0.47621	AGT	.	.		0.473	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	hgsc.bcm.edu	37	7	21630534	21630534	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:21630534A>T	ENST00000409508.3	+	13	2200		c.e13-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTATTTTAATAGCTAGTGGCT	0.274									Kartagener syndrome																												.		Atlas-SNP	.											.	DNAH11	584	.	0			c.2170-2A>T						.						22.0	22.0	22.0					7																	21630534		1781	4040	5821	SO:0001630	splice_region_variant	8701	exon13	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TTTAATAGCTAGT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2170-1A>T	chr7.hg19:g.21630534A>T		236.0	0.0		194.0	99.0	NM_001277115	Q9UJ82	Splice_Site	SNP	ENST00000409508.3	hg19		.	.	.	.	.	.	.	.	.	.	A	16.28	3.079675	0.55753	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.9	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4171	0.49958	0.8487:0.1513:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21597059	1.000000	0.71417	0.768000	0.31515	0.752000	0.42762	7.572000	0.82409	1.017000	0.39495	0.528000	0.53228	.	.	.		0.274	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron
HOXA13	3209	hgsc.bcm.edu	37	7	27238961	27238961	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:27238961T>C	ENST00000222753.4	-	1	764	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	246					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TAGCCAGGCATGGGCTGATGG	0.672			T	NUP98	AML																																p.M246V		Atlas-SNP	.		Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	.	HOXA13	25	.	0			c.A736G						.						40.0	44.0	43.0					7																	27238961		2203	4300	6503	SO:0001583	missense	3209	exon1			CAGGCATGGGCTG		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.736A>G	chr7.hg19:g.27238961T>C	ENSP00000222753:p.Met246Val	74.0	0.0		83.0	36.0	NM_000522	A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	hg19	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	T	1.387	-0.581761	0.03854	.	.	ENSG00000106031	ENST00000222753	T	0.57107	0.42	4.43	3.54	0.40534	.	0.207707	0.39759	N	0.001277	T	0.21103	0.0508	N	0.03000	-0.44	0.24802	N	0.992695	B	0.17038	0.02	B	0.11329	0.006	T	0.28235	-1.0050	10	0.02654	T	1	.	8.0395	0.30513	0.0:0.8787:0.0:0.1213	.	246	P31271	HXA13_HUMAN	V	246	ENSP00000222753:M246V	ENSP00000222753:M246V	M	-	1	0	HOXA13	27205486	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.482000	0.60257	0.956000	0.37904	-0.474000	0.04947	ATG	.	.		0.672	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3		
TAX1BP1	8887	hgsc.bcm.edu	37	7	27833956	27833956	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:27833956T>C	ENST00000396319.2	+	11	1513	c.1425T>C	c.(1423-1425)aaT>aaC	p.N475N	TAX1BP1_ENST00000543117.1_Silent_p.N475N|TAX1BP1_ENST00000433216.2_Silent_p.N318N|TAX1BP1_ENST00000409980.1_Silent_p.N475N|TAX1BP1_ENST00000265393.6_Silent_p.N475N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	475					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATAATAATAATGTCTTCACAA	0.328																																					p.N475N		Atlas-SNP	.											.	TAX1BP1	71	.	0			c.T1425C						.						57.0	58.0	58.0					7																	27833956		2203	4300	6503	SO:0001819	synonymous_variant	8887	exon11			TAATAATGTCTTC	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1425T>C	chr7.hg19:g.27833956T>C		224.0	0.0		221.0	94.0	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	hg19	CCDS5415.1																																																																																			.	.		0.328	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
CPVL	54504	hgsc.bcm.edu	37	7	29103852	29103852	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:29103852T>A	ENST00000409850.1	-	15	1610		c.e15-2		CPVL_ENST00000396276.3_Splice_Site|CPVL_ENST00000265394.5_Splice_Site			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like							extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCAGGTTCCTGGCAGAAGGG	0.428																																					.		Atlas-SNP	.											.	CPVL	60	.	0			c.964-2A>T						.						64.0	66.0	65.0					7																	29103852		2203	4300	6503	SO:0001630	splice_region_variant	54504	exon12			GGTTCCTGGCAGA	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.964-2A>T	chr7.hg19:g.29103852T>A		65.0	0.0		72.0	30.0	NM_019029	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Splice_Site	SNP	ENST00000409850.1	hg19	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768777	0.69878	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000432534;ENST00000409850;ENST00000542995	.	.	.	5.87	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1348	0.48368	0.0:0.0731:0.0:0.9269	.	.	.	.	.	-1	.	.	.	-	.	.	CPVL	29070377	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.136000	0.77285	1.160000	0.42584	0.533000	0.62120	.	.	.		0.428	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	Intron
WIPF3	644150	hgsc.bcm.edu	37	7	29915478	29915478	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:29915478A>C	ENST00000409290.1	+	2	123	c.123A>C	c.(121-123)gcA>gcC	p.A41A	WIPF3_ENST00000409123.1_Silent_p.A41A|WIPF3_ENST00000242140.5_Silent_p.A41A	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	41					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TGCGAAGGGCAGATCCGAAAG	0.522																																					p.A41A		Atlas-SNP	.											.	WIPF3	46	.	0			c.A123C						.						64.0	72.0	69.0					7																	29915478		2110	4242	6352	SO:0001819	synonymous_variant	644150	exon3			AAGGGCAGATCCG	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.123A>C	chr7.hg19:g.29915478A>C		251.0	0.0		168.0	69.0	NM_001080529	B8ZZV2	Silent	SNP	ENST00000409290.1	hg19	CCDS56472.1																																																																																			.	.		0.522	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
CRHR2	1395	hgsc.bcm.edu	37	7	30739585	30739585	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:30739585C>T	ENST00000348438.4	-	1	134	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	CRHR2_ENST00000462882.1_5'UTR|INMT_ENST00000484180.1_Intron	NM_001202475.1|NM_001202481.1	NP_001189404.1|NP_001189410.1	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGGAGGAGGCAGAGCAGGCA	0.672																																					p.C22Y		Atlas-SNP	.											.	CRHR2	104	.	0			c.G65A						.																																			SO:0001583	missense	1395	exon1			AGGAGGCAGAGCA		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000348438.4:c.65G>A	chr7.hg19:g.30739585C>T	ENSP00000340943:p.Cys22Tyr	63.0	0.0		39.0	17.0	NM_001202475	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000348438.4	hg19	CCDS56478.1	.	.	.	.	.	.	.	.	.	.	C	6.200	0.405055	0.11754	.	.	ENSG00000106113	ENST00000348438;ENST00000445981	T	0.38560	1.13	3.02	2.1	0.27182	.	0.495729	0.18437	N	0.141251	T	0.50017	0.1591	.	.	.	0.58432	D	0.999993	D;D;P	0.71674	0.998;0.994;0.891	D;P;B	0.68353	0.957;0.857;0.264	T	0.43410	-0.9393	9	0.16896	T	0.51	.	7.7518	0.28901	0.0:0.7224:0.2776:0.0	.	22;22;22	F2Z2M6;C9JZM9;Q13324-2	.;.;.	Y	22	ENSP00000340943:C22Y	ENSP00000340943:C22Y	C	-	2	0	CRHR2	30706110	0.997000	0.39634	0.847000	0.33407	0.097000	0.18754	0.485000	0.22324	0.803000	0.34113	0.591000	0.81541	TGC	.	.		0.672	CRHR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327785.1		
PPP1R17	10842	hgsc.bcm.edu	37	7	31732116	31732116	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:31732116G>T	ENST00000342032.3	+	2	689	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	PPP1R17_ENST00000409146.3_Missense_Mutation_p.D21Y	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	21					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GGACAAGCTAGACCCTCGTTG	0.483																																					p.D21Y		Atlas-SNP	.											.	.	.	.	0			c.G61T						.						115.0	99.0	105.0					7																	31732116		2203	4300	6503	SO:0001583	missense	10842	exon2			AAGCTAGACCCTC	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.61G>T	chr7.hg19:g.31732116G>T	ENSP00000340125:p.Asp21Tyr	87.0	0.0		90.0	40.0	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	hg19	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626087	0.46840	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.40756	1.02;1.23	6.16	5.28	0.74379	.	0.272272	0.36972	N	0.002308	T	0.61160	0.2325	L	0.60455	1.87	0.43152	D	0.994925	D;D	0.89917	0.999;1.0	D;D	0.76575	0.958;0.988	T	0.65479	-0.6158	10	0.87932	D	0	-6.4603	15.0984	0.72253	0.0681:0.0:0.9319:0.0	.	21;21	B4DE58;O96001	.;PPR17_HUMAN	Y	21	ENSP00000340125:D21Y;ENSP00000386459:D21Y	ENSP00000340125:D21Y	D	+	1	0	C7orf16	31698641	1.000000	0.71417	0.599000	0.28851	0.356000	0.29392	3.904000	0.56325	1.612000	0.50221	0.650000	0.86243	GAC	.	.		0.483	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	
BMPER	168667	hgsc.bcm.edu	37	7	33976943	33976943	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:33976943T>C	ENST00000297161.2	+	4	636	c.262T>C	c.(262-264)Tcc>Ccc	p.S88P	BMPER_ENST00000426693.1_Missense_Mutation_p.S88P	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	88	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCCGTGCTGTCCCGAGACTG	0.488																																					p.S88P		Atlas-SNP	.											.	BMPER	131	.	0			c.T262C						.						124.0	114.0	117.0					7																	33976943		2203	4300	6503	SO:0001583	missense	168667	exon4			GTGCTGTCCCGAG		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.262T>C	chr7.hg19:g.33976943T>C	ENSP00000297161:p.Ser88Pro	106.0	0.0		61.0	25.0	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	hg19	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324998	0.24080	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64991	-0.13;-0.13	5.18	2.72	0.32119	von Willebrand factor, type C (2);	0.143668	0.48767	N	0.000172	T	0.47838	0.1467	L	0.38838	1.175	0.52099	D	0.999947	B	0.09022	0.002	B	0.08055	0.003	T	0.31641	-0.9936	10	0.45353	T	0.12	.	7.6924	0.28575	0.0:0.0739:0.1407:0.7854	.	88	Q8N8U9	BMPER_HUMAN	P	88	ENSP00000297161:S88P;ENSP00000393950:S88P	ENSP00000297161:S88P	S	+	1	0	BMPER	33943468	1.000000	0.71417	0.759000	0.31340	0.236000	0.25371	3.007000	0.49536	0.262000	0.21774	0.460000	0.39030	TCC	.	.		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
HERPUD2	64224	hgsc.bcm.edu	37	7	35733822	35733822	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:35733822T>A	ENST00000396081.1	-	1	923	c.119A>T	c.(118-120)cAt>cTt	p.H40L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.H40L|RP11-379H18.1_ENST00000605778.1_RNA	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	40	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GTTAGATAGATGCGTTTTTAG	0.473																																					p.H40L		Atlas-SNP	.											.	HERPUD2	47	.	0			c.A119T						.						192.0	190.0	190.0					7																	35733822		2203	4300	6503	SO:0001583	missense	64224	exon2			GATAGATGCGTTT	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.119A>T	chr7.hg19:g.35733822T>A	ENSP00000379390:p.His40Leu	73.0	0.0		59.0	33.0	NM_022373	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	hg19	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.462991	0.63513	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.72394	-0.65;-0.65;1.08;1.08;1.08	3.53	3.53	0.40419	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.39147	1.195	0.80722	D	1	D	0.60160	0.987	P	0.55749	0.783	T	0.69157	-0.5219	10	0.34782	T	0.22	-26.2328	12.0143	0.53305	0.0:0.0:0.0:1.0	.	40	Q9BSE4	HERP2_HUMAN	L	40	ENSP00000379390:H40L;ENSP00000310729:H40L;ENSP00000415475:H40L;ENSP00000391015:H40L;ENSP00000412895:H40L	ENSP00000310729:H40L	H	-	2	0	HERPUD2	35700347	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.938000	0.75904	1.829000	0.53265	0.383000	0.25322	CAT	.	.		0.473	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
ANLN	54443	hgsc.bcm.edu	37	7	36436005	36436005	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:36436005A>T	ENST00000265748.2	+	2	370	c.149A>T	c.(148-150)cAg>cTg	p.Q50L	ANLN_ENST00000396068.2_Missense_Mutation_p.Q50L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	50	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAAGTAACCAGCAGCCCCTC	0.438																																					p.Q50L		Atlas-SNP	.											.	ANLN	101	.	0			c.A149T						.						74.0	76.0	75.0					7																	36436005		2203	4300	6503	SO:0001583	missense	54443	exon2			GTAACCAGCAGCC	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.149A>T	chr7.hg19:g.36436005A>T	ENSP00000265748:p.Gln50Leu	187.0	0.0		143.0	69.0	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	hg19	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063648	0.55432	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865;ENST00000418118	T;T;T	0.48836	0.8;0.8;3.92	5.67	1.96	0.26148	.	0.476064	0.24520	N	0.037816	T	0.32734	0.0839	L	0.55834	1.745	0.48236	D	0.999616	B;B;B	0.24882	0.113;0.014;0.113	B;B;B	0.24006	0.05;0.009;0.05	T	0.19976	-1.0289	10	0.02654	T	1	-2.6482	5.8638	0.18762	0.7407:0.0:0.1354:0.1239	.	50;50;50	A8K5D9;Q9NQW6-2;Q9NQW6	.;.;ANLN_HUMAN	L	50;50;28;28	ENSP00000265748:Q50L;ENSP00000379380:Q50L;ENSP00000404979:Q28L	ENSP00000265748:Q50L	Q	+	2	0	ANLN	36402530	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	2.742000	0.47434	0.095000	0.17434	0.482000	0.46254	CAG	.	.		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
AMPH	273	hgsc.bcm.edu	37	7	38500915	38500915	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:38500915C>A	ENST00000356264.2	-	11	1200	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	AMPH_ENST00000325590.5_Missense_Mutation_p.V329F|AMPH_ENST00000428293.2_Missense_Mutation_p.V329F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	329					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATTTCTGGAACAAAGTTGTCC	0.512																																					p.V329F		Atlas-SNP	.											.	AMPH	157	.	0			c.G985T						.						187.0	183.0	184.0					7																	38500915		2203	4300	6503	SO:0001583	missense	273	exon11			CTGGAACAAAGTT		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.985G>T	chr7.hg19:g.38500915C>A	ENSP00000348602:p.Val329Phe	73.0	0.0		75.0	37.0	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	hg19	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.258517|4.258517	0.80246|0.80246	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.171581	.|0.39687	.|N	.|0.001287	T|T	0.65217|0.65217	0.2670|0.2670	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.74023	.|0.965;0.965;0.982	T|T	0.64398|0.64398	-0.6417|-0.6417	5|10	.|0.56958	.|D	.|0.05	-21.1308|-21.1308	19.9922|19.9922	0.97370|0.97370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|329;329;85	.|P49418-2;P49418;Q8NFL4	.|.;AMPH_HUMAN;.	F|F	79|329;329;329;99;332	.|ENSP00000317441:V329F;ENSP00000348602:V329F;ENSP00000390734:V329F	.|ENSP00000317441:V329F	C|V	-|-	2|1	0|0	AMPH|AMPH	38467440|38467440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.506000|3.506000	0.53364|0.53364	2.740000|2.740000	0.93945|0.93945	0.557000|0.557000	0.71058|0.71058	TGT|GTT	.	.		0.512	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
ADCY1	107	hgsc.bcm.edu	37	7	45632453	45632453	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:45632453G>T	ENST00000297323.7	+	2	757	c.735G>T	c.(733-735)caG>caT	p.Q245H	ADCY1_ENST00000432715.1_Missense_Mutation_p.Q20H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	245					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGTTCCTGCAGGCCCGGAGCT	0.592																																					p.Q245H		Atlas-SNP	.											.	ADCY1	187	.	0			c.G735T						.						142.0	127.0	132.0					7																	45632453		2203	4300	6503	SO:0001583	missense	107	exon2			CCTGCAGGCCCGG	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.735G>T	chr7.hg19:g.45632453G>T	ENSP00000297323:p.Gln245His	111.0	0.0		124.0	62.0	NM_021116	A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	hg19	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832750	0.71258	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.82167	-1.58;-1.29	5.07	2.25	0.28309	.	0.065196	0.64402	D	0.000006	T	0.81418	0.4818	L	0.34521	1.04	0.49483	D	0.999793	P;D	0.56521	0.915;0.976	B;P	0.56960	0.41;0.81	T	0.79284	-0.1867	10	0.87932	D	0	.	8.6293	0.33908	0.2597:0.0:0.7403:0.0	.	245;20	Q08828;C9J1J0	ADCY1_HUMAN;.	H	20;245;245	ENSP00000392721:Q20H;ENSP00000297323:Q245H	ENSP00000297323:Q245H	Q	+	3	2	ADCY1	45598978	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	3.148000	0.50647	0.158000	0.19367	0.484000	0.47621	CAG	.	.		0.592	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
ADCY1	107	hgsc.bcm.edu	37	7	45717819	45717819	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:45717819C>T	ENST00000297323.7	+	10	1877	c.1855C>T	c.(1855-1857)Ctg>Ttg	p.L619L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	619					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCCTCATCCTGGCTGCCTT	0.507																																					p.L619L		Atlas-SNP	.											.	ADCY1	187	.	0			c.C1855T						.						235.0	219.0	224.0					7																	45717819		2203	4300	6503	SO:0001819	synonymous_variant	107	exon10			CTCATCCTGGCTG	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1855C>T	chr7.hg19:g.45717819C>T		105.0	0.0		114.0	48.0	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	hg19	CCDS34631.1																																																																																			.	.		0.507	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
TNS3	64759	hgsc.bcm.edu	37	7	47408179	47408179	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:47408179T>A	ENST00000398879.1	-	17	2430	c.2064A>T	c.(2062-2064)ccA>ccT	p.P688P	TNS3_ENST00000355730.3_Silent_p.P448P|TNS3_ENST00000311160.9_Silent_p.P688P			Q68CZ2	TENS3_HUMAN	tensin 3	688					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGCGAGCCTGGGGAGGGGC	0.617																																					p.P688P		Atlas-SNP	.											.	TNS3	140	.	0			c.A2064T						.						142.0	162.0	156.0					7																	47408179		2048	4203	6251	SO:0001819	synonymous_variant	64759	exon17			CGAGCCTGGGGAG	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2064A>T	chr7.hg19:g.47408179T>A		57.0	0.0		38.0	13.0	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	hg19	CCDS5506.2																																																																																			.	.		0.617	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
PKD1L1	168507	hgsc.bcm.edu	37	7	47870899	47870899	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:47870899T>G	ENST00000289672.2	-	42	6439	c.6389A>C	c.(6388-6390)cAg>cCg	p.Q2130P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2130					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						CCACCAAGGCTGAAGGGCCCT	0.562																																					p.Q2130P		Atlas-SNP	.											.	PKD1L1	328	.	0			c.A6389C						.						93.0	83.0	86.0					7																	47870899		2203	4300	6503	SO:0001583	missense	168507	exon42			CAAGGCTGAAGGG	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.6389A>C	chr7.hg19:g.47870899T>G	ENSP00000289672:p.Gln2130Pro	125.0	0.0		118.0	50.0	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429461	0.25726	.	.	ENSG00000158683	ENST00000289672	T	0.17370	2.28	5.1	-10.2	0.00374	.	1.969070	0.02438	N	0.084314	T	0.06508	0.0167	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20605	-1.0270	10	0.23891	T	0.37	1.9044	4.1973	0.10450	0.165:0.1127:0.494:0.2283	.	2130	Q8TDX9	PK1L1_HUMAN	P	2130	ENSP00000289672:Q2130P	ENSP00000289672:Q2130P	Q	-	2	0	PKD1L1	47837424	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.028000	0.03589	-1.543000	0.01723	-0.445000	0.05633	CAG	.	.		0.562	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	hgsc.bcm.edu	37	7	47970705	47970705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:47970705T>A	ENST00000289672.2	-	6	783	c.733A>T	c.(733-735)Aga>Tga	p.R245*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	245					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						CCGTACCTTCTGGGAGAAGTG	0.552																																					p.R245X		Atlas-SNP	.											.	PKD1L1	328	.	0			c.A733T						.						44.0	40.0	42.0					7																	47970705		2203	4300	6503	SO:0001587	stop_gained	168507	exon6			ACCTTCTGGGAGA	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.733A>T	chr7.hg19:g.47970705T>A	ENSP00000289672:p.Arg245*	52.0	0.0		48.0	22.0	NM_138295	Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251848	0.80135	.	.	ENSG00000158683	ENST00000289672	.	.	.	3.06	1.91	0.25777	.	616.745000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	2.1978	4.9336	0.13930	0.0:0.1416:0.0:0.8584	.	.	.	.	X	245	.	ENSP00000289672:R245X	R	-	1	2	PKD1L1	47937230	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.112000	0.15479	0.580000	0.29522	-0.333000	0.08304	AGA	.	.		0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
HUS1	3364	hgsc.bcm.edu	37	7	48008897	48008897	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48008897C>A	ENST00000258774.5	-	6	582	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	HUS1_ENST00000432325.1_Missense_Mutation_p.D166Y	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	187					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				AATTCTCCATCTAGGTTTGCT	0.338								Direct reversal of damage;Other conserved DNA damage response genes			OREG0018063	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D187Y	Ovarian(103;466 1517 21788 34610 43890)	Atlas-SNP	.											.	HUS1	36	.	0			c.G559T						.						85.0	88.0	87.0					7																	48008897		2199	4298	6497	SO:0001583	missense	3364	exon6			CTCCATCTAGGTT	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.559G>T	chr7.hg19:g.48008897C>A	ENSP00000258774:p.Asp187Tyr	42.0	0.0	951	40.0	16.0	NM_004507	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	hg19	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717435	0.30413	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627	T;T;T	0.11930	2.73;2.73;2.73	5.19	2.79	0.32731	.	0.456966	0.23991	N	0.042579	T	0.10423	0.0255	L	0.34521	1.04	0.23215	N	0.998104	B	0.24882	0.113	B	0.30716	0.119	T	0.25950	-1.0117	10	0.44086	T	0.13	-15.226	5.4462	0.16537	0.1538:0.0887:0.0:0.7575	.	187	O60921	HUS1_HUMAN	Y	187;166;166	ENSP00000258774:D187Y;ENSP00000416588:D166Y;ENSP00000404855:D166Y	ENSP00000258774:D187Y	D	-	1	0	HUS1	47975422	1.000000	0.71417	0.213000	0.23690	0.925000	0.55904	4.861000	0.62969	0.366000	0.24427	-0.302000	0.09304	GAT	.	.		0.338	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507	
ABCA13	154664	hgsc.bcm.edu	37	7	48314790	48314790	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48314790G>T	ENST00000435803.1	+	17	5551	c.5527G>T	c.(5527-5529)Gtc>Ttc	p.V1843F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1843					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCCTGCAATGTCCATGGGCT	0.423																																					p.V1843F		Atlas-SNP	.											.	ABCA13	1192	.	0			c.G5527T						.						59.0	58.0	58.0					7																	48314790		1878	4112	5990	SO:0001583	missense	154664	exon17			TGCAATGTCCATG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5527G>T	chr7.hg19:g.48314790G>T	ENSP00000411096:p.Val1843Phe	84.0	0.0		66.0	27.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.118	0.780292	0.16120	.	.	ENSG00000179869	ENST00000435803	T	0.14766	2.48	5.79	-2.53	0.06326	.	1.193830	0.06290	N	0.698964	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	P	0.41265	0.744	B	0.39068	0.289	T	0.20739	-1.0266	9	.	.	.	.	0.2869	0.00252	0.2798:0.2014:0.2806:0.2382	.	1843	Q86UQ4	ABCAD_HUMAN	F	1843	ENSP00000411096:V1843F	.	V	+	1	0	ABCA13	48285336	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.169000	0.09911	-0.341000	0.08376	0.650000	0.86243	GTC	.	.		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	hgsc.bcm.edu	37	7	48412076	48412076	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48412076T>C	ENST00000435803.1	+	33	11139	c.11115T>C	c.(11113-11115)ttT>ttC	p.F3705F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3705					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATTAAGTTTTGTTAATCAGA	0.353																																					p.F3705F		Atlas-SNP	.											.	ABCA13	1192	.	0			c.T11115C						.						79.0	73.0	75.0					7																	48412076		1842	4080	5922	SO:0001819	synonymous_variant	154664	exon33			AAGTTTTGTTAAT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11115T>C	chr7.hg19:g.48412076T>C		48.0	0.0		53.0	21.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	hg19	CCDS47584.1																																																																																			.	.		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	hgsc.bcm.edu	37	7	48431709	48431709	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48431709A>T	ENST00000435803.1	+	38	11870	c.11846A>T	c.(11845-11847)aAg>aTg	p.K3949M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3949	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTGGACCAAGAAGGAGCTG	0.507																																					p.K3949M		Atlas-SNP	.											.	ABCA13	1192	.	0			c.A11846T						.						93.0	96.0	95.0					7																	48431709		2012	4170	6182	SO:0001583	missense	154664	exon38			GGACCAAGAAGGA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11846A>T	chr7.hg19:g.48431709A>T	ENSP00000411096:p.Lys3949Met	127.0	0.0		126.0	53.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218996	0.39201	.	.	ENSG00000179869	ENST00000435803	D	0.93811	-3.29	5.32	-3.82	0.04281	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.674750	0.04424	U	0.368140	D	0.93148	0.7818	M	0.78916	2.43	0.09310	N	1	P;P	0.51147	0.928;0.942	P;P	0.51193	0.662;0.656	D	0.83954	0.0318	10	0.72032	D	0.01	.	1.1717	0.01826	0.3879:0.2444:0.2412:0.1266	.	1651;3949	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	M	3949	ENSP00000411096:K3949M	ENSP00000411096:K3949M	K	+	2	0	ABCA13	48402255	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.044000	0.13992	-1.012000	0.03387	0.383000	0.25322	AAG	.	.		0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	hgsc.bcm.edu	37	7	48528889	48528889	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48528889C>A	ENST00000435803.1	+	48	13263	c.13239C>A	c.(13237-13239)aaC>aaA	p.N4413K	ABCA13_ENST00000544596.1_Missense_Mutation_p.N143K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4413					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCATCTAAACAACCTTATTT	0.358																																					p.N4413K		Atlas-SNP	.											.	ABCA13	1192	.	0			c.C13239A						.						95.0	87.0	90.0					7																	48528889		1870	4092	5962	SO:0001583	missense	154664	exon48			TCTAAACAACCTT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13239C>A	chr7.hg19:g.48528889C>A	ENSP00000411096:p.Asn4413Lys	205.0	0.0		169.0	62.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839513	0.71488	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87887	-2.31;-2.31;-2.31	5.43	4.54	0.55810	.	0.114530	0.38663	N	0.001605	D	0.93044	0.7786	M	0.88775	2.98	0.40615	D	0.981716	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.994;0.999	D	0.93256	0.6639	10	0.87932	D	0	.	7.4333	0.27141	0.0:0.8363:0.0:0.1637	.	143;2115;4413	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	K	4413;186;143	ENSP00000411096:N4413K;ENSP00000391042:N186K;ENSP00000442634:N143K	ENSP00000391042:N186K	N	+	3	2	ABCA13	48499435	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.629000	0.37071	2.542000	0.85734	0.650000	0.86243	AAC	.	.		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	hgsc.bcm.edu	37	7	48559635	48559635	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:48559635A>T	ENST00000435803.1	+	53	13821		c.e53-1		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCACTGTGCAGAATTTACAG	0.338																																					.		Atlas-SNP	.											.	ABCA13	1192	.	0			c.13798-2A>T						.						80.0	70.0	73.0					7																	48559635		1810	4065	5875	SO:0001630	splice_region_variant	154664	exon53			CTGTGCAGAATTT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13798-1A>T	chr7.hg19:g.48559635A>T		62.0	0.0		39.0	10.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252653	0.59212	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596;ENST00000435451	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0755	0.59085	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48530181	1.000000	0.71417	0.976000	0.42696	0.773000	0.43773	6.374000	0.73132	2.029000	0.59856	0.528000	0.53228	.	.	.		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron
IKZF1	10320	hgsc.bcm.edu	37	7	50450343	50450343	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:50450343A>T	ENST00000331340.3	+	5	682	c.527A>T	c.(526-528)cAc>cTc	p.H176L	IKZF1_ENST00000343574.5_Missense_Mutation_p.H89L|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.H176L|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.H176L|IKZF1_ENST00000357364.4_Missense_Mutation_p.H176L|IKZF1_ENST00000439701.1_Missense_Mutation_p.H176L|IKZF1_ENST00000438033.1_Missense_Mutation_p.H89L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	176					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTCAAATGCCACCTCTGCAAC	0.647			"""D,T"""	BCL6	"""ALL, DLBCL"""																																p.H176L		Atlas-SNP	.		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1	613	.	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)	c.A527T						.						26.0	32.0	30.0					7																	50450343		2153	4269	6422	SO:0001583	missense	10320	exon5			AATGCCACCTCTG	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.527A>T	chr7.hg19:g.50450343A>T	ENSP00000331614:p.His176Leu	17.0	0.0		21.0	14.0	NM_006060	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	hg19		.	.	.	.	.	.	.	.	.	.	A	20.5	4.001161	0.74818	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000440768;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	.	.	.	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.982	D;D;D	0.75484	0.977;0.986;0.967	T	0.31752	-0.9932	9	0.54805	T	0.06	-1.4571	16.4504	0.83984	1.0:0.0:0.0:0.0	.	89;176;176	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	L	89;176;176;176;176;89;176	ENSP00000342750:H89L;ENSP00000352123:H176L;ENSP00000401507:H176L;ENSP00000349928:H176L;ENSP00000331614:H176L;ENSP00000396554:H89L;ENSP00000413025:H176L	ENSP00000331614:H176L	H	+	2	0	IKZF1	50417837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.148000	0.71788	2.288000	0.76882	0.533000	0.62120	CAC	.	.		0.647	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
COBL	23242	hgsc.bcm.edu	37	7	51095619	51095619	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:51095619T>G	ENST00000265136.7	-	10	3339	c.3174A>C	c.(3172-3174)acA>acC	p.T1058T	COBL_ENST00000395542.2_Silent_p.T1140T	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1058					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTGGCTTTCTGTGCCAGACC	0.562																																					p.T1058T	NSCLC(189;2119 2138 12223 30818 34679)	Atlas-SNP	.											.	COBL	167	.	0			c.A3174C						.						98.0	98.0	98.0					7																	51095619		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon10			GCTTTCTGTGCCA	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3174A>C	chr7.hg19:g.51095619T>G		174.0	0.0		138.0	66.0	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	hg19	CCDS34637.1																																																																																			.	.		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
ZNF727	442319	hgsc.bcm.edu	37	7	63529267	63529267	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:63529267A>T	ENST00000550760.3	+	2	182		c.e2-1		RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TTTGTTTTTCAGCGAGTGCTA	0.403																																					.		Atlas-SNP	.											.	ZNF727	35	.	0			c.4-2A>T						.						122.0	98.0	106.0					7																	63529267		692	1591	2283	SO:0001630	splice_region_variant	442319	exon2			TTTTTCAGCGAGT			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.4-1A>T	chr7.hg19:g.63529267A>T		59.0	0.0		49.0	23.0	NM_001159522		Splice_Site	SNP	ENST00000550760.3	hg19	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.318580	0.01320	.	.	ENSG00000257482	ENST00000550760	.	.	.	0.149	-0.298	0.12814	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8859	0.09097	0.6821:0.0:0.3179:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF727	63166702	0.045000	0.20229	0.010000	0.14722	0.010000	0.07245	0.790000	0.26900	-1.250000	0.02497	-1.273000	0.01405	.	.	.		0.403	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	Intron
ZNF727	442319	hgsc.bcm.edu	37	7	63538686	63538686	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:63538686A>T	ENST00000550760.3	+	4	1438	c.1259A>T	c.(1258-1260)gAa>gTa	p.E420V	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						ATTCATATGGAAGTGAGACCT	0.393																																					p.E420V		Atlas-SNP	.											.	ZNF727	35	.	0			c.A1259T						.						30.0	28.0	29.0					7																	63538686		692	1591	2283	SO:0001583	missense	442319	exon4			ATATGGAAGTGAG			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1259A>T	chr7.hg19:g.63538686A>T	ENSP00000447987:p.Glu420Val	132.0	0.0		130.0	66.0	NM_001159522		Missense_Mutation	SNP	ENST00000550760.3	hg19	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	A	7.451	0.642739	0.14451	.	.	ENSG00000257482	ENST00000550760	T	0.26518	1.73	0.926	-1.64	0.08318	Zinc finger, C2H2 (1);	.	.	.	.	T	0.14013	0.0339	L	0.35341	1.055	0.21256	N	0.999744	P	0.37176	0.586	B	0.33196	0.159	T	0.16660	-1.0395	8	.	.	.	.	4.557	0.12141	0.4801:0.0:0.5199:0.0	.	420	A8MUV8	ZN727_HUMAN	V	420	ENSP00000447987:E420V	.	E	+	2	0	ZNF727	63176121	0.189000	0.23263	0.039000	0.18376	0.032000	0.12392	1.030000	0.30153	-0.517000	0.06461	-0.516000	0.04426	GAA	.	.		0.393	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
ZNF736	728927	hgsc.bcm.edu	37	7	63808697	63808697	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:63808697A>G	ENST00000423484.2	+	4	578	c.456A>G	c.(454-456)agA>agG	p.R152R	ZNF736_ENST00000355095.4_Silent_p.R152R			B4DX44	ZN736_HUMAN	zinc finger protein 736	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						AATGTGGCAGAGGTTTTCAGT	0.398																																					p.R152R		Atlas-SNP	.											.	ZNF736	33	.	0			c.A456G						.						151.0	123.0	132.0					7																	63808697		692	1591	2283	SO:0001819	synonymous_variant	728927	exon5			TGGCAGAGGTTTT		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.456A>G	chr7.hg19:g.63808697A>G		39.0	0.0		37.0	18.0	NM_001170905		Silent	SNP	ENST00000423484.2	hg19	CCDS55114.1																																																																																			.	.		0.398	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905	
WBSCR17	64409	hgsc.bcm.edu	37	7	70885934	70885934	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:70885934C>T	ENST00000333538.5	+	5	1439	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	269					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAACCGGAAGCGTGTGATCCT	0.542																																					p.R269C		Atlas-SNP	.											WBSCR17,right_upper_lobe,carcinoma,0,1	WBSCR17	208	.	0			c.C805T						.						201.0	187.0	192.0					7																	70885934		2203	4300	6503	SO:0001583	missense	64409	exon5			CGGAAGCGTGTGA	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.805C>T	chr7.hg19:g.70885934C>T	ENSP00000329654:p.Arg269Cys	97.0	0.0		98.0	54.0	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	hg19	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598994	0.66332	.	.	ENSG00000185274	ENST00000333538	T	0.59083	0.29	5.45	3.4	0.38934	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83940	0.0311	10	0.51188	T	0.08	.	14.4083	0.67099	0.319:0.681:0.0:0.0	.	269	Q6IS24	GLTL3_HUMAN	C	269	ENSP00000329654:R269C	ENSP00000329654:R269C	R	+	1	0	WBSCR17	70523870	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	2.977000	0.49297	1.258000	0.44101	0.650000	0.86243	CGT	.	.		0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
WBSCR17	64409	hgsc.bcm.edu	37	7	71036347	71036347	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:71036347T>G	ENST00000333538.5	+	6	1674	c.1040T>G	c.(1039-1041)aTg>aGg	p.M347R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	347	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATCCTGGCATGGATGTATAC	0.507																																					p.M347R		Atlas-SNP	.											.	WBSCR17	208	.	0			c.T1040G						.						208.0	198.0	201.0					7																	71036347		2203	4300	6503	SO:0001583	missense	64409	exon6			CTGGCATGGATGT	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1040T>G	chr7.hg19:g.71036347T>G	ENSP00000329654:p.Met347Arg	99.0	0.0		81.0	41.0	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	hg19	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806366	0.70682	.	.	ENSG00000185274	ENST00000333538	T	0.60171	0.21	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	H	0.98199	4.17	0.80722	D	1	P	0.36027	0.533	B	0.39379	0.298	T	0.81822	-0.0756	10	0.87932	D	0	.	12.2752	0.54730	0.0:0.0:0.0:1.0	.	347	Q6IS24	GLTL3_HUMAN	R	347	ENSP00000329654:M347R	ENSP00000329654:M347R	M	+	2	0	WBSCR17	70674283	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	6.868000	0.75516	2.124000	0.65301	0.519000	0.50382	ATG	.	.		0.507	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
WBSCR27	155368	hgsc.bcm.edu	37	7	73254767	73254767	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:73254767T>A	ENST00000297873.4	-	4	414	c.365A>T	c.(364-366)cAg>cTg	p.Q122L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	122										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAGAGGCTCCTGGCCCAGGGT	0.662																																					p.Q122L		Atlas-SNP	.											.	WBSCR27	21	.	0			c.A365T						.						10.0	9.0	9.0					7																	73254767		2130	4186	6316	SO:0001583	missense	155368	exon4			GGCTCCTGGCCCA	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.365A>T	chr7.hg19:g.73254767T>A	ENSP00000297873:p.Gln122Leu	111.0	0.0		83.0	37.0	NM_152559		Missense_Mutation	SNP	ENST00000297873.4	hg19	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712654	0.68730	.	.	ENSG00000165171	ENST00000297873	T	0.32753	1.44	4.69	3.44	0.39384	.	0.124764	0.53938	D	0.000053	T	0.27384	0.0672	N	0.15975	0.35	0.42111	D	0.99138	D	0.58620	0.983	P	0.57324	0.818	T	0.02512	-1.1148	10	0.30078	T	0.28	-23.927	8.6762	0.34181	0.0:0.0:0.1911:0.8089	.	122	Q8N6F8	WBS27_HUMAN	L	122	ENSP00000297873:Q122L	ENSP00000297873:Q122L	Q	-	2	0	WBSCR27	72892703	0.974000	0.33945	1.000000	0.80357	0.950000	0.60333	0.027000	0.13621	1.846000	0.53633	0.379000	0.24179	CAG	.	.		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	
HIP1	3092	hgsc.bcm.edu	37	7	75192502	75192502	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:75192502T>A	ENST00000336926.6	-	10	895	c.869A>T	c.(868-870)cAg>cTg	p.Q290L	HIP1_ENST00000434438.2_Missense_Mutation_p.Q290L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	290					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCAGGCAGCTGGGGGATCTG	0.592			T	PDGFRB	CMML																																p.Q290L		Atlas-SNP	.		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	HIP1	91	.	0			c.A869T						.						81.0	76.0	77.0					7																	75192502		2203	4300	6503	SO:0001583	missense	3092	exon10			GGCAGCTGGGGGA	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.869A>T	chr7.hg19:g.75192502T>A	ENSP00000336747:p.Gln290Leu	74.0	0.0		72.0	31.0	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	hg19	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838166	0.50951	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.30448	1.53;1.53	5.2	5.2	0.72013	ANTH (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.17723	0.515	0.58432	D	0.999999	B;B	0.23249	0.082;0.009	B;B	0.32090	0.14;0.034	T	0.06698	-1.0812	10	0.34782	T	0.22	-30.3427	14.2615	0.66088	0.0:0.0:0.0:1.0	.	290;290	E7ES17;O00291	.;HIP1_HUMAN	L	290	ENSP00000336747:Q290L;ENSP00000410300:Q290L	ENSP00000336747:Q290L	Q	-	2	0	HIP1	75030438	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.626000	0.83164	1.958000	0.56883	0.528000	0.53228	CAG	.	.		0.592	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
PHTF2	57157	hgsc.bcm.edu	37	7	77567113	77567113	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:77567113A>T	ENST00000248550.7	+	12	1501	c.1425A>T	c.(1423-1425)gcA>gcT	p.A475A	PHTF2_ENST00000416283.2_Silent_p.A441A|PHTF2_ENST00000275575.7_Silent_p.A437A|PHTF2_ENST00000422959.2_Silent_p.A441A|PHTF2_ENST00000424760.1_Silent_p.A437A|PHTF2_ENST00000307305.8_Silent_p.A437A|PHTF2_ENST00000454592.1_3'UTR			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTAAGAAAGCAGACATGTCTG	0.318																																					p.A441A		Atlas-SNP	.											.	PHTF2	104	.	0			c.A1323T						.						60.0	57.0	58.0					7																	77567113		1812	4074	5886	SO:0001819	synonymous_variant	57157	exon11			GAAAGCAGACATG	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1425A>T	chr7.hg19:g.77567113A>T		289.0	0.0		276.0	119.0	NM_001127357	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	ENST00000248550.7	hg19																																																																																				.	.		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
SEMA3C	10512	hgsc.bcm.edu	37	7	80457899	80457899	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:80457899A>G	ENST00000265361.3	-	3	826		c.e3+1		SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGATAAACTTACACTCAAAGC	0.289																																					.		Atlas-SNP	.											.	SEMA3C	106	.	0			c.264+2T>C						.						108.0	108.0	108.0					7																	80457899		2203	4300	6503	SO:0001630	splice_region_variant	10512	exon4			AAACTTACACTCA	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.264+1T>C	chr7.hg19:g.80457899A>G		130.0	0.0		127.0	49.0	NM_006379	B4DRL8	Splice_Site	SNP	ENST00000265361.3	hg19	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228735	0.79576	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8155	0.78597	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3C	80295835	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.471000	0.90403	2.132000	0.65825	0.528000	0.53228	.	.	.		0.289	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Intron
PCLO	27445	hgsc.bcm.edu	37	7	82764680	82764680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:82764680A>T	ENST00000333891.9	-	3	2523	c.2186T>A	c.(2185-2187)tTg>tAg	p.L729*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.L729*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L729S(2)|p.L675S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTTGGACAAAGAATCTGC	0.537																																					p.L729X		Atlas-SNP	.											Q9Y6V0-3,NS,carcinoma,0,3	PCLO	1506	.	3	Substitution - Missense(3)	lung(3)	c.T2186A						.						114.0	110.0	111.0					7																	82764680		1921	4121	6042	SO:0001587	stop_gained	27445	exon3			TTGGACAAAGAAT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2186T>A	chr7.hg19:g.82764680A>T	ENSP00000334319:p.Leu729*	103.0	0.0		90.0	36.0	NM_014510		Nonsense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	38	7.233882	0.98154	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.83	-1.87	0.07737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5503	0.33447	0.4343:0.098:0.4677:0.0	.	.	.	.	X	675;729;729	.	ENSP00000334319:L729X	L	-	2	0	PCLO	82602616	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.304000	0.08199	-0.231000	0.09825	-0.898000	0.02899	TTG	.	.		0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	hgsc.bcm.edu	37	7	82764790	82764790	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:82764790C>A	ENST00000333891.9	-	3	2413	c.2076G>T	c.(2074-2076)caG>caT	p.Q692H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q692H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAGAGATCCTGTTTTGGTG	0.532																																					p.Q692H		Atlas-SNP	.											.	PCLO	1506	.	0			c.G2076T						.						183.0	188.0	186.0					7																	82764790		2077	4213	6290	SO:0001583	missense	27445	exon3			GAGATCCTGTTTT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2076G>T	chr7.hg19:g.82764790C>A	ENSP00000334319:p.Gln692His	114.0	0.0		95.0	45.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	1.942	-0.443290	0.04604	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.29;2.28	5.7	0.199	0.15175	.	.	.	.	.	T	0.13200	0.0320	L	0.29908	0.895	0.80722	D	1	P;P	0.41569	0.755;0.755	B;P	0.44946	0.346;0.465	T	0.14090	-1.0485	9	0.87932	D	0	.	4.2422	0.10654	0.2408:0.3196:0.0:0.4395	.	692;692	Q9Y6V0-5;Q9Y6V0-6	.;.	H	638;692;692	ENSP00000334319:Q692H;ENSP00000388393:Q692H	ENSP00000334319:Q692H	Q	-	3	2	PCLO	82602726	0.976000	0.34144	0.975000	0.42487	0.091000	0.18340	0.323000	0.19593	0.344000	0.23847	0.591000	0.81541	CAG	.	.		0.532	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
KIAA1324L	222223	hgsc.bcm.edu	37	7	86571334	86571334	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:86571334A>G	ENST00000450689.2	-	5	926	c.741T>C	c.(739-741)tcT>tcC	p.S247S	KIAA1324L_ENST00000444627.1_Splice_Site_p.S247S|KIAA1324L_ENST00000416314.1_Splice_Site_p.S80S|KIAA1324L_ENST00000297222.6_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	247						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGAGACTTACAGAATGAGAGC	0.403																																					p.S247S		Atlas-SNP	.											.	KIAA1324L	225	.	0			c.T741C						.						180.0	160.0	166.0					7																	86571334		692	1591	2283	SO:0001630	splice_region_variant	222223	exon5			ACTTACAGAATGA	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.741+1T>C	chr7.hg19:g.86571334A>G		106.0	0.0		85.0	34.0	NM_001142749	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	hg19	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.051916	0.36181	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.94	-1.25	0.09405	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40813	-0.9543	4	.	.	.	.	5.8694	0.18795	0.4059:0.3705:0.2236:0.0	.	.	.	.	R	208	.	.	C	-	1	0	KIAA1324L	86409270	0.976000	0.34144	0.998000	0.56505	0.974000	0.67602	0.236000	0.17967	-0.109000	0.12044	-0.263000	0.10527	TGT	.	.		0.403	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	Silent
CFAP69	79846	hgsc.bcm.edu	37	7	89917620	89917620	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:89917620G>T	ENST00000389297.4	+	15	1980	c.1729G>T	c.(1729-1731)Ggc>Tgc	p.G577C	C7orf63_ENST00000497910.1_Missense_Mutation_p.G559C|C7orf63_ENST00000316089.8_Missense_Mutation_p.G577C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		577										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GTTACAGAGTGGCTTAGGCTA	0.348																																					p.G577C		Atlas-SNP	.											.	C7orf63	158	.	0			c.G1729T						.						134.0	126.0	129.0					7																	89917620		1852	4101	5953	SO:0001583	missense	79846	exon15			CAGAGTGGCTTAG																												ENST00000389297.4:c.1729G>T	chr7.hg19:g.89917620G>T	ENSP00000373948:p.Gly577Cys	116.0	0.0		94.0	34.0	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	hg19	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035264	0.75617	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.26957	2.35;2.35;2.35;1.7;1.78	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.78801	2.425	0.52501	D	0.99995	D;D;D	0.76494	0.996;0.999;0.997	D;D;D	0.70016	0.967;0.958;0.91	T	0.57388	-0.7820	10	0.72032	D	0.01	-8.5498	19.6473	0.95784	0.0:0.0:1.0:0.0	.	559;577;577	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	C	577;577;559;460;160	ENSP00000373948:G577C;ENSP00000321753:G577C;ENSP00000419549:G559C;ENSP00000392365:G460C;ENSP00000391571:G160C	ENSP00000321753:G577C	G	+	1	0	C7orf63	89755556	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.515000	0.81761	2.650000	0.89964	0.591000	0.81541	GGC	.	.		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CFAP69	79846	hgsc.bcm.edu	37	7	89936396	89936396	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:89936396A>G	ENST00000389297.4	+	20	2698	c.2447A>G	c.(2446-2448)cAa>cGa	p.Q816R	C7orf63_ENST00000497910.1_Missense_Mutation_p.Q798R|C7orf63_ENST00000316089.8_Missense_Mutation_p.Q770R	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		816										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAATGAACAAAAAGTATAT	0.358																																					p.Q816R		Atlas-SNP	.											.	C7orf63	158	.	0			c.A2447G						.						53.0	50.0	51.0					7																	89936396		1860	4098	5958	SO:0001583	missense	79846	exon20			ATGAACAAAAAGT																												ENST00000389297.4:c.2447A>G	chr7.hg19:g.89936396A>G	ENSP00000373948:p.Gln816Arg	133.0	0.0		135.0	54.0	NM_001039706	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	hg19	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630418	0.46944	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.23552	2.51;2.48;2.51;1.9	5.54	1.69	0.24217	.	0.451501	0.23300	N	0.049695	T	0.18800	0.0451	L	0.53729	1.69	0.28038	N	0.933883	B;B	0.11235	0.004;0.001	B;B	0.14023	0.01;0.003	T	0.18713	-1.0328	10	0.21014	T	0.42	-6.4052	4.2621	0.10745	0.6774:0.1297:0.0687:0.1242	.	798;816	A5D8W1-5;A5D8W1	.;CG063_HUMAN	R	816;770;798;353	ENSP00000373948:Q816R;ENSP00000321753:Q770R;ENSP00000419549:Q798R;ENSP00000391571:Q353R	ENSP00000321753:Q770R	Q	+	2	0	C7orf63	89774332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.050000	0.49877	0.326000	0.23384	0.482000	0.46254	CAA	.	.		0.358	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
AKAP9	10142	hgsc.bcm.edu	37	7	91724335	91724335	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:91724335A>T	ENST00000359028.2	+	40	9815		c.e40-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCTGACTTAGGTTGGAAGT	0.348			T	BRAF	papillary thyroid																																.		Atlas-SNP	.		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788	.	0			c.9579-2A>T						.						57.0	58.0	57.0					7																	91724335		2203	4300	6503	SO:0001630	splice_region_variant	10142	exon40			TGACTTAGGTTGG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9591-1A>T	chr7.hg19:g.91724335A>T		85.0	0.0		60.0	29.0	NM_005751	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	hg19		.	.	.	.	.	.	.	.	.	.	A	16.14	3.039940	0.55003	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6715	0.77279	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91562271	1.000000	0.71417	0.998000	0.56505	0.700000	0.40528	7.144000	0.77357	2.243000	0.73865	0.472000	0.43445	.	.	.		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron
LRRD1	401387	hgsc.bcm.edu	37	7	91792827	91792827	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:91792827A>C	ENST00000458448.1	-	2	1890	c.1690T>G	c.(1690-1692)Tgc>Ggc	p.C564G	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000454089.2_5'UTR|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.C564G			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	564					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						TTATTACAGCATAAAATAAGT	0.289																																					p.C564G		Atlas-SNP	.											.	LRRD1	35	.	0			c.T1690G						.						27.0	21.0	22.0					7																	91792827		692	1577	2269	SO:0001583	missense	401387	exon1			TACAGCATAAAAT	BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.1690T>G	chr7.hg19:g.91792827A>C	ENSP00000405987:p.Cys564Gly	200.0	0.0		177.0	79.0	NM_001161528	B7ZMM9|Q49AT9	Missense_Mutation	SNP	ENST00000458448.1	hg19	CCDS55124.1	.	.	.	.	.	.	.	.	.	.	A	4.242	0.043955	0.08196	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.54866	0.55;0.55	5.36	1.43	0.22495	.	.	.	.	.	T	0.16257	0.0391	N	0.01656	-0.775	0.38531	D	0.948989	B	0.33777	0.425	B	0.28385	0.089	T	0.06643	-1.0815	9	0.24483	T	0.36	.	0.2038	0.00148	0.2948:0.1687:0.1647:0.3718	.	564	A4D1F6	LRRD1_HUMAN	G	564	ENSP00000405987:C564G;ENSP00000411568:C564G	ENSP00000411568:C564G	C	-	1	0	LRRD1	91630763	0.033000	0.19621	0.826000	0.32828	0.975000	0.68041	0.129000	0.15830	0.821000	0.34540	0.477000	0.44152	TGC	.	.		0.289	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342027.2	NM_001045475	
LRRD1	401387	hgsc.bcm.edu	37	7	91794336	91794336	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:91794336T>A	ENST00000458448.1	-	2	381	c.181A>T	c.(181-183)Aga>Tga	p.R61*	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000454089.2_5'UTR|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000430130.2_Nonsense_Mutation_p.R61*			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	61					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						GTATTCTGTCTAGGATGTGTT	0.348																																					p.R61X		Atlas-SNP	.											.	LRRD1	35	.	0			c.A181T						.						135.0	114.0	120.0					7																	91794336		692	1591	2283	SO:0001587	stop_gained	401387	exon1			TCTGTCTAGGATG	BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.181A>T	chr7.hg19:g.91794336T>A	ENSP00000405987:p.Arg61*	91.0	0.0		76.0	31.0	NM_001161528	B7ZMM9|Q49AT9	Nonsense_Mutation	SNP	ENST00000458448.1	hg19	CCDS55124.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.069799	0.36566	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	.	.	.	5.41	-7.08	0.01558	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.8054	0.13317	0.1165:0.4765:0.2416:0.1654	.	.	.	.	X	61	.	ENSP00000411568:R61X	R	-	1	2	LRRD1	91632272	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.087000	0.03383	-0.795000	0.04462	-0.417000	0.06048	AGA	.	.		0.348	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342027.2	NM_001045475	
RBM48	84060	hgsc.bcm.edu	37	7	92158171	92158171	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:92158171A>T	ENST00000265732.5	+	1	85	c.44A>T	c.(43-45)cAc>cTc	p.H15L	PEX1_ENST00000248633.4_5'Flank|RBM48_ENST00000481551.1_Missense_Mutation_p.H15L|PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000438045.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	15						nucleus (GO:0005634)	RNA binding (GO:0003723)										TTTGATCACCACGTCCAGAGG	0.557																																					p.H15L		Atlas-SNP	.											.	.	.	.	0			c.A44T						.						82.0	85.0	84.0					7																	92158171		1995	4145	6140	SO:0001583	missense	84060	exon1			ATCACCACGTCCA	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.44A>T	chr7.hg19:g.92158171A>T	ENSP00000265732:p.His15Leu	131.0	0.0		108.0	50.0	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	hg19	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543717	0.86022	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.83768	0.0218	9	0.87932	D	0	-13.9785	14.7391	0.69440	1.0:0.0:0.0:0.0	.	15;15;15	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	L	17;15;15;15	.	ENSP00000265732:H15L	H	+	2	0	C7orf64	91996107	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.278000	0.78587	2.127000	0.65507	0.459000	0.35465	CAC	.	.		0.557	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
SAMD9L	219285	hgsc.bcm.edu	37	7	92763730	92763730	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:92763730T>C	ENST00000318238.4	-	5	2771	c.1555A>G	c.(1555-1557)Aga>Gga	p.R519G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R519G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R519G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	519					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTCTTTCTCTCTGCCATAAA	0.368																																					p.R519G		Atlas-SNP	.											.	SAMD9L	227	.	0			c.A1555G						.						70.0	75.0	73.0					7																	92763730		2203	4300	6503	SO:0001583	missense	219285	exon5			TTTCTCTCTGCCA	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1555A>G	chr7.hg19:g.92763730T>C	ENSP00000326247:p.Arg519Gly	65.0	0.0		55.0	25.0	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	hg19	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570468	0.45798	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13538	2.58;2.58;2.58	4.59	3.43	0.39272	.	0.376106	0.22643	N	0.057437	T	0.18551	0.0445	M	0.61703	1.905	0.33872	D	0.635011	P	0.48016	0.904	P	0.47573	0.55	T	0.25572	-1.0128	10	0.66056	D	0.02	-12.3165	6.4444	0.21867	0.0:0.0891:0.2039:0.7069	.	519	Q8IVG5	SAM9L_HUMAN	G	519	ENSP00000326247:R519G;ENSP00000405760:R519G;ENSP00000408796:R519G	ENSP00000326247:R519G	R	-	1	2	SAMD9L	92601666	0.700000	0.27796	0.981000	0.43875	0.760000	0.43138	3.368000	0.52357	0.788000	0.33755	0.377000	0.23210	AGA	.	.		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
PON3	5446	hgsc.bcm.edu	37	7	95023973	95023973	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:95023973T>A	ENST00000265627.5	-	2	138	c.128A>T	c.(127-129)cAc>cTc	p.H43L	PON1_ENST00000542556.1_Missense_Mutation_p.H43L|PON3_ENST00000427422.1_Missense_Mutation_p.H43L|PON3_ENST00000475439.1_5'UTR|PON3_ENST00000451904.1_Missense_Mutation_p.H43L	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	43					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTCAATAAGGTGGCAGTTTTC	0.478																																					p.H43L		Atlas-SNP	.											.	PON3	59	.	0			c.A128T						.						168.0	132.0	144.0					7																	95023973		2203	4300	6503	SO:0001583	missense	5446	exon2			ATAAGGTGGCAGT	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.128A>T	chr7.hg19:g.95023973T>A	ENSP00000265627:p.His43Leu	109.0	0.0		81.0	44.0	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	hg19	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	5.906	0.351256	0.11182	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.38722	1.12;1.12;1.12	4.85	-5.46	0.02608	Six-bladed beta-propeller, TolB-like (1);	0.754074	0.13171	N	0.408311	T	0.35158	0.0922	M	0.76002	2.32	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.10450	0.003;0.005;0.004	T	0.33650	-0.9860	10	0.52906	T	0.07	0.6507	6.4728	0.22018	0.1199:0.3881:0.0:0.492	.	43;43;43	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	L	43	ENSP00000444854:H43L;ENSP00000265627:H43L;ENSP00000413276:H43L	ENSP00000444854:H43L	H	-	2	0	PON1;PON3	94861909	0.880000	0.30214	0.036000	0.18154	0.002000	0.02628	-0.259000	0.08721	-1.124000	0.02936	-2.128000	0.00344	CAC	.	.		0.478	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
ARPC1A	10552	hgsc.bcm.edu	37	7	98946489	98946489	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:98946489A>G	ENST00000262942.5	+	5	531	c.407A>G	c.(406-408)cAc>cGc	p.H136R	ARPC1A_ENST00000432884.2_Missense_Mutation_p.H89R	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	136					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GTGAGCAAGCACATTAAAAAG	0.463																																					p.H136R		Atlas-SNP	.											.	ARPC1A	38	.	0			c.A407G						.						135.0	115.0	122.0					7																	98946489		2203	4300	6503	SO:0001583	missense	10552	exon5			GCAAGCACATTAA	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.407A>G	chr7.hg19:g.98946489A>G	ENSP00000262942:p.His136Arg	155.0	0.0		158.0	84.0	NM_006409	A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	hg19	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555892	0.65425	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.59224	0.28;0.28	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.93420	3.415	0.80722	D	1	P;D	0.61697	0.63;0.99	B;D	0.68765	0.401;0.96	D	0.84727	0.0743	10	0.44086	T	0.13	.	15.5153	0.75818	1.0:0.0:0.0:0.0	.	131;136	Q53GB6;Q92747	.;ARC1A_HUMAN	R	89;136	ENSP00000408578:H89R;ENSP00000262942:H136R	ENSP00000262942:H136R	H	+	2	0	ARPC1A	98784425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.307000	0.96226	2.137000	0.66172	0.482000	0.46254	CAC	.	.		0.463	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409	
ZNF394	84124	hgsc.bcm.edu	37	7	99097607	99097607	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:99097607A>G	ENST00000337673.6	-	1	313	c.110T>C	c.(109-111)tTg>tCg	p.L37S	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.L37S|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	37					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTTCACGGGCAAAAGTCCGTC	0.647																																					p.L37S	Ovarian(24;589 697 9939 12704 40742)	Atlas-SNP	.											.	ZNF394	48	.	0			c.T110C						.						51.0	53.0	52.0					7																	99097607		2203	4300	6503	SO:0001583	missense	84124	exon1			ACGGGCAAAAGTC	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.110T>C	chr7.hg19:g.99097607A>G	ENSP00000337363:p.Leu37Ser	25.0	0.0		33.0	15.0	NM_032164	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	hg19	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442901	0.43326	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.07567	3.18;3.65	4.04	1.58	0.23477	.	0.740871	0.11465	N	0.561338	T	0.06050	0.0157	N	0.14661	0.345	0.09310	N	1	P;P	0.48911	0.845;0.917	B;B	0.43478	0.421;0.421	T	0.36986	-0.9725	10	0.56958	D	0.05	.	8.3543	0.32321	0.5823:0.4177:0.0:0.0	.	37;37	Q05DA6;Q53GI3	.;ZN394_HUMAN	S	37	ENSP00000337363:L37S;ENSP00000409565:L37S	ENSP00000337363:L37S	L	-	2	0	ZNF394	98935543	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.580000	0.23803	0.341000	0.23771	0.459000	0.35465	TTG	.	.		0.647	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164	
NYAP1	222950	hgsc.bcm.edu	37	7	100086259	100086259	+	Silent	SNP	A	A	T	rs140403396	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:100086259A>T	ENST00000300179.2	+	4	1074	c.915A>T	c.(913-915)tcA>tcT	p.S305S	NYAP1_ENST00000454988.1_Silent_p.S248S|NYAP1_ENST00000423930.1_Silent_p.S305S	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	305	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCCCAGCTTCAGCCCTCCCGA	0.692																																					p.S305S		Atlas-SNP	.											.	.	.	.	0			c.A915T						.						48.0	51.0	50.0					7																	100086259		2203	4299	6502	SO:0001819	synonymous_variant	222950	exon4			AGCTTCAGCCCTC	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.915A>T	chr7.hg19:g.100086259A>T		69.0	0.0		57.0	30.0	NM_173564	Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	hg19	CCDS5696.1																																																																																			.	A|0.998;C|0.002		0.692	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
MUC17	140453	hgsc.bcm.edu	37	7	100674961	100674961	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:100674961C>A	ENST00000306151.4	+	3	328	c.264C>A	c.(262-264)aaC>aaA	p.N88K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	88	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAGCACCAACCCTGAGATGA	0.458																																					p.N88K		Atlas-SNP	.											.	MUC17	804	.	0			c.C264A						.						117.0	110.0	112.0					7																	100674961		2203	4300	6503	SO:0001583	missense	140453	exon3			CACCAACCCTGAG	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.264C>A	chr7.hg19:g.100674961C>A	ENSP00000302716:p.Asn88Lys	116.0	0.0		113.0	61.0	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.259	-0.616493	0.03663	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	0.463	0.463	0.16700	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.45026	-0.9289	8	0.10636	T	0.68	.	.	.	.	.	88	Q685J3	MUC17_HUMAN	K	88	ENSP00000302716:N88K	ENSP00000302716:N88K	N	+	3	2	MUC17	100461681	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.322000	0.02695	0.503000	0.28060	0.508000	0.49915	AAC	.	.		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	hgsc.bcm.edu	37	7	100685847	100685847	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:100685847C>A	ENST00000306151.4	+	3	11214	c.11150C>A	c.(11149-11151)cCt>cAt	p.P3717H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3717	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAACACCTTCTGTTGTC	0.502																																					p.P3717H		Atlas-SNP	.											.	MUC17	804	.	0			c.C11150A						.						226.0	205.0	212.0					7																	100685847		2203	4300	6503	SO:0001583	missense	140453	exon3			CAACACCTTCTGT	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11150C>A	chr7.hg19:g.100685847C>A	ENSP00000302716:p.Pro3717His	32.0	0.0		29.0	12.0	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.269993	0.23221	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	2.12	2.12	0.27331	.	.	.	.	.	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	D	0.64830	0.994	D	0.73708	0.981	T	0.52801	-0.8527	9	0.33141	T	0.24	.	9.886	0.41262	0.0:1.0:0.0:0.0	.	3717	Q685J3	MUC17_HUMAN	H	3717	ENSP00000302716:P3717H	ENSP00000302716:P3717H	P	+	2	0	MUC17	100472567	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.280000	0.02804	1.190000	0.43042	0.423000	0.28283	CCT	.	.		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TMEM168	64418	hgsc.bcm.edu	37	7	112407617	112407617	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:112407617T>C	ENST00000312814.6	-	5	2289	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	TMEM168_ENST00000454074.1_Missense_Mutation_p.I577V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	577						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTTCTTCAATATCTACTGTT	0.413																																					p.I577V		Atlas-SNP	.											.	TMEM168	84	.	0			c.A1729G						.						97.0	94.0	95.0					7																	112407617		2203	4300	6503	SO:0001583	missense	64418	exon5			CTTCAATATCTAC		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1729A>G	chr7.hg19:g.112407617T>C	ENSP00000323068:p.Ile577Val	122.0	0.0		84.0	27.0	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	hg19	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	T	0.201	-1.044389	0.01997	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.71	3.32	0.38043	.	0.432949	0.27604	N	0.018639	T	0.10594	0.0259	N	0.02142	-0.665	0.28467	N	0.915617	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	9	0.02654	T	1	0.0665	7.1602	0.25659	0.0:0.1357:0.2121:0.6522	.	577	Q9H0V1	TM168_HUMAN	V	577;577;193;138	.	ENSP00000323068:I577V	I	-	1	0	TMEM168	112194853	0.971000	0.33674	0.998000	0.56505	0.979000	0.70002	0.511000	0.22739	2.168000	0.68352	0.477000	0.44152	ATT	.	.		0.413	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
GPR85	54329	hgsc.bcm.edu	37	7	112724069	112724069	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:112724069A>T	ENST00000297146.3	-	3	1311	c.708T>A	c.(706-708)agT>agA	p.S236R	GPR85_ENST00000501255.2_Missense_Mutation_p.S236R|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000424100.1_Missense_Mutation_p.S236R|GPR85_ENST00000449591.1_Missense_Mutation_p.S236R	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	236					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTGCCTGGCCACTGGCTCCAG	0.517																																					p.S236R		Atlas-SNP	.											.	GPR85	49	.	0			c.T708A						.						68.0	74.0	72.0					7																	112724069		2203	4300	6503	SO:0001583	missense	54329	exon3			CTGGCCACTGGCT	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.708T>A	chr7.hg19:g.112724069A>T	ENSP00000297146:p.Ser236Arg	72.0	0.0		55.0	23.0	NM_001146265	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	hg19	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021860	0.35701	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.52	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.08118	0	0.58432	D	0.999997	P	0.43662	0.814	P	0.49887	0.625	T	0.21042	-1.0257	10	0.46703	T	0.11	.	8.9889	0.36010	0.6672:0.0:0.3328:0.0	.	236	P60893	GPR85_HUMAN	R	236	ENSP00000445808:S236R;ENSP00000297146:S236R;ENSP00000396763:S236R;ENSP00000401178:S236R	ENSP00000297146:S236R	S	-	3	2	GPR85	112511305	0.977000	0.34250	1.000000	0.80357	0.998000	0.95712	0.287000	0.18920	0.442000	0.26555	0.528000	0.53228	AGT	.	.		0.517	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2		
PPP1R3A	5506	hgsc.bcm.edu	37	7	113519017	113519017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:113519017G>T	ENST00000284601.3	-	4	2198	c.2130C>A	c.(2128-2130)tgC>tgA	p.C710*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	710					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACAGTTCACAGCACACTGTTT	0.403																																					p.C710X		Atlas-SNP	.											.	PPP1R3A	317	.	0			c.C2130A						.						203.0	198.0	200.0					7																	113519017		2203	4300	6503	SO:0001587	stop_gained	5506	exon4			TTCACAGCACACT	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2130C>A	chr7.hg19:g.113519017G>T	ENSP00000284601:p.Cys710*	76.0	0.0		54.0	27.0	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664661	0.88251	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	1.55	0.23275	.	0.811921	0.11615	N	0.546346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.4505	1.3849	0.02238	0.2274:0.095:0.256:0.4216	.	.	.	.	X	710	.	ENSP00000284601:C710X	C	-	3	2	PPP1R3A	113306253	0.008000	0.16893	0.133000	0.22050	0.982000	0.71751	0.104000	0.15313	0.364000	0.24374	0.650000	0.86243	TGC	.	.		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113520088	113520088	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:113520088T>A	ENST00000284601.3	-	4	1127	c.1059A>T	c.(1057-1059)gcA>gcT	p.A353A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	353					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTAACCCCTCTGCTTTATTTG	0.393																																					p.A353A		Atlas-SNP	.											.	PPP1R3A	317	.	0			c.A1059T						.						173.0	173.0	173.0					7																	113520088		2203	4300	6503	SO:0001819	synonymous_variant	5506	exon4			CCCCTCTGCTTTA	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1059A>T	chr7.hg19:g.113520088T>A		135.0	0.0		137.0	63.0	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	hg19	CCDS5759.1																																																																																			.	.		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
NAA38	84316	hgsc.bcm.edu	37	7	117828430	117828430	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:117828430A>T	ENST00000249299.2	+	3	363	c.171A>T	c.(169-171)ctA>ctT	p.L57L	NAA38_ENST00000424702.1_Silent_p.L57L|NAA38_ENST00000422760.1_Silent_p.L36L	NM_016200.4	NP_057284.1	Q9BRA0	LSMD1_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	99					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AAGTGGTACTAGGATTATACA	0.368																																					p.L57L		Atlas-SNP	.											.	NAA38	16	.	0			c.A171T						.						85.0	85.0	85.0					7																	117828430		2203	4300	6503	SO:0001819	synonymous_variant	51691	exon3			GGTACTAGGATTA		CCDS11122.1	17p13.1	2014-01-21	2014-01-21	2014-01-21		ENSG00000183011		"""N(alpha)-acetyltransferase subunits"""	28212	protein-coding gene	gene with protein product			"""LSM domain containing 1"""	LSMD1		16484612, 19398576	Standard	NM_032356		Approved	MGC14151, PFAAP2	uc002gja.3	Q9BRA0		ENST00000249299.2:c.171A>T	chr7.hg19:g.117828430A>T		67.0	0.0		62.0	24.0	NM_016200	Q8N4M0	Silent	SNP	ENST00000249299.2	hg19	CCDS5775.1																																																																																			.	.		0.368	NAA38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346774.2	NM_032356	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121684539	121684539	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:121684539C>A	ENST00000393386.2	+	23	6412	c.6001C>A	c.(6001-6003)Ctg>Atg	p.L2001M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.L1134M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2001					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTGAGGTGCTGGACAGTCA	0.418																																					p.L2001M		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.C6001A						.						178.0	163.0	168.0					7																	121684539		2203	4300	6503	SO:0001583	missense	5803	exon23			GAGGTGCTGGACA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6001C>A	chr7.hg19:g.121684539C>A	ENSP00000377047:p.Leu2001Met	70.0	0.0		81.0	38.0	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	8.348	0.830335	0.16749	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11385	2.78;2.78	5.5	4.62	0.57501	.	0.400107	0.23742	N	0.045017	T	0.12475	0.0303	L	0.40543	1.245	0.09310	N	1	B;B;B	0.16166	0.004;0.016;0.016	B;B;B	0.17098	0.009;0.005;0.017	T	0.16276	-1.0408	10	0.87932	D	0	.	16.4139	0.83728	0.0:0.8683:0.1317:0.0	.	1140;1134;2001	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	M	2001;1134	ENSP00000377047:L2001M;ENSP00000410000:L1134M	ENSP00000377047:L2001M	L	+	1	2	PTPRZ1	121471775	0.000000	0.05858	0.361000	0.25849	0.475000	0.33008	0.859000	0.27858	1.314000	0.45095	-0.165000	0.13383	CTG	.	.		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
RNF148	378925	hgsc.bcm.edu	37	7	122342188	122342188	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:122342188T>C	ENST00000434824.1	-	1	833	c.617A>G	c.(616-618)tAc>tGc	p.Y206C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	206						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCAATCTAAGTAAAAGTAGGC	0.443																																					p.Y206C		Atlas-SNP	.											.	RNF148	71	.	0			c.A617G						.						108.0	105.0	106.0					7																	122342188		1977	4169	6146	SO:0001583	missense	378925	exon1			TCTAAGTAAAAGT	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.617A>G	chr7.hg19:g.122342188T>C	ENSP00000388207:p.Tyr206Cys	41.0	0.0		44.0	23.0	NM_198085	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	hg19	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	1.530	-0.544547	0.04024	.	.	ENSG00000235631	ENST00000434824	T	0.04454	3.62	5.06	1.19	0.21007	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.31640	0.333	B	0.38921	0.285	T	0.43956	-0.9359	9	0.49607	T	0.09	.	0.4569	0.00510	0.3797:0.1618:0.1339:0.3245	.	206	Q8N7C7	RN148_HUMAN	C	206	ENSP00000388207:Y206C	ENSP00000388207:Y206C	Y	-	2	0	RNF148	122129424	.	.	0.228000	0.23943	0.093000	0.18481	.	.	0.311000	0.23014	-0.487000	0.04747	TAC	.	.		0.443	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
SPAM1	6677	hgsc.bcm.edu	37	7	123593884	123593884	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:123593884G>T	ENST00000439500.1	+	4	873	c.260G>T	c.(259-261)gGt>gTt	p.G87V	SPAM1_ENST00000460182.1_Missense_Mutation_p.G87V|SPAM1_ENST00000223028.7_Missense_Mutation_p.G87V|SPAM1_ENST00000402183.2_Missense_Mutation_p.G87V|SPAM1_ENST00000340011.5_Missense_Mutation_p.G87V	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	87					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCGGGCAAGGTGTTACAATA	0.413																																					p.G87V		Atlas-SNP	.											.	SPAM1	195	.	0			c.G260T						.						54.0	54.0	54.0					7																	123593884		2203	4300	6503	SO:0001583	missense	6677	exon3			GGCAAGGTGTTAC	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.260G>T	chr7.hg19:g.123593884G>T	ENSP00000402123:p.Gly87Val	104.0	0.0		89.0	43.0	NM_153189	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	hg19	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	g	16.93	3.257253	0.59321	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	6.03	-12.1	0.00011	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	2.386490	0.01091	N	0.005173	T	0.19327	0.0464	L	0.32530	0.975	0.09310	N	1	P;P	0.43662	0.814;0.814	P;P	0.47915	0.561;0.561	T	0.45131	-0.9282	9	.	.	.	1.0087	4.472	0.11717	0.4111:0.2836:0.2364:0.069	.	87;87	Q8TC30;P38567	.;HYALP_HUMAN	V	87	ENSP00000386028:G87V;ENSP00000417934:G87V;ENSP00000345849:G87V;ENSP00000402123:G87V;ENSP00000223028:G87V	.	G	+	2	0	SPAM1	123381120	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.452000	0.06787	-2.598000	0.00452	-2.053000	0.00404	GGT	.	.		0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
PAX4	5078	hgsc.bcm.edu	37	7	127251726	127251726	+	Missense_Mutation	SNP	G	G	T	rs529976183		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:127251726G>T	ENST00000341640.2	-	8	957	c.752C>A	c.(751-753)tCc>tAc	p.S251Y	PAX4_ENST00000378740.2_Missense_Mutation_p.S251Y|PAX4_ENST00000463946.1_Missense_Mutation_p.S249Y|PAX4_ENST00000338516.3_Silent_p.V240V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	259					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTGCCAGGGGACTGCTAAAA	0.567																																					p.S251Y	Ovarian(113;737 1605 7858 27720 34092)	Atlas-SNP	.											.	PAX4	66	.	0			c.C752A						.						42.0	48.0	46.0					7																	127251726		2203	4300	6503	SO:0001583	missense	5078	exon8			CCAGGGGACTGCT		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.752C>A	chr7.hg19:g.127251726G>T	ENSP00000339906:p.Ser251Tyr	27.0	0.0		22.0	12.0	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	hg19	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765820	0.31228	.	.	ENSG00000106331	ENST00000341640;ENST00000378740;ENST00000463946	D;D	0.94417	-3.42;-3.27	5.38	2.45	0.29901	.	0.715682	0.12007	N	0.508274	D	0.94905	0.8353	L	0.55990	1.75	0.09310	N	0.999998	D;D;D	0.69078	0.996;0.991;0.997	P;P;D	0.69479	0.875;0.687;0.964	D	0.86178	0.1604	10	0.51188	T	0.08	.	4.1428	0.10201	0.0869:0.1583:0.5909:0.1638	.	251;259;249	O43316-4;O43316;G3V4Q1	.;PAX4_HUMAN;.	Y	251;259;249	ENSP00000339906:S251Y;ENSP00000451923:S249Y	ENSP00000339906:S251Y	S	-	2	0	PAX4	127038962	0.080000	0.21391	0.042000	0.18584	0.217000	0.24651	0.900000	0.28431	0.286000	0.22352	0.655000	0.94253	TCC	.	.		0.567	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
LRRC4	64101	hgsc.bcm.edu	37	7	127670231	127670231	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:127670231G>A	ENST00000249363.3	-	2	720	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	155					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTTGTTGCGAAGCCAGAGC	0.592																																					p.R155C		Atlas-SNP	.											.	LRRC4	72	.	0			c.C463T						.						72.0	77.0	75.0					7																	127670231		2203	4300	6503	SO:0001583	missense	64101	exon2			TGTTGCGAAGCCA	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.463C>T	chr7.hg19:g.127670231G>A	ENSP00000249363:p.Arg155Cys	61.0	0.0		41.0	17.0	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	hg19	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248127	0.59103	.	.	ENSG00000128594	ENST00000249363;ENST00000494115	D;D	0.91577	-2.87;-2.66	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.91670	0.7367	L	0.35793	1.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91645	0.5330	10	0.72032	D	0.01	.	9.9972	0.41907	0.0:0.0:0.7984:0.2016	.	155	Q9HBW1	LRRC4_HUMAN	C	155;73	ENSP00000249363:R155C;ENSP00000418254:R73C	ENSP00000249363:R155C	R	-	1	0	LRRC4	127457467	0.871000	0.30034	1.000000	0.80357	0.999000	0.98932	1.307000	0.33516	2.316000	0.78162	0.655000	0.94253	CGC	.	.		0.592	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
CCDC136	64753	hgsc.bcm.edu	37	7	128449649	128449649	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:128449649A>T	ENST00000297788.4	+	11	2118	c.1751A>T	c.(1750-1752)gAg>gTg	p.E584V	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	584						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGCAGGAAGAGCTGCACAGG	0.597																																					p.E584V		Atlas-SNP	.											.	CCDC136	170	.	0			c.A1751T						.						23.0	27.0	26.0					7																	128449649		2077	4212	6289	SO:0001583	missense	64753	exon11			AGGAAGAGCTGCA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1751A>T	chr7.hg19:g.128449649A>T	ENSP00000297788:p.Glu584Val	149.0	0.0		118.0	60.0	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	hg19	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.385031|4.385031	0.82792|0.82792	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.53206|.	0.63|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.67392|0.67392	0.2888|0.2888	M|M	0.66939|0.66939	2.045|2.045	0.38759|0.38759	D|D	0.954279|0.954279	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.69932|0.69932	-0.5011|-0.5011	10|5	0.87932|.	D|.	0|.	-31.6808|-31.6808	12.8077|12.8077	0.57622|0.57622	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	584;584|.	Q96JN2-2;Q96JN2|.	.;CC136_HUMAN|.	V|C	584;584;584;175|461	ENSP00000297788:E584V|.	ENSP00000297788:E584V|.	E|S	+|+	2|1	0|0	CCDC136|CCDC136	128236885|128236885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.491000|4.491000	0.60326|0.60326	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAG|AGC	.	.		0.597	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
FLNC	2318	hgsc.bcm.edu	37	7	128488063	128488063	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:128488063A>T	ENST00000325888.8	+	26	4782	c.4521A>T	c.(4519-4521)ccA>ccT	p.P1507P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.P1507P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1507					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACTACACCCCAGCCACTGACG	0.662																																					p.P1507P		Atlas-SNP	.											.	FLNC	339	.	0			c.A4521T						.						26.0	35.0	32.0					7																	128488063		2123	4234	6357	SO:0001819	synonymous_variant	2318	exon26			CACCCCAGCCACT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4521A>T	chr7.hg19:g.128488063A>T		152.0	0.0		138.0	50.0	NM_001127487	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	hg19	CCDS43644.1																																																																																			.	.		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
FLNC	2318	hgsc.bcm.edu	37	7	128494857	128494857	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:128494857T>A	ENST00000325888.8	+	42	7287	c.7026T>A	c.(7024-7026)gcT>gcA	p.A2342A	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.A2309A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2342					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCGGGAGGCTGGCGCTGGGG	0.607																																					p.A2342A		Atlas-SNP	.											.	FLNC	339	.	0			c.T7026A						.						57.0	68.0	64.0					7																	128494857		2058	4201	6259	SO:0001819	synonymous_variant	2318	exon42			GGAGGCTGGCGCT	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7026T>A	chr7.hg19:g.128494857T>A		66.0	0.0		56.0	24.0	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	hg19	CCDS43644.1																																																																																			.	.		0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
SSMEM1	136263	hgsc.bcm.edu	37	7	129847933	129847933	+	Splice_Site	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:129847933G>T	ENST00000297819.3	+	1	234	c.183G>T	c.(181-183)tgG>tgT	p.W61C	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank|TMEM209_ENST00000336804.8_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	61						integral component of membrane (GO:0016021)											CTTCTGTCTGGGTAGGATATC	0.328																																					p.W61C		Atlas-SNP	.											.	.	.	.	0			c.G183T						.						163.0	164.0	164.0					7																	129847933		2203	4300	6503	SO:0001630	splice_region_variant	0	exon1			TGTCTGGGTAGGA	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.183+1G>T	chr7.hg19:g.129847933G>T		57.0	0.0		70.0	37.0	NM_145268		Missense_Mutation	SNP	ENST00000297819.3	hg19	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632429	0.67015	.	.	ENSG00000165120	ENST00000297819	T	0.61859	0.07	5.84	5.84	0.93424	.	0.105473	0.43579	D	0.000545	T	0.74496	0.3724	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75777	-0.3198	10	0.72032	D	0.01	-1.8671	15.638	0.76970	0.0:0.0:1.0:0.0	.	61	Q8WWF3	CG045_HUMAN	C	61	ENSP00000297819:W61C	ENSP00000297819:W61C	W	+	3	0	C7orf45	129635169	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.487000	0.53222	2.779000	0.95612	0.655000	0.94253	TGG	.	.		0.328	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268	Missense_Mutation
CALD1	800	hgsc.bcm.edu	37	7	134613624	134613624	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:134613624A>T	ENST00000361675.2	+	4	420	c.191A>T	c.(190-192)gAc>gTc	p.D64V	CALD1_ENST00000361901.2_Missense_Mutation_p.D64V|CALD1_ENST00000361388.2_Missense_Mutation_p.D64V|CALD1_ENST00000495522.1_Missense_Mutation_p.D58V|CALD1_ENST00000424922.1_Missense_Mutation_p.D58V|CALD1_ENST00000422748.1_Missense_Mutation_p.D64V|CALD1_ENST00000543443.1_Missense_Mutation_p.D69V|CALD1_ENST00000393118.2_Missense_Mutation_p.D58V|CALD1_ENST00000417172.1_Missense_Mutation_p.D64V			Q05682	CALD1_HUMAN	caldesmon 1	64	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAGGTGACCGACCAGGTGGAG	0.582																																					p.D64V		Atlas-SNP	.											.	CALD1	150	.	0			c.A191T						.						77.0	67.0	71.0					7																	134613624		2203	4300	6503	SO:0001583	missense	800	exon4			TGACCGACCAGGT	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.191A>T	chr7.hg19:g.134613624A>T	ENSP00000354826:p.Asp64Val	95.0	0.0		85.0	40.0	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	hg19	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958421	0.74016	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.55	5.55	0.83447	.	0.491893	0.16787	N	0.199531	T	0.65688	0.2715	M	0.66939	2.045	0.47547	D	0.999456	D;P;P;P;P;P;D;P	0.69078	0.979;0.942;0.928;0.928;0.928;0.928;0.997;0.863	P;P;P;P;P;P;D;P	0.65874	0.714;0.724;0.603;0.603;0.603;0.603;0.939;0.64	T	0.66428	-0.5926	10	0.56958	D	0.05	-38.7299	14.2652	0.66113	1.0:0.0:0.0:0.0	.	69;64;58;58;64;64;64;64	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	V	64;64;64;64;64;64;64;78;64;58;58;58;69	ENSP00000398826:D64V;ENSP00000411476:D64V;ENSP00000355000:D64V;ENSP00000395710:D64V;ENSP00000401988:D64V;ENSP00000354826:D64V;ENSP00000354513:D64V;ENSP00000390926:D78V;ENSP00000416611:D64V;ENSP00000376826:D58V;ENSP00000393621:D58V;ENSP00000419673:D58V;ENSP00000445641:D69V	ENSP00000355000:D64V	D	+	2	0	CALD1	134264164	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.637000	0.67854	2.101000	0.63845	0.459000	0.35465	GAC	.	.		0.582	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
SLC13A4	26266	hgsc.bcm.edu	37	7	135378973	135378973	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:135378973A>T	ENST00000354042.4	-	10	1719	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	344					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CTCAGAGAGCAGGTCTCTTTA	0.393																																					p.C344S		Atlas-SNP	.											.	SLC13A4	56	.	0			c.T1030A						.						155.0	147.0	150.0					7																	135378973		2203	4300	6503	SO:0001583	missense	26266	exon10			GAGAGCAGGTCTC	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1030T>A	chr7.hg19:g.135378973A>T	ENSP00000297282:p.Cys344Ser	31.0	0.0		53.0	29.0	NM_012450	A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	hg19	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914237	0.52546	.	.	ENSG00000164707	ENST00000354042	T	0.69561	-0.41	5.5	5.5	0.81552	.	0.142718	0.64402	D	0.000004	T	0.55337	0.1914	N	0.25485	0.75	0.80722	D	1	B;B	0.29378	0.243;0.088	B;B	0.32724	0.151;0.107	T	0.54009	-0.8357	10	0.32370	T	0.25	-10.7419	13.5883	0.61944	1.0:0.0:0.0:0.0	.	213;344	Q59HF0;Q9UKG4	.;S13A4_HUMAN	S	344	ENSP00000297282:C344S	ENSP00000297282:C344S	C	-	1	0	SLC13A4	135029513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.651000	0.91078	2.090000	0.63153	0.460000	0.39030	TGC	.	.		0.393	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
CHRM2	1129	hgsc.bcm.edu	37	7	136700927	136700927	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:136700927T>A	ENST00000445907.2	+	3	1843	c.1315T>A	c.(1315-1317)Tgc>Agc	p.C439S	CHRM2_ENST00000402486.3_Missense_Mutation_p.C439S|CHRM2_ENST00000401861.1_Missense_Mutation_p.C439S|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C439S|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C439S|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.C439S|hsa-mir-490_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	439					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAACCCTGCCTGCTATGCACT	0.418																																					p.C439S		Atlas-SNP	.											.	CHRM2	167	.	0			c.T1315A						.						233.0	198.0	210.0					7																	136700927		2203	4300	6503	SO:0001583	missense	1129	exon3			CCTGCCTGCTATG		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1315T>A	chr7.hg19:g.136700927T>A	ENSP00000399745:p.Cys439Ser	163.0	0.0		148.0	63.0	NM_001006632	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	hg19	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890363	0.72524	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.72481	-0.4280	10	0.72032	D	0.01	-0.8965	16.1773	0.81862	0.0:0.0:0.0:1.0	.	439	P08172	ACM2_HUMAN	S	439	ENSP00000399745:C439S;ENSP00000415386:C439S;ENSP00000319984:C439S;ENSP00000380733:C439S;ENSP00000384937:C439S;ENSP00000384401:C439S	ENSP00000319984:C439S	C	+	1	0	CHRM2	136351467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	2.217000	0.71921	0.482000	0.46254	TGC	.	.		0.418	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
DGKI	9162	hgsc.bcm.edu	37	7	137170144	137170144	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:137170144A>T	ENST00000288490.5	-	24	2403	c.2403T>A	c.(2401-2403)tcT>tcA	p.S801S	DGKI_ENST00000453654.2_Silent_p.S501S|DGKI_ENST00000446122.1_Silent_p.S783S|DGKI_ENST00000424189.2_Silent_p.S804S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	801					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTGGGAGCCAGAAGAAACTG	0.358																																					p.S801S		Atlas-SNP	.											.	DGKI	335	.	0			c.T2403A						.						80.0	80.0	80.0					7																	137170144		2202	4300	6502	SO:0001819	synonymous_variant	9162	exon24			GGAGCCAGAAGAA	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2403T>A	chr7.hg19:g.137170144A>T		237.0	0.0		190.0	97.0	NM_004717	A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	hg19	CCDS5845.1																																																																																			.	.		0.358	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138749665	138749665	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:138749665T>C	ENST00000242351.5	-	8	2269	c.1953A>G	c.(1951-1953)ccA>ccG	p.P651P	ZC3HAV1_ENST00000471652.1_Silent_p.P651P|ZC3HAV1_ENST00000464606.1_Silent_p.P773P	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCGCCTGAAATGGCACAACTC	0.453																																					p.P651P		Atlas-SNP	.											.	ZC3HAV1	75	.	0			c.A1953G						.						132.0	123.0	126.0					7																	138749665		2203	4300	6503	SO:0001819	synonymous_variant	56829	exon8			CTGAAATGGCACA	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1953A>G	chr7.hg19:g.138749665T>C		58.0	0.0		72.0	36.0	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	hg19	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	T	4.059	0.008796	0.07912	.	.	ENSG00000105939	ENST00000460845	.	.	.	4.32	-8.63	0.00878	.	.	.	.	.	T	0.61689	0.2367	.	.	.	0.41960	D	0.990704	.	.	.	.	.	.	T	0.74904	-0.3505	4	.	.	.	.	15.1291	0.72507	0.0:0.6453:0.1928:0.162	.	.	.	.	V	216	.	.	I	-	1	0	ZC3HAV1	138400205	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.360000	0.00128	-3.886000	0.00095	-0.934000	0.02701	ATT	.	.		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
DENND2A	27147	hgsc.bcm.edu	37	7	140301960	140301961	+	Missense_Mutation	DNP	CC	CC	AA	rs368178368	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:140301960_140301961CC>AA	ENST00000275884.6	-	2	654_655	c.237_238GG>TT	c.(235-240)acGGtg>acTTtg	p.V80L	DENND2A_ENST00000537639.1_Missense_Mutation_p.V80L|DENND2A_ENST00000492720.1_Missense_Mutation_p.V80L|DENND2A_ENST00000496613.1_Missense_Mutation_p.V80L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	80					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTCCTCTCCACCGTAGAGGACG	0.525																																					p.V80L|p.T79T		Atlas-SNP	.											.	DENND2A	132	.	0			c.G238T|c.G237T						.																																			SO:0001583	missense	27147	exon1			TCTCCACCGTAGA|CTCCACCGTAGAG	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.237_238delinsAA	chr7.hg19:g.140301960_140301961delinsAA	ENSP00000275884:p.Val80Leu	207.0|209.0	0.0		159.0|160.0	66.0|67.0	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation|Silent	SNP	ENST00000275884.6	hg19	CCDS43659.1																																																																																			.	.		0.525	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
PRSS58	136541	hgsc.bcm.edu	37	7	141952141	141952141	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:141952141A>C	ENST00000552471.1	-	5	945	c.626T>G	c.(625-627)cTg>cGg	p.L209R	PRSS58_ENST00000547058.2_Missense_Mutation_p.L209R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CGCAAAAGACAGGATTCCTTG	0.393																																					p.L209R		Atlas-SNP	.											.	PRSS58	41	.	0			c.T626G						.						56.0	59.0	58.0					7																	141952141		2203	4300	6503	SO:0001583	missense	136541	exon6			AAAGACAGGATTC		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.626T>G	chr7.hg19:g.141952141A>C	ENSP00000446916:p.Leu209Arg	123.0	0.0		119.0	45.0	NM_001001317	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	hg19	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819437	0.71028	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82255	-1.59;-1.59	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90755	0.7098	M	0.83953	2.67	0.34656	D	0.722132	D	0.89917	1.0	D	0.91635	0.999	D	0.94325	0.7557	9	0.87932	D	0	.	11.4549	0.50176	1.0:0.0:0.0:0.0	.	209	Q8IYP2	PRS58_HUMAN	R	209	ENSP00000447588:L209R;ENSP00000446916:L209R	ENSP00000307206:L209R	L	-	2	0	PRSS58	141598619	0.998000	0.40836	0.381000	0.26106	0.864000	0.49448	6.520000	0.73773	2.199000	0.70637	0.533000	0.62120	CTG	.	.		0.393	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
TRPV5	56302	hgsc.bcm.edu	37	7	142612494	142612494	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:142612494C>A	ENST00000265310.1	-	10	1617	c.1269G>T	c.(1267-1269)ggG>ggT	p.G423G		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	423					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)					CATGGAATGGCCCCCCAAGAA	0.507																																					p.G423G		Atlas-SNP	.											.,1	TRPV5	164	.	0			c.G1269T						.						150.0	146.0	147.0					7																	142612494		2203	4300	6503	SO:0001819	synonymous_variant	56302	exon10			GAATGGCCCCCCA	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.1269G>T	chr7.hg19:g.142612494C>A		264.0	0.0		188.0	83.0	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	hg19	CCDS5875.1																																																																																			.	.		0.507	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
FAM131B	9715	hgsc.bcm.edu	37	7	143054107	143054107	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:143054107C>A	ENST00000409408.1	-	6	2243	c.535G>T	c.(535-537)Gct>Tct	p.A179S	FAM131B_ENST00000443739.2_Missense_Mutation_p.A207S|FAM131B_ENST00000409578.1_Missense_Mutation_p.A195S|FAM131B_ENST00000409346.1_Missense_Mutation_p.A179S|FAM131B_ENST00000409222.3_Missense_Mutation_p.A179S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	179										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGTGCTTGAGCCAGGGCATCT	0.547																																					p.A207S		Atlas-SNP	.											FAM131B_ENST00000443739,NS,carcinoma,0,2	FAM131B	104	.	0			c.G619T						.						40.0	35.0	36.0					7																	143054107		2203	4300	6503	SO:0001583	missense	9715	exon7			CTTGAGCCAGGGC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.535G>T	chr7.hg19:g.143054107C>A	ENSP00000387017:p.Ala179Ser	132.0	0.0		99.0	44.0	NM_001031690	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	hg19	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614637	0.28712	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.46	3.66	0.41972	.	0.204214	0.50627	D	0.000101	T	0.22551	0.0544	L	0.51422	1.61	0.52501	D	0.999955	B;B	0.22683	0.073;0.018	B;B	0.28305	0.088;0.011	T	0.03344	-1.1046	10	0.09338	T	0.73	-31.3557	11.6752	0.51425	0.0:0.8573:0.0:0.1427	.	195;179	Q86XD5-2;Q86XD5	.;F131B_HUMAN	S	207;195;179;183;179;179	ENSP00000410603:A207S;ENSP00000386568:A195S;ENSP00000386984:A179S;ENSP00000387017:A179S;ENSP00000387147:A179S	ENSP00000387147:A179S	A	-	1	0	FAM131B	142764229	0.264000	0.24093	0.605000	0.28930	0.984000	0.73092	0.711000	0.25764	0.681000	0.31386	0.655000	0.94253	GCT	.	.		0.547	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690	
NOM1	64434	hgsc.bcm.edu	37	7	156742760	156742760	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:156742760T>A	ENST00000275820.3	+	1	344	c.329T>A	c.(328-330)cTg>cAg	p.L110Q		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	110	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCCCGGCCTGGGAGGCCGA	0.701																																					p.L110Q		Atlas-SNP	.											.	NOM1	73	.	0			c.T329A						.						2.0	3.0	3.0					7																	156742760		1586	3439	5025	SO:0001583	missense	64434	exon1			CCGGCCTGGGAGG	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.329T>A	chr7.hg19:g.156742760T>A	ENSP00000275820:p.Leu110Gln	4.0	0.0		19.0	10.0	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	hg19	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	C	6.301	0.423633	0.11928	.	.	ENSG00000146909	ENST00000275820	T	0.11277	2.79	3.37	3.37	0.38596	.	6.464470	0.01392	U	0.013265	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	10	0.13108	T	0.6	-0.0063	8.2323	0.31605	0.0:0.6603:0.246:0.0937	.	110	Q5C9Z4	NOM1_HUMAN	Q	110	ENSP00000275820:L110Q	ENSP00000275820:L110Q	L	+	2	0	NOM1	156435521	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-0.355000	0.07671	0.412000	0.25729	-0.360000	0.07572	CTG	.	.		0.701	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
DNAJB6	10049	hgsc.bcm.edu	37	7	157160147	157160147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr7:157160147G>T	ENST00000262177.4	+	5	521	c.316G>T	c.(316-318)Gga>Tga	p.G106*	DNAJB6_ENST00000452797.2_Nonsense_Mutation_p.G57*|DNAJB6_ENST00000443280.1_Nonsense_Mutation_p.G106*|DNAJB6_ENST00000429029.2_Nonsense_Mutation_p.G106*	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	106	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTTTTTGGTGGAAGGGACCC	0.428																																					p.G106X	Esophageal Squamous(46;195 967 1350 20350 43814)	Atlas-SNP	.											.	DNAJB6	39	.	0			c.G316T						.						138.0	128.0	132.0					7																	157160147		2203	4300	6503	SO:0001587	stop_gained	10049	exon5			TTTGGTGGAAGGG	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.316G>T	chr7.hg19:g.157160147G>T	ENSP00000262177:p.Gly106*	75.0	0.0		59.0	29.0	NM_058246	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Nonsense_Mutation	SNP	ENST00000262177.4	hg19	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266250	0.95399	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000443280;ENST00000421417;ENST00000412557	.	.	.	4.58	3.7	0.42460	.	0.261160	0.26404	N	0.024561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.9127	0.58189	0.0793:0.0:0.9207:0.0	.	.	.	.	X	106;106;106;106;57;106;106;106	.	ENSP00000262177:G106X	G	+	1	0	DNAJB6	156852908	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.659000	0.91116	1.050000	0.40346	-0.140000	0.14226	GGA	.	.		0.428	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2		
CSMD1	64478	hgsc.bcm.edu	37	8	2823327	2823327	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:2823327T>A	ENST00000520002.1	-	60	9808	c.9253A>T	c.(9253-9255)Agg>Tgg	p.R3085W	CSMD1_ENST00000537824.1_Missense_Mutation_p.R3084W|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3085W|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3085	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATTCCACCTGCCGTCTTTG	0.433																																					p.R3084W		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A9250T						.						75.0	78.0	77.0					8																	2823327		2015	4195	6210	SO:0001583	missense	64478	exon59			TCCACCTGCCGTC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9253A>T	chr8.hg19:g.2823327T>A	ENSP00000430733:p.Arg3085Trp	134.0	0.0		61.0	43.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.14|11.14	1.549940|1.549940	0.27652|0.27652	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.66099	.|-0.19;-0.19	5.42|5.42	2.96|2.96	0.34315|0.34315	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.145914	.|0.44483	.|D	.|0.000444	T|T	0.48696|0.48696	0.1514|0.1514	L|L	0.38175|0.38175	1.15|1.15	0.42923|0.42923	D|D	0.994298|0.994298	.|B;B	.|0.23735	.|0.09;0.03	.|B;B	.|0.22753	.|0.015;0.041	T|T	0.42344|0.42344	-0.9457|-0.9457	5|10	.|0.72032	.|D	.|0.01	.|.	7.5044|7.5044	0.27536|0.27536	0.1265:0.0695:0.0:0.804|0.1265:0.0695:0.0:0.804	.|.	.|3085;3085	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	L|W	2501|3085;2946;3084	.|ENSP00000430733:R3085W;ENSP00000441462:R3084W	.|ENSP00000320445:R2946W	Q|R	-|-	2|1	0|2	CSMD1|CSMD1	2810734|2810734	0.720000|0.720000	0.27996|0.27996	0.001000|0.001000	0.08648|0.08648	0.019000|0.019000	0.09904|0.09904	1.041000|1.041000	0.30291|0.30291	0.327000|0.327000	0.23409|0.23409	0.533000|0.533000	0.62120|0.62120	CAG|AGG	.	.		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	hgsc.bcm.edu	37	8	2944651	2944651	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:2944651T>A	ENST00000520002.1	-	50	8000	c.7445A>T	c.(7444-7446)tAc>tTc	p.Y2482F	CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2481F|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2482F|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2481F|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y2482F|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2482F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2482	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCCCACTGGTACATGCCAAG	0.498																																					p.Y2481F		Atlas-SNP	.											.	CSMD1	1469	.	0			c.A7442T						.						95.0	97.0	96.0					8																	2944651		2035	4186	6221	SO:0001583	missense	64478	exon49			CACTGGTACATGC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7445A>T	chr8.hg19:g.2944651T>A	ENSP00000430733:p.Tyr2482Phe	64.0	0.0		17.0	14.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	T	7.500	0.652486	0.14580	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.81	3.38	0.38709	Complement control module (2);Sushi/SCR/CCP (3);	0.159945	0.43260	D	0.000587	T	0.49287	0.1548	L	0.46741	1.465	0.80722	D	1	B;B;B	0.17038	0.005;0.02;0.014	B;B;B	0.25405	0.011;0.06;0.036	T	0.24154	-1.0168	10	0.10636	T	0.68	.	7.4321	0.27134	0.1384:0.0685:0.0:0.7931	.	2482;2482;2481	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	F	2482;2482;2343;2481;2481	ENSP00000383047:Y2482F;ENSP00000430733:Y2482F;ENSP00000441462:Y2481F;ENSP00000446243:Y2481F	ENSP00000320445:Y2343F	Y	-	2	0	CSMD1	2932058	1.000000	0.71417	0.493000	0.27502	0.029000	0.11900	2.473000	0.45145	0.423000	0.26033	0.459000	0.35465	TAC	.	.		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	hgsc.bcm.edu	37	8	2964161	2964161	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:2964161C>A	ENST00000520002.1	-	47	7396	c.6841G>T	c.(6841-6843)Gat>Tat	p.D2281Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.D2280Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2281Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2280Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2281Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2281Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2281	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCACAAAATCTCCTAGAAGA	0.468																																					p.D2280Y		Atlas-SNP	.											.	CSMD1	1469	.	0			c.G6838T						.						45.0	46.0	46.0					8																	2964161		1923	4128	6051	SO:0001583	missense	64478	exon46			CAAAATCTCCTAG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6841G>T	chr8.hg19:g.2964161C>A	ENSP00000430733:p.Asp2281Tyr	121.0	0.0		49.0	38.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385605|3.385605	0.61956|0.61956	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.67171|.	-0.25;-0.25;-0.25;-0.25|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Complement control module (2);Sushi/SCR/CCP (3);|.	0.062552|.	0.64402|.	D|.	0.000011|.	D|D	0.87446|0.87446	0.6179|0.6179	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	D|D	0.90900|0.90900	0.4768|0.4768	10|5	0.52906|.	T|.	0.07|.	.|.	18.9876|18.9876	0.92779|0.92779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2281;2281;2280|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Y|I	2281;2281;2142;2280;2280|1760	ENSP00000383047:D2281Y;ENSP00000430733:D2281Y;ENSP00000441462:D2280Y;ENSP00000446243:D2280Y|.	ENSP00000320445:D2142Y|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	2951568|2951568	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.196000|0.196000	0.23810|0.23810	7.113000|7.113000	0.77095|0.77095	2.476000|2.476000	0.83614|0.83614	0.557000|0.557000	0.71058|0.71058	GAT|AGA	.	.		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	hgsc.bcm.edu	37	8	3216815	3216815	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:3216815G>T	ENST00000520002.1	-	22	3721	c.3166C>A	c.(3166-3168)Cga>Aga	p.R1056R	CSMD1_ENST00000537824.1_Silent_p.R1055R|CSMD1_ENST00000539096.1_Silent_p.R1055R|CSMD1_ENST00000400186.3_Silent_p.R1056R|CSMD1_ENST00000542608.1_Silent_p.R1055R|CSMD1_ENST00000602557.1_Silent_p.R1056R|CSMD1_ENST00000602723.1_Silent_p.R1056R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1056	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAATTCTTCGGCTGAAGGCA	0.488																																					p.R1055R		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C3163A						.						56.0	62.0	60.0					8																	3216815		2198	4300	6498	SO:0001819	synonymous_variant	64478	exon21			TTCTTCGGCTGAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3166C>A	chr8.hg19:g.3216815G>T		110.0	0.0		59.0	48.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	g	7.119	0.577602	0.13686	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.24	2.33	0.28932	.	.	.	.	.	T	0.68979	0.3060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66044	-0.6021	4	.	.	.	.	14.9564	0.71116	0.0:0.0:0.2929:0.7071	.	.	.	.	Q	535	.	.	P	-	2	0	CSMD1	3204222	1.000000	0.71417	0.694000	0.30210	0.770000	0.43624	3.725000	0.54970	0.163000	0.19507	-0.329000	0.08387	CCG	.	.		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
FAM66B	100128890	hgsc.bcm.edu	37	8	7190945	7190945	+	lincRNA	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:7190945G>C	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GAAGTCCAGTGGTATAAAATG	0.478																																					p.W346S		Atlas-SNP	.											.	.	.	.	0			c.G1037C						.																																					401447	exon1			TCCAGTGGTATAA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		chr8.hg19:g.7190945G>C		88.0	0.0		86.0	71.0	NM_001256873		Missense_Mutation	SNP	ENST00000606573.1	hg19																																																																																				.	.		0.478	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423	
CCAR2	57805	hgsc.bcm.edu	37	8	22476767	22476767	+	Missense_Mutation	SNP	C	C	G	rs201420827		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:22476767C>G	ENST00000308511.4	+	20	2875	c.2626C>G	c.(2626-2628)Cgg>Ggg	p.R876G	CCAR2_ENST00000389279.3_Missense_Mutation_p.R876G|CCAR2_ENST00000520861.1_Missense_Mutation_p.R551G|RP11-582J16.5_ENST00000521025.1_RNA|BIN3_ENST00000519335.1_5'Flank			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	876	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GGAGACCGCCCGGACGGCGGA	0.652																																					p.R876G		Atlas-SNP	.											.	KIAA1967	72	.	0			c.C2626G						.						11.0	11.0	11.0					8																	22476767		2163	4241	6404	SO:0001583	missense	57805	exon20			ACCGCCCGGACGG	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2626C>G	chr8.hg19:g.22476767C>G	ENSP00000310670:p.Arg876Gly	58.0	0.0		28.0	11.0	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	hg19	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449718	0.43531	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861	T;T;T	0.00349	7.99;7.99;7.99	5.55	4.68	0.58851	.	0.168975	0.40818	N	0.001007	T	0.00210	0.0006	N	0.24115	0.695	0.26740	N	0.970415	P;B	0.42357	0.777;0.358	B;B	0.40982	0.345;0.122	T	0.56263	-0.8008	10	0.54805	T	0.06	-22.3026	10.18	0.42961	0.0:0.9111:0.0:0.0889	.	551;876	G3V119;Q8N163	.;K1967_HUMAN	G	876;876;551	ENSP00000310670:R876G;ENSP00000373930:R876G;ENSP00000429773:R551G	ENSP00000310670:R876G	R	+	1	2	KIAA1967	22532712	0.616000	0.27035	0.516000	0.27786	0.470000	0.32858	2.449000	0.44935	1.583000	0.49898	0.655000	0.94253	CGG	.	C|1.000;T|0.000		0.652	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
ADAM7	8756	hgsc.bcm.edu	37	8	24346837	24346837	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:24346837C>T	ENST00000175238.6	+	12	1340	c.1257C>T	c.(1255-1257)ggC>ggT	p.G419G	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.G419G|ADAM7_ENST00000520720.1_Silent_p.G191G|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	419	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTGACTGTGGCCCTGCTCAGG	0.408																																					p.G419G		Atlas-SNP	.											.	ADAM7	165	.	0			c.C1257T						.						76.0	68.0	71.0					8																	24346837		2203	4300	6503	SO:0001819	synonymous_variant	8756	exon12			CTGTGGCCCTGCT	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1257C>T	chr8.hg19:g.24346837C>T		53.0	0.0		32.0	24.0	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	hg19	CCDS6045.1																																																																																			.	.		0.408	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ZNF395	55893	hgsc.bcm.edu	37	8	28206270	28206270	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:28206270C>T	ENST00000344423.5	-	10	1639	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q	ZNF395_ENST00000523095.1_Missense_Mutation_p.R503Q|ZNF395_ENST00000523202.1_Missense_Mutation_p.R503Q	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CTTCTTCCACCGGCAGGCCGT	0.607																																					p.R503Q		Atlas-SNP	.											.	ZNF395	54	.	0			c.G1508A						.						63.0	63.0	63.0					8																	28206270		2203	4300	6503	SO:0001583	missense	55893	exon10			TTCCACCGGCAGG	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1508G>A	chr8.hg19:g.28206270C>T	ENSP00000340494:p.Arg503Gln	91.0	0.0		24.0	24.0	NM_018660	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	hg19	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	37	6.196366	0.97367	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.37235	1.21;1.21;1.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70428	-0.4874	10	0.87932	D	0	-31.6561	17.4265	0.87527	0.0:1.0:0.0:0.0	.	503	Q9H8N7	ZN395_HUMAN	Q	503	ENSP00000340494:R503Q;ENSP00000429640:R503Q;ENSP00000428452:R503Q	ENSP00000340494:R503Q	R	-	2	0	ZNF395	28262189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.510000	0.81708	2.720000	0.93068	0.650000	0.86243	CGG	.	.		0.607	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1		
UNC5D	137970	hgsc.bcm.edu	37	8	35631946	35631946	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:35631946G>T	ENST00000404895.2	+	16	2936	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S	UNC5D_ENST00000449677.1_Missense_Mutation_p.A446S|UNC5D_ENST00000287272.2_Missense_Mutation_p.A801S|UNC5D_ENST00000416672.1_Missense_Mutation_p.A875S|UNC5D_ENST00000420357.1_Missense_Mutation_p.A803S|UNC5D_ENST00000453357.2_Missense_Mutation_p.A865S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	870	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACCCCCAATGCCAAAGGCAA	0.473																																					p.A870S		Atlas-SNP	.											.	UNC5D	393	.	0			c.G2608T						.						119.0	110.0	113.0					8																	35631946		2203	4300	6503	SO:0001583	missense	137970	exon16			CCCAATGCCAAAG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2608G>T	chr8.hg19:g.35631946G>T	ENSP00000385143:p.Ala870Ser	103.0	0.0		58.0	47.0	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	hg19	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	6.866	0.529150	0.13127	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.95	5.95	0.96441	Death (2);DEATH-like (2);	0.099013	0.64402	D	0.000001	T	0.73822	0.3636	N	0.20807	0.61	0.58432	D	0.999997	B;B;B	0.27166	0.17;0.141;0.17	B;B;B	0.30029	0.077;0.067;0.11	T	0.68254	-0.5457	10	0.02654	T	1	-26.1272	15.1548	0.72733	0.0:0.0:0.8589:0.1411	.	446;865;870	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	S	870;803;801;875;865;446	ENSP00000385143:A870S;ENSP00000392739:A803S;ENSP00000287272:A801S;ENSP00000412652:A875S;ENSP00000394303:A865S;ENSP00000397211:A446S	ENSP00000287272:A801S	A	+	1	0	UNC5D	35751488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.870000	0.56070	2.827000	0.97445	0.650000	0.86243	GCC	.	.		0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
IDO1	3620	hgsc.bcm.edu	37	8	39785506	39785506	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:39785506T>A	ENST00000518237.1	+	10	1653	c.1014T>A	c.(1012-1014)gcT>gcA	p.A338A	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.A338A	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	338					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GTGTGAAAGCTCTGGTCTCCC	0.498																																					p.A338A		Atlas-SNP	.											.	IDO1	43	.	0			c.T1014A						.						52.0	50.0	51.0					8																	39785506		1973	4170	6143	SO:0001819	synonymous_variant	3620	exon10			GAAAGCTCTGGTC	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.1014T>A	chr8.hg19:g.39785506T>A		140.0	0.0		95.0	48.0	NM_002164	Q540B4	Silent	SNP	ENST00000518237.1	hg19	CCDS47847.1																																																																																			.	.		0.498	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
C8orf4	56892	hgsc.bcm.edu	37	8	40011185	40011185	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:40011185A>C	ENST00000315792.3	+	1	197	c.134A>C	c.(133-135)cAa>cCa	p.Q45P		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	45					apoptotic process (GO:0006915)					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AACACAGACCAAGAATCACTA	0.478																																					p.Q45P		Atlas-SNP	.											.	C8orf4	7	.	0			c.A134C						.						118.0	106.0	110.0					8																	40011185		2203	4300	6503	SO:0001583	missense	56892	exon1			CAGACCAAGAATC	AF268037	CCDS6115.1	8p11.2	2014-07-11			ENSG00000176907	ENSG00000176907			1357	protein-coding gene	gene with protein product	"""human thyroid cancer 1"""	607702				11056052, 24937306	Standard	NM_020130		Approved	TC-1, hTC-1	uc003xnq.2	Q9NR00	OTTHUMG00000164045	ENST00000315792.3:c.134A>C	chr8.hg19:g.40011185A>C	ENSP00000319914:p.Gln45Pro	102.0	0.0		70.0	39.0	NM_020130		Missense_Mutation	SNP	ENST00000315792.3	hg19	CCDS6115.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829484	0.32329	.	.	ENSG00000176907	ENST00000315792	T	0.34667	1.35	6.08	6.08	0.98989	.	0.100173	0.64402	D	0.000001	T	0.39937	0.1097	L	0.46157	1.445	0.58432	D	0.999994	P	0.45212	0.853	P	0.44394	0.448	T	0.30504	-0.9976	10	0.87932	D	0	-5.1931	15.8241	0.78683	1.0:0.0:0.0:0.0	.	45	Q9NR00	CH004_HUMAN	P	45	ENSP00000319914:Q45P	ENSP00000319914:Q45P	Q	+	2	0	C8orf4	40130342	1.000000	0.71417	0.951000	0.38953	0.471000	0.32888	8.437000	0.90302	2.330000	0.79161	0.533000	0.62120	CAA	.	.		0.478	C8orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376943.1	NM_020130	
ANK1	286	hgsc.bcm.edu	37	8	41519015	41519015	+	Intron	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:41519015T>A	ENST00000347528.4	-	41	5703				RP11-930P14.1_ENST00000585088.1_RNA|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.K146M|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.K1871M|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.K1849M|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396942.1_Missense_Mutation_p.K1896M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTGGCCCGCTTCACTATCTG	0.617																																					p.K1871M		Atlas-SNP	.											.	ANK1	497	.	0			c.A5612T						.						82.0	73.0	76.0					8																	41519015		2203	4300	6503	SO:0001627	intron_variant	286	exon42			GCCCGCTTCACTA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5619+303A>T	chr8.hg19:g.41519015T>A		44.0	0.0		44.0	16.0	NM_000037	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	hg19	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.6|28.6	4.931534|4.931534	0.92389|0.92389	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000289734;ENST00000396942;ENST00000352337;ENST00000314214	.|T;T;T;D	.|0.93019	.|-1.35;-0.79;-1.12;-3.15	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.41500	.|U	.|0.000876	D|D	0.96703|0.96703	0.8924|0.8924	M|M	0.80183|0.80183	2.485|2.485	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.997;0.989	D|D	0.97154|0.97154	0.9833|0.9833	5|10	.|0.87932	.|D	.|0	.|.	15.81|15.81	0.78552|0.78552	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1871;1025;146	.|P16157-3;B3KX39;Q53ER1	.|.;.;.	D|M	1030|1871;1896;1849;146	.|ENSP00000289734:K1871M;ENSP00000380147:K1896M;ENSP00000309131:K1849M;ENSP00000319123:K146M	.|ENSP00000289734:K1871M	E|K	-|-	3|2	2|0	ANK1|ANK1	41638172|41638172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.250000|7.250000	0.78287|0.78287	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAA|AAG	.	.		0.617	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
MOS	4342	hgsc.bcm.edu	37	8	57026368	57026368	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:57026368C>A	ENST00000311923.1	-	1	173	c.174G>T	c.(172-174)gaG>gaT	p.E58D		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	58					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGCACACCTGCTCCCAGTCAA	0.637																																					p.E58D	Esophageal Squamous(124;373 2870 4778)	Atlas-SNP	.											.	MOS	63	.	0			c.G174T						.						42.0	42.0	42.0					8																	57026368		2203	4300	6503	SO:0001583	missense	4342	exon1			CACCTGCTCCCAG		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.174G>T	chr8.hg19:g.57026368C>A	ENSP00000310722:p.Glu58Asp	66.0	0.0		52.0	28.0	NM_005372	Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	hg19	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600350	0.13939	.	.	ENSG00000172680	ENST00000311923	D	0.93019	-3.15	5.14	-6.92	0.01644	Protein kinase-like domain (1);	0.444431	0.22203	N	0.063214	T	0.77778	0.4181	N	0.10629	0.01	0.26636	N	0.972385	B	0.18461	0.028	B	0.16289	0.015	T	0.71457	-0.4587	10	0.06494	T	0.89	.	10.8993	0.47043	0.1795:0.5946:0.0:0.226	.	58	P00540	MOS_HUMAN	D	58	ENSP00000310722:E58D	ENSP00000310722:E58D	E	-	3	2	MOS	57188922	0.000000	0.05858	0.983000	0.44433	0.995000	0.86356	-3.826000	0.00356	-0.666000	0.05310	0.557000	0.71058	GAG	.	.		0.637	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	
NSMAF	8439	hgsc.bcm.edu	37	8	59498516	59498516	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:59498516A>G	ENST00000038176.3	-	29	2702	c.2490T>C	c.(2488-2490)aaT>aaC	p.N830N	NSMAF_ENST00000427130.2_Silent_p.N861N	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	830					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				catcaatgacattaagacagc	0.463																																					p.N861N		Atlas-SNP	.											.	NSMAF	156	.	0			c.T2583C						.						147.0	122.0	130.0					8																	59498516		2203	4300	6503	SO:0001819	synonymous_variant	8439	exon29			AATGACATTAAGA	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2490T>C	chr8.hg19:g.59498516A>G		77.0	0.0		64.0	21.0	NM_001144772	B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	hg19	CCDS6173.1																																																																																			.	.		0.463	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
TRPA1	8989	hgsc.bcm.edu	37	8	72983964	72983964	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:72983964T>A	ENST00000262209.4	-	2	457	c.250A>T	c.(250-252)Aga>Tga	p.R84*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	84					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GAGGAATCTCTGGTGATCTTC	0.343																																					p.R84X		Atlas-SNP	.											.	TRPA1	256	.	0			c.A250T						.						130.0	120.0	124.0					8																	72983964		2203	4300	6503	SO:0001587	stop_gained	8989	exon2			AATCTCTGGTGAT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.250A>T	chr8.hg19:g.72983964T>A	ENSP00000262209:p.Arg84*	73.0	0.0		69.0	27.0	NM_007332	A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	hg19	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997141	0.74818	.	.	ENSG00000104321	ENST00000262209	.	.	.	4.89	2.25	0.28309	.	0.760350	0.13067	N	0.416402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.157	4.5636	0.12172	0.0:0.1832:0.1801:0.6366	.	.	.	.	X	84	.	ENSP00000262209:R84X	R	-	1	2	TRPA1	73146518	0.181000	0.23161	0.119000	0.21687	0.011000	0.07611	0.740000	0.26188	1.833000	0.53350	0.460000	0.39030	AGA	.	.		0.343	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
SLC7A13	157724	hgsc.bcm.edu	37	8	87229922	87229922	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:87229922T>A	ENST00000297524.3	-	3	1059	c.956A>T	c.(955-957)cAa>cTa	p.Q319L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.Q310L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	319						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CTGGCCCTCTTGGCTTGCAAG	0.373																																					p.Q319L		Atlas-SNP	.											.	SLC7A13	97	.	0			c.A956T						.						90.0	103.0	98.0					8																	87229922		2203	4299	6502	SO:0001583	missense	157724	exon3			CCCTCTTGGCTTG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.956A>T	chr8.hg19:g.87229922T>A	ENSP00000297524:p.Gln319Leu	134.0	0.0		116.0	55.0	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	hg19	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585183	0.28268	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89875	-2.58;-2.58	5.27	-0.265	0.12946	Amino acid permease domain (1);	1.059620	0.07423	N	0.894402	T	0.81721	0.4882	L	0.40543	1.245	0.09310	N	1	B;B	0.27140	0.169;0.016	B;B	0.27796	0.083;0.025	T	0.68307	-0.5443	10	0.62326	D	0.03	.	1.9593	0.03383	0.1308:0.1525:0.1359:0.5807	.	310;319	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	L	319;310	ENSP00000297524:Q319L;ENSP00000410982:Q310L	ENSP00000297524:Q319L	Q	-	2	0	SLC7A13	87299038	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.558000	0.23469	-0.202000	0.10268	0.528000	0.53228	CAA	.	.		0.373	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
CNBD1	168975	hgsc.bcm.edu	37	8	88365947	88365947	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:88365947T>G	ENST00000518476.1	+	10	1287	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	412										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCAAGTTCCTTTCACGTGCA	0.328																																					p.P412P		Atlas-SNP	.											.	CNBD1	206	.	0			c.T1236G						.						95.0	93.0	94.0					8																	88365947		1840	4087	5927	SO:0001819	synonymous_variant	168975	exon10			AGTTCCTTTCACG	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1236T>G	chr8.hg19:g.88365947T>G		516.0	0.0		451.0	189.0	NM_173538		Silent	SNP	ENST00000518476.1	hg19	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	9.990	1.230540	0.22542	.	.	ENSG00000176571	ENST00000523299;ENST00000521593	.	.	.	4.98	-2.25	0.06888	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-18.6271	2.9238	0.05778	0.3098:0.2825:0.0:0.4076	.	.	.	.	R	104;49	.	.	L	+	2	0	CNBD1	88435063	0.909000	0.30893	0.326000	0.25389	0.954000	0.61252	-0.508000	0.06344	-0.697000	0.05092	0.454000	0.30748	CTT	.	.		0.328	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
NBN	4683	hgsc.bcm.edu	37	8	90995076	90995076	+	Silent	SNP	T	T	C	rs577332041		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:90995076T>C	ENST00000265433.3	-	2	199	c.45A>G	c.(43-45)ccA>ccG	p.P15P	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	15					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAGTCTGTATGGTTCTCCTG	0.353								Homologous recombination																													p.P15P		Atlas-SNP	.											.	NBN	86	.	0			c.A45G						.						88.0	85.0	86.0					8																	90995076		2203	4300	6503	SO:0001819	synonymous_variant	4683	exon2			TCTGTATGGTTCT	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.45A>G	chr8.hg19:g.90995076T>C		114.0	0.0		89.0	41.0	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	hg19	CCDS6249.1																																																																																			.	.		0.353	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
SLC26A7	115111	hgsc.bcm.edu	37	8	92401631	92401631	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:92401631T>A	ENST00000276609.3	+	16	1980	c.1741T>A	c.(1741-1743)Ttt>Att	p.F581I	SLC26A7_ENST00000309536.2_Missense_Mutation_p.F581I|SLC26A7_ENST00000523719.1_Missense_Mutation_p.F581I|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGATTTACCTTTTTTGACTA	0.403																																					p.F581I		Atlas-SNP	.											.	SLC26A7	207	.	0			c.T1741A						.						336.0	308.0	317.0					8																	92401631		2203	4300	6503	SO:0001583	missense	115111	exon16			TTTACCTTTTTTG	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1741T>A	chr8.hg19:g.92401631T>A	ENSP00000276609:p.Phe581Ile	113.0	0.0		71.0	34.0	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	hg19	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588445	0.66105	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.89939	-2.59;-2.59;-2.59	5.62	5.62	0.85841	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.080536	0.53938	D	0.000059	D	0.88198	0.6372	M	0.79475	2.455	0.37465	D	0.915382	P;P	0.43578	0.775;0.811	B;B	0.40602	0.225;0.334	D	0.90365	0.4376	10	0.62326	D	0.03	.	9.647	0.39875	0.0:0.0781:0.0:0.9219	.	581;581	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	I	581	ENSP00000428849:F581I;ENSP00000276609:F581I;ENSP00000309504:F581I	ENSP00000276609:F581I	F	+	1	0	SLC26A7	92470807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.412000	0.44609	2.141000	0.66446	0.460000	0.39030	TTT	.	.		0.403	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
RUNX1T1	862	hgsc.bcm.edu	37	8	92983058	92983058	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:92983058A>T	ENST00000523629.1	-	11	1821	c.1367T>A	c.(1366-1368)gTg>gAg	p.V456E	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V429E|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V419E|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V429E|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V456E|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V419E|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V467E|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V419E	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	456					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGCGCTTCACCTCATTGAC	0.547																																					p.V515E		Atlas-SNP	.											.	RUNX1T1	516	.	0			c.T1544A						.						59.0	48.0	51.0					8																	92983058		2203	4300	6503	SO:0001583	missense	862	exon11			CGCTTCACCTCAT	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1367T>A	chr8.hg19:g.92983058A>T	ENSP00000428543:p.Val456Glu	36.0	0.0		32.0	14.0	NM_001198679	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	hg19	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.965618	0.92855	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.987;0.999	T	0.74827	-0.3532	10	0.87932	D	0	-15.437	16.2806	0.82678	1.0:0.0:0.0:0.0	.	467;419;456;429	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	E	456;429;456;419;419;419;467;429	ENSP00000428543:V456E;ENSP00000379520:V429E;ENSP00000265814:V456E;ENSP00000353504:V419E;ENSP00000390137:V419E;ENSP00000428742:V419E;ENSP00000402257:V467E;ENSP00000430728:V429E	ENSP00000265814:V456E	V	-	2	0	RUNX1T1	93052234	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.339000	0.96797	2.248000	0.74166	0.533000	0.62120	GTG	.	.		0.547	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RUNX1T1	862	hgsc.bcm.edu	37	8	92998408	92998408	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:92998408C>T	ENST00000523629.1	-	9	1677	c.1223G>A	c.(1222-1224)aGt>aAt	p.S408N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S381N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S371N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S381N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S408N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S371N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S419N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S371N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	408	Poly-Ser.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S419I(1)|p.S371I(1)|p.S408I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTGCTGCTACTGCCGCCACC	0.498																																					p.S467N		Atlas-SNP	.											RUNX1T1_ENST00000436581,NS,carcinoma,0,3	RUNX1T1	516	.	3	Substitution - Missense(3)	lung(3)	c.G1400A						.						92.0	100.0	97.0					8																	92998408		2203	4300	6503	SO:0001583	missense	862	exon9			CTGCTACTGCCGC	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1223G>A	chr8.hg19:g.92998408C>T	ENSP00000428543:p.Ser408Asn	88.0	0.0		73.0	27.0	NM_001198679	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	hg19	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876355	0.33162	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.31510	1.5;1.49;1.5;1.49;1.49;1.49;1.5;1.49	5.44	5.44	0.79542	.	0.156586	0.56097	D	0.000028	T	0.25044	0.0608	L	0.44542	1.39	0.33826	D	0.62966	B;B;B	0.30793	0.295;0.088;0.27	B;B;B	0.26614	0.063;0.045;0.071	T	0.29336	-1.0015	10	0.19590	T	0.45	-1.156	13.5562	0.61761	0.0:0.926:0.0:0.074	.	419;408;381	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	N	408;381;408;371;371;371;419;381	ENSP00000428543:S408N;ENSP00000379520:S381N;ENSP00000265814:S408N;ENSP00000353504:S371N;ENSP00000390137:S371N;ENSP00000428742:S371N;ENSP00000402257:S419N;ENSP00000430728:S381N	ENSP00000265814:S408N	S	-	2	0	RUNX1T1	93067584	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	3.860000	0.55995	2.564000	0.86499	0.655000	0.94253	AGT	.	.		0.498	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
TMEM67	91147	hgsc.bcm.edu	37	8	94798504	94798504	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:94798504G>A	ENST00000453321.3	+	13	1400	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	TMEM67_ENST00000409623.3_Missense_Mutation_p.V367I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	448					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGTGGATGCAGTAAGTGGACG	0.343																																					p.V448I		Atlas-SNP	.											.	TMEM67	187	.	0			c.G1342A						.						66.0	68.0	67.0					8																	94798504		2203	4300	6503	SO:0001583	missense	91147	exon13			GATGCAGTAAGTG	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1342G>A	chr8.hg19:g.94798504G>A	ENSP00000389998:p.Val448Ile	51.0	0.0		55.0	20.0	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	hg19	CCDS6258.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.821|9.821	1.185842|1.185842	0.21870|0.21870	.|.	.|.	ENSG00000164953|ENSG00000164953	ENST00000520680|ENST00000452276;ENST00000453321;ENST00000409623;ENST00000453906	.|D;D;D;D	.|0.97114	.|-4.25;-4.25;-4.25;-4.25	5.7|5.7	0.111|0.111	0.14619|0.14619	.|.	.|0.413864	.|0.24676	.|N	.|0.036507	D|D	0.85004|0.85004	0.5598|0.5598	N|N	0.02286|0.02286	-0.61|-0.61	0.28748|0.28748	N|N	0.9016|0.9016	.|B;B;B	.|0.10296	.|0.001;0.003;0.002	.|B;B;B	.|0.10450	.|0.003;0.005;0.002	T|T	0.76830|0.76830	-0.2814|-0.2814	5|10	.|0.11485	.|T	.|0.65	-5.3407|-5.3407	1.1234|1.1234	0.01729|0.01729	0.2481:0.3592:0.1957:0.197|0.2481:0.3592:0.1957:0.197	.|.	.|448;367;367	.|Q5HYA8;B3KRU5;G5E9H2	.|MKS3_HUMAN;.;.	N|I	55|345;448;367;154	.|ENSP00000388671:V345I;ENSP00000389998:V448I;ENSP00000386966:V367I;ENSP00000403035:V154I	.|ENSP00000314488:V438I	S|V	+|+	2|1	0|0	TMEM67|TMEM67	94867680|94867680	0.244000|0.244000	0.23889|0.23889	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	0.220000|0.220000	0.17660|0.17660	0.343000|0.343000	0.23821|0.23821	-0.150000|-0.150000	0.13652|0.13652	AGT|GTA	.	.		0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
KIAA1429	25962	hgsc.bcm.edu	37	8	95501074	95501074	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:95501074G>T	ENST00000297591.5	-	24	5374	c.5299C>A	c.(5299-5301)Cct>Act	p.P1767T	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1767					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CGGTCCCGAGGACTTGGGCGG	0.463																																					p.P1767T		Atlas-SNP	.											.	KIAA1429	176	.	0			c.C5299A						.						96.0	86.0	90.0					8																	95501074		2203	4300	6503	SO:0001583	missense	25962	exon24			CCCGAGGACTTGG	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5299C>A	chr8.hg19:g.95501074G>T	ENSP00000297591:p.Pro1767Thr	109.0	0.0		66.0	35.0	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	hg19	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501851	0.85176	.	.	ENSG00000164944	ENST00000297591	T	0.46451	0.87	5.71	5.71	0.89125	.	0.105837	0.64402	D	0.000004	T	0.54319	0.1851	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58352	-0.7651	10	0.87932	D	0	-15.5659	19.8632	0.96793	0.0:0.0:1.0:0.0	.	1767	Q69YN4	VIR_HUMAN	T	1767	ENSP00000297591:P1767T	ENSP00000297591:P1767T	P	-	1	0	KIAA1429	95570250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.699000	0.92147	0.655000	0.94253	CCT	.	.		0.463	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
CCNE2	9134	hgsc.bcm.edu	37	8	95906153	95906153	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:95906153T>A	ENST00000520509.1	-	4	383	c.131A>T	c.(130-132)gAg>gTg	p.E44V	CCNE2_ENST00000308108.4_Missense_Mutation_p.E44V|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000396133.3_Missense_Mutation_p.E44V|NDUFAF6_ENST00000396113.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	44					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGTGACCTCCTCTCTTCTTTT	0.403																																					p.E44V		Atlas-SNP	.											.	CCNE2	29	.	0			c.A131T						.						137.0	140.0	139.0					8																	95906153		2203	4300	6503	SO:0001583	missense	9134	exon4			ACCTCCTCTCTTC	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.131A>T	chr8.hg19:g.95906153T>A	ENSP00000429089:p.Glu44Val	151.0	0.0		118.0	46.0	NM_057749	O95439	Missense_Mutation	SNP	ENST00000520509.1	hg19	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695230	0.48202	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000396133	T;T;T	0.33438	1.84;1.84;1.41	5.29	5.29	0.74685	.	0.426202	0.25114	N	0.033038	T	0.31606	0.0802	L	0.58101	1.795	0.31503	N	0.664503	B;B	0.14012	0.009;0.001	B;B	0.09377	0.004;0.001	T	0.28299	-1.0048	10	0.37606	T	0.19	.	13.7999	0.63192	0.0:0.0:0.0:1.0	.	44;44	Q8WUE3;O96020	.;CCNE2_HUMAN	V	44	ENSP00000429089:E44V;ENSP00000309181:E44V;ENSP00000379437:E44V	ENSP00000309181:E44V	E	-	2	0	CCNE2	95975329	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.613000	0.54152	2.001000	0.58596	0.459000	0.35465	GAG	.	.		0.403	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702	
RNF19A	25897	hgsc.bcm.edu	37	8	101287279	101287279	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:101287279T>A	ENST00000519449.1	-	4	1101	c.785A>T	c.(784-786)cAg>cTg	p.Q262L	RNF19A_ENST00000341084.2_Missense_Mutation_p.Q262L	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	262					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATCACAGGTCTGGTTGGGGTG	0.473																																					p.Q262L		Atlas-SNP	.											.	RNF19A	67	.	0			c.A785T						.						101.0	97.0	98.0					8																	101287279		2203	4300	6503	SO:0001583	missense	25897	exon4			CAGGTCTGGTTGG	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.785A>T	chr8.hg19:g.101287279T>A	ENSP00000428968:p.Gln262Leu	128.0	0.0		112.0	55.0	NM_015435	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892944	0.91889	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	T;T	0.61510	0.1;0.1	5.54	5.54	0.83059	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	L	0.60067	1.865	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.72343	-0.4322	10	0.46703	T	0.11	.	15.5127	0.75795	0.0:0.0:0.0:1.0	.	262	Q9NV58	RN19A_HUMAN	L	262	ENSP00000428968:Q262L;ENSP00000342667:Q262L	ENSP00000342667:Q262L	Q	-	2	0	RNF19A	101356455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.323000	0.78572	0.528000	0.53228	CAG	.	.		0.473	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
GRHL2	79977	hgsc.bcm.edu	37	8	102611327	102611327	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:102611327A>G	ENST00000251808.3	+	8	1384	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	GRHL2_ENST00000395927.1_Missense_Mutation_p.E333G	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	349					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AACATTGAAGAGATTGCATAT	0.378																																					p.E349G		Atlas-SNP	.											.	GRHL2	68	.	0			c.A1046G						.						123.0	113.0	116.0					8																	102611327		2203	4300	6503	SO:0001583	missense	79977	exon8			TTGAAGAGATTGC	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1046A>G	chr8.hg19:g.102611327A>G	ENSP00000251808:p.Glu349Gly	69.0	0.0		71.0	29.0	NM_024915	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	30	5.052843	0.93793	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.19532	2.14;2.14	5.73	5.73	0.89815	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59568	-0.7430	10	0.56958	D	0.05	-40.941	16.3123	0.82883	1.0:0.0:0.0:0.0	.	349	Q6ISB3	GRHL2_HUMAN	G	349;333;349	ENSP00000251808:E349G;ENSP00000379260:E333G	ENSP00000251808:E349G	E	+	2	0	GRHL2	102680503	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.204000	0.95041	2.308000	0.77769	0.533000	0.62120	GAG	.	.		0.378	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
RIMS2	9699	hgsc.bcm.edu	37	8	104924293	104924293	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:104924293T>G	ENST00000436393.2	+	4	1280	c.1039T>G	c.(1039-1041)Tgg>Ggg	p.W347G	RIMS2_ENST00000262231.10_Missense_Mutation_p.W424G|RIMS2_ENST00000406091.3_Missense_Mutation_p.W569G|RIMS2_ENST00000507740.1_Missense_Mutation_p.W377G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	647					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCTGTAACCTGGCAACCATC	0.323										HNSCC(12;0.0054)																											p.W569G		Atlas-SNP	.											.	RIMS2	1357	.	0			c.T1705G						.						104.0	98.0	100.0					8																	104924293		1818	4087	5905	SO:0001583	missense	9699	exon6			GTAACCTGGCAAC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1039T>G	chr8.hg19:g.104924293T>G	ENSP00000390665:p.Trp347Gly	53.0	0.0		57.0	26.0	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	hg19		.	.	.	.	.	.	.	.	.	.	T	17.61	3.432138	0.62844	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.28666	1.6;2.06;1.93;1.92;1.83;1.72;2.04	5.92	4.77	0.60923	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.51346	0.1669	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.998;0.998	T	0.52888	-0.8515	9	0.87932	D	0	.	11.905	0.52705	0.0:0.0675:0.0:0.9325	.	647;347;424;377;569	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	G	569;600;569;647;377;424;377;377;347	ENSP00000427018:W569G;ENSP00000384892:W569G;ENSP00000425205:W377G;ENSP00000262231:W424G;ENSP00000423559:W377G;ENSP00000386228:W377G;ENSP00000390665:W347G	ENSP00000262231:W424G	W	+	1	0	RIMS2	104993469	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	8.040000	0.89188	1.084000	0.41184	-0.256000	0.11100	TGG	.	.		0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
ZFPM2	23414	hgsc.bcm.edu	37	8	106813460	106813461	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:106813460_106813461CT>AC	ENST00000407775.2	+	8	1400_1401	c.1150_1151CT>AC	c.(1150-1152)CTc>ACc	p.L384T	ZFPM2_ENST00000517361.1_Missense_Mutation_p.L252T|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L252T|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L115T|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	384					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCACCAGGAGCTCCATGTCCCT	0.51																																					p.L384I|p.L384P		Atlas-SNP	.											.	ZFPM2	219	.	0			c.C1150A|c.T1151C						.																																			SO:0001583	missense	23414	exon8			CAGGAGCTCCATG|AGGAGCTCCATGT	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	Exception_encountered	chr8.hg19:g.106813460_106813461delinsAC	ENSP00000384179:p.Leu384Thr	137.0	0.0		106.0|105.0	48.0	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	hg19	CCDS47908.1																																																																																			.	.		0.510	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
OXR1	55074	hgsc.bcm.edu	37	8	107691475	107691475	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:107691475A>G	ENST00000442977.2	+	3	360	c.261A>G	c.(259-261)ggA>ggG	p.G87G	OXR1_ENST00000497705.1_Silent_p.G19G|OXR1_ENST00000517566.2_Silent_p.G86G|OXR1_ENST00000445937.1_Silent_p.G86G|OXR1_ENST00000312046.6_Silent_p.G79G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.G86G	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	87					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAAAGATGGAAGACGAATGT	0.338																																					p.G87G		Atlas-SNP	.											.	OXR1	190	.	0			c.A261G						.						91.0	95.0	93.0					8																	107691475		2203	4300	6503	SO:0001819	synonymous_variant	55074	exon3			AGATGGAAGACGA	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.261A>G	chr8.hg19:g.107691475A>G		184.0	0.0		137.0	60.0	NM_001198532	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	hg19	CCDS56548.1																																																																																			.	.		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
CSMD3	114788	hgsc.bcm.edu	37	8	113237150	113237150	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:113237150A>T	ENST00000297405.5	-	71	11218	c.10974T>A	c.(10972-10974)ccT>ccA	p.P3658P	CSMD3_ENST00000455883.2_Silent_p.P3489P|CSMD3_ENST00000343508.3_Silent_p.P3618P|CSMD3_ENST00000352409.3_Silent_p.P3588P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3658						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3618P(1)|p.P3658P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGTGTTTTAGGTGCAGTCC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P3658P		Atlas-SNP	.											CSMD3_ENST00000343508,NS,carcinoma,0,2	CSMD3	2325	.	2	Substitution - coding silent(2)	lung(2)	c.T10974A						.						279.0	256.0	264.0					8																	113237150		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon71			TGTTTTAGGTGCA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10974T>A	chr8.hg19:g.113237150A>T		105.0	0.0		102.0	32.0	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu	37	8	113702110	113702110	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:113702110T>A	ENST00000297405.5	-	14	2386	c.2142A>T	c.(2140-2142)atA>atT	p.I714I	CSMD3_ENST00000455883.2_Silent_p.I610I|CSMD3_ENST00000343508.3_Silent_p.I674I|CSMD3_ENST00000352409.3_Silent_p.I714I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	714	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACAGATGGGTATGTTTGCAG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.I714I		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A2142T						.						135.0	131.0	132.0					8																	113702110		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon14			GATGGGTATGTTT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2142A>T	chr8.hg19:g.113702110T>A		99.0	0.0		89.0	43.0	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TNFRSF11B	4982	hgsc.bcm.edu	37	8	119936998	119936998	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:119936998A>T	ENST00000297350.4	-	5	1199	c.821T>A	c.(820-822)aTt>aAt	p.I274N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	274	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACAGAGGTCAATATCTGCATA	0.433																																					p.I274N		Atlas-SNP	.											.	TNFRSF11B	87	.	0			c.T821A						.						64.0	57.0	59.0					8																	119936998		2203	4300	6503	SO:0001583	missense	4982	exon5			AGGTCAATATCTG	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.821T>A	chr8.hg19:g.119936998A>T	ENSP00000297350:p.Ile274Asn	80.0	0.0		58.0	31.0	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	hg19	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584972	0.66105	.	.	ENSG00000164761	ENST00000297350	D	0.93659	-3.26	5.74	5.74	0.90152	DEATH-like (1);	0.473189	0.25063	N	0.033432	D	0.92169	0.7517	M	0.63428	1.95	0.47778	D	0.99951	P	0.44195	0.828	B	0.40782	0.34	D	0.91716	0.5385	9	.	.	.	-18.0591	16.3426	0.83092	1.0:0.0:0.0:0.0	.	274	O00300	TR11B_HUMAN	N	274	ENSP00000297350:I274N	.	I	-	2	0	TNFRSF11B	120006179	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.252000	0.78309	2.317000	0.78254	0.460000	0.39030	ATT	.	.		0.433	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1		
ENPP2	5168	hgsc.bcm.edu	37	8	120594814	120594814	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:120594814A>G	ENST00000075322.6	-	18	1630	c.1572T>C	c.(1570-1572)aaT>aaC	p.N524N	ENPP2_ENST00000259486.6_Silent_p.N576N|ENPP2_ENST00000522167.1_Silent_p.N163N|ENPP2_ENST00000427067.2_Silent_p.N520N|ENPP2_ENST00000522826.1_Silent_p.N524N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	524					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGGTCCCATTATTAGGAGCTG	0.408																																					p.N576N	Melanoma(20;305 879 2501 4818 31020)	Atlas-SNP	.											.	ENPP2	254	.	0			c.T1728C						.						137.0	143.0	141.0					8																	120594814		2203	4300	6503	SO:0001819	synonymous_variant	5168	exon19			CCCATTATTAGGA	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1572T>C	chr8.hg19:g.120594814A>G		63.0	0.0		89.0	34.0	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	hg19	CCDS34936.1																																																																																			.	.		0.408	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
KLHL38	340359	hgsc.bcm.edu	37	8	124664565	124664565	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:124664565A>G	ENST00000325995.7	-	1	625	c.602T>C	c.(601-603)aTg>aCg	p.M201T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	201	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GATCCAAACCATGAGGGCCTC	0.562																																					p.M201T		Atlas-SNP	.											.	KLHL38	81	.	0			c.T602C						.						63.0	67.0	65.0					8																	124664565		2092	4203	6295	SO:0001583	missense	340359	exon1			CAAACCATGAGGG		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.602T>C	chr8.hg19:g.124664565A>G	ENSP00000321475:p.Met201Thr	88.0	0.0		80.0	36.0	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	hg19	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091757	0.36952	.	.	ENSG00000175946	ENST00000325995	T	0.69806	-0.43	5.84	5.84	0.93424	BTB/Kelch-associated (2);	0.082267	0.85682	D	0.000000	T	0.71576	0.3356	M	0.79805	2.47	0.41906	D	0.990442	P	0.35894	0.526	B	0.40636	0.335	T	0.75416	-0.3325	10	0.62326	D	0.03	.	12.0333	0.53410	0.9311:0.0:0.0689:0.0	.	201	Q2WGJ6	KLH38_HUMAN	T	201	ENSP00000321475:M201T	ENSP00000321475:M201T	M	-	2	0	KLHL38	124733746	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.473000	0.81007	2.234000	0.73211	0.459000	0.35465	ATG	.	.		0.562	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
FER1L6	654463	hgsc.bcm.edu	37	8	124987506	124987506	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:124987506A>T	ENST00000522917.1	+	8	849	c.643A>T	c.(643-645)Acc>Tcc	p.T215S	FER1L6_ENST00000399018.1_Missense_Mutation_p.T215S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	215						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTCTTGAAGACCAGCCCTAA	0.473																																					p.T215S		Atlas-SNP	.											.	FER1L6	268	.	0			c.A643T						.						126.0	123.0	124.0					8																	124987506		1965	4150	6115	SO:0001583	missense	654463	exon8			TTGAAGACCAGCC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.643A>T	chr8.hg19:g.124987506A>T	ENSP00000428280:p.Thr215Ser	323.0	0.0		216.0	95.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	3.203	-0.163329	0.06502	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.70869	-0.52;-0.52	5.46	-1.36	0.09085	C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.562931	0.17258	N	0.180883	T	0.44307	0.1287	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.15492	-1.0435	10	0.36615	T	0.2	.	0.2357	0.00185	0.3099:0.2621:0.1921:0.2359	.	215	Q2WGJ9	FR1L6_HUMAN	S	215	ENSP00000428280:T215S;ENSP00000381982:T215S	ENSP00000381982:T215S	T	+	1	0	FER1L6	125056687	0.462000	0.25791	0.992000	0.48379	0.027000	0.11550	0.193000	0.17116	-0.119000	0.11830	-1.256000	0.01477	ACC	.	.		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	hgsc.bcm.edu	37	8	124998413	124998413	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:124998413A>G	ENST00000522917.1	+	12	1722	c.1516A>G	c.(1516-1518)Att>Gtt	p.I506V	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.I506V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	506						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAAGTTTCTATTGGTAAGTA	0.358																																					p.I506V		Atlas-SNP	.											.	FER1L6	268	.	0			c.A1516G						.						94.0	89.0	91.0					8																	124998413		1841	4097	5938	SO:0001583	missense	654463	exon12			GTTTCTATTGGTA	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1516A>G	chr8.hg19:g.124998413A>G	ENSP00000428280:p.Ile506Val	72.0	0.0		60.0	19.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	8.759	0.923251	0.18056	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83914	-1.78;-1.78	5.47	0.662	0.17880	.	0.465278	0.18775	N	0.131510	T	0.63129	0.2485	N	0.11106	0.095	0.26714	N	0.970916	B	0.06786	0.001	B	0.06405	0.002	T	0.54470	-0.8289	10	0.51188	T	0.08	.	5.5828	0.17258	0.3729:0.1656:0.4615:0.0	.	506	Q2WGJ9	FR1L6_HUMAN	V	506	ENSP00000428280:I506V;ENSP00000381982:I506V	ENSP00000381982:I506V	I	+	1	0	FER1L6	125067594	0.013000	0.17824	0.998000	0.56505	0.329000	0.28539	0.266000	0.18534	0.396000	0.25283	-0.250000	0.11733	ATT	.	.		0.358	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
ASAP1	50807	hgsc.bcm.edu	37	8	131130809	131130809	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:131130809T>A	ENST00000518721.1	-	19	1947	c.1720A>T	c.(1720-1722)Agg>Tgg	p.R574W	ASAP1_ENST00000357668.1_Missense_Mutation_p.R574W	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	574					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGTAAATCCCTGGATTTGATG	0.408																																					p.R574W		Atlas-SNP	.											.	ASAP1	133	.	0			c.A1720T						.						122.0	112.0	115.0					8																	131130809		2203	4300	6503	SO:0001583	missense	50807	exon19			AATCCCTGGATTT	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1720A>T	chr8.hg19:g.131130809T>A	ENSP00000429900:p.Arg574Trp	112.0	0.0		87.0	36.0	NM_018482	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	hg19	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.409669|4.409669	0.83340|0.83340	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.07567	.|3.18;3.18	5.86|5.86	-3.51|-3.51	0.04696|0.04696	.|Ankyrin repeat-containing domain (1);	.|0.097526	.|0.64402	.|D	.|0.000003	T|T	0.18299|0.18299	0.0439|0.0439	M|M	0.73598|0.73598	2.24|2.24	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D	.|0.65815	.|0.992;0.992;0.995	.|P;P;P	.|0.57502	.|0.668;0.668;0.822	T|T	0.00759|0.00759	-1.1578|-1.1578	5|10	.|0.87932	.|D	.|0	.|.	11.6756|11.6756	0.51427|0.51427	0.0:0.0606:0.552:0.3874|0.0:0.0606:0.552:0.3874	.|.	.|574;574;577	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	L|W	394|577;574;574	.|ENSP00000350297:R574W;ENSP00000429900:R574W	.|ENSP00000344591:R577W	Q|R	-|-	2|1	0|2	ASAP1|ASAP1	131199991|131199991	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.989000|0.989000	0.77384|0.77384	1.346000|1.346000	0.33964|0.33964	-0.847000|-0.847000	0.04168|0.04168	-0.313000|-0.313000	0.08912|0.08912	CAG|AGG	.	.		0.408	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
TRAPPC9	83696	hgsc.bcm.edu	37	8	140898164	140898164	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:140898164T>G	ENST00000438773.2	-	21	3147	c.3014A>C	c.(3013-3015)cAg>cCg	p.Q1005P	TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.Q1103P|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.Q996P	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1005					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGGACGAGCTGGTTCAGGAG	0.617																																					p.Q1103P		Atlas-SNP	.											.	TRAPPC9	114	.	0			c.A3308C						.						28.0	28.0	28.0					8																	140898164		2194	4290	6484	SO:0001583	missense	83696	exon21			ACGAGCTGGTTCA	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3014A>C	chr8.hg19:g.140898164T>G	ENSP00000405060:p.Gln1005Pro	257.0	1.0		208.0	101.0	NM_031466	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	hg19	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046822	0.55110	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.56	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	N	0.25890	0.77	0.58432	D	0.999997	B;D	0.65815	0.03;0.995	B;P	0.60541	0.034;0.876	T	0.42816	-0.9429	9	0.23891	T	0.37	.	9.6392	0.39828	0.0:0.0824:0.0:0.9176	.	1005;1103	Q96Q05;Q96Q05-2	TPPC9_HUMAN;.	P	1103;996;1005	.	ENSP00000373978:Q996P	Q	-	2	0	TRAPPC9	140967346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.258000	0.65479	0.946000	0.37632	0.533000	0.62120	CAG	.	.		0.617	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
DENND3	22898	hgsc.bcm.edu	37	8	142185462	142185462	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:142185462A>T	ENST00000262585.2	+	14	2477	c.2199A>T	c.(2197-2199)ctA>ctT	p.L733L	DENND3_ENST00000424248.1_Silent_p.L681L|DENND3_ENST00000519811.1_Silent_p.L813L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	733					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGACAAACCTAGGCGTTGGCA	0.517											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L733L		Atlas-SNP	.											.	DENND3	127	.	0			c.A2199T						.						139.0	122.0	128.0					8																	142185462		2203	4300	6503	SO:0001819	synonymous_variant	22898	exon14			AAACCTAGGCGTT	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2199A>T	chr8.hg19:g.142185462A>T		102.0	0.0	1669	76.0	32.0	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	hg19	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	A	0.978	-0.697952	0.03279	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.94	-3.91	0.04168	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43798	-0.9369	4	.	.	.	-3.4575	6.0063	0.19549	0.2211:0.2251:0.0:0.5538	.	.	.	.	W	738	.	.	R	+	1	2	DENND3	142254644	0.000000	0.05858	0.031000	0.17742	0.103000	0.19146	-1.513000	0.02256	-0.661000	0.05345	-0.619000	0.04042	AGG	.	.		0.517	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
DENND3	22898	hgsc.bcm.edu	37	8	142188201	142188201	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:142188201C>A	ENST00000262585.2	+	16	2780	c.2502C>A	c.(2500-2502)gtC>gtA	p.V834V	DENND3_ENST00000424248.1_Silent_p.V782V|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000519811.1_Silent_p.V914V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	834					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACCAACGTCTTGCTGATGG	0.507																																					p.V834V		Atlas-SNP	.											.	DENND3	127	.	0			c.C2502A						.						76.0	73.0	74.0					8																	142188201		2203	4300	6503	SO:0001819	synonymous_variant	22898	exon16			CAACGTCTTGCTG	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2502C>A	chr8.hg19:g.142188201C>A		51.0	0.0		38.0	25.0	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	hg19	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137701	0.09032	.	.	ENSG00000105339	ENST00000518668	.	.	.	4.93	-4.7	0.03288	.	.	.	.	.	T	0.28632	0.0709	.	.	.	0.30804	N	0.739516	.	.	.	.	.	.	T	0.41431	-0.9509	4	.	.	.	-33.3407	6.1993	0.20567	0.0:0.2515:0.3478:0.4007	.	.	.	.	I	839	.	.	L	+	1	0	DENND3	142257383	0.000000	0.05858	0.020000	0.16555	0.494000	0.33585	-0.531000	0.06171	-0.803000	0.04415	-0.176000	0.13171	CTT	.	.		0.507	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
TSNARE1	203062	hgsc.bcm.edu	37	8	143425368	143425368	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:143425368T>G	ENST00000307180.3	-	4	821	c.704A>C	c.(703-705)cAg>cCg	p.Q235P	TSNARE1_ENST00000520166.1_Missense_Mutation_p.Q235P|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000524325.1_Missense_Mutation_p.Q235P	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	235					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCAGGGCCTGGCAAGAGAA	0.687																																					p.Q235P		Atlas-SNP	.											.	TSNARE1	59	.	0			c.A704C						.						18.0	19.0	19.0					8																	143425368		2172	4252	6424	SO:0001583	missense	203062	exon4			AGGGCCTGGCAAG			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.704A>C	chr8.hg19:g.143425368T>G	ENSP00000303437:p.Gln235Pro	79.0	0.0		71.0	26.0	NM_145003	B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	hg19	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014735	0.35511	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.13778	2.56;2.56;2.56	3.91	-0.372	0.12520	.	0.524577	0.13937	N	0.352477	T	0.11324	0.0276	L	0.51422	1.61	0.23168	N	0.998186	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.25813	-1.0121	10	0.87932	D	0	-0.7868	4.622	0.12460	0.0:0.1118:0.3867:0.5015	.	235;235;235	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	P	235	ENSP00000428763:Q235P;ENSP00000303437:Q235P;ENSP00000427770:Q235P	ENSP00000303437:Q235P	Q	-	2	0	TSNARE1	143423275	0.043000	0.20138	0.902000	0.35471	0.889000	0.51656	0.014000	0.13333	-0.267000	0.09325	0.491000	0.48974	CAG	.	.		0.687	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
FAM83H	286077	hgsc.bcm.edu	37	8	144808647	144808647	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:144808647T>A	ENST00000388913.3	-	5	3109	c.2984A>T	c.(2983-2985)cAa>cTa	p.Q995L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	995					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTCGGGTTGGCCGTTCTC	0.701																																					p.Q995L		Atlas-SNP	.											.	FAM83H	68	.	0			c.A2984T						.						10.0	13.0	12.0					8																	144808647		1985	4132	6117	SO:0001583	missense	286077	exon5			TCGGGTTGGCCGT	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2984A>T	chr8.hg19:g.144808647T>A	ENSP00000373565:p.Gln995Leu	31.0	0.0		27.0	13.0	NM_198488	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	12.83	2.056334	0.36277	.	.	ENSG00000180921	ENST00000388913	T	0.16073	2.37	5.01	2.66	0.31614	.	0.615150	0.14087	U	0.342286	T	0.13543	0.0328	L	0.32530	0.975	0.30941	N	0.725833	P	0.47409	0.895	B	0.42030	0.373	T	0.09058	-1.0692	10	0.62326	D	0.03	.	8.099	0.30846	0.0:0.1669:0.0:0.8331	.	995	Q6ZRV2	FA83H_HUMAN	L	995	ENSP00000373565:Q995L	ENSP00000373565:Q995L	Q	-	2	0	FAM83H	144880635	1.000000	0.71417	0.996000	0.52242	0.093000	0.18481	3.691000	0.54720	0.772000	0.33382	0.450000	0.29827	CAA	.	.		0.701	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
SLC52A2	79581	hgsc.bcm.edu	37	8	145584307	145584307	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr8:145584307G>A	ENST00000532887.1	+	4	1642	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.L353L|SLC52A2_ENST00000527078.1_Silent_p.L353L|SLC52A2_ENST00000540505.1_Silent_p.L265L|SLC52A2_ENST00000402965.1_Silent_p.L353L|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.L353L|FBXL6_ENST00000331890.5_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	353					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GGGGCTACCTGATGGCGCTGG	0.697																																					p.L353L		Atlas-SNP	.											.	.	.	.	0			c.G1059A						.						59.0	67.0	64.0					8																	145584307		2203	4300	6503	SO:0001819	synonymous_variant	79581	exon4			CTACCTGATGGCG	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1059G>A	chr8.hg19:g.145584307G>A		18.0	0.0		18.0	10.0	NM_024531	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	hg19	CCDS6423.1																																																																																			.	.		0.697	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531	
RANBP6	26953	hgsc.bcm.edu	37	9	6012662	6012662	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:6012662T>A	ENST00000259569.5	-	1	2956	c.2946A>T	c.(2944-2946)tcA>tcT	p.S982S	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	982					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCCTATTGCTGAGATACAGT	0.363																																					p.S982S		Atlas-SNP	.											.	RANBP6	127	.	0			c.A2946T						.						112.0	105.0	107.0					9																	6012662		2203	4300	6503	SO:0001819	synonymous_variant	26953	exon1			TATTGCTGAGATA	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2946A>T	chr9.hg19:g.6012662T>A		171.0	0.0		77.0	8.0	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	hg19	CCDS6467.1																																																																																			.	.		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
KDM4C	23081	hgsc.bcm.edu	37	9	7046860	7046860	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:7046860A>T	ENST00000381309.3	+	16	2824		c.e16-1		KDM4C_ENST00000428870.2_Splice_Site|KDM4C_ENST00000536108.1_Splice_Site|KDM4C_ENST00000381306.3_Splice_Site|KDM4C_ENST00000442236.2_Splice_Site|KDM4C_ENST00000543771.1_Splice_Site|KDM4C_ENST00000535193.1_Splice_Site	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TTTTCCCCCCAGGAATGCTGT	0.333																																					.		Atlas-SNP	.											.	KDM4C	186	.	0			c.2326-2A>T						.						181.0	163.0	169.0					9																	7046860		2203	4300	6503	SO:0001630	splice_region_variant	23081	exon16			CCCCCCAGGAATG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2260-1A>T	chr9.hg19:g.7046860A>T		90.0	0.0		29.0	27.0	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Splice_Site	SNP	ENST00000381309.3	hg19	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751022	0.49257	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3102	0.74026	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM4C	7036860	1.000000	0.71417	0.942000	0.38095	0.488000	0.33401	6.494000	0.73661	2.270000	0.75569	0.533000	0.62120	.	.	.		0.333	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	Intron
PTPRD	5789	hgsc.bcm.edu	37	9	8486105	8486105	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:8486105C>T	ENST00000381196.4	-	25	3255	c.2712G>A	c.(2710-2712)ggG>ggA	p.G904G	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Silent_p.G904G|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Silent_p.G891G|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.G904G|PTPRD_ENST00000358503.5_Silent_p.G882G|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	904	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCATCTCCTCCCCAAAGCCCA	0.463										TSP Lung(15;0.13)																											p.G904G		Atlas-SNP	.											.	PTPRD	1348	.	0			c.G2712A						.						98.0	92.0	94.0					9																	8486105		2203	4300	6503	SO:0001819	synonymous_variant	5789	exon28			CTCCTCCCCAAAG	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2712G>A	chr9.hg19:g.8486105C>T		108.0	0.0		115.0	59.0	NM_002839	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	hg19	CCDS43786.1																																																																																			.	.		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
CER1	9350	hgsc.bcm.edu	37	9	14722169	14722169	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:14722169T>A	ENST00000380911.3	-	1	546	c.502A>T	c.(502-504)Agc>Tgc	p.S168C		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	168	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CATACCTGGCTGAAGGGCACT	0.542																																					p.S168C		Atlas-SNP	.											.	CER1	41	.	0			c.A502T						.						78.0	73.0	75.0					9																	14722169		2203	4300	6503	SO:0001583	missense	9350	exon1			CCTGGCTGAAGGG	AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.502A>T	chr9.hg19:g.14722169T>A	ENSP00000370297:p.Ser168Cys	72.0	0.0		67.0	31.0	NM_005454	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	hg19	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033387	0.54896	.	.	ENSG00000147869	ENST00000380911	T	0.32023	1.47	5.1	-0.366	0.12545	DAN (1);Cystine knot, C-terminal (2);	0.420625	0.25050	N	0.033529	T	0.36276	0.0961	L	0.59436	1.845	0.27829	N	0.941518	D	0.71674	0.998	P	0.61533	0.89	T	0.25433	-1.0132	10	0.66056	D	0.02	-5.0552	0.5754	0.00702	0.2095:0.2674:0.136:0.387	.	168	O95813	CER1_HUMAN	C	168	ENSP00000370297:S168C	ENSP00000370297:S168C	S	-	1	0	CER1	14712169	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	0.650000	0.24858	0.082000	0.17018	-0.313000	0.08912	AGC	.	.		0.542	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454	
SNAPC3	6619	hgsc.bcm.edu	37	9	15447091	15447091	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:15447091A>T	ENST00000380821.3	+	5	758		c.e5-1		SNAPC3_ENST00000380799.1_5'Flank	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TTTGACTTTTAGCACAAAGAA	0.353																																					.		Atlas-SNP	.											.	SNAPC3	28	.	0			c.583-2A>T						.						148.0	150.0	150.0					9																	15447091		2203	4300	6503	SO:0001630	splice_region_variant	6619	exon5			ACTTTTAGCACAA	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.583-1A>T	chr9.hg19:g.15447091A>T		121.0	0.0		132.0	57.0	NM_001039697	D3DRI8|Q2VPI6|Q5T285	Splice_Site	SNP	ENST00000380821.3	hg19	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.882884	0.51908	.	.	ENSG00000164975	ENST00000380821;ENST00000447670	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9966	0.80256	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAPC3	15437091	1.000000	0.71417	0.977000	0.42913	0.594000	0.36715	7.084000	0.76866	2.254000	0.74563	0.482000	0.46254	.	.	.		0.353	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	Intron
BNC2	54796	hgsc.bcm.edu	37	9	16437127	16437127	+	Silent	SNP	G	G	T	rs183551262		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:16437127G>T	ENST00000380672.4	-	6	1122	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	BNC2_ENST00000380666.2_Silent_p.P355P|BNC2_ENST00000380667.2_Silent_p.P288P|BNC2_ENST00000545497.1_Silent_p.P260P	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGAAAGGCTGGGTTCCCGCA	0.478																																					p.P355P		Atlas-SNP	.											.	BNC2	166	.	0			c.C1065A						.						101.0	104.0	103.0					9																	16437127		2203	4300	6503	SO:0001819	synonymous_variant	54796	exon6			AAGGCTGGGTTCC	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1065C>A	chr9.hg19:g.16437127G>T		110.0	0.0		110.0	38.0	NM_017637		Silent	SNP	ENST00000380672.4	hg19	CCDS6482.2																																																																																			.	G|1.000;A|0.000		0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
SH3GL2	6456	hgsc.bcm.edu	37	9	17793437	17793437	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:17793437T>A	ENST00000380607.4	+	8	921	c.801T>A	c.(799-801)acT>acA	p.T267T	SH3GL2_ENST00000537391.1_Silent_p.T220T	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	267					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGTTTCCAACTGGAGACAGTA	0.483																																					p.T267T		Atlas-SNP	.											.	SH3GL2	60	.	0			c.T801A						.						96.0	90.0	92.0					9																	17793437		2203	4300	6503	SO:0001819	synonymous_variant	6456	exon8			TCCAACTGGAGAC	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.801T>A	chr9.hg19:g.17793437T>A		135.0	0.0		121.0	61.0	NM_003026	B2R618|Q9NQK5	Silent	SNP	ENST00000380607.4	hg19	CCDS6483.1																																																																																			.	.		0.483	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18892464	18892464	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:18892464A>G	ENST00000380548.4	+	26	5060	c.4721A>G	c.(4720-4722)aAg>aGg	p.K1574R	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.K275R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1574	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCTGTCAAAAGCTGAAAGCC	0.612																																					p.K1574R		Atlas-SNP	.											.	ADAMTSL1	306	.	0			c.A4721G						.						27.0	30.0	29.0					9																	18892464		1932	4128	6060	SO:0001583	missense	92949	exon26			GTCAAAAGCTGAA	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4721A>G	chr9.hg19:g.18892464A>G	ENSP00000369921:p.Lys1574Arg	61.0	0.0		66.0	27.0	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	hg19	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069364	0.36470	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.54675	0.56;0.56	5.49	5.49	0.81192	.	0.196847	0.43747	D	0.000522	T	0.24967	0.0606	N	0.03608	-0.345	0.34704	D	0.727045	B;B	0.20671	0.047;0.031	B;B	0.23419	0.021;0.046	T	0.31052	-0.9957	10	0.02654	T	1	.	10.3218	0.43771	0.9171:0.0:0.0829:0.0	.	275;1574	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	R	1574;275;278	ENSP00000369921:K1574R;ENSP00000369918:K275R	ENSP00000325584:K278R	K	+	2	0	ADAMTSL1	18882464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.204000	0.51082	2.093000	0.63338	0.454000	0.30748	AAG	.	.		0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
MLLT3	4300	hgsc.bcm.edu	37	9	20413886	20413886	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:20413886A>T	ENST00000380338.4	-	5	1244	c.958T>A	c.(958-960)Tgt>Agt	p.C320S	MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.C317S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	320					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TCAGCAGAACAAGTGAGTATC	0.363			T	MLL	ALL																																p.C320S		Atlas-SNP	.		Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	.	MLLT3	125	.	0			c.T958A						.						124.0	124.0	124.0					9																	20413886		2203	4300	6503	SO:0001583	missense	4300	exon5			CAGAACAAGTGAG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.958T>A	chr9.hg19:g.20413886A>T	ENSP00000369695:p.Cys320Ser	126.0	0.0		104.0	48.0	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	hg19	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	A	3.928	-0.016688	0.07681	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	6.08	6.08	0.98989	.	0.173369	0.52532	D	0.000061	T	0.38321	0.1036	N	0.15975	0.35	0.80722	D	1	B;B	0.18461	0.028;0.028	B;B	0.14023	0.01;0.01	T	0.35101	-0.9802	9	0.02654	T	1	-10.0524	16.643	0.85134	1.0:0.0:0.0:0.0	.	317;320	B7Z755;P42568	.;AF9_HUMAN	S	320;317;359	.	ENSP00000369695:C320S	C	-	1	0	MLLT3	20403886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.607000	0.67648	2.330000	0.79161	0.533000	0.62120	TGT	.	.		0.363	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
IFNA16	3449	hgsc.bcm.edu	37	9	21217242	21217242	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:21217242A>G	ENST00000380216.1	-	1	68	c.63T>C	c.(61-63)tcT>tcC	p.S21S		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	21					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CACAGCCCAGAGAACAGATGG	0.507																																					p.S21S		Atlas-SNP	.											.	IFNA16	27	.	0			c.T63C						.						85.0	85.0	85.0					9																	21217242		2203	4300	6503	SO:0001819	synonymous_variant	3449	exon1			GCCCAGAGAACAG		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.63T>C	chr9.hg19:g.21217242A>G		192.0	0.0		233.0	61.0	NM_002173	Q5VV12	Silent	SNP	ENST00000380216.1	hg19	CCDS34996.1																																																																																			.	.		0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173	
IFNA5	3442	hgsc.bcm.edu	37	9	21305011	21305011	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:21305011T>G	ENST00000259555.4	-	1	301	c.245A>C	c.(244-246)gAg>gCg	p.E82A		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	82					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGATCATCTCATGGAGGAC	0.473																																					p.E82A		Atlas-SNP	.											.	IFNA5	21	.	0			c.A245C						.						125.0	116.0	119.0					9																	21305011		2203	4297	6500	SO:0001583	missense	3442	exon1			ATCATCTCATGGA		CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.245A>C	chr9.hg19:g.21305011T>G	ENSP00000259555:p.Glu82Ala	95.0	0.0		95.0	65.0	NM_002169	Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	hg19	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363005	0.41902	.	.	ENSG00000147873	ENST00000259555	T	0.04758	3.56	4.16	1.51	0.23008	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.127670	0.53938	D	0.000052	T	0.26122	0.0637	H	0.95745	3.715	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.09907	-1.0653	10	0.87932	D	0	.	7.6131	0.28142	0.4076:0.0:0.0:0.5924	.	82	P01569	IFNA5_HUMAN	A	82	ENSP00000259555:E82A	ENSP00000259555:E82A	E	-	2	0	IFNA5	21295011	0.000000	0.05858	0.013000	0.15412	0.001000	0.01503	0.283000	0.18846	0.048000	0.15891	-0.635000	0.03985	GAG	.	.		0.473	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169	
IFNA8	3445	hgsc.bcm.edu	37	9	21409216	21409216	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:21409216T>A	ENST00000380205.1	+	1	71	c.41T>A	c.(40-42)cTc>cAc	p.L14H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	14					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTAGTGGTGCTCAGCTACAAG	0.507																																					p.L14H		Atlas-SNP	.											.	IFNA8	19	.	0			c.T41A						.						153.0	146.0	148.0					9																	21409216		2203	4300	6503	SO:0001583	missense	3445	exon1			TGGTGCTCAGCTA		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.41T>A	chr9.hg19:g.21409216T>A	ENSP00000369553:p.Leu14His	47.0	0.0		70.0	34.0	NM_002170	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	hg19	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813561	0.32053	.	.	ENSG00000120242	ENST00000380205	T	0.04317	3.65	3.43	3.43	0.39272	.	0.094776	0.44688	D	0.000430	T	0.26738	0.0654	H	0.94658	3.565	0.28700	N	0.904144	D	0.89917	1.0	D	0.72338	0.977	T	0.20840	-1.0263	10	0.87932	D	0	.	9.7942	0.40724	0.0:0.0:0.0:1.0	.	14	P32881	IFNA8_HUMAN	H	14	ENSP00000369553:L14H	ENSP00000369553:L14H	L	+	2	0	IFNA8	21399216	0.002000	0.14202	0.981000	0.43875	0.061000	0.15899	1.285000	0.33261	1.560000	0.49568	0.459000	0.35465	CTC	.	.		0.507	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170	
UBAP2	55833	hgsc.bcm.edu	37	9	33953474	33953474	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:33953474T>C	ENST00000379238.1	-	12	984		c.e12-2		SNORD121A_ENST00000459386.1_RNA|UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000418786.2_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGATCAATGCTAAGCAGACAA	0.413																																					.		Atlas-SNP	.											.	UBAP2	82	.	0			c.867-2A>G						.						65.0	61.0	62.0					9																	33953474		2203	4300	6503	SO:0001630	splice_region_variant	55833	exon13			CAATGCTAAGCAG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.867-2A>G	chr9.hg19:g.33953474T>C		104.0	0.0		91.0	46.0	NM_018449		Splice_Site	SNP	ENST00000379238.1	hg19	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795860	0.50208	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9845	0.80142	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBAP2	33943474	1.000000	0.71417	0.997000	0.53966	0.571000	0.35966	6.103000	0.71492	2.230000	0.72887	0.413000	0.27773	.	.	.		0.413	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Intron
CA9	768	hgsc.bcm.edu	37	9	35674105	35674105	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:35674105G>T	ENST00000378357.4	+	1	253	c.149G>T	c.(148-150)gGa>gTa	p.G50V	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	50	Proteoglycan-like (PG).				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TCCCCCTTGGGAGGAGGCTCT	0.612																																					p.G50V		Atlas-SNP	.											.	CA9	48	.	0			c.G149T						.						53.0	51.0	52.0					9																	35674105		2203	4300	6503	SO:0001583	missense	768	exon1			CCTTGGGAGGAGG	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.149G>T	chr9.hg19:g.35674105G>T	ENSP00000367608:p.Gly50Val	58.0	0.0		75.0	38.0	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	hg19	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823561	0.16678	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.67698	-0.28	4.31	2.29	0.28610	.	2.578400	0.01317	N	0.010837	T	0.72020	0.3409	L	0.34521	1.04	0.58432	D	0.999996	D;D	0.61080	0.989;0.982	D;P	0.63957	0.92;0.834	T	0.64748	-0.6334	10	0.87932	D	0	.	5.1551	0.15031	0.2693:0.0:0.7307:0.0	.	50;50	F5H404;Q16790	.;CAH9_HUMAN	V	50	ENSP00000367608:G50V	ENSP00000367608:G50V	G	+	2	0	CA9	35664105	0.999000	0.42202	0.933000	0.37362	0.044000	0.14063	0.529000	0.23019	1.045000	0.40225	0.655000	0.94253	GGA	.	.		0.612	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
TLN1	7094	hgsc.bcm.edu	37	9	35724956	35724956	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:35724956C>A	ENST00000314888.9	-	4	582	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	TLN1_ENST00000540444.1_Splice_Site_p.D77Y	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCATAGTGTCCTGTTAGGGC	0.502																																					p.D77Y		Atlas-SNP	.											.	TLN1	185	.	0			c.G229T						.						162.0	148.0	153.0					9																	35724956		2203	4300	6503	SO:0001630	splice_region_variant	7094	exon4			TAGTGTCCTGTTA	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.229-1G>T	chr9.hg19:g.35724956C>A		86.0	0.0		62.0	21.0	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	hg19	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150242	0.78001	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.73047	-0.69;-0.71	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	M	0.90252	3.1	0.80722	D	1	P;D	0.89917	0.884;1.0	P;D	0.77557	0.596;0.99	D	0.88178	0.2869	10	0.49607	T	0.09	-24.0946	19.6771	0.95939	0.0:1.0:0.0:0.0	.	77;77	Q5TCU5;Q9Y490	.;TLN1_HUMAN	Y	77	ENSP00000316029:D77Y;ENSP00000442981:D77Y	ENSP00000316029:D77Y	D	-	1	0	TLN1	35714956	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	7.776000	0.85560	2.732000	0.93576	0.655000	0.94253	GAC	.	.		0.502	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation
GBA2	57704	hgsc.bcm.edu	37	9	35752015	35752015	+	5'Flank	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:35752015A>G	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Silent_p.A315A|RGP1_ENST00000378078.4_Silent_p.A275A|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank|GBA2_ENST00000378094.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACGTGGGGCAGGGGGTGTCC	0.577																																					p.A275A		Atlas-SNP	.											.	RGP1	60	.	0			c.A825G						.						82.0	84.0	83.0					9																	35752015		2095	4224	6319	SO:0001631	upstream_gene_variant	9827	exon8			TGGGGCAGGGGGT	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		chr9.hg19:g.35752015A>G	Exception_encountered	112.0	0.0		92.0	35.0	NM_001080496	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	hg19	CCDS6589.1																																																																																			.	.		0.577	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
OR2S2	56656	hgsc.bcm.edu	37	9	35957519	35957519	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:35957519T>C	ENST00000341959.2	-	1	632	c.577A>G	c.(577-579)Att>Gtt	p.I193V		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	193					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)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			TTGATGGAAATGTCAGCACAG	0.468																																					p.I193V	Pancreas(172;293 2036 17878 24427 30946)	Atlas-SNP	.											.	OR2S2	46	.	0			c.A577G						.						111.0	103.0	106.0					9																	35957519		2203	4300	6503	SO:0001583	missense	56656	exon1			TGGAAATGTCAGC	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.577A>G	chr9.hg19:g.35957519T>C	ENSP00000344040:p.Ile193Val	86.0	0.0		79.0	45.0	NM_019897	Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	hg19	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261797	0.23051	.	.	ENSG00000122718	ENST00000341959	T	0.00107	8.72	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000091	T	0.00241	0.0007	L	0.58669	1.825	0.09310	N	1	B	0.33612	0.419	B	0.41691	0.364	T	0.34329	-0.9833	10	0.51188	T	0.08	.	11.8394	0.52344	0.0:0.0:0.0:1.0	.	193	Q9NQN1	OR2S1_HUMAN	V	193	ENSP00000344040:I193V	ENSP00000344040:I193V	I	-	1	0	OR2S2	35947519	0.078000	0.21339	1.000000	0.80357	0.056000	0.15407	0.792000	0.26929	2.106000	0.64143	0.533000	0.62120	ATT	.	.		0.468	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897	
TMEM252	169693	hgsc.bcm.edu	37	9	71155621	71155621	+	Missense_Mutation	SNP	T	T	A	rs372500287		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:71155621T>A	ENST00000377311.3	-	1	162	c.110A>T	c.(109-111)cAg>cTg	p.Q37L	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	37						integral component of membrane (GO:0016021)											CAGGCTCCCCTGACAGTCGAA	0.527																																					p.Q37L		Atlas-SNP	.											.	.	.	.	0			c.A110T						.						60.0	58.0	59.0					9																	71155621		2203	4300	6503	SO:0001583	missense	169693	exon1			CTCCCCTGACAGT	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.110A>T	chr9.hg19:g.71155621T>A	ENSP00000366528:p.Gln37Leu	114.0	0.0		168.0	57.0	NM_153237		Missense_Mutation	SNP	ENST00000377311.3	hg19	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	T	5.938	0.357014	0.11239	.	.	ENSG00000181778	ENST00000377311	.	.	.	6.02	-2.76	0.05896	.	1.908140	0.01975	N	0.044404	T	0.33265	0.0857	L	0.47716	1.5	0.09310	N	1	B	0.32467	0.372	B	0.24394	0.053	T	0.21280	-1.0250	9	0.52906	T	0.07	2.0559	6.4752	0.22031	0.0:0.262:0.2315:0.5065	.	37	Q8N6L7	CI071_HUMAN	L	37	.	ENSP00000366528:Q37L	Q	-	2	0	C9orf71	70345441	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.009000	0.12765	-0.878000	0.04007	-0.912000	0.02778	CAG	.	.		0.527	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237	
TRPM6	140803	hgsc.bcm.edu	37	9	77418778	77418778	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:77418778T>C	ENST00000360774.1	-	15	1900	c.1663A>G	c.(1663-1665)Aga>Gga	p.R555G	TRPM6_ENST00000361255.3_Missense_Mutation_p.R550G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.R555G|TRPM6_ENST00000449912.2_Missense_Mutation_p.R550G|TRPM6_ENST00000376864.4_Missense_Mutation_p.R555G|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	555					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GACTCATTTCTATTTCCTGAG	0.388																																					p.R555G		Atlas-SNP	.											.	TRPM6	377	.	0			c.A1663G						.						165.0	161.0	163.0					9																	77418778		2203	4300	6503	SO:0001583	missense	140803	exon15			CATTTCTATTTCC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1663A>G	chr9.hg19:g.77418778T>C	ENSP00000354006:p.Arg555Gly	71.0	0.0		95.0	31.0	NM_017662	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	hg19	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	9.289	1.050122	0.19827	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.51	1.46	0.22682	.	0.649355	0.15741	N	0.246924	T	0.68988	0.3061	M	0.67953	2.075	0.09310	N	1	P;P	0.43973	0.729;0.823	B;B	0.40565	0.25;0.333	T	0.61826	-0.6983	10	0.87932	D	0	.	7.4799	0.27398	0.0:0.144:0.3015:0.5545	.	555;550	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	G	555;555;550;550;555;218;218	ENSP00000354006:R555G;ENSP00000407341:R555G;ENSP00000396672:R550G;ENSP00000354962:R550G;ENSP00000366060:R555G	ENSP00000309693:R218G	R	-	1	2	TRPM6	76608598	0.001000	0.12720	0.003000	0.11579	0.058000	0.15608	0.859000	0.27858	0.368000	0.24481	0.460000	0.39030	AGA	.	.		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PRUNE2	158471	hgsc.bcm.edu	37	9	79324425	79324425	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:79324425A>G	ENST00000376718.3	-	8	2888	c.2765T>C	c.(2764-2766)tTt>tCt	p.F922S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F563S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	922					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTCCTCAAAAAGGTTCCA	0.398																																					p.F922S		Atlas-SNP	.											.	PRUNE2	331	.	0			c.T2765C						.						229.0	216.0	220.0					9																	79324425		1568	3582	5150	SO:0001583	missense	158471	exon8			TCCTCAAAAAGGT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2765T>C	chr9.hg19:g.79324425A>G	ENSP00000365908:p.Phe922Ser	138.0	0.0		170.0	41.0	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069747	0.36470	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.53206	0.63;0.65	5.83	4.65	0.58169	.	0.127954	0.36409	N	0.002614	T	0.46776	0.1410	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	T	0.49476	-0.8936	10	0.87932	D	0	-17.908	6.2135	0.20642	0.7184:0.0:0.0845:0.1971	.	922	Q8WUY3	PRUN2_HUMAN	S	922;563;921	ENSP00000365908:F922S;ENSP00000397425:F563S	ENSP00000365908:F922S	F	-	2	0	PRUNE2	78514245	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	1.530000	0.36007	2.226000	0.72624	0.459000	0.35465	TTT	.	.		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
KIF27	55582	hgsc.bcm.edu	37	9	86495242	86495242	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:86495242T>A	ENST00000297814.2	-	11	2756	c.2613A>T	c.(2611-2613)gcA>gcT	p.A871A	KIF27_ENST00000376347.1_Silent_p.A262A|KIF27_ENST00000334204.2_Silent_p.A871A|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	871					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GCTTAATTACTGCATCCAGTT	0.353																																					p.A871A		Atlas-SNP	.											.	KIF27	103	.	0			c.A2613T						.						128.0	105.0	113.0					9																	86495242		2203	4300	6503	SO:0001819	synonymous_variant	55582	exon11			AATTACTGCATCC	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2613A>T	chr9.hg19:g.86495242T>A		72.0	0.0		66.0	18.0	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	hg19	CCDS6665.1																																																																																			.	.		0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
NTRK2	4915	hgsc.bcm.edu	37	9	87325598	87325598	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:87325598A>T	ENST00000323115.4	+	5	828	c.475A>T	c.(475-477)Atc>Ttc	p.I159F	NTRK2_ENST00000395882.1_Missense_Mutation_p.I159F|NTRK2_ENST00000304053.6_Missense_Mutation_p.I159F|NTRK2_ENST00000376213.1_Missense_Mutation_p.I159F|NTRK2_ENST00000395866.2_Missense_Mutation_p.I3F|NTRK2_ENST00000277120.3_Missense_Mutation_p.I159F|NTRK2_ENST00000376214.1_Missense_Mutation_p.I159F|NTRK2_ENST00000376208.1_Missense_Mutation_p.I159F|NTRK2_ENST00000359847.3_Missense_Mutation_p.I159F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	159	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CATTATGTGGATCAAGACTCT	0.438										TSP Lung(25;0.17)																											p.I159F		Atlas-SNP	.											.	NTRK2	331	.	0			c.A475T						.						137.0	121.0	126.0					9																	87325598		2203	4300	6503	SO:0001583	missense	4915	exon6			ATGTGGATCAAGA	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.475A>T	chr9.hg19:g.87325598A>T	ENSP00000314586:p.Ile159Phe	119.0	0.0		172.0	157.0	NM_001018065	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	hg19	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805748	0.50421	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;D;D;D;D;D;D;T	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-0.7	5.77	2.01	0.26516	Cysteine-rich flanking region, C-terminal (1);	0.111372	0.64402	D	0.000013	D	0.87605	0.6219	L	0.41710	1.295	0.42338	D	0.992325	P;P;P;P;B;P;P;P	0.44986	0.52;0.686;0.847;0.558;0.164;0.55;0.734;0.686	B;P;P;P;B;B;B;P	0.55222	0.221;0.771;0.771;0.594;0.224;0.35;0.319;0.771	D	0.84940	0.0865	10	0.87932	D	0	.	5.6543	0.17635	0.5726:0.2835:0.1439:0.0	.	3;159;159;159;159;159;205;159	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	F	159;159;159;159;159;159;159;159;3	ENSP00000365387:I159F;ENSP00000365386:I159F;ENSP00000379221:I159F;ENSP00000365381:I159F;ENSP00000306167:I159F;ENSP00000277120:I159F;ENSP00000314586:I159F;ENSP00000352906:I159F;ENSP00000379207:I3F	ENSP00000277120:I159F	I	+	1	0	NTRK2	86515418	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.484000	0.35508	0.431000	0.26258	-0.472000	0.04984	ATC	.	.		0.438	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
C9orf153	389766	hgsc.bcm.edu	37	9	88842778	88842778	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:88842778A>T	ENST00000376001.3	-	3	314	c.234T>A	c.(232-234)ccT>ccA	p.P78P	C9orf153_ENST00000339137.3_Silent_p.P78P|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	78										breast(1)|lung(1)	2						ACCTGATAACAGGTTGGAGAT	0.483																																					p.P78P		Atlas-SNP	.											.	C9orf153	10	.	0			c.T234A						.						198.0	158.0	172.0					9																	88842778		2203	4300	6503	SO:0001819	synonymous_variant	389766	exon4			GATAACAGGTTGG		CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.234T>A	chr9.hg19:g.88842778A>T		97.0	0.0		99.0	43.0	NM_001276368	Q5TBE4	Silent	SNP	ENST00000376001.3	hg19	CCDS35055.1																																																																																			.	.		0.483	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907	
SPATA31E1	286234	hgsc.bcm.edu	37	9	90501957	90501957	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:90501957T>C	ENST00000325643.5	+	4	2621	c.2555T>C	c.(2554-2556)cTc>cCc	p.L852P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	852					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTACAGACCTCCAGTCCCTG	0.577																																					p.L852P		Atlas-SNP	.											.	.	.	.	0			c.T2555C						.						47.0	45.0	45.0					9																	90501957		2203	4300	6503	SO:0001583	missense	286234	exon4			CAGACCTCCAGTC	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2555T>C	chr9.hg19:g.90501957T>C	ENSP00000322640:p.Leu852Pro	79.0	0.0		63.0	21.0	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	hg19	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	11.03	1.519447	0.27211	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06068	3.35	2.57	-0.148	0.13424	.	1.489590	0.04472	N	0.376278	T	0.13457	0.0326	L	0.41573	1.285	0.09310	N	0.999999	D;D	0.71674	0.998;0.994	D;P	0.65443	0.935;0.737	T	0.17992	-1.0351	10	0.51188	T	0.08	.	3.0452	0.06151	0.248:0.0:0.2551:0.4969	.	852;504	Q6ZUB1;Q8NA33	CI079_HUMAN;.	P	852;504	ENSP00000322640:L852P	ENSP00000322640:L852P	L	+	2	0	C9orf79	89691777	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.016000	0.13377	-0.032000	0.13758	0.455000	0.32223	CTC	.	.		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
SEMA4D	10507	hgsc.bcm.edu	37	9	92002518	92002518	+	Missense_Mutation	SNP	G	G	C	rs549309784	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:92002518G>C	ENST00000450295.1	-	12	1889	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	SEMA4D_ENST00000422704.2_Missense_Mutation_p.I371M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.I371M|SEMA4D_ENST00000339861.4_Missense_Mutation_p.I371M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.I371M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.I371M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.I371M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.I371M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCGCTGTCGATGCACTGCA	0.572																																					p.I371M		Atlas-SNP	.											SEMA4D,NS,NS,0,1	SEMA4D	81	.	0			c.C1113G						.						105.0	110.0	108.0					9																	92002518		2203	4300	6503	SO:0001583	missense	10507	exon14			GCTGTCGATGCAC	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1113C>G	chr9.hg19:g.92002518G>C	ENSP00000416523:p.Ile371Met	94.0	0.0		83.0	10.0	NM_006378	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	hg19	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711373	0.30322	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.36	2.58	0.30949	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.043708	0.85682	D	0.000000	T	0.53384	0.1793	M	0.88031	2.925	0.43250	D	0.995179	D;D	0.71674	0.998;0.998	D;D	0.74348	0.981;0.983	T	0.51585	-0.8687	10	0.87932	D	0	.	4.0333	0.09719	0.3202:0.0:0.4883:0.1915	.	371;371	Q92854-2;Q92854	.;SEM4D_HUMAN	M	371	ENSP00000344923:I371M;ENSP00000391733:I371M;ENSP00000411981:I371M;ENSP00000343418:I371M;ENSP00000416523:I371M;ENSP00000405102:I371M;ENSP00000348822:I371M;ENSP00000388768:I371M	ENSP00000344923:I371M	I	-	3	3	SEMA4D	91192338	1.000000	0.71417	0.937000	0.37676	0.020000	0.10135	0.924000	0.28777	0.414000	0.25790	-0.768000	0.03414	ATC	.	.		0.572	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
ROR2	4920	hgsc.bcm.edu	37	9	94488970	94488970	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:94488970T>A	ENST00000375708.3	-	8	1437	c.1239A>T	c.(1237-1239)gcA>gcT	p.A413A	ROR2_ENST00000375715.1_Silent_p.A273A|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	413					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGTGGAATTGCGATGCTGG	0.512																																					p.A413A		Atlas-SNP	.											.	ROR2	167	.	0			c.A1239T						.						113.0	98.0	103.0					9																	94488970		2203	4300	6503	SO:0001819	synonymous_variant	4920	exon8			TGGAATTGCGATG	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1239A>T	chr9.hg19:g.94488970T>A		71.0	0.0		57.0	25.0	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	hg19	CCDS6691.1																																																																																			.	.		0.512	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
WNK2	65268	hgsc.bcm.edu	37	9	96051121	96051121	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:96051121T>A	ENST00000297954.4	+	20	4196	c.4196T>A	c.(4195-4197)cTa>cAa	p.L1399Q	WNK2_ENST00000349097.3_Missense_Mutation_p.L1011Q|WNK2_ENST00000427277.2_Missense_Mutation_p.L974Q|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.L1362Q|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1399					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCAGCTTTCTAGCCAGTCAG	0.597																																					p.L1362Q		Atlas-SNP	.											.	WNK2	277	.	0			c.T4085A						.						14.0	16.0	15.0					9																	96051121		2190	4260	6450	SO:0001583	missense	65268	exon19			GCTTTCTAGCCAG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4196T>A	chr9.hg19:g.96051121T>A	ENSP00000297954:p.Leu1399Gln	199.0	0.0		161.0	58.0	NM_006648	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.59|11.59	1.685315|1.685315	0.29872|0.29872	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|.	0.35789|.	1.29;1.29;1.29;1.29|.	5.83|5.83	-4.59|-4.59	0.03400|0.03400	.|.	1.418270|.	0.03859|.	N|.	0.273667|.	T|.	0.30854|.	0.0778|.	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	D;P;D;D|.	0.76494|.	0.998;0.744;0.999;0.974|.	P;B;D;P|.	0.67548|.	0.897;0.23;0.952;0.521|.	T|.	0.40608|.	-0.9554|.	10|.	0.18276|.	T|.	0.48|.	.|.	7.351|7.351	0.26691|0.26691	0.1196:0.2624:0.0:0.618|0.1196:0.2624:0.0:0.618	.|.	1362;965;1362;1399|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	Q|K	1399;1362;1011;974|1358;159	ENSP00000297954:L1399Q;ENSP00000378860:L1362Q;ENSP00000297876:L1011Q;ENSP00000411181:L974Q|.	ENSP00000297954:L1399Q|.	L|X	+|+	2|1	0|0	WNK2|WNK2	95090942|95090942	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.644000|-0.644000	0.05415|0.05415	-0.403000|-0.403000	0.07622|0.07622	-0.388000|-0.388000	0.06559|0.06559	CTA|TAG	.	.		0.597	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
C9orf3	84909	hgsc.bcm.edu	37	9	97522798	97522798	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:97522798A>T	ENST00000375315.2	+	1	733	c.733A>T	c.(733-735)Agg>Tgg	p.R245W	C9orf3_ENST00000297979.5_Missense_Mutation_p.R245W|C9orf3_ENST00000277198.2_Missense_Mutation_p.R245W	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	245					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TCATGCTATCAGGATATGGTA	0.512																																					p.R245W		Atlas-SNP	.											.	C9orf3	100	.	0			c.A733T						.						63.0	57.0	59.0					9																	97522798		2203	4300	6503	SO:0001583	missense	84909	exon2			GCTATCAGGATAT	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.733A>T	chr9.hg19:g.97522798A>T	ENSP00000364464:p.Arg245Trp	54.0	0.0		60.0	22.0	NM_001193331	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	hg19	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573358	0.65765	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.04862	4.14;4.14;4.14;3.54;4.14;3.54	4.79	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.00383	-1.1774	10	0.87932	D	0	-17.1585	12.0019	0.53235	0.8551:0.1449:0.0:0.0	.	245;245;245;245	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	W	245;245;245;119;68;27	ENSP00000277198:R245W;ENSP00000297979:R245W;ENSP00000364464:R245W;ENSP00000387736:R119W;ENSP00000402171:R68W;ENSP00000401854:R27W	ENSP00000277198:R245W	R	+	1	2	C9orf3	96562619	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.715000	0.74697	0.941000	0.37499	0.383000	0.25322	AGG	.	.		0.512	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823	
HABP4	22927	hgsc.bcm.edu	37	9	99250387	99250387	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:99250387A>G	ENST00000375249.4	+	7	1091	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.Y234C	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AAAGATGACTATGAGGACGAT	0.498																																					p.Y339C		Atlas-SNP	.											.	HABP4	25	.	0			c.A1016G						.						177.0	158.0	165.0					9																	99250387		2203	4300	6503	SO:0001583	missense	22927	exon7			ATGACTATGAGGA	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.1016A>G	chr9.hg19:g.99250387A>G	ENSP00000364398:p.Tyr339Cys	76.0	0.0		67.0	22.0	NM_014282		Missense_Mutation	SNP	ENST00000375249.4	hg19	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	A	7.557	0.664000	0.14710	.	.	ENSG00000130956	ENST00000375251;ENST00000375249	T;T	0.46063	0.88;0.88	5.08	0.158	0.14942	.	1.139140	0.06144	N	0.672914	T	0.27489	0.0675	N	0.22421	0.69	0.23953	N	0.996365	B;B	0.20550	0.046;0.026	B;B	0.22386	0.039;0.007	T	0.25779	-1.0122	10	0.38643	T	0.18	0.353	4.3263	0.11041	0.4726:0.0:0.342:0.1854	.	234;339	Q5JVS0-2;Q5JVS0	.;HABP4_HUMAN	C	234;339	ENSP00000364400:Y234C;ENSP00000364398:Y339C	ENSP00000364398:Y339C	Y	+	2	0	HABP4	98290208	0.165000	0.22948	0.868000	0.34077	0.392000	0.30506	0.473000	0.22132	-0.056000	0.13221	0.528000	0.53228	TAT	.	.		0.498	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282	
CDC14B	8555	hgsc.bcm.edu	37	9	99286009	99286009	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:99286009T>C	ENST00000375241.1	-	10	1398		c.e10-2		CDC14B_ENST00000375236.1_Splice_Site|CDC14B_ENST00000463569.1_Splice_Site|CDC14B_ENST00000375242.3_Splice_Site|CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000265659.2_Splice_Site|CDC14B_ENST00000375240.3_Splice_Site	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B						activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAAGGCCAGCTAGGAAAATAA	0.478																																					.		Atlas-SNP	.											.	CDC14B	64	.	0			c.836-2A>G						.						37.0	34.0	35.0					9																	99286009		2203	4300	6503	SO:0001630	splice_region_variant	8555	exon11			GCCAGCTAGGAAA	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.947-2A>G	chr9.hg19:g.99286009T>C		188.0	0.0		153.0	134.0	NM_001077181	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Splice_Site	SNP	ENST00000375241.1	hg19	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758761	0.69763	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7739	0.78193	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDC14B	98325830	1.000000	0.71417	0.965000	0.40720	0.720000	0.41350	7.825000	0.86693	2.367000	0.80283	0.528000	0.53228	.	.	.		0.478	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	Intron
HEMGN	55363	hgsc.bcm.edu	37	9	100698475	100698475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:100698475C>A	ENST00000259456.3	-	3	294	c.151G>T	c.(151-153)Gaa>Taa	p.E51*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	51	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGTGATGTTTCCTTTTCATGC	0.343																																					p.E51X		Atlas-SNP	.											HEMGN,NS,malignant_melanoma,0,1	HEMGN	55	.	0			c.G151T						.						300.0	250.0	267.0					9																	100698475		2201	4300	6501	SO:0001587	stop_gained	55363	exon2			ATGTTTCCTTTTC	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.151G>T	chr9.hg19:g.100698475C>A	ENSP00000259456:p.Glu51*	151.0	0.0		67.0	21.0	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Nonsense_Mutation	SNP	ENST00000259456.3	hg19	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578626	0.65878	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.63	2.39	0.29439	.	0.224869	0.36268	N	0.002696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.932	14.1732	0.65525	0.0:0.6193:0.3807:0.0	.	.	.	.	X	51	.	ENSP00000259456:E51X	E	-	1	0	HEMGN	99738296	0.371000	0.25056	0.246000	0.24233	0.018000	0.09664	0.481000	0.22260	0.791000	0.33826	-0.211000	0.12701	GAA	.	.		0.343	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
NR4A3	8013	hgsc.bcm.edu	37	9	102590707	102590707	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:102590707T>A	ENST00000395097.2	+	3	1112	c.383T>A	c.(382-384)cTg>cAg	p.L128Q	NR4A3_ENST00000330847.1_Missense_Mutation_p.L139Q|NR4A3_ENST00000338488.4_Missense_Mutation_p.L128Q	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	128					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GACGAGGTGCTGCCCAGCACC	0.667			T	EWSR1	extraskeletal myxoid chondrosarcoma																																p.L139Q		Atlas-SNP	.		Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	.	NR4A3	80	.	0			c.T416A						.						38.0	43.0	41.0					9																	102590707		2203	4296	6499	SO:0001583	missense	8013	exon4			AGGTGCTGCCCAG	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.383T>A	chr9.hg19:g.102590707T>A	ENSP00000378531:p.Leu128Gln	37.0	0.0		19.0	14.0	NM_173200	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	hg19	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103365	0.56291	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.91577	-2.87;-2.45;-2.86	4.68	4.68	0.58851	.	2.050020	0.01617	N	0.022824	D	0.90497	0.7023	L	0.39898	1.24	0.34200	D	0.673047	P;P;P	0.47677	0.828;0.736;0.899	B;B;P	0.51355	0.299;0.221;0.667	T	0.80686	-0.1272	10	0.13470	T	0.59	.	9.1733	0.37096	0.0:0.0817:0.0:0.9183	.	139;128;128	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	Q	128;128;139	ENSP00000378531:L128Q;ENSP00000340301:L128Q;ENSP00000333122:L139Q	ENSP00000333122:L139Q	L	+	2	0	NR4A3	101630528	1.000000	0.71417	0.998000	0.56505	0.681000	0.39784	5.987000	0.70571	2.091000	0.63221	0.455000	0.32223	CTG	.	.		0.667	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1		
CYLC2	1539	hgsc.bcm.edu	37	9	105767379	105767380	+	Missense_Mutation	DNP	GA	GA	TC			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:105767379_105767380GA>TC	ENST00000374798.3	+	5	536_537	c.466_467GA>TC	c.(466-468)GAt>TCt	p.D156S	CYLC2_ENST00000487798.1_Missense_Mutation_p.D156S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	156	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.D156Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				agaaaagctagatgcaaagaaa	0.356																																					p.D156Y|p.D156A		Atlas-SNP	.											CYLC2,right_upper_lobe,carcinoma,0,1|.	CYLC2	109	.	1	Substitution - Missense(1)	lung(1)	c.G466T|c.A467C						.																																			SO:0001583	missense	1539	exon5			AAGCTAGATGCAA|AGCTAGATGCAAA	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	Exception_encountered	chr9.hg19:g.105767379_105767380delinsTC	ENSP00000420256:p.Asp156Ser	135.0|134.0	0.0		71.0	59.0|9.0	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	hg19	CCDS35085.1																																																																																			.	.		0.356	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
ABCA1	19	hgsc.bcm.edu	37	9	107620923	107620923	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:107620923T>A	ENST00000374736.3	-	7	994	c.600A>T	c.(598-600)tcA>tcT	p.S200S	ABCA1_ENST00000423487.2_Silent_p.S200S	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	200					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCATCTCTTCTGATTTTGATC	0.438																																					p.S200S		Atlas-SNP	.											.	ABCA1	244	.	0			c.A600T						.						144.0	138.0	140.0					9																	107620923		2203	4300	6503	SO:0001819	synonymous_variant	19	exon7			CTCTTCTGATTTT	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.600A>T	chr9.hg19:g.107620923T>A		139.0	0.0		81.0	70.0	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	hg19	CCDS6762.1																																																																																			.	.		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
AKNA	80709	hgsc.bcm.edu	37	9	117106039	117106039	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:117106039T>C	ENST00000307564.4	-	19	3867	c.3706A>G	c.(3706-3708)Aat>Gat	p.N1236D	AKNA_ENST00000223791.3_Missense_Mutation_p.N696D|AKNA_ENST00000374079.4_Missense_Mutation_p.N181D|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.N1236D|AKNA_ENST00000374075.5_Missense_Mutation_p.N1155D	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1236					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACTGTGCCATTGCCTTTTGGG	0.562																																					p.N1236D		Atlas-SNP	.											.	AKNA	119	.	0			c.A3706G						.						94.0	90.0	92.0					9																	117106039		2203	4300	6503	SO:0001583	missense	80709	exon19			TGCCATTGCCTTT	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3706A>G	chr9.hg19:g.117106039T>C	ENSP00000303769:p.Asn1236Asp	113.0	0.0		63.0	44.0	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	hg19	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	T	2.751	-0.259983	0.05791	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.17528	2.74;2.27;2.74;2.52;2.74	4.06	-4.01	0.04045	.	1.767010	0.02524	N	0.092823	T	0.13713	0.0332	L	0.40543	1.245	0.09310	N	1	B;B	0.27732	0.118;0.187	B;B	0.27500	0.037;0.08	T	0.22208	-1.0223	10	0.22109	T	0.4	1.2622	7.576	0.27937	0.0:0.5661:0.1658:0.2681	.	1236;1155	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	D	1236;181;1236;696;1155	ENSP00000303769:N1236D;ENSP00000363192:N181D;ENSP00000363201:N1236D;ENSP00000223791:N696D;ENSP00000363188:N1155D	ENSP00000223791:N696D	N	-	1	0	AKNA	116145860	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.148000	0.10219	-0.816000	0.04340	0.529000	0.55759	AAT	.	.		0.562	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
AKNA	80709	hgsc.bcm.edu	37	9	117118383	117118383	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:117118383T>A	ENST00000307564.4	-	14	3041	c.2880A>T	c.(2878-2880)gcA>gcT	p.A960A	AKNA_ENST00000223791.3_Silent_p.A420A|AKNA_ENST00000374088.3_Silent_p.A960A|AKNA_ENST00000374075.5_Silent_p.A879A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	960					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGGCACAGATGCAGCAAAGG	0.612																																					p.A960A		Atlas-SNP	.											.	AKNA	119	.	0			c.A2880T						.						76.0	75.0	75.0					9																	117118383		2203	4300	6503	SO:0001819	synonymous_variant	80709	exon14			CACAGATGCAGCA	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2880A>T	chr9.hg19:g.117118383T>A		75.0	0.0		30.0	21.0	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	hg19	CCDS6805.1																																																																																			.	.		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
DAB2IP	153090	hgsc.bcm.edu	37	9	124522473	124522473	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:124522473A>C	ENST00000408936.3	+	6	1107	c.925A>C	c.(925-927)Aag>Cag	p.K309Q	DAB2IP_ENST00000259371.2_Missense_Mutation_p.K281Q|DAB2IP_ENST00000309989.1_Missense_Mutation_p.K185Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	309					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTTCGTGGAGAAGTGGTACCC	0.632																																					p.K281Q		Atlas-SNP	.											.	DAB2IP	150	.	0			c.A841C						.						65.0	58.0	61.0					9																	124522473		2203	4300	6503	SO:0001583	missense	153090	exon6			GTGGAGAAGTGGT	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.925A>C	chr9.hg19:g.124522473A>C	ENSP00000386183:p.Lys309Gln	60.0	0.0		27.0	22.0	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	hg19		.	.	.	.	.	.	.	.	.	.	A	17.78	3.472510	0.63737	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T;T;T	0.78003	-1.14;-0.47;-0.47;-0.47;-0.47;-0.47	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	L	0.36672	1.1	0.58432	D	0.999999	P	0.45240	0.854	P	0.47573	0.55	T	0.71020	-0.4713	10	0.25751	T	0.34	.	13.6859	0.62515	1.0:0.0:0.0:0.0	.	281	G3XA90	.	Q	281;185;281;309;218;185	ENSP00000377872:K281Q;ENSP00000409327:K185Q;ENSP00000259371:K281Q;ENSP00000386183:K309Q;ENSP00000362887:K218Q;ENSP00000310827:K185Q	ENSP00000259371:K281Q	K	+	1	0	DAB2IP	123562294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.172000	0.65003	1.888000	0.54679	0.459000	0.35465	AAG	.	.		0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
OR1L3	26735	hgsc.bcm.edu	37	9	125437543	125437543	+	Silent	SNP	C	C	T	rs367667552		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:125437543C>T	ENST00000304820.2	+	1	229	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ATCTGCTCATCATCTTGGCTA	0.433																																					p.I45I		Atlas-SNP	.											.	OR1L3	51	.	0			c.C135T						.						144.0	140.0	142.0					9																	125437543		2203	4300	6503	SO:0001819	synonymous_variant	26735	exon1			GCTCATCATCTTG		CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.135C>T	chr9.hg19:g.125437543C>T		114.0	0.0		47.0	42.0	NM_001005234	B2RNF4|Q6IFN1	Silent	SNP	ENST00000304820.2	hg19	CCDS35128.1																																																																																			.	.		0.433	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1		
RABGAP1	23637	hgsc.bcm.edu	37	9	125782674	125782674	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:125782674A>T	ENST00000373647.4	+	13	1864	c.1730A>T	c.(1729-1731)cAg>cTg	p.Q577L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	577	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GAAGTCTGGCAGCTGCTAGCA	0.453																																					p.Q577L		Atlas-SNP	.											.	RABGAP1	164	.	0			c.A1730T						.						94.0	89.0	91.0					9																	125782674		2203	4300	6503	SO:0001583	missense	23637	exon13			TCTGGCAGCTGCT	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1730A>T	chr9.hg19:g.125782674A>T	ENSP00000362751:p.Gln577Leu	59.0	0.0		27.0	23.0	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	hg19	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866514	0.91511	.	.	ENSG00000011454	ENST00000373647	T	0.77229	-1.08	5.66	5.66	0.87406	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.69824	0.966	D	0.84317	0.0514	10	0.54805	T	0.06	-15.631	15.8951	0.79326	1.0:0.0:0.0:0.0	.	577	Q9Y3P9	RBGP1_HUMAN	L	577	ENSP00000362751:Q577L	ENSP00000362751:Q577L	Q	+	2	0	RABGAP1	124822495	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	8.932000	0.92897	2.147000	0.66899	0.533000	0.62120	CAG	.	.		0.453	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
LHX2	9355	hgsc.bcm.edu	37	9	126794984	126794984	+	Nonstop_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:126794984T>C	ENST00000373615.4	+	5	1958	c.1219T>C	c.(1219-1221)Taa>Caa	p.*407Q	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	0					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CAACCTTTTCTAATGACTCGC	0.443																																					p.X407Q		Atlas-SNP	.											.	LHX2	30	.	0			c.T1219C						.						76.0	74.0	74.0					9																	126794984		2203	4300	6503	SO:0001578	stop_lost	9355	exon5			CTTTTCTAATGAC	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1219T>C	chr9.hg19:g.126794984T>C	ENSP00000362717:p.*407Glnext*1	157.0	0.0		72.0	57.0	NM_004789	O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	hg19	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.23|12.23	1.876370|1.876370	0.33162|0.33162	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000446480|ENST00000373615	.|.	.|.	.|.	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|.	.|.	.|.	.|.	T|.	0.38348|.	0.1037|.	.|.	.|.	.|.	0.20764|0.20764	N|N	0.999853|0.999853	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20240|.	-1.0281|.	4|.	.|.	.|.	.|.	.|.	10.0691|10.0691	0.42322|0.42322	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	P|Q	412|407	.|.	.|.	L|X	+|+	2|1	0|0	LHX2|LHX2	125834805|125834805	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.662000|7.662000	0.83803|0.83803	2.147000|2.147000	0.66899|0.66899	0.459000|0.459000	0.35465|0.35465	CTA|TAA	.	.		0.443	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2		
GAPVD1	26130	hgsc.bcm.edu	37	9	128124887	128124887	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:128124887A>G	ENST00000495955.1	+	28	4589	c.4299A>G	c.(4297-4299)gcA>gcG	p.A1433A	GAPVD1_ENST00000297933.6_Silent_p.A1415A|GAPVD1_ENST00000394105.2_Silent_p.A1442A|GAPVD1_ENST00000470056.1_Silent_p.A1388A|GAPVD1_ENST00000265956.4_Silent_p.A1407A|GAPVD1_ENST00000312123.9_Silent_p.A1394A|GAPVD1_ENST00000394104.2_Silent_p.A1433A|GAPVD1_ENST00000394083.2_Silent_p.A1367A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1433	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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						TTCTCTAGGCAAATCCACCCT	0.393																																					p.A1442A		Atlas-SNP	.											.	GAPVD1	124	.	0			c.A4326G						.						142.0	140.0	141.0					9																	128124887		2203	4300	6503	SO:0001819	synonymous_variant	26130	exon27			CTAGGCAAATCCA		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.4299A>G	chr9.hg19:g.128124887A>G		62.0	0.0		30.0	23.0	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	hg19																																																																																				.	.		0.393	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
QRFP	347148	hgsc.bcm.edu	37	9	133768976	133768976	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:133768976A>T	ENST00000343079.1	-	1	249	c.250T>A	c.(250-252)Tgc>Agc	p.C84S		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide											cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CGGAATCTGCAGCCAGCATGC	0.652																																					p.C84S		Atlas-SNP	.											.	QRFP	14	.	0			c.T250A						.						68.0	70.0	69.0					9																	133768976		2203	4300	6503	SO:0001583	missense	347148	exon1			ATCTGCAGCCAGC	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"""Endogenous ligands"""	29982	protein-coding gene	gene with protein product	"""prepro-QRFP"""	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.250T>A	chr9.hg19:g.133768976A>T	ENSP00000345487:p.Cys84Ser	101.0	0.0		38.0	34.0	NM_198180		Missense_Mutation	SNP	ENST00000343079.1	hg19	CCDS6936.1	.	.	.	.	.	.	.	.	.	.	A	9.987	1.229790	0.22542	.	.	ENSG00000188710	ENST00000343079	T	0.42900	0.96	4.65	-0.566	0.11767	.	0.191853	0.35349	N	0.003263	T	0.21427	0.0516	N	0.22421	0.69	0.09310	N	1	B	0.19073	0.033	B	0.19391	0.025	T	0.14144	-1.0483	10	0.20519	T	0.43	.	4.9583	0.14054	0.599:0.1475:0.2535:0.0	.	84	P83859	OX26_HUMAN	S	84	ENSP00000345487:C84S	ENSP00000345487:C84S	C	-	1	0	QRFP	132758797	0.990000	0.36364	0.001000	0.08648	0.005000	0.04900	0.454000	0.21827	-0.301000	0.08882	-0.609000	0.04063	TGC	.	.		0.652	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180	
TSC1	7248	hgsc.bcm.edu	37	9	135779040	135779040	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:135779040T>C	ENST00000298552.3	-	17	2427	c.2206A>G	c.(2206-2208)Atg>Gtg	p.M736V	TSC1_ENST00000440111.2_Missense_Mutation_p.M736V|TSC1_ENST00000545250.1_Missense_Mutation_p.M685V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	736					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCCTCACCATGGCAGCATTA	0.532			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.M736V		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	TSC1	167	.	1	Unknown(1)	bone(1)	c.A2206G						.						70.0	73.0	72.0					9																	135779040		2203	4300	6503	SO:0001583	missense	7248	exon17	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	TCACCATGGCAGC	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2206A>G	chr9.hg19:g.135779040T>C	ENSP00000298552:p.Met736Val	78.0	0.0		47.0	38.0	NM_000368	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	hg19	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205412	0.79127	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.84223	-1.82;-1.82;-1.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87838	0.6278	L	0.32530	0.975	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.68483	0.958;0.958	D	0.89220	0.3570	10	0.72032	D	0.01	-20.1791	14.468	0.67497	0.0:0.0:0.0:1.0	.	685;736	B7Z897;Q92574	.;TSC1_HUMAN	V	736;736;685	ENSP00000298552:M736V;ENSP00000394524:M736V;ENSP00000444017:M685V	ENSP00000298552:M736V	M	-	1	0	TSC1	134768861	1.000000	0.71417	0.949000	0.38748	0.883000	0.51084	7.992000	0.88273	2.014000	0.59158	0.528000	0.53228	ATG	.	.		0.532	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
STKLD1	169436	hgsc.bcm.edu	37	9	136270407	136270407	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:136270407T>C	ENST00000371957.3	+	18	2012	c.1905T>C	c.(1903-1905)agT>agC	p.S635S	C9orf96_ENST00000371955.1_Silent_p.S168S	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		635							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGTCCAGTAGTATGAAGGCCC	0.622																																					p.S635S		Atlas-SNP	.											.	C9orf96	77	.	0			c.T1905C						.						49.0	45.0	46.0					9																	136270407		2203	4300	6503	SO:0001819	synonymous_variant	169436	exon18			CAGTAGTATGAAG																												ENST00000371957.3:c.1905T>C	chr9.hg19:g.136270407T>C		23.0	0.0		12.0	10.0	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	hg19	CCDS35169.1																																																																																			.	.		0.622	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		
TMEM8C	389827	hgsc.bcm.edu	37	9	136384125	136384125	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:136384125T>A	ENST00000339996.3	-	3	371	c.270A>T	c.(268-270)gaA>gaT	p.E90D	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	90					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ACCTCTTGGGTTCGTCGAAGT	0.637																																					p.E90D		Atlas-SNP	.											.	TMEM8C	32	.	0			c.A270T						.						118.0	101.0	107.0					9																	136384125		2203	4300	6503	SO:0001583	missense	389827	exon3			CTTGGGTTCGTCG	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.270A>T	chr9.hg19:g.136384125T>A	ENSP00000419712:p.Glu90Asp	68.0	0.0		22.0	17.0	NM_001080483		Missense_Mutation	SNP	ENST00000339996.3	hg19	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744382	0.30865	.	.	ENSG00000187616	ENST00000339996	T	0.49720	0.77	5.09	-0.235	0.13071	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.55103	1.725	0.39448	D	0.967352	D	0.76494	0.999	D	0.69654	0.965	T	0.51466	-0.8702	10	0.18276	T	0.48	-32.0469	9.1648	0.37046	0.0:0.3954:0.0:0.6046	.	90	A6NI61	TMM8C_HUMAN	D	90	ENSP00000419712:E90D	ENSP00000419712:E90D	E	-	3	2	TMEM8C	135373946	0.054000	0.20591	0.988000	0.46212	0.215000	0.24574	-0.667000	0.05274	0.019000	0.15079	-0.765000	0.03448	GAA	.	.		0.637	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483	
KCNT1	57582	hgsc.bcm.edu	37	9	138656968	138656968	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:138656968T>A	ENST00000263604.3	+	12	1070	c.1070T>A	c.(1069-1071)cTg>cAg	p.L357Q	KCNT1_ENST00000491806.2_Missense_Mutation_p.L343Q|KCNT1_ENST00000486577.2_Missense_Mutation_p.L337Q|KCNT1_ENST00000488444.2_Missense_Mutation_p.L357Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.L376Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.L331Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.L357Q|KCNT1_ENST00000371757.2_Missense_Mutation_p.L376Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	357					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACGTGGTCCTGTGTGTCAGC	0.627																																					p.L376Q		Atlas-SNP	.											.	KCNT1	139	.	0			c.T1127A						.						204.0	180.0	188.0					9																	138656968		2203	4300	6503	SO:0001583	missense	57582	exon12			TGGTCCTGTGTGT	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1070T>A	chr9.hg19:g.138656968T>A	ENSP00000263604:p.Leu357Gln	136.0	0.0		62.0	45.0	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	hg19		.	.	.	.	.	.	.	.	.	.	T	23.0	4.366680	0.82463	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.35	4.35	0.52113	NAD(P)-binding domain (1);	0.000000	0.56097	U	0.000022	T	0.46210	0.1381	M	0.69358	2.11	0.58432	D	0.999999	P;D;D;D	0.67145	0.952;0.996;0.972;0.987	P;D;D;P	0.65987	0.873;0.928;0.94;0.873	T	0.49437	-0.8940	10	0.87932	D	0	-10.8422	12.853	0.57869	0.0:0.0:0.0:1.0	.	343;376;331;357	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Q	331;376;376;337;343;357;357;357	ENSP00000417851:L331Q;ENSP00000298480:L376Q;ENSP00000360822:L376Q;ENSP00000263604:L357Q	ENSP00000263604:L357Q	L	+	2	0	KCNT1	137796789	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	7.575000	0.82447	1.817000	0.53016	0.379000	0.24179	CTG	.	.		0.627	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
SLC34A3	142680	hgsc.bcm.edu	37	9	140127698	140127698	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:140127698T>A	ENST00000538474.1	+	7	822	c.598T>A	c.(598-600)Tgg>Agg	p.W200R	SLC34A3_ENST00000361134.2_Missense_Mutation_p.W200R	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	200					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GATCTTCAACTGGCTCACAGT	0.701																																					p.W200R		Atlas-SNP	.											.	SLC34A3	32	.	0			c.T598A						.						13.0	13.0	13.0					9																	140127698		2128	4211	6339	SO:0001583	missense	142680	exon7			TTCAACTGGCTCA	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.598T>A	chr9.hg19:g.140127698T>A	ENSP00000442397:p.Trp200Arg	59.0	0.0		26.0	22.0	NM_001177317	A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	hg19	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	t	18.70	3.680965	0.68042	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.85556	-2.0;-2.0	3.59	3.59	0.41128	.	0.000000	0.52532	D	0.000062	D	0.90878	0.7134	M	0.79614	2.46	0.44937	D	0.997958	D	0.89917	1.0	D	0.85130	0.997	D	0.90971	0.4820	10	0.59425	D	0.04	-11.4777	10.4527	0.44531	0.0:0.0:0.0:1.0	.	200	Q8N130	NPT2C_HUMAN	R	200	ENSP00000442397:W200R;ENSP00000355353:W200R	ENSP00000355353:W200R	W	+	1	0	SLC34A3	139247519	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.047000	0.49854	1.625000	0.50366	0.449000	0.29647	TGG	.	.		0.701	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
EHMT1	79813	hgsc.bcm.edu	37	9	140695341	140695341	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr9:140695341G>T	ENST00000460843.1	+	18	2644	c.2617G>T	c.(2617-2619)Ggc>Tgc	p.G873C		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	873					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGATGACGGAGGCTGGACACC	0.587																																					p.G873C		Atlas-SNP	.											.	EHMT1	196	.	0			c.G2617T						.						162.0	117.0	132.0					9																	140695341		2203	4300	6503	SO:0001583	missense	79813	exon18			GACGGAGGCTGGA	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2617G>T	chr9.hg19:g.140695341G>T	ENSP00000417980:p.Gly873Cys	134.0	0.0		58.0	45.0	NM_024757	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	hg19	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285174	0.80803	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.74315	-0.83	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94009	0.7282	10	0.87932	D	0	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	873	Q9H9B1	EHMT1_HUMAN	C	842;873	ENSP00000417980:G873C	ENSP00000360453:G842C	G	+	1	0	EHMT1	139815162	1.000000	0.71417	0.977000	0.42913	0.484000	0.33280	9.604000	0.98317	2.582000	0.87167	0.561000	0.74099	GGC	.	.		0.587	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
DIP2C	22982	hgsc.bcm.edu	37	10	395294	395294	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:395294T>A	ENST00000280886.6	-	25	3173	c.3086A>T	c.(3085-3087)cAc>cTc	p.H1029L		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1029						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAAGGCCACGTGGTCGCCGTC	0.652																																					p.H1029L		Atlas-SNP	.											.	DIP2C	195	.	0			c.A3086T						.						89.0	66.0	74.0					10																	395294		2203	4300	6503	SO:0001583	missense	22982	exon25			GCCACGTGGTCGC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3086A>T	chr10.hg19:g.395294T>A	ENSP00000280886:p.His1029Leu	29.0	0.0		33.0	16.0	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600841	0.66332	.	.	ENSG00000151240	ENST00000280886	T	0.09630	2.96	5.18	4.03	0.46877	AMP-dependent synthetase/ligase (1);	0.051344	0.85682	N	0.000000	T	0.14270	0.0345	L	0.43923	1.385	0.80722	D	1	B	0.28636	0.218	B	0.39152	0.292	T	0.03957	-1.0989	10	0.62326	D	0.03	-25.8139	11.3053	0.49332	0.1366:0.0:0.0:0.8634	.	1029	Q9Y2E4	DIP2C_HUMAN	L	1029	ENSP00000280886:H1029L	ENSP00000280886:H1029L	H	-	2	0	DIP2C	385294	1.000000	0.71417	0.474000	0.27266	0.274000	0.26718	8.033000	0.88852	0.785000	0.33685	0.460000	0.39030	CAC	.	.		0.652	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
PFKFB3	5209	hgsc.bcm.edu	37	10	6255708	6255708	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:6255708A>G	ENST00000379775.4	+	2	529	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E	PFKFB3_ENST00000379782.3_Missense_Mutation_p.K67E|PFKFB3_ENST00000379785.1_Missense_Mutation_p.K67E|PFKFB3_ENST00000360521.2_Missense_Mutation_p.K67E|PFKFB3_ENST00000379789.4_Missense_Mutation_p.K47E|PFKFB3_ENST00000540253.1_Missense_Mutation_p.K81E|PFKFB3_ENST00000317350.4_Missense_Mutation_p.K67E|PFKFB3_ENST00000536985.1_Missense_Mutation_p.K47E	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	67	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CGTCCCCACAAAAGGTGAGAC	0.612																																					p.K67E		Atlas-SNP	.											.	PFKFB3	82	.	0			c.A199G						.						112.0	103.0	106.0					10																	6255708		2203	4300	6503	SO:0001583	missense	5209	exon2			CCCACAAAAGGTG		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.199A>G	chr10.hg19:g.6255708A>G	ENSP00000369100:p.Lys67Glu	45.0	0.0		55.0	29.0	NM_004566	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	hg19	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801496	0.70682	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.3	5.3	0.74995	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.78456	2.415	0.80722	D	1	D;D;P;D	0.67145	0.996;0.962;0.927;0.983	P;B;B;P	0.58970	0.849;0.354;0.335;0.64	T	0.80618	-0.1302	9	0.87932	D	0	-2.413	15.3145	0.74062	1.0:0.0:0.0:0.0	.	81;67;67;47	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	E	47;47;81;67;67;67;67;67;67	.	ENSP00000369105:K67E	K	+	1	0	PFKFB3	6295714	1.000000	0.71417	0.953000	0.39169	0.054000	0.15201	8.889000	0.92470	2.018000	0.59344	0.456000	0.33151	AAA	.	.		0.612	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1		
SFMBT2	57713	hgsc.bcm.edu	37	10	7213990	7213990	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:7213990A>G	ENST00000361972.4	-	19	2372	c.2282T>C	c.(2281-2283)gTc>gCc	p.V761A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V761A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	761					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCGCAGGGTGACGGCCCTCCG	0.746																																					p.V761A		Atlas-SNP	.											.	SFMBT2	209	.	0			c.T2282C						.						10.0	13.0	12.0					10																	7213990		2129	4166	6295	SO:0001583	missense	57713	exon19			AGGGTGACGGCCC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2282T>C	chr10.hg19:g.7213990A>G	ENSP00000355109:p.Val761Ala	12.0	0.0		27.0	13.0	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	hg19	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.316073	0.23908	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.13901	2.55;2.55	5.25	4.12	0.48240	.	0.302414	0.35407	N	0.003233	T	0.11281	0.0275	L	0.46741	1.465	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07673	-1.0760	10	0.08179	T	0.78	.	10.8677	0.46864	0.9257:0.0:0.0743:0.0	.	761	Q5VUG0	SMBT2_HUMAN	A	761	ENSP00000355109:V761A;ENSP00000380353:V761A	ENSP00000355109:V761A	V	-	2	0	SFMBT2	7253996	0.018000	0.18449	0.177000	0.23020	0.966000	0.64601	2.259000	0.43259	0.839000	0.34971	0.459000	0.35465	GTC	.	.		0.746	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
MCM10	55388	hgsc.bcm.edu	37	10	13217598	13217598	+	Missense_Mutation	SNP	A	A	T	rs138161730	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:13217598A>T	ENST00000484800.2	+	6	787	c.684A>T	c.(682-684)agA>agT	p.R228S	MCM10_ENST00000378694.1_Missense_Mutation_p.R227S|MCM10_ENST00000378714.3_Missense_Mutation_p.R227S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	228					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGATAACTAGAGGTCAAATTG	0.488																																					p.R228S		Atlas-SNP	.											.	MCM10	76	.	0			c.A684T						.						125.0	125.0	125.0					10																	13217598		2203	4300	6503	SO:0001583	missense	55388	exon6			AACTAGAGGTCAA	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.684A>T	chr10.hg19:g.13217598A>T	ENSP00000418268:p.Arg228Ser	150.0	0.0		136.0	65.0	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	hg19	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	4.905	0.168207	0.09339	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15017	2.48;2.46;2.47	5.42	-1.36	0.09085	.	0.412228	0.29389	N	0.012283	T	0.12305	0.0299	L	0.57536	1.79	0.09310	N	1	B;B;B	0.27559	0.179;0.181;0.113	B;B;B	0.27380	0.077;0.079;0.036	T	0.40098	-0.9581	10	0.10377	T	0.69	-13.2441	6.7546	0.23505	0.4675:0.1315:0.401:0.0	.	227;227;228	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	S	227;228;228;227	ENSP00000367986:R227S;ENSP00000418268:R228S;ENSP00000367966:R227S	ENSP00000354945:R228S	R	+	3	2	MCM10	13257604	0.055000	0.20627	0.000000	0.03702	0.001000	0.01503	0.349000	0.20055	-0.410000	0.07542	-0.274000	0.10170	AGA	.	A|1.000;G|0.000		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
FAM107B	83641	hgsc.bcm.edu	37	10	14563994	14563994	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:14563994T>A	ENST00000378470.1	-	3	439	c.153A>T	c.(151-153)ccA>ccT	p.P51P	FAM107B_ENST00000378467.4_Silent_p.P51P|FAM107B_ENST00000468747.1_Silent_p.P51P|FAM107B_ENST00000378465.3_Silent_p.P51P|FAM107B_ENST00000378458.2_Silent_p.P51P|FAM107B_ENST00000479731.1_Silent_p.P51P|FAM107B_ENST00000378462.1_Silent_p.P51P|FAM107B_ENST00000478076.1_Silent_p.P51P|FAM107B_ENST00000181796.2_Silent_p.P226P|FAM107B_ENST00000496330.1_Silent_p.P51P	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	51					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTGCAATTCTGGTTTGTTCT	0.353																																					p.P226P		Atlas-SNP	.											.	FAM107B	43	.	0			c.A678T						.						136.0	127.0	130.0					10																	14563994		2203	4300	6503	SO:0001819	synonymous_variant	83641	exon4			CAATTCTGGTTTG	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.153A>T	chr10.hg19:g.14563994T>A		73.0	0.0		59.0	26.0	NM_031453	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	ENST00000378470.1	hg19																																																																																				.	.		0.353	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453	
CUBN	8029	hgsc.bcm.edu	37	10	17151661	17151661	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:17151661A>T	ENST00000377833.4	-	10	1154	c.1089T>A	c.(1087-1089)gaT>gaA	p.D363E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	363	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D363E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCATGAGGCATCTGGGTGGC	0.453																																					p.D363E		Atlas-SNP	.											CUBN,NS,carcinoma,0,1	CUBN	515	.	1	Substitution - Missense(1)	kidney(1)	c.T1089A						.						184.0	127.0	146.0					10																	17151661		2203	4300	6503	SO:0001583	missense	8029	exon10			TGAGGCATCTGGG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1089T>A	chr10.hg19:g.17151661A>T	ENSP00000367064:p.Asp363Glu	67.0	0.0		76.0	27.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.810101	0.00004	.	.	ENSG00000107611	ENST00000377833	D	0.89875	-2.58	5.64	-11.3	0.00108	EGF domain, merozoite surface protein 1-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.079030	0.07326	N	0.878349	T	0.71013	0.3290	N	0.25426	0.745	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68815	-0.5309	10	0.02654	T	1	.	1.5415	0.02556	0.1641:0.2739:0.2634:0.2986	.	363	O60494	CUBN_HUMAN	E	363	ENSP00000367064:D363E	ENSP00000367064:D363E	D	-	3	2	CUBN	17191667	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.865000	0.00724	-8.331000	0.00000	-2.052000	0.00405	GAT	.	.		0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
SLC39A12	221074	hgsc.bcm.edu	37	10	18250689	18250689	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:18250689A>C	ENST00000377369.2	+	3	714	c.441A>C	c.(439-441)ctA>ctC	p.L147L	SLC39A12_ENST00000377371.3_Silent_p.L147L|SLC39A12_ENST00000377374.4_Silent_p.L147L|SLC39A12_ENST00000539911.1_Silent_p.L13L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	147					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TACACAGCCTACTGAGCCTCA	0.393																																					p.L147L		Atlas-SNP	.											.	SLC39A12	181	.	0			c.A441C						.						82.0	86.0	85.0					10																	18250689		2203	4300	6503	SO:0001819	synonymous_variant	221074	exon3			CAGCCTACTGAGC		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.441A>C	chr10.hg19:g.18250689A>C		133.0	0.0		129.0	60.0	NM_152725	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	hg19	CCDS44362.1																																																																																			.	.		0.393	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
GPR158	57512	hgsc.bcm.edu	37	10	25887814	25887814	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:25887814C>A	ENST00000376351.3	+	11	3618	c.3259C>A	c.(3259-3261)Ctt>Att	p.L1087I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1087					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGATGAGAAGCTTTTGATTTC	0.512																																					p.L1087I		Atlas-SNP	.											.	GPR158	255	.	0			c.C3259A						.						83.0	88.0	86.0					10																	25887814		2203	4300	6503	SO:0001583	missense	57512	exon11			GAGAAGCTTTTGA	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3259C>A	chr10.hg19:g.25887814C>A	ENSP00000365529:p.Leu1087Ile	88.0	0.0		76.0	30.0	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.118098	0.01785	.	.	ENSG00000151025	ENST00000376351	T	0.59906	0.23	5.85	1.77	0.24775	.	1.405820	0.04219	N	0.333285	T	0.37019	0.0988	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20672	-1.0268	10	0.35671	T	0.21	.	5.5438	0.17053	0.36:0.4576:0.1163:0.066	.	1087	Q5T848	GP158_HUMAN	I	1087	ENSP00000365529:L1087I	ENSP00000365529:L1087I	L	+	1	0	GPR158	25927820	0.053000	0.20554	0.083000	0.20561	0.004000	0.04260	0.780000	0.26760	0.051000	0.15978	-0.181000	0.13052	CTT	.	.		0.512	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	hgsc.bcm.edu	37	10	26463109	26463109	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:26463109A>G	ENST00000265944.5	+	30	4082	c.3916A>G	c.(3916-3918)Aag>Gag	p.K1306E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1306					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAAGAAAAGAAGACATCTGT	0.433																																					p.K1306E		Atlas-SNP	.											.	MYO3A	371	.	0			c.A3916G						.						98.0	106.0	103.0					10																	26463109		2203	4300	6503	SO:0001583	missense	53904	exon30			GAAAAGAAGACAT	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3916A>G	chr10.hg19:g.26463109A>G	ENSP00000265944:p.Lys1306Glu	170.0	0.0		174.0	85.0	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399552	0.25291	.	.	ENSG00000095777	ENST00000265944	T	0.79940	-1.32	5.37	3.01	0.34805	.	0.434025	0.28989	N	0.013495	T	0.58395	0.2119	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.49560	-0.8927	10	0.52906	T	0.07	.	3.6825	0.08316	0.6325:0.1761:0.0763:0.1151	.	1306	Q8NEV4	MYO3A_HUMAN	E	1306	ENSP00000265944:K1306E	ENSP00000265944:K1306E	K	+	1	0	MYO3A	26503115	1.000000	0.71417	0.053000	0.19242	0.764000	0.43329	3.218000	0.51192	0.336000	0.23639	0.460000	0.39030	AAG	.	.		0.433	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ZNF33B	7582	hgsc.bcm.edu	37	10	43089253	43089253	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:43089253T>A	ENST00000359467.3	-	5	1259	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	382					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AAAAGGTTTCTCCCCTGTGTG	0.433																																					p.E382V	Melanoma(137;1247 1767 16772 25727 43810)	Atlas-SNP	.											.	ZNF33B	78	.	0			c.A1145T						.						102.0	104.0	104.0					10																	43089253		2203	4300	6503	SO:0001583	missense	7582	exon5			GGTTTCTCCCCTG	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1145A>T	chr10.hg19:g.43089253T>A	ENSP00000352444:p.Glu382Val	86.0	0.0		62.0	36.0	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	hg19	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313875	0.60414	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.26810	1.71	2.28	2.28	0.28536	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36591	N	0.002514	T	0.33644	0.0870	L	0.31578	0.945	0.35683	D	0.814267	D	0.89917	1.0	D	0.87578	0.998	T	0.42565	-0.9444	10	0.87932	D	0	.	8.5071	0.33195	0.0:0.0:0.0:1.0	.	382	Q06732	ZN33B_HUMAN	V	382;348	ENSP00000352444:E382V	ENSP00000352444:E382V	E	-	2	0	ZNF33B	42409259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.481000	0.73608	1.324000	0.45282	0.341000	0.21757	GAG	.	.		0.433	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
FXYD4	53828	hgsc.bcm.edu	37	10	43870979	43870979	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:43870979T>G	ENST00000476166.1	+	6	464	c.130T>G	c.(130-132)Tgc>Ggc	p.C44G	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	44					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			NS(1)|large_intestine(1)|lung(3)	5						CGGACTGATCTGCGGAGGGCT	0.622																																					p.C44G	GBM(173;880 2047 13035 42390 49655)	Atlas-SNP	.											.	FXYD4	9	.	0			c.T130G						.						75.0	73.0	74.0					10																	43870979		2203	4300	6503	SO:0001583	missense	53828	exon6			CTGATCTGCGGAG		CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"""FXYD domain-containing ion transport regulator 4"""			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	ENST00000476166.1:c.130T>G	chr10.hg19:g.43870979T>G	ENSP00000473361:p.Cys44Gly	88.0	0.0		83.0	38.0	NM_001184963	Q6UWZ1|Q7Z4M5	Missense_Mutation	SNP	ENST00000476166.1	hg19	CCDS7203.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085767	0.36758	.	.	ENSG00000150201	ENST00000374451;ENST00000458363	.	.	.	4.11	1.65	0.23941	.	0.429185	0.25683	N	0.028999	T	0.27832	0.0685	.	.	.	0.09310	N	1	P	0.37176	0.586	B	0.39531	0.302	T	0.15350	-1.0440	8	0.66056	D	0.02	1.1632	4.7076	0.12856	0.1921:0.0:0.2002:0.6077	.	44	P59646	FXYD4_HUMAN	G	44	.	ENSP00000363575:C44G	C	+	1	0	FXYD4	43190985	0.470000	0.25854	0.016000	0.15963	0.050000	0.14768	0.344000	0.19962	0.337000	0.23665	-0.313000	0.08912	TGC	.	.		0.622	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047698.2	NM_173160	
RASSF4	83937	hgsc.bcm.edu	37	10	45484737	45484737	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:45484737C>G	ENST00000340258.5	+	7	660	c.547C>G	c.(547-549)Cca>Gca	p.P183A	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.P192A|RASSF4_ENST00000472561.1_3'UTR	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	797	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGTGTTTACTCCAGCCTATGG	0.547																																					p.P183A		Atlas-SNP	.											.	RASSF4	33	.	0			c.C547G						.						108.0	88.0	95.0					10																	45484737		2203	4300	6503	SO:0001583	missense	83937	exon7			TTTACTCCAGCCT	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.547C>G	chr10.hg19:g.45484737C>G	ENSP00000339692:p.Pro183Ala	68.0	0.0		52.0	19.0	NM_032023	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	hg19	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411705	0.83340	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.17213	2.29;2.29	6.03	6.03	0.97812	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.62680	-0.6803	10	0.72032	D	0.01	-17.1966	18.0507	0.89347	0.0:1.0:0.0:0.0	.	192;274;183	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	A	192;183;274	ENSP00000334543:P192A;ENSP00000339692:P183A	ENSP00000334543:P192A	P	+	1	0	RASSF4	44804743	1.000000	0.71417	0.969000	0.41365	0.568000	0.35870	7.433000	0.80362	2.861000	0.98227	0.655000	0.94253	CCA	.	.		0.547	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023	
ZFAND4	93550	hgsc.bcm.edu	37	10	46135397	46135397	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:46135397T>C	ENST00000344646.5	-	6	799	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.Y121C	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	195							zinc ion binding (GO:0008270)										ATCTGAATTATACATAGAACC	0.338																																					p.Y195C		Atlas-SNP	.											.	.	.	.	0			c.A584G						.						107.0	109.0	108.0					10																	46135397		2203	4300	6503	SO:0001583	missense	93550	exon6			GAATTATACATAG	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.584A>G	chr10.hg19:g.46135397T>C	ENSP00000339484:p.Tyr195Cys	54.0	0.0		51.0	17.0	NM_001128324	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	hg19	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258459	0.39896	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.27557	1.66;1.67	5.63	4.48	0.54585	.	3.911980	0.01015	N	0.003883	T	0.33702	0.0872	L	0.48642	1.525	0.46849	D	0.999225	B	0.29627	0.252	B	0.26614	0.071	T	0.32348	-0.9910	10	0.87932	D	0	-23.8925	10.1504	0.42788	0.0:0.0813:0.0:0.9187	.	195	Q86XD8	ANUB1_HUMAN	C	195;121;77	ENSP00000339484:Y195C;ENSP00000363486:Y121C	ENSP00000339484:Y195C	Y	-	2	0	ANUBL1	45455403	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	2.253000	0.43205	2.157000	0.67596	0.482000	0.46254	TAT	.	.		0.338	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	
NPY4R	5540	hgsc.bcm.edu	37	10	47087208	47087208	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:47087208T>C	ENST00000395716.1	+	2	510	c.425T>C	c.(424-426)cTc>cCc	p.L142P	NPY4R_ENST00000374312.1_Missense_Mutation_p.L142P			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	142					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGGCATCAGCTCATCATCAAC	0.587																																					p.L142P		Atlas-SNP	.											.	PPYR1	54	.	0			c.T425C						.						279.0	244.0	256.0					10																	47087208		2203	4300	6503	SO:0001583	missense	5540	exon3			ATCAGCTCATCAT		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.425T>C	chr10.hg19:g.47087208T>C	ENSP00000379066:p.Leu142Pro	107.0	0.0		124.0	24.0	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	hg19	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079687	0.76528	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.38077	1.16;1.16	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.070703	0.64402	D	0.000017	T	0.63070	0.2480	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69676	-0.5081	10	0.87932	D	0	.	12.8468	0.57833	0.0:0.0:0.0:1.0	.	142	P50391	NPY4R_HUMAN	P	142	ENSP00000363431:L142P;ENSP00000379066:L142P	ENSP00000363431:L142P	L	+	2	0	PPYR1	46507214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	1.994000	0.58287	0.496000	0.49642	CTC	.	.		0.587	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
ZNF488	118738	hgsc.bcm.edu	37	10	48370707	48370707	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:48370707G>C	ENST00000395702.2	+	2	402	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	ZNF488_ENST00000494156.1_Missense_Mutation_p.E59Q|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	59					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGGGCCCTGAGGCTGCTGT	0.677																																					p.E59Q		Atlas-SNP	.											.	ZNF488	38	.	0			c.G175C						.						33.0	42.0	39.0					10																	48370707		2199	4296	6495	SO:0001583	missense	118738	exon2			GGCCCTGAGGCTG	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.175G>C	chr10.hg19:g.48370707G>C	ENSP00000379054:p.Glu59Gln	35.0	0.0		24.0	7.0	NM_153034	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	hg19	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775422	0.49786	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.56275	1.69;0.59;0.55;0.47;1.16;1.18	4.9	-1.15	0.09709	.	0.368611	0.26688	N	0.023009	T	0.30978	0.0782	L	0.29908	0.895	0.09310	N	0.999998	B	0.17465	0.022	B	0.15870	0.014	T	0.08086	-1.0739	10	0.39692	T	0.17	.	3.4344	0.07440	0.082:0.2837:0.3875:0.2468	.	59	Q96MN9	ZN488_HUMAN	Q	59	ENSP00000379054:E59Q;ENSP00000401469:E59Q;ENSP00000415923:E59Q;ENSP00000406508:E59Q;ENSP00000410326:E59Q;ENSP00000412898:E59Q	ENSP00000379054:E59Q	E	+	1	0	ZNF488	47990713	0.033000	0.19621	0.002000	0.10522	0.059000	0.15707	2.064000	0.41432	0.101000	0.17610	0.561000	0.74099	GAG	.	.		0.677	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034	
GDF2	2658	hgsc.bcm.edu	37	10	48416370	48416370	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:48416370A>G	ENST00000249598.1	-	1	483	c.324T>C	c.(322-324)atT>atC	p.I108I		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	108					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGCTCCGCACAATGTTGGACG	0.597																																					p.I108I		Atlas-SNP	.											.	GDF2	77	.	0			c.T324C						.						102.0	78.0	86.0					10																	48416370		2203	4300	6503	SO:0001819	synonymous_variant	2658	exon1			CCGCACAATGTTG	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.324T>C	chr10.hg19:g.48416370A>G		59.0	0.0		48.0	19.0	NM_016204	Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	hg19	CCDS7219.1																																																																																			.	.		0.597	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49687696	49687696	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:49687696C>A	ENST00000249601.4	-	4	730	c.434G>T	c.(433-435)tGg>tTg	p.W145L	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.W55L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.W145L|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.W55L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.W20L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.W151L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	145	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGCGGGGCCCAGATGACTCG	0.667																																					p.W151L		Atlas-SNP	.											.	ARHGAP22	94	.	0			c.G452T						.						38.0	39.0	39.0					10																	49687696		2203	4300	6503	SO:0001583	missense	58504	exon4			GGGGCCCAGATGA	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.434G>T	chr10.hg19:g.49687696C>A	ENSP00000249601:p.Trp145Leu	119.0	0.0		117.0	56.0	NM_001256025	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	hg19	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968041	0.74131	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.28454	1.61;2.4;2.4;2.4;1.61;1.61	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	M	0.70595	2.14	0.80722	D	1	B;B;B;B	0.30686	0.054;0.29;0.108;0.003	B;B;B;B	0.32864	0.019;0.154;0.056;0.025	T	0.15925	-1.0420	10	0.10377	T	0.69	.	16.8225	0.85922	0.0:1.0:0.0:0.0	.	151;145;145;55	B4DED8;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;RHG22_HUMAN;.	L	145;20;55;55;151;145	ENSP00000249601:W145L;ENSP00000363287:W20L;ENSP00000363285:W55L;ENSP00000410054:W55L;ENSP00000416701:W151L;ENSP00000412461:W145L	ENSP00000249601:W145L	W	-	2	0	ARHGAP22	49357702	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	2.456000	0.83038	0.655000	0.94253	TGG	.	.		0.667	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
WDFY4	57705	hgsc.bcm.edu	37	10	50174650	50174650	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:50174650T>A	ENST00000325239.5	+	54	8543	c.8516T>A	c.(8515-8517)cTg>cAg	p.L2839Q	WDFY4_ENST00000465910.1_3'UTR|WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2839						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CCCGTGAGCCTGCCTGGCCAC	0.592																																					p.L2839Q		Atlas-SNP	.											.	WDFY4	205	.	0			c.T8516A						.						71.0	73.0	73.0					10																	50174650		692	1591	2283	SO:0001583	missense	57705	exon55			TGAGCCTGCCTGG	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8516T>A	chr10.hg19:g.50174650T>A	ENSP00000320563:p.Leu2839Gln	95.0	0.0		62.0	18.0	NM_020945	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	hg19	CCDS44385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.343|8.343	0.829187|0.829187	0.16749|0.16749	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000426033;ENST00000325239;ENST00000544136	.|T	.|0.59638	.|0.25	5.64|5.64	0.414|0.414	0.16406|0.16406	.|.	.|1.240890	.|0.05749	.|N	.|0.602680	T|T	0.47746|0.47746	0.1462|0.1462	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	0.999999|0.999999	.|P;P	.|0.43287	.|0.802;0.716	.|B;B	.|0.37888	.|0.26;0.169	T|T	0.38628|0.38628	-0.9652|-0.9652	5|9	.|.	.|.	.|.	.|.	3.1067|3.1067	0.06344|0.06344	0.1918:0.3515:0.0:0.4567|0.1918:0.3515:0.0:0.4567	.|.	.|302;2839	.|B4DWY9;Q6ZS81	.|.;WDFY4_HUMAN	S|Q	926|2839;2839;302	.|ENSP00000320563:L2839Q	.|.	C|L	+|+	1|2	0|0	WDFY4|WDFY4	49844656|49844656	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.046000|0.046000	0.14306|0.14306	0.746000|0.746000	0.26275|0.26275	0.063000|0.063000	0.16370|0.16370	-0.297000|-0.297000	0.09499|0.09499	TGC|CTG	.	.		0.592	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
C10orf71	118461	hgsc.bcm.edu	37	10	50530956	50530956	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:50530956C>T	ENST00000374144.3	+	3	654	c.366C>T	c.(364-366)gtC>gtT	p.V122V	C10orf71_ENST00000323868.4_Silent_p.V122V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	122										endometrium(1)	1						CAACGCCAGTCCAGAGGAGAC	0.552																																					p.V122V		Atlas-SNP	.											.	C10orf71	179	.	0			c.C366T						.						86.0	99.0	95.0					10																	50530956		1906	4125	6031	SO:0001819	synonymous_variant	118461	exon3			GCCAGTCCAGAGG	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.366C>T	chr10.hg19:g.50530956C>T		128.0	0.0		127.0	62.0	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	hg19	CCDS44387.1																																																																																			.	.		0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
C10orf71	118461	hgsc.bcm.edu	37	10	50532101	50532101	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:50532101A>T	ENST00000374144.3	+	3	1799	c.1511A>T	c.(1510-1512)aAg>aTg	p.K504M	C10orf71_ENST00000323868.4_Missense_Mutation_p.K504M			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	504										endometrium(1)	1						TTCAACCTCAAGGACGTGCGG	0.498																																					p.K504M		Atlas-SNP	.											.	C10orf71	179	.	0			c.A1511T						.						46.0	49.0	48.0					10																	50532101		2060	4199	6259	SO:0001583	missense	118461	exon3			ACCTCAAGGACGT	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1511A>T	chr10.hg19:g.50532101A>T	ENSP00000363259:p.Lys504Met	85.0	0.0		58.0	32.0	NM_001135196	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	hg19	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455813	0.84209	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.31247	1.5;2.62	5.48	5.48	0.80851	.	0.000000	0.40728	N	0.001036	T	0.53802	0.1819	M	0.64997	1.995	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.57075	-0.7873	10	0.87932	D	0	.	15.6097	0.76707	1.0:0.0:0.0:0.0	.	504	Q711Q0-3	.	M	504	ENSP00000318713:K504M;ENSP00000363259:K504M	ENSP00000318713:K504M	K	+	2	0	C10orf71	50202107	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.707000	0.91367	2.087000	0.62958	0.477000	0.44152	AAG	.	.		0.498	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
PGBD3	267004	hgsc.bcm.edu	37	10	50724703	50724703	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:50724703T>A	ENST00000374127.3	-	2	659	c.458A>T	c.(457-459)gAg>gTg	p.E153V	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.E621V|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E621V|PGBD3_ENST00000508005.2_Missense_Mutation_p.E153V|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E621V	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	153										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCAATGACCTCGTCATCAAG	0.403																																					p.P153L		Atlas-SNP	.											.	PGBD3	58	.	0			c.C458T						.						123.0	119.0	120.0					10																	50724703		2203	4300	6503	SO:0001583	missense	267004	exon2			ATGACCTCGTCAT	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.458A>T	chr10.hg19:g.50724703T>A	ENSP00000363242:p.Glu153Val	122.0	0.0		72.0	34.0	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	hg19	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904543	0.52333	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	0.468	0.468	0.16732	.	.	.	.	.	T	0.25791	0.0628	L	0.52126	1.63	0.09310	N	1	P;D	0.54397	0.755;0.966	B;P	0.52109	0.241;0.69	T	0.12116	-1.0560	8	0.41790	T	0.15	-9.3338	.	.	.	.	621;153	E7EV46;Q8N328	.;PGBD3_HUMAN	V	153;153;621;621	ENSP00000363242:E153V;ENSP00000426963:E153V;ENSP00000423550:E621V;ENSP00000387966:E621V	ENSP00000387966:E621V	E	-	2	0	PGBD3;RP11-123B3.6	50394709	0.051000	0.20477	0.788000	0.31933	0.764000	0.43329	0.842000	0.27627	0.413000	0.25759	0.402000	0.26972	GAG	.	.		0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
NCOA4	8031	hgsc.bcm.edu	37	10	51585413	51585413	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:51585413A>G	ENST00000443446.1	+	8	1741	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	NCOA4_ENST00000414907.2_Silent_p.K338K|NCOA4_ENST00000374087.4_Silent_p.K504K|NCOA4_ENST00000438493.1_Silent_p.K520K|NCOA4_ENST00000430396.2_Silent_p.K404K|NCOA4_ENST00000374082.1_Silent_p.K504K|NCOA4_ENST00000344348.6_Silent_p.K504K|NCOA4_ENST00000452682.1_Silent_p.K520K	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	504					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCATACAAAGAAGGAAGTC	0.468			T	RET	papillary thyroid																																p.K520K		Atlas-SNP	.		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	NCOA4	58	.	0			c.A1560G						.						79.0	88.0	85.0					10																	51585413		2203	4299	6502	SO:0001819	synonymous_variant	8031	exon9			ATACAAAGAAGGA	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1512A>G	chr10.hg19:g.51585413A>G		70.0	0.0		82.0	41.0	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Silent	SNP	ENST00000443446.1	hg19	CCDS7237.1																																																																																			.	.		0.468	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437	
ASAH2	56624	hgsc.bcm.edu	37	10	52005188	52005188	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:52005188T>A	ENST00000395526.4	-	2	153	c.154A>T	c.(154-156)Acc>Tcc	p.T52S	ASAH2_ENST00000329428.6_Missense_Mutation_p.T33S|ASAH2_ENST00000447815.1_Missense_Mutation_p.T52S	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	52					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGGCTTTGGGTGGTTGAAAAA	0.473																																					p.T52S		Atlas-SNP	.											.	ASAH2	69	.	0			c.A154T						.						45.0	53.0	50.0					10																	52005188		2203	4300	6503	SO:0001583	missense	56624	exon2			TTTGGGTGGTTGA	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.154A>T	chr10.hg19:g.52005188T>A	ENSP00000378897:p.Thr52Ser	105.0	0.0		83.0	35.0	NM_019893	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	hg19	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	T	9.988	1.229969	0.22542	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.29655	1.56;1.56;1.56	5.28	5.28	0.74379	.	0.603513	0.15960	N	0.236310	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	B;B	0.16802	0.019;0.011	B;B	0.20955	0.032;0.014	T	0.05022	-1.0911	10	0.38643	T	0.18	.	13.2185	0.59873	0.0:0.0:0.0:1.0	.	52;52	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	S	52;52;33	ENSP00000378897:T52S;ENSP00000388206:T52S;ENSP00000329886:T33S	ENSP00000329886:T33S	T	-	1	0	ASAH2	51675194	0.770000	0.28543	0.038000	0.18304	0.040000	0.13550	2.031000	0.41117	2.210000	0.71456	0.533000	0.62120	ACC	.	.		0.473	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893	
A1CF	29974	hgsc.bcm.edu	37	10	52603787	52603787	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:52603787T>A	ENST00000373993.1	-	2	239	c.195A>T	c.(193-195)cgA>cgT	p.R65R	A1CF_ENST00000282641.2_Silent_p.R65R|A1CF_ENST00000373995.3_Silent_p.R73R|A1CF_ENST00000395489.2_Silent_p.R58R|A1CF_ENST00000373997.3_Silent_p.R65R|A1CF_ENST00000395495.1_Silent_p.R65R|A1CF_ENST00000374001.2_Silent_p.R65R			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	65	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAAAAGGTCTCGGGGAAGTT	0.398																																					p.R73R		Atlas-SNP	.											.	A1CF	190	.	0			c.A219T						.						85.0	99.0	94.0					10																	52603787		2203	4300	6503	SO:0001819	synonymous_variant	29974	exon5			AAGGTCTCGGGGA	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.195A>T	chr10.hg19:g.52603787T>A		185.0	0.0		133.0	55.0	NM_001198820	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	hg19	CCDS7242.1																																																																																			.	.		0.398	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PRKG1	5592	hgsc.bcm.edu	37	10	53564432	53564432	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:53564432A>G	ENST00000401604.2	+	4	829	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	PRKG1_ENST00000373980.4_Missense_Mutation_p.Y227C|PRKG1_ENST00000373985.1_Missense_Mutation_p.Y200C			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	212	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CATACCGAGTATATGGAATTT	0.363																																					p.Y227C		Atlas-SNP	.											.	PRKG1	167	.	0			c.A680G						.						92.0	85.0	88.0					10																	53564432		2203	4300	6503	SO:0001583	missense	5592	exon4			CCGAGTATATGGA		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.635A>G	chr10.hg19:g.53564432A>G	ENSP00000384200:p.Tyr212Cys	61.0	0.0		38.0	20.0	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	hg19	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.555548	0.45487	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.29	5.29	0.74685	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.59074	0.2167	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.974	T	0.66126	-0.6001	10	0.87932	D	0	-8.7097	13.447	0.61146	1.0:0.0:0.0:0.0	.	227;212	Q13976-2;Q13976	.;KGP1_HUMAN	C	212;200;227;85	ENSP00000384200:Y212C;ENSP00000363097:Y200C;ENSP00000363092:Y227C;ENSP00000363087:Y85C	ENSP00000363087:Y85C	Y	+	2	0	PRKG1	53234438	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.877000	0.92386	2.124000	0.65301	0.402000	0.26972	TAT	.	.		0.363	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
BICC1	80114	hgsc.bcm.edu	37	10	60553242	60553242	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:60553242A>G	ENST00000373886.3	+	9	1051		c.e9-1		BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GACATTTTCTAGGGTTGTCTT	0.333																																					.		Atlas-SNP	.											.	BICC1	121	.	0			c.1048-2A>G						.						109.0	100.0	103.0					10																	60553242		2203	4300	6503	SO:0001630	splice_region_variant	80114	exon9			TTTTCTAGGGTTG	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1048-1A>G	chr10.hg19:g.60553242A>G		92.0	0.0		96.0	33.0	NM_001080512		Splice_Site	SNP	ENST00000373886.3	hg19	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804621	0.70682	.	.	ENSG00000122870	ENST00000373886	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0734	0.80951	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60223248	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	9.210000	0.95106	2.195000	0.70347	0.533000	0.62120	.	.	.		0.333	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	Intron
ANK3	288	hgsc.bcm.edu	37	10	61829458	61829458	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:61829458A>C	ENST00000280772.2	-	37	11372	c.11181T>G	c.(11179-11181)tcT>tcG	p.S3727S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3727					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGTGGATGCAGAAATTCCCA	0.448																																					p.S3727S		Atlas-SNP	.											.	ANK3	703	.	0			c.T11181G						.						133.0	146.0	142.0					10																	61829458		2203	4300	6503	SO:0001819	synonymous_variant	288	exon37			GGATGCAGAAATT	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11181T>G	chr10.hg19:g.61829458A>C		101.0	0.0		66.0	24.0	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	hg19	CCDS7258.1																																																																																			.	.		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ARID5B	84159	hgsc.bcm.edu	37	10	63760062	63760062	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:63760062A>G	ENST00000279873.7	+	4	1125	c.715A>G	c.(715-717)Agt>Ggt	p.S239G		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	239					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGAAAACGAGAGTATATGCGA	0.483																																					p.S239G		Atlas-SNP	.											.	ARID5B	125	.	0			c.A715G						.						73.0	65.0	68.0					10																	63760062		2203	4300	6503	SO:0001583	missense	84159	exon4			AACGAGAGTATAT	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.715A>G	chr10.hg19:g.63760062A>G	ENSP00000279873:p.Ser239Gly	91.0	0.0		71.0	29.0	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	hg19	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587724	0.66105	.	.	ENSG00000150347	ENST00000279873	T	0.22945	1.93	5.65	5.65	0.86999	.	0.159507	0.64402	D	0.000002	T	0.48624	0.1510	M	0.64997	1.995	0.80722	D	1	D;P	0.67145	0.996;0.539	D;B	0.73380	0.98;0.132	T	0.44636	-0.9315	10	0.51188	T	0.08	-13.4659	15.8734	0.79141	1.0:0.0:0.0:0.0	.	239;239	Q14865-3;Q14865	.;ARI5B_HUMAN	G	239	ENSP00000279873:S239G	ENSP00000279873:S239G	S	+	1	0	ARID5B	63430068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.147000	0.66899	0.459000	0.35465	AGT	.	.		0.483	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
ZNF365	22891	hgsc.bcm.edu	37	10	64415185	64415185	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:64415185C>T	ENST00000395251.1	+	4	519	c.185C>T	c.(184-186)aCc>aTc	p.T62I	AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62			T -> A (in dbSNP:rs7076156). {ECO:0000269|PubMed:12740763}.							breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACCATCTCACCTTCCAACCT	0.502																																					p.T62I		Atlas-SNP	.											.	ZNF365	174	.	0			c.C185T						.						97.0	84.0	88.0					10																	64415185		2203	4300	6503	SO:0001583	missense	22891	exon4			ATCTCACCTTCCA	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.185C>T	chr10.hg19:g.64415185C>T	ENSP00000378672:p.Thr62Ile	140.0	0.0		133.0	63.0	NM_199452		Missense_Mutation	SNP	ENST00000395251.1	hg19	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	2.723	-0.266088	0.05754	.	.	ENSG00000138311	ENST00000395251	T	0.52983	0.64	3.86	-5.03	0.02973	.	.	.	.	.	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.19910	-1.0291	9	0.87932	D	0	.	5.7985	0.18399	0.0:0.1967:0.2756:0.5277	.	62	Q70YC4	TALAN_HUMAN	I	62	ENSP00000378672:T62I	ENSP00000378672:T62I	T	+	2	0	ZNF365	64085191	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.625000	0.05534	-1.153000	0.02829	-1.686000	0.00732	ACC	.	.		0.502	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
ZNF365	22891	hgsc.bcm.edu	37	10	64425949	64425949	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:64425949A>C	ENST00000395251.1	+	6	877	c.543A>C	c.(541-543)caA>caC	p.Q181H	ZNF365_ENST00000410046.3_Missense_Mutation_p.Q427H|ZNF365_ENST00000395249.1_Missense_Mutation_p.Q33H	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	181										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GACAACTCCAAAATTGTGTGA	0.413																																					p.Q427H		Atlas-SNP	.											.	ZNF365	174	.	0			c.A1281C						.						120.0	116.0	117.0					10																	64425949		2203	4300	6503	SO:0001583	missense	22891	exon7			ACTCCAAAATTGT	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.543A>C	chr10.hg19:g.64425949A>C	ENSP00000378672:p.Gln181His	65.0	0.0		45.0	13.0	NM_199451		Missense_Mutation	SNP	ENST00000395251.1	hg19	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	A	7.044	0.563189	0.13498	.	.	ENSG00000138311	ENST00000410046;ENST00000395251;ENST00000395249	T	0.53206	0.63	4.18	3.04	0.35103	.	.	.	.	.	T	0.43010	0.1228	N	0.08118	0	0.09310	N	1	D;P	0.69078	0.997;0.899	D;P	0.65684	0.937;0.466	T	0.18871	-1.0323	9	0.87932	D	0	-23.8911	6.6771	0.23100	0.8928:0.0:0.1072:0.0	.	181;427	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	H	427;181;33	ENSP00000378672:Q181H	ENSP00000378670:Q33H	Q	+	3	2	ZNF365	64095955	0.000000	0.05858	0.014000	0.15608	0.060000	0.15804	0.623000	0.24447	0.921000	0.36994	0.533000	0.62120	CAA	.	.		0.413	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
TET1	80312	hgsc.bcm.edu	37	10	70332525	70332525	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:70332525A>G	ENST00000373644.4	+	2	639	c.430A>G	c.(430-432)Ata>Gta	p.I144V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	144					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGATTATAAGATACTCCCTGC	0.428																																					p.I144V		Atlas-SNP	.											.	TET1	255	.	0			c.A430G						.						70.0	67.0	68.0					10																	70332525		2203	4300	6503	SO:0001583	missense	80312	exon2			TATAAGATACTCC	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.430A>G	chr10.hg19:g.70332525A>G	ENSP00000362748:p.Ile144Val	78.0	0.0		55.0	41.0	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	hg19	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.332159	0.00227	.	.	ENSG00000138336	ENST00000373644	T	0.05717	3.4	4.52	2.56	0.30785	.	0.961556	0.08517	N	0.934124	T	0.02418	0.0074	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.02654	T	1	.	6.5955	0.22669	0.1021:0.181:0.7169:0.0	.	144	Q8NFU7	TET1_HUMAN	V	144	ENSP00000362748:I144V	ENSP00000362748:I144V	I	+	1	0	TET1	70002531	0.000000	0.05858	0.001000	0.08648	0.651000	0.38670	0.726000	0.25984	0.283000	0.22279	-0.468000	0.05107	ATA	.	.		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
DDX50	79009	hgsc.bcm.edu	37	10	70666604	70666604	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:70666604A>G	ENST00000373585.3	+	2	332	c.225A>G	c.(223-225)gaA>gaG	p.E75E		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	75						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GAGACACTGAAGAAGGATTTA	0.328																																					p.E75E		Atlas-SNP	.											.	DDX50	65	.	0			c.A225G						.						76.0	79.0	78.0					10																	70666604		2203	4300	6503	SO:0001819	synonymous_variant	79009	exon2			CACTGAAGAAGGA	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.225A>G	chr10.hg19:g.70666604A>G		231.0	0.0		212.0	81.0	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	hg19	CCDS7283.1																																																																																			.	.		0.328	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
DDX50	79009	hgsc.bcm.edu	37	10	70670895	70670895	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:70670895A>T	ENST00000373585.3	+	4	639	c.532A>T	c.(532-534)Ata>Tta	p.I178L	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	178	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAAAGATTTAATAGCTCAAGC	0.353																																					p.I178L		Atlas-SNP	.											.	DDX50	65	.	0			c.A532T						.						143.0	148.0	146.0					10																	70670895		2203	4300	6503	SO:0001583	missense	79009	exon4			GATTTAATAGCTC	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.532A>T	chr10.hg19:g.70670895A>T	ENSP00000362687:p.Ile178Leu	195.0	1.0		190.0	104.0	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	hg19	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844485	0.71488	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.12255	2.7	5.22	4.08	0.47627	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.146646	0.64402	D	0.000007	T	0.09423	0.0232	N	0.05592	-0.015	0.39725	D	0.971527	B;B	0.32939	0.391;0.334	B;B	0.42916	0.31;0.402	T	0.32295	-0.9912	10	0.34782	T	0.22	-12.4976	8.1397	0.31076	0.8472:0.0:0.1528:0.0	.	178;178	Q9BQ39;B4DED6	DDX50_HUMAN;.	L	178	ENSP00000362687:I178L	ENSP00000362687:I178L	I	+	1	0	DDX50	70340901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.388000	0.52509	2.099000	0.63709	0.397000	0.26171	ATA	.	.		0.353	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
SUPV3L1	6832	hgsc.bcm.edu	37	10	70968759	70968759	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:70968759A>T	ENST00000359655.4	+	15	2389	c.2329A>T	c.(2329-2331)Aga>Tga	p.R777*		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	777	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAAAGGGACGAGAAGAAAGAA	0.343																																					p.R777X		Atlas-SNP	.											.	SUPV3L1	61	.	0			c.A2329T						.						64.0	63.0	63.0					10																	70968759		2203	4300	6503	SO:0001587	stop_gained	6832	exon15			GGGACGAGAAGAA	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2329A>T	chr10.hg19:g.70968759A>T	ENSP00000352678:p.Arg777*	56.0	0.0		56.0	20.0	NM_003171	A8K301|O43630	Nonsense_Mutation	SNP	ENST00000359655.4	hg19	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726700	0.89298	.	.	ENSG00000156502	ENST00000359655	.	.	.	6.16	-0.671	0.11381	.	0.164812	0.53938	D	0.000048	.	.	.	.	.	.	0.49389	D	0.999788	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0135	5.022	0.14365	0.3461:0.4671:0.0781:0.1086	.	.	.	.	X	777	.	ENSP00000352678:R777X	R	+	1	2	SUPV3L1	70638765	0.004000	0.15560	0.002000	0.10522	0.390000	0.30446	0.157000	0.16402	-0.341000	0.08376	0.528000	0.53228	AGA	.	.		0.343	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171	
CDH23	64072	hgsc.bcm.edu	37	10	73269837	73269837	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:73269837A>T	ENST00000224721.6	+	3	150		c.e3-1		CDH23_ENST00000398842.3_Splice_Site|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000299366.7_Splice_Site|CDH23_ENST00000398809.4_Splice_Site|CDH23_ENST00000461841.3_Splice_Site	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23						calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCTACTCCAGGTTCTTCTG	0.562																																					.		Atlas-SNP	.											.	CDH23	365	.	0			c.146-2A>T						.						91.0	100.0	97.0					10																	73269837		1993	4170	6163	SO:0001630	splice_region_variant	64072	exon4			TACTCCAGGTTCT	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.146-1A>T	chr10.hg19:g.73269837A>T		59.0	0.0		41.0	18.0	NM_001171931	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Splice_Site	SNP	ENST00000224721.6	hg19		.	.	.	.	.	.	.	.	.	.	A	21.7	4.185321	0.78677	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.057	0.71921	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH23	72939843	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.460000	0.73518	2.028000	0.59812	0.456000	0.33151	.	.	.		0.562	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	Intron
NDST2	8509	hgsc.bcm.edu	37	10	75567441	75567441	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:75567441T>C	ENST00000309979.6	-	3	1262	c.706A>G	c.(706-708)Aca>Gca	p.T236A	NDST2_ENST00000299641.4_Missense_Mutation_p.T113A|NDST2_ENST00000398701.2_5'Flank|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.T236A			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	236	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGTTCATATGTACTATGATTG	0.592																																					p.T236A		Atlas-SNP	.											.	NDST2	53	.	0			c.A706G						.						68.0	62.0	64.0					10																	75567441		2203	4300	6503	SO:0001583	missense	8509	exon3			CATATGTACTATG	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.706A>G	chr10.hg19:g.75567441T>C	ENSP00000310657:p.Thr236Ala	91.0	0.0		53.0	19.0	NM_003635	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	hg19	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958796	0.53400	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.47869	1.12;0.83	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.62088	1.915	0.80722	D	1	P;P	0.52692	0.882;0.955	P;P	0.61070	0.812;0.883	T	0.63839	-0.6546	10	0.48119	T	0.1	.	16.4504	0.83984	0.0:0.0:0.0:1.0	.	113;236	B4E139;P52849	.;NDST2_HUMAN	A	236;113	ENSP00000310657:T236A;ENSP00000299641:T113A	ENSP00000299641:T113A	T	-	1	0	NDST2	75237447	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.277000	0.72608	2.288000	0.76882	0.533000	0.62120	ACA	.	.		0.592	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
KAT6B	23522	hgsc.bcm.edu	37	10	76788413	76788413	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:76788413A>T	ENST00000287239.4	+	18	4320	c.3831A>T	c.(3829-3831)ccA>ccT	p.P1277P	KAT6B_ENST00000372725.1_Silent_p.P985P|KAT6B_ENST00000372724.1_Silent_p.P985P|KAT6B_ENST00000372714.1_Silent_p.P985P|KAT6B_ENST00000372711.1_Silent_p.P1094P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1277					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)										ACACCCCGCCAGAAACACCCA	0.498																																					p.P1277P		Atlas-SNP	.											.	.	.	.	0			c.A3831T						.						80.0	78.0	79.0					10																	76788413		2203	4300	6503	SO:0001819	synonymous_variant	23522	exon18			CCCGCCAGAAACA	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.3831A>T	chr10.hg19:g.76788413A>T		51.0	0.0		60.0	38.0	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	ENST00000287239.4	hg19	CCDS7345.1																																																																																			.	.		0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
DLG5	9231	hgsc.bcm.edu	37	10	79601686	79601686	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:79601686T>C	ENST00000372391.2	-	7	1395	c.1390A>G	c.(1390-1392)Aca>Gca	p.T464A	DLG5_ENST00000372388.2_Missense_Mutation_p.T464A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	464					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTCTCAGATGTGCTGCTCTTG	0.602																																					p.T464A		Atlas-SNP	.											.	DLG5	154	.	0			c.A1390G						.						104.0	83.0	90.0					10																	79601686		2203	4300	6503	SO:0001583	missense	9231	exon7			CAGATGTGCTGCT	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1390A>G	chr10.hg19:g.79601686T>C	ENSP00000361467:p.Thr464Ala	54.0	0.0		43.0	17.0	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	hg19	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949901	0.34377	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04015	3.73;3.74	5.69	3.23	0.37069	.	0.000000	0.38492	N	0.001662	T	0.02156	0.0067	N	0.03608	-0.345	0.27614	N	0.94856	B;B;B	0.34290	0.447;0.319;0.004	B;B;B	0.36030	0.216;0.107;0.005	T	0.42430	-0.9452	10	0.25751	T	0.34	.	5.0616	0.14560	0.3121:0.086:0.0:0.6019	.	354;464;464	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	A	464	ENSP00000361467:T464A;ENSP00000361464:T464A	ENSP00000361464:T464A	T	-	1	0	DLG5	79271692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.448000	0.73469	0.995000	0.38917	0.460000	0.39030	ACA	.	.		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
DYDC1	143241	hgsc.bcm.edu	37	10	82102044	82102044	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:82102044G>C	ENST00000372204.3	-	5	487	c.323C>G	c.(322-324)gCt>gGt	p.A108G	DYDC2_ENST00000372199.1_5'Flank|DYDC1_ENST00000372202.1_Missense_Mutation_p.A108G|DYDC2_ENST00000372198.1_5'Flank|DYDC1_ENST00000421924.2_Missense_Mutation_p.A108G|DYDC2_ENST00000372197.1_5'Flank	NM_138812.3	NP_620167.1	Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	108										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			TTGTTCTTGAGCTCTCTGTAG	0.338																																					p.A108G		Atlas-SNP	.											.	DYDC1	15	.	0			c.C323G						.						176.0	162.0	167.0					10																	82102044		2203	4300	6503	SO:0001583	missense	143241	exon4			TCTTGAGCTCTCT	BC019250	CCDS7366.1	10q22.3	2006-02-01			ENSG00000170788	ENSG00000170788			23460	protein-coding gene	gene with protein product		615154					Standard	NM_138812		Approved	bA36D19.5, DPY30D1	uc031pwj.1	Q8WWB3	OTTHUMG00000018609	ENST00000372204.3:c.323C>G	chr10.hg19:g.82102044G>C	ENSP00000361278:p.Ala108Gly	84.0	0.0		67.0	29.0	NM_001269053	A8K927|Q5QP03|Q5QP04|Q6WNP4|Q6ZU87	Missense_Mutation	SNP	ENST00000372204.3	hg19	CCDS7366.1	.	.	.	.	.	.	.	.	.	.	G	6.124	0.391113	0.11581	.	.	ENSG00000170788	ENST00000372204;ENST00000372202;ENST00000421924;ENST00000454362	.	.	.	3.94	-0.0574	0.13801	.	0.627980	0.15158	N	0.277327	T	0.17450	0.0419	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.13953	-1.0490	9	0.30078	T	0.28	-0.3534	1.0807	0.01642	0.2079:0.177:0.4331:0.182	.	108;108	A8K927;Q8WWB3	.;DYDC1_HUMAN	G	108	.	ENSP00000361276:A108G	A	-	2	0	DYDC1	82092024	0.000000	0.05858	0.067000	0.19924	0.989000	0.77384	-0.141000	0.10327	-0.002000	0.14469	0.655000	0.94253	GCT	.	.		0.338	DYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049059.1	NM_138812	
LRIT1	26103	hgsc.bcm.edu	37	10	85991913	85991913	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:85991913A>T	ENST00000372105.3	-	4	1663	c.1642T>A	c.(1642-1644)Tgc>Agc	p.C548S		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	548						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCACTGCAGCAGACAAGCAGC	0.537																																					p.C548S		Atlas-SNP	.											.	LRIT1	73	.	0			c.T1642A						.						110.0	88.0	96.0					10																	85991913		2203	4300	6503	SO:0001583	missense	26103	exon4			TGCAGCAGACAAG	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1642T>A	chr10.hg19:g.85991913A>T	ENSP00000361177:p.Cys548Ser	88.0	0.0		95.0	36.0	NM_015613	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	hg19	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342176	0.61073	.	.	ENSG00000148602	ENST00000372105	T	0.38560	1.13	5.49	4.34	0.51931	.	0.047002	0.85682	D	0.000000	T	0.56396	0.1982	M	0.77313	2.365	0.80722	D	1	D	0.59357	0.985	P	0.54664	0.758	T	0.58831	-0.7567	10	0.49607	T	0.09	.	11.7523	0.51855	0.8522:0.1478:0.0:0.0	.	548	Q9P2V4	LRIT1_HUMAN	S	548	ENSP00000361177:C548S	ENSP00000361177:C548S	C	-	1	0	LRIT1	85981893	1.000000	0.71417	0.995000	0.50966	0.262000	0.26303	4.173000	0.58249	0.899000	0.36444	0.383000	0.25322	TGC	.	.		0.537	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
CCSER2	54462	hgsc.bcm.edu	37	10	86259681	86259681	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:86259681G>A	ENST00000224756.8	+	10	2561	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G	CCSER2_ENST00000543283.1_Silent_p.G219G|CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000494144.1_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	792					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CCTTCCAGGGGATCCCACGGA	0.542																																					p.G792G		Atlas-SNP	.											.	CCSER2	7	.	0			c.G2376A						.						129.0	114.0	119.0					10																	86259681		2203	4300	6503	SO:0001819	synonymous_variant	54462	exon10			CCAGGGGATCCCA		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2376G>A	chr10.hg19:g.86259681G>A		87.0	0.0		56.0	24.0	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	hg19	CCDS31235.1																																																																																			.	.		0.542	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
SLC16A12	387700	hgsc.bcm.edu	37	10	91198482	91198482	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:91198482A>G	ENST00000341233.4	-	6	1207	c.817T>C	c.(817-819)Tac>Cac	p.Y273H	SLC16A12_ENST00000371790.4_Missense_Mutation_p.Y303H	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGCACCAAGTACACAAAGAGA	0.423																																					p.Y303H		Atlas-SNP	.											.	SLC16A12	40	.	0			c.T907C						.						90.0	79.0	83.0					10																	91198482		2203	4300	6503	SO:0001583	missense	387700	exon6			CCAAGTACACAAA		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.817T>C	chr10.hg19:g.91198482A>G	ENSP00000343022:p.Tyr273His	119.0	0.0		60.0	41.0	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	hg19		.	.	.	.	.	.	.	.	.	.	A	3.946	-0.013147	0.07727	.	.	ENSG00000152779	ENST00000341233;ENST00000371790;ENST00000544887	D;D	0.82619	-1.63;-1.63	5.92	3.62	0.41486	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.103889	0.64402	N	0.000002	T	0.67571	0.2907	N	0.21448	0.665	0.48452	D	0.999656	B	0.20368	0.044	B	0.25614	0.062	T	0.56013	-0.8049	10	0.02654	T	1	.	9.5404	0.39248	0.8589:0.0:0.1411:0.0	.	273	Q6ZSM3	MOT12_HUMAN	H	273;303;80	ENSP00000343022:Y273H;ENSP00000360855:Y303H	ENSP00000343022:Y273H	Y	-	1	0	SLC16A12	91188462	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.527000	0.60573	0.514000	0.28300	0.459000	0.35465	TAC	.	.		0.423	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
KIF20B	9585	hgsc.bcm.edu	37	10	91469185	91469185	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:91469185A>G	ENST00000371728.3	+	4	383	c.318A>G	c.(316-318)tcA>tcG	p.S106S	KIF20B_ENST00000416354.1_Silent_p.S106S|KIF20B_ENST00000260753.4_Silent_p.S106S|KIF20B_ENST00000394289.2_Silent_p.S106S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAGCTCAGGGCAGATGG	0.398																																					p.S106S		Atlas-SNP	.											.	KIF20B	191	.	0			c.A318G						.						98.0	97.0	97.0					10																	91469185		2203	4300	6503	SO:0001819	synonymous_variant	9585	exon4			AAGCTCAGGGCAG	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.318A>G	chr10.hg19:g.91469185A>G		174.0	1.0		69.0	53.0	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	hg19																																																																																				.	.		0.398	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
CEP55	55165	hgsc.bcm.edu	37	10	95259889	95259889	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:95259889A>T	ENST00000371485.3	+	2	385	c.81A>T	c.(79-81)ttA>ttT	p.L27F		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	27					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAACTACATTAGAAAAATTAA	0.368																																					p.L27F		Atlas-SNP	.											.	CEP55	35	.	0			c.A81T						.						137.0	151.0	147.0					10																	95259889		2203	4300	6503	SO:0001583	missense	55165	exon2			TACATTAGAAAAA	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.81A>T	chr10.hg19:g.95259889A>T	ENSP00000360540:p.Leu27Phe	147.0	1.0		47.0	38.0	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	hg19	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.448465	0.43429	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.29655	1.56	5.24	4.11	0.48088	.	0.082950	0.49305	D	0.000147	T	0.45935	0.1367	M	0.62723	1.935	0.39086	D	0.960994	D	0.89917	1.0	D	0.83275	0.996	T	0.49652	-0.8917	10	0.72032	D	0.01	-7.3219	3.7919	0.08724	0.6718:0.0:0.1698:0.1583	.	27	Q53EZ4	CEP55_HUMAN	F	27	ENSP00000360540:L27F	ENSP00000351102:L27F	L	+	3	2	CEP55	95249879	1.000000	0.71417	0.995000	0.50966	0.304000	0.27724	0.922000	0.28734	0.954000	0.37851	0.455000	0.32223	TTA	.	.		0.368	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
BLNK	29760	hgsc.bcm.edu	37	10	97976426	97976426	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:97976426G>A	ENST00000224337.5	-	7	731	c.590C>T	c.(589-591)tCa>tTa	p.S197L	BLNK_ENST00000427367.2_Missense_Mutation_p.S197L|BLNK_ENST00000413476.2_Missense_Mutation_p.S197L|BLNK_ENST00000371176.2_Missense_Mutation_p.S197L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	197	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGGTGGAGGTGAACTGCTTTC	0.383																																					p.S197L		Atlas-SNP	.											.	BLNK	46	.	0			c.C590T						.						140.0	124.0	130.0					10																	97976426		2203	4300	6503	SO:0001583	missense	29760	exon7			GGAGGTGAACTGC	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.590C>T	chr10.hg19:g.97976426G>A	ENSP00000224337:p.Ser197Leu	156.0	0.0		68.0	49.0	NM_001114094	O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	hg19	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107690	0.37242	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000428924	.	.	.	5.1	4.19	0.49359	.	0.901140	0.09577	N	0.783345	T	0.26448	0.0646	N	0.17474	0.49	0.21147	N	0.99977	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.002	B;B;B;B;B	0.10450	0.002;0.005;0.003;0.001;0.002	T	0.09618	-1.0666	9	0.20519	T	0.43	-0.4666	8.5464	0.33424	0.1032:0.0:0.8968:0.0	.	197;197;197;197;197	Q2MD54;Q2MD49;Q8WV28-2;Q2MD52;Q8WV28	.;.;.;.;BLNK_HUMAN	L	197	.	ENSP00000224337:S197L	S	-	2	0	BLNK	97966416	0.981000	0.34729	0.706000	0.30403	0.898000	0.52572	3.153000	0.50685	2.375000	0.81037	0.655000	0.94253	TCA	.	.		0.383	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	
TLL2	7093	hgsc.bcm.edu	37	10	98145897	98145897	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:98145897T>G	ENST00000357947.3	-	15	2153	c.1928A>C	c.(1927-1929)aAc>aCc	p.N643T		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	643	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACAGTTTTTGTTTGTGGGATA	0.537																																					p.N643T		Atlas-SNP	.											.	TLL2	122	.	0			c.A1928C						.						116.0	111.0	113.0					10																	98145897		2203	4300	6503	SO:0001583	missense	7093	exon15			TTTTTGTTTGTGG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1928A>C	chr10.hg19:g.98145897T>G	ENSP00000350630:p.Asn643Thr	59.0	0.0		31.0	19.0	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	hg19	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594186	0.86953	.	.	ENSG00000095587	ENST00000357947	T	0.34472	1.36	4.98	4.98	0.66077	CUB (5);	0.000000	0.49305	D	0.000147	T	0.68842	0.3045	M	0.93507	3.425	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77699	-0.2490	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:0.0:1.0	.	643	Q9Y6L7	TLL2_HUMAN	T	643	ENSP00000350630:N643T	ENSP00000350630:N643T	N	-	2	0	TLL2	98135887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.090000	0.71397	2.228000	0.72767	0.477000	0.44152	AAC	.	.		0.537	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
CALHM3	119395	hgsc.bcm.edu	37	10	105236257	105236257	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:105236257A>T	ENST00000369783.4	-	2	544	c.337T>A	c.(337-339)Tgg>Agg	p.W113R		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	113					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)	2						AGCAGGATCCAGACCAGGGGG	0.622																																					p.W113R		Atlas-SNP	.											.	CALHM3	46	.	0			c.T337A						.						27.0	27.0	27.0					10																	105236257		692	1591	2283	SO:0001583	missense	119395	exon2			GGATCCAGACCAG	BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.337T>A	chr10.hg19:g.105236257A>T	ENSP00000358798:p.Trp113Arg	140.0	0.0		56.0	39.0	NM_001129742	Q5W090|Q8IXR2	Missense_Mutation	SNP	ENST00000369783.4	hg19	CCDS44476.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740109	0.89573	.	.	ENSG00000183128	ENST00000369783	T	0.38722	1.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73672	-0.3909	10	0.87932	D	0	-9.928	15.554	0.76177	1.0:0.0:0.0:0.0	.	113	Q86XJ0-2	.	R	113	ENSP00000358798:W113R	ENSP00000358798:W113R	W	-	1	0	CALHM3	105226247	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.789000	0.91839	2.083000	0.62718	0.379000	0.24179	TGG	.	.		0.622	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050157.1	NM_182494	
TDRD1	56165	hgsc.bcm.edu	37	10	115947807	115947807	+	Missense_Mutation	SNP	A	A	T	rs540561593		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:115947807A>T	ENST00000369280.1	+	2	677	c.217A>T	c.(217-219)Acc>Tcc	p.T73S	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.T73S|TDRD1_ENST00000251864.2_Missense_Mutation_p.T73S|TDRD1_ENST00000369281.2_Missense_Mutation_p.T73S			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	73					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTGTGAGCAAACCAAACAATA	0.388																																					p.T73S		Atlas-SNP	.											.	TDRD1	126	.	0			c.A217T						.						99.0	106.0	104.0					10																	115947807		2203	4300	6503	SO:0001583	missense	56165	exon2			GAGCAAACCAAAC	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.217A>T	chr10.hg19:g.115947807A>T	ENSP00000358286:p.Thr73Ser	178.0	1.0		97.0	83.0	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.54	2.566445	0.45694	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.44	4.3	0.51218	.	0.208436	0.33732	N	0.004618	T	0.26702	0.0653	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.26081	0.087;0.051;0.141;0.084	B;B;B;B	0.26202	0.03;0.016;0.067;0.037	T	0.06445	-1.0826	10	0.52906	T	0.07	-4.7262	7.9624	0.30079	0.9067:0.0:0.0933:0.0	.	73;73;73;73	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	S	73	ENSP00000358288:T73S;ENSP00000251864:T73S;ENSP00000358287:T73S;ENSP00000358286:T73S	ENSP00000251864:T73S	T	+	1	0	TDRD1	115937797	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.504000	0.35726	0.901000	0.36495	0.460000	0.39030	ACC	.	.		0.388	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
DMBT1	1755	hgsc.bcm.edu	37	10	124402796	124402796	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:124402796A>G	ENST00000338354.3	+	53	7230	c.7124A>G	c.(7123-7125)tAc>tGc	p.Y2375C	DMBT1_ENST00000368955.3_Missense_Mutation_p.Y2365C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y1747C|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y1747C|DMBT1_ENST00000359586.6_Missense_Mutation_p.Y1095C|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y2365C|DMBT1_ENST00000368909.3_Missense_Mutation_p.Y2375C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2375	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCGCTGCTACCGAGGCTGT	0.607																																					p.Y2375C	Ovarian(182;93 2026 18125 22222 38972)	Atlas-SNP	.											.	DMBT1	677	.	0			c.A7124G						.						120.0	123.0	122.0					10																	124402796		2082	4220	6302	SO:0001583	missense	1755	exon53			GCTGCTACCGAGG		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7124A>G	chr10.hg19:g.124402796A>G	ENSP00000342210:p.Tyr2375Cys	144.0	0.0		72.0	52.0	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	hg19		.	.	.	.	.	.	.	.	.	.	A	10.91	1.484289	0.26598	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.28	-0.279	0.12890	Zona pellucida sperm-binding protein (3);	1.136700	0.07003	U	0.823658	D	0.84999	0.5597	L	0.53249	1.67	0.09310	N	1	D;D;D;D;D;D;D	0.64830	0.973;0.994;0.973;0.973;0.973;0.973;0.978	P;D;P;P;P;P;P	0.63877	0.634;0.919;0.513;0.614;0.614;0.614;0.733	T	0.69960	-0.5003	10	0.59425	D	0.04	.	1.9907	0.03445	0.4922:0.1221:0.2672:0.1186	.	1095;2355;1624;2504;1747;2365;2375	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	C	2375;2504;2375;2375;2375;2374;1747;2365;1747;1747;2375;2365;1747;521;1095	ENSP00000342210:Y2375C;ENSP00000343175:Y2365C;ENSP00000327747:Y1747C;ENSP00000357905:Y2375C;ENSP00000357951:Y2365C;ENSP00000357952:Y1747C;ENSP00000352593:Y1095C	ENSP00000331522:Y1747C	Y	+	2	0	DMBT1	124392786	0.001000	0.12720	0.015000	0.15790	0.027000	0.11550	0.268000	0.18571	0.003000	0.14656	0.533000	0.62120	TAC	.	.		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
PTPRE	5791	hgsc.bcm.edu	37	10	129869164	129869164	+	Splice_Site	SNP	G	G	T	rs143511195		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:129869164G>T	ENST00000254667.3	+	15	1665	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	PTPRE_ENST00000306042.5_Splice_Site_p.P404P|PTPRE_ENST00000419012.2_Splice_Site_p.P462P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	462	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AGATCATCCCGTGTAAGGCAC	0.587																																					p.P462P	Colon(52;977 1184 20575 41685)	Atlas-SNP	.											.	PTPRE	132	.	0			c.G1386T						.						56.0	55.0	55.0					10																	129869164		2203	4300	6503	SO:0001630	splice_region_variant	5791	exon15			CATCCCGTGTAAG	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1387+1G>T	chr10.hg19:g.129869164G>T		68.0	0.0		34.0	23.0	NM_006504	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	hg19	CCDS7657.1																																																																																			.	G|1.000;C|0.000		0.587	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		Silent
CFAP46	54777	hgsc.bcm.edu	37	10	134659626	134659626	+	Missense_Mutation	SNP	A	A	T	rs10870341	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:134659626A>T	ENST00000368586.5	-	44	6473	c.6373T>A	c.(6373-6375)Tgc>Agc	p.C2125S	TTC40_ENST00000263170.5_Missense_Mutation_p.C286S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGTCTTGGCACCGGAGCTGG	0.672																																					p.C2125S		Atlas-SNP	.											.	TTC40	100	.	0			c.T6373A						.						36.0	37.0	36.0					10																	134659626		2199	4300	6499	SO:0001583	missense	54777	exon44			CTTGGCACCGGAG																												ENST00000368586.5:c.6373T>A	chr10.hg19:g.134659626A>T	ENSP00000357575:p.Cys2125Ser	33.0	0.0		25.0	10.0	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	hg19	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586633	0.00872	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.10668	3.08;2.85	4.38	-1.49	0.08718	.	1.969230	0.02798	N	0.122830	T	0.04363	0.0120	N	0.03608	-0.345	0.80722	P	0.0	B	0.13594	0.008	B	0.11329	0.006	T	0.34229	-0.9837	9	0.07030	T	0.85	.	6.2058	0.20602	0.307:0.2289:0.4641:0.0	.	286	Q8IYW2	CJ092_HUMAN	S	2125;286	ENSP00000357575:C2125S;ENSP00000263170:C286S	ENSP00000263170:C286S	C	-	1	0	C10orf93	134509616	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.032000	0.13732	-0.729000	0.04875	-3.198000	0.00054	TGC	.	A|0.840;G|0.160		0.672	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
CFAP46	54777	hgsc.bcm.edu	37	10	134712524	134712524	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:134712524T>A	ENST00000368586.5	-	24	3258	c.3158A>T	c.(3157-3159)aAg>aTg	p.K1053M	TTC40_ENST00000368582.2_Missense_Mutation_p.K1053M	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACCCTTGGCCTTCTTCCTGTA	0.637																																					p.K1053M		Atlas-SNP	.											.	TTC40	100	.	0			c.A3158T						.																																			SO:0001583	missense	54777	exon24			TTGGCCTTCTTCC																												ENST00000368586.5:c.3158A>T	chr10.hg19:g.134712524T>A	ENSP00000357575:p.Lys1053Met	137.0	0.0		74.0	36.0	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	hg19	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463886	0.43736	.	.	ENSG00000171811	ENST00000368586;ENST00000368582	T;T	0.77489	-1.1;-1.1	4.14	1.64	0.23874	.	.	.	.	.	D	0.82995	0.5158	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.67382	0.951	T	0.69499	-0.5129	8	0.54805	T	0.06	.	6.2955	0.21083	0.0:0.2222:0.0:0.7778	.	1053	Q5SR76	CJ093_HUMAN	M	1053	ENSP00000357575:K1053M;ENSP00000357571:K1053M	ENSP00000357571:K1053M	K	-	2	0	C10orf93	134562514	0.100000	0.21855	0.019000	0.16419	0.072000	0.16883	0.091000	0.15046	0.443000	0.26582	0.379000	0.24179	AAG	.	.		0.637	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
KNDC1	85442	hgsc.bcm.edu	37	10	135013094	135013094	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr10:135013094C>G	ENST00000304613.3	+	15	2912	c.2891C>G	c.(2890-2892)tCa>tGa	p.S964*	KNDC1_ENST00000368571.2_Nonsense_Mutation_p.S899*|KNDC1_ENST00000368572.2_Nonsense_Mutation_p.S966*			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	964					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGCAGGCGTCACCCTCCCCA	0.617																																					p.S964X		Atlas-SNP	.											.	KNDC1	155	.	0			c.C2891G						.						102.0	96.0	98.0					10																	135013094		2203	4300	6503	SO:0001587	stop_gained	85442	exon15			AGGCGTCACCCTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2891C>G	chr10.hg19:g.135013094C>G	ENSP00000304437:p.Ser964*	69.0	0.0		30.0	23.0	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Nonsense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	41	8.969022	0.99019	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	.	.	.	3.99	3.99	0.46301	.	0.546471	0.16936	N	0.193497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.3181	13.9012	0.63804	0.0:1.0:0.0:0.0	.	.	.	.	X	964;966;899	.	ENSP00000304437:S964X	S	+	2	0	KNDC1	134863084	0.011000	0.17503	0.003000	0.11579	0.076000	0.17211	2.587000	0.46128	1.957000	0.56846	0.313000	0.20887	TCA	.	.		0.617	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
ANO9	338440	hgsc.bcm.edu	37	11	430368	430368	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:430368A>T	ENST00000332826.6	-	8	659	c.575T>A	c.(574-576)gTc>gAc	p.V192D		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	192					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCCAGCCAGACGAAGTACAG	0.622																																					p.V192D		Atlas-SNP	.											.	ANO9	61	.	0			c.T575A						.						22.0	25.0	24.0					11																	430368		2192	4290	6482	SO:0001583	missense	338440	exon8			AGCCAGACGAAGT	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.575T>A	chr11.hg19:g.430368A>T	ENSP00000332788:p.Val192Asp	233.0	1.0		97.0	85.0	NM_001012302	B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	hg19	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508809	0.44660	.	.	ENSG00000185101	ENST00000332826	T	0.63255	-0.03	4.21	3.29	0.37713	.	0.427052	0.21377	U	0.075534	T	0.49983	0.1589	L	0.34521	1.04	0.43126	D	0.994859	B	0.32245	0.361	B	0.30251	0.113	T	0.56001	-0.8051	10	0.87932	D	0	.	12.3967	0.55389	0.083:0.0:0.917:0.0	.	192	A1A5B4	ANO9_HUMAN	D	192	ENSP00000332788:V192D	ENSP00000332788:V192D	V	-	2	0	ANO9	420368	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	4.789000	0.62446	1.158000	0.42547	-0.373000	0.07131	GTC	.	.		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
PIDD1	55367	hgsc.bcm.edu	37	11	801093	801093	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:801093T>A	ENST00000347755.5	-	10	1799	c.1658A>T	c.(1657-1659)cAc>cTc	p.H553L	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Missense_Mutation_p.H553L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GTACAACAGGTGCAGGCGGGA	0.667																																					p.H553L		Atlas-SNP	.											.	PIDD	76	.	0			c.A1658T						.						28.0	23.0	25.0					11																	801093		2181	4287	6468	SO:0001583	missense	55367	exon10			AACAGGTGCAGGC																												ENST00000347755.5:c.1658A>T	chr11.hg19:g.801093T>A	ENSP00000337797:p.His553Leu	64.0	0.0		21.0	14.0	NM_145887		Missense_Mutation	SNP	ENST00000347755.5	hg19	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732976	0.30684	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.39787	1.14;1.06	4.55	4.55	0.56014	ZU5 (1);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.32530	0.975	0.42816	D	0.993974	P;P;P;P	0.48089	0.905;0.717;0.617;0.775	P;B;B;B	0.45610	0.487;0.185;0.23;0.356	T	0.24621	-1.0155	10	0.66056	D	0.02	.	9.3527	0.38149	0.1597:0.0:0.0:0.8403	.	240;553;407;553	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	L	553	ENSP00000416801:H553L;ENSP00000337797:H553L	ENSP00000337797:H553L	H	-	2	0	PIDD	791093	1.000000	0.71417	0.977000	0.42913	0.339000	0.28857	4.652000	0.61454	1.683000	0.51011	0.459000	0.35465	CAC	.	.		0.667	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1		
MUC2	4583	hgsc.bcm.edu	37	11	1083817	1083817	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:1083817C>A	ENST00000441003.2	+	18	2376	c.2349C>A	c.(2347-2349)agC>agA	p.S783R	MUC2_ENST00000359061.5_Missense_Mutation_p.S783R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	783					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGCCCTCAGCTGCCAGACGC	0.687																																					p.S783R		Atlas-SNP	.											.	MUC2	614	.	0			c.C2349A						.						14.0	17.0	16.0					11																	1083817		2081	4202	6283	SO:0001583	missense	4583	exon18			CCTCAGCTGCCAG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2349C>A	chr11.hg19:g.1083817C>A	ENSP00000415183:p.Ser783Arg	72.0	0.0		22.0	20.0	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	hg19		.	.	.	.	.	.	.	.	.	.	C	5.674	0.308911	0.10733	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.27890	1.64;1.64	4.27	3.35	0.38373	.	0.168273	0.35615	U	0.003093	T	0.41558	0.1164	M	0.74647	2.275	0.21527	N	0.999651	D	0.56968	0.978	P	0.51101	0.659	T	0.30937	-0.9961	10	0.56958	D	0.05	.	9.6366	0.39811	0.0:0.895:0.0:0.105	.	783	E7EUV1	.	R	783	ENSP00000415183:S783R;ENSP00000351956:S783R	ENSP00000351956:S783R	S	+	3	2	MUC2	1073817	0.113000	0.22115	0.934000	0.37439	0.054000	0.15201	1.144000	0.31565	1.010000	0.39314	0.455000	0.32223	AGC	.	.		0.687	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1642911	1642911	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:1642911T>C	ENST00000399682.1	-	1	457	c.413A>G	c.(412-414)cAg>cGg	p.Q138R		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAGCTGCACTGGGAGCAGCC	0.652																																					p.Q138R		Atlas-SNP	.											.	KRTAP5-4	78	.	0			c.A413G						.						15.0	29.0	25.0					11																	1642911		691	1587	2278	SO:0001583	missense	387267	exon1			CTGCACTGGGAGC	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.413A>G	chr11.hg19:g.1642911T>C	ENSP00000382590:p.Gln138Arg	111.0	0.0		39.0	31.0	NM_001012709		Missense_Mutation	SNP	ENST00000399682.1	hg19		.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611413	0.00835	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00760	5.73	2.54	2.54	0.30619	.	.	.	.	.	T	0.00815	0.0027	L	0.42529	1.33	0.09310	N	0.999994	B	0.18741	0.03	B	0.13407	0.009	T	0.46048	-0.9219	9	0.18710	T	0.47	.	5.7355	0.18063	0.0:0.0:0.279:0.721	.	198	Q6L8H1	KRA54_HUMAN	R	138	ENSP00000382590:Q138R	ENSP00000331603:Q138R	Q	-	2	0	KRTAP5-4	1599487	0.102000	0.21896	0.025000	0.17156	0.002000	0.02628	0.796000	0.26986	1.180000	0.42898	0.391000	0.25812	CAG	.	.		0.652	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
MRGPRE	116534	hgsc.bcm.edu	37	11	3249418	3249418	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:3249418C>A	ENST00000389832.5	-	2	918	c.612G>T	c.(610-612)gaG>gaT	p.E204D	MRGPRE_ENST00000436689.2_Missense_Mutation_p.E203D|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGGCCTCGCTCCACCCGCA	0.687																																					p.E204D		Atlas-SNP	.											.	MRGPRE	35	.	0			c.G612T						.						5.0	7.0	6.0					11																	3249418		2057	4121	6178	SO:0001583	missense	116534	exon2			GCCTCGCTCCACC	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.612G>T	chr11.hg19:g.3249418C>A	ENSP00000374482:p.Glu204Asp	42.0	0.0		17.0	15.0	NM_001039165	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	hg19		.	.	.	.	.	.	.	.	.	.	c	14.24	2.474951	0.43942	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.9	0.551	0.17225	GPCR, rhodopsin-like superfamily (1);	0.811019	0.10061	U	0.720971	T	0.34542	0.0901	L	0.38838	1.175	0.09310	N	1	D	0.56521	0.976	P	0.57283	0.817	T	0.23726	-1.0180	9	0.12430	T	0.62	-8.9696	3.9179	0.09231	0.1622:0.582:0.158:0.0978	.	203	Q86SM8	MRGRE_HUMAN	D	204;203	.	ENSP00000374482:E203D	E	-	3	2	MRGPRE	3205994	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-0.619000	0.05572	0.260000	0.21731	0.462000	0.41574	GAG	.	.		0.687	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
OR51F2	119694	hgsc.bcm.edu	37	11	4842970	4842970	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:4842970C>A	ENST00000322110.5	+	1	420	c.355C>A	c.(355-357)Cac>Aac	p.H119N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCTTTCTACACGGATTTAC	0.468																																					p.H119N		Atlas-SNP	.											.	OR51F2	72	.	0			c.C355A						.						187.0	165.0	173.0					11																	4842970		2201	4298	6499	SO:0001583	missense	119694	exon1			TTTCTACACGGAT	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.355C>A	chr11.hg19:g.4842970C>A	ENSP00000323952:p.His119Asn	132.0	0.0		55.0	46.0	NM_001004753	Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	hg19	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704525	0.68615	.	.	ENSG00000176925	ENST00000322110	T	0.00547	6.66	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	U	0.000756	T	0.02727	0.0082	M	0.89904	3.07	0.35542	D	0.803127	D	0.89917	1.0	D	0.91635	0.999	T	0.10245	-1.0638	10	0.87932	D	0	.	12.0721	0.53622	0.0:0.8257:0.1742:0.0	.	119	Q8NH61	O51F2_HUMAN	N	119	ENSP00000323952:H119N	ENSP00000323952:H119N	H	+	1	0	OR51F2	4799546	0.997000	0.39634	0.958000	0.39756	0.973000	0.67179	3.098000	0.50259	2.461000	0.83175	0.561000	0.74099	CAC	.	.		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753	
OR51S1	119692	hgsc.bcm.edu	37	11	4870336	4870336	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:4870336A>T	ENST00000322101.2	-	1	178	c.103T>A	c.(103-105)Tgg>Agg	p.W35R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAATGTCCACCAGGAGGGT	0.577																																					p.W35R		Atlas-SNP	.											.	OR51S1	83	.	0			c.T103A						.						105.0	93.0	97.0					11																	4870336		2201	4298	6499	SO:0001583	missense	119692	exon1			ATGTCCACCAGGA	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.103T>A	chr11.hg19:g.4870336A>T	ENSP00000322754:p.Trp35Arg	120.0	0.0		67.0	56.0	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	hg19	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076117	0.36662	.	.	ENSG00000176922	ENST00000322101	T	0.00318	8.12	5.35	4.17	0.49024	.	0.000000	0.41712	D	0.000822	T	0.00210	0.0006	N	0.08118	0	0.33245	D	0.557688	D	0.67145	0.996	P	0.59703	0.862	T	0.70637	-0.4817	10	0.87932	D	0	-4.9022	2.3603	0.04306	0.602:0.161:0.083:0.1541	.	35	Q8NGJ8	O51S1_HUMAN	R	35	ENSP00000322754:W35R	ENSP00000322754:W35R	W	-	1	0	OR51S1	4826912	0.203000	0.23435	1.000000	0.80357	0.278000	0.26855	0.552000	0.23376	2.243000	0.73865	0.460000	0.39030	TGG	.	.		0.577	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
OR51A2	401667	hgsc.bcm.edu	37	11	4976050	4976050	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:4976050T>G	ENST00000380371.1	-	1	893	c.894A>C	c.(892-894)aaA>aaC	p.K298N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTAATCTGTTTAGTTTTTA	0.373																																					p.K298N		Atlas-SNP	.											.	OR51A2	40	.	0			c.A894C						.						72.0	60.0	64.0					11																	4976050		2022	3682	5704	SO:0001583	missense	401667	exon1			AATCTGTTTAGTT	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.894A>C	chr11.hg19:g.4976050T>G	ENSP00000369729:p.Lys298Asn	176.0	0.0		156.0	140.0	NM_001004748		Missense_Mutation	SNP	ENST00000380371.1	hg19	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.520	1.108138	0.20714	.	.	ENSG00000205496	ENST00000380371	T	0.45668	0.89	3.45	-0.564	0.11774	.	.	.	.	.	T	0.37376	0.1001	M	0.78637	2.42	0.09310	N	1	B	0.23591	0.088	B	0.22386	0.039	T	0.48958	-0.8988	9	0.87932	D	0	.	0.849	0.01168	0.1664:0.2397:0.1641:0.4299	.	298	Q8NGJ7	O51A2_HUMAN	N	298	ENSP00000369729:K298N	ENSP00000369729:K298N	K	-	3	2	OR51A2	4932626	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-2.275000	0.01162	0.139000	0.18822	0.412000	0.27726	AAA	.	.		0.373	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR52N5	390075	hgsc.bcm.edu	37	11	5799159	5799159	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:5799159T>A	ENST00000317093.2	-	1	738	c.706A>T	c.(706-708)Agc>Tgc	p.S236C	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAAGAGAGGCTGATCGCTGCC	0.438																																					p.S236C		Atlas-SNP	.											.	OR52N5	58	.	0			c.A706T						.						116.0	110.0	112.0					11																	5799159		2118	4092	6210	SO:0001583	missense	390075	exon1			AGAGGCTGATCGC	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.706A>T	chr11.hg19:g.5799159T>A	ENSP00000322866:p.Ser236Cys	128.0	0.0		62.0	48.0	NM_001001922	B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	hg19	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553384	0.27739	.	.	ENSG00000181009	ENST00000317093	T	0.00130	8.69	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.75884	2.315	0.26563	N	0.9737	D	0.64830	0.994	D	0.67382	0.951	T	0.53129	-0.8482	9	0.46703	T	0.11	.	11.6832	0.51470	0.0:0.0:0.0:1.0	.	236	Q8NH56	O52N5_HUMAN	C	236	ENSP00000322866:S236C	ENSP00000322866:S236C	S	-	1	0	OR52N5	5755735	0.000000	0.05858	0.301000	0.25044	0.124000	0.20399	0.216000	0.17585	1.687000	0.51057	0.416000	0.27883	AGC	.	.		0.438	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922	
DCHS1	8642	hgsc.bcm.edu	37	11	6644033	6644033	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:6644033T>A	ENST00000299441.3	-	21	9285	c.8874A>T	c.(8872-8874)ctA>ctT	p.L2958L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2958					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACAAGTCCTAGGACCAGGG	0.647																																					p.L2958L		Atlas-SNP	.											.	DCHS1	277	.	0			c.A8874T						.						38.0	36.0	37.0					11																	6644033		2196	4280	6476	SO:0001819	synonymous_variant	8642	exon21			AAGTCCTAGGACC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8874A>T	chr11.hg19:g.6644033T>A		72.0	0.0		29.0	25.0	NM_003737	O15098	Silent	SNP	ENST00000299441.3	hg19	CCDS7771.1																																																																																			.	.		0.647	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
DCHS1	8642	hgsc.bcm.edu	37	11	6653396	6653396	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:6653396T>A	ENST00000299441.3	-	6	3758	c.3347A>T	c.(3346-3348)gAg>gTg	p.E1116V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1116	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGGTTCTCAGCCACAGC	0.607																																					p.E1116V		Atlas-SNP	.											.	DCHS1	277	.	0			c.A3347T						.						72.0	69.0	70.0					11																	6653396		2201	4295	6496	SO:0001583	missense	8642	exon6			TGGTTCTCAGCCA	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3347A>T	chr11.hg19:g.6653396T>A	ENSP00000299441:p.Glu1116Val	58.0	0.0		30.0	29.0	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015749	0.75161	.	.	ENSG00000166341	ENST00000299441	T	0.76448	-1.02	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.47093	D	0.000257	D	0.92782	0.7705	H	0.99197	4.465	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.95176	0.8295	10	0.66056	D	0.02	.	13.7121	0.62674	0.0:0.0:0.0:1.0	.	1116	Q96JQ0	PCD16_HUMAN	V	1116	ENSP00000299441:E1116V	ENSP00000299441:E1116V	E	-	2	0	DCHS1	6609972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.089000	0.63090	0.459000	0.35465	GAG	.	.		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR6A2	8590	hgsc.bcm.edu	37	11	6816315	6816315	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:6816315T>C	ENST00000332601.3	-	1	813	c.625A>G	c.(625-627)Att>Gtt	p.I209V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	209					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAATAAAAATGGCCAGGATG	0.493																																					p.I209V		Atlas-SNP	.											.	OR6A2	68	.	0			c.A625G						.						106.0	113.0	110.0					11																	6816315		2201	4296	6497	SO:0001583	missense	8590	exon1			TAAAAATGGCCAG	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.625A>G	chr11.hg19:g.6816315T>C	ENSP00000330384:p.Ile209Val	45.0	0.0		24.0	21.0	NM_003696	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	hg19	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	9.197	1.027587	0.19512	.	.	ENSG00000184933	ENST00000332601	T	0.36340	1.26	5.07	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.331825	0.22019	N	0.065757	T	0.22003	0.0530	N	0.17838	0.53	0.19775	N	0.99995	P	0.38129	0.619	P	0.44623	0.455	T	0.13764	-1.0497	10	0.09590	T	0.72	.	3.5549	0.07861	0.1633:0.1773:0.0:0.6594	.	209	O95222	OR6A2_HUMAN	V	209	ENSP00000330384:I209V	ENSP00000330384:I209V	I	-	1	0	OR6A2	6772891	0.000000	0.05858	0.947000	0.38551	0.129000	0.20672	-0.045000	0.12003	0.496000	0.27904	0.533000	0.62120	ATT	.	.		0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696	
TUB	7275	hgsc.bcm.edu	37	11	8111646	8111646	+	Nonsense_Mutation	SNP	A	A	T	rs533066502	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:8111646A>T	ENST00000299506.2	+	3	270	c.121A>T	c.(121-123)Aag>Tag	p.K41*	TUB_ENST00000534099.1_Nonsense_Mutation_p.K47*|TUB_ENST00000305253.4_Nonsense_Mutation_p.K96*	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	41					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCAGAAGAAGAAGCGCCAGGA	0.677																																					p.K96X		Atlas-SNP	.											.	TUB	71	.	0			c.A286T						.																																			SO:0001587	stop_gained	7275	exon4			AAGAAGAAGCGCC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.121A>T	chr11.hg19:g.8111646A>T	ENSP00000299506:p.Lys41*	175.0	0.0		82.0	28.0	NM_003320	D3DQU4|O00293|Q6B007	Nonsense_Mutation	SNP	ENST00000299506.2	hg19	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	A	37	6.491885	0.97612	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	.	.	.	5.23	5.23	0.72850	.	0.149903	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0894	14.0883	0.64973	1.0:0.0:0.0:0.0	.	.	.	.	X	47;96;41	.	ENSP00000299506:K41X	K	+	1	0	TUB	8068222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.672000	0.91181	1.961000	0.56991	0.533000	0.62120	AAG	.	.		0.677	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320	
IPO7	10527	hgsc.bcm.edu	37	11	9446500	9446500	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:9446500A>T	ENST00000379719.3	+	11	1323	c.1181A>T	c.(1180-1182)cAg>cTg	p.Q394L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	394					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACTGCTGCCCAGACACTTTTG	0.289																																					p.Q394L		Atlas-SNP	.											.	IPO7	72	.	0			c.A1181T						.						80.0	81.0	80.0					11																	9446500		2201	4293	6494	SO:0001583	missense	10527	exon11			CTGCCCAGACACT	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1181A>T	chr11.hg19:g.9446500A>T	ENSP00000369042:p.Gln394Leu	119.0	0.0		57.0	49.0	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	hg19	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810729	0.90707	.	.	ENSG00000205339	ENST00000379719	T	0.64085	-0.08	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	M	0.72576	2.205	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.74870	-0.3517	10	0.28530	T	0.3	.	15.0432	0.71807	1.0:0.0:0.0:0.0	.	394	O95373	IPO7_HUMAN	L	394	ENSP00000369042:Q394L	ENSP00000369042:Q394L	Q	+	2	0	IPO7	9403076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.927000	0.55829	0.533000	0.62120	CAG	.	.		0.289	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	
PLEKHA7	144100	hgsc.bcm.edu	37	11	16816089	16816089	+	Missense_Mutation	SNP	C	C	A	rs150403598		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:16816089C>A	ENST00000355661.3	-	19	2701	c.2691G>T	c.(2689-2691)caG>caT	p.Q897H	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q897H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q897H|PLEKHA7_ENST00000332954.4_5'Flank			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	897	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTTTCCTCAGCTGGGGTGGGT	0.567																																					p.Q897H		Atlas-SNP	.											.	PLEKHA7	120	.	0			c.G2691T						.						67.0	72.0	70.0					11																	16816089		2200	4294	6494	SO:0001583	missense	144100	exon19			CCTCAGCTGGGGT	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2691G>T	chr11.hg19:g.16816089C>A	ENSP00000347883:p.Gln897His	67.0	0.0		31.0	21.0	NM_175058	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	hg19	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.88|18.88	3.717659|3.717659	0.68844|0.68844	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080|ENST00000530489	T;T;T|.	0.19938|.	2.11;2.11;2.11|.	5.6|5.6	3.74|3.74	0.42951|0.42951	.|.	0.269557|.	0.38058|.	N|.	0.001830|.	T|T	0.51295|0.51295	0.1666|0.1666	L|L	0.44542|0.44542	1.39|1.39	0.34900|0.34900	D|D	0.746377|0.746377	D;P;D;D|.	0.71674|.	0.998;0.883;0.996;0.995|.	D;B;P;D|.	0.80764|.	0.994;0.438;0.862;0.912|.	T|T	0.58896|0.58896	-0.7555|-0.7555	10|5	0.56958|.	D|.	0.05|.	-21.3963|-21.3963	10.7656|10.7656	0.46292|0.46292	0.0:0.7939:0.0:0.2061|0.0:0.7939:0.0:0.2061	.|.	471;897;897;897|.	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2|.	.;.;PKHA7_HUMAN;.|.	H|I	897|528	ENSP00000435389:Q897H;ENSP00000347883:Q897H;ENSP00000416895:Q897H|.	ENSP00000347883:Q897H|.	Q|S	-|-	3|2	2|0	PLEKHA7|PLEKHA7	16772665|16772665	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.500000|0.500000	0.22562|0.22562	0.845000|0.845000	0.35118|0.35118	0.655000|0.655000	0.94253|0.94253	CAG|AGC	.	C|1.000;G|0.000		0.567	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
IGSF22	283284	hgsc.bcm.edu	37	11	18743196	18743196	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:18743196G>A	ENST00000513874.1	-	4	403	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	88	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTGCACCCGGGCTCGGAACA	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A88A		Atlas-SNP	.											.	IGSF22	211	.	0			c.C264T						.						94.0	94.0	94.0					11																	18743196		1992	4158	6150	SO:0001819	synonymous_variant	283284	exon4			CACCCGGGCTCGG	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.264C>T	chr11.hg19:g.18743196G>A		77.0	0.0	90	26.0	22.0	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	hg19	CCDS41625.2																																																																																			.	.		0.607	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
PTPN5	84867	hgsc.bcm.edu	37	11	18755139	18755139	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:18755139G>T	ENST00000358540.2	-	10	1474	c.1044C>A	c.(1042-1044)gaC>gaA	p.D348E	PTPN5_ENST00000396167.2_Missense_Mutation_p.D316E|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396170.1_Missense_Mutation_p.D316E|PTPN5_ENST00000396168.1_Missense_Mutation_p.D324E|PTPN5_ENST00000396171.4_Missense_Mutation_p.D348E|PTPN5_ENST00000477854.1_Missense_Mutation_p.D152E	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	348	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AACTCAGAGGGTCGTCAGGGT	0.587																																					p.D348E		Atlas-SNP	.											.	PTPN5	163	.	0			c.C1044A						.						187.0	173.0	178.0					11																	18755139		2199	4293	6492	SO:0001583	missense	84867	exon10			CAGAGGGTCGTCA	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1044C>A	chr11.hg19:g.18755139G>T	ENSP00000351342:p.Asp348Glu	99.0	0.0		48.0	41.0	NM_032781	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	hg19	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368565	0.61624	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.67	-0.66	0.11421	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.058630	0.64402	D	0.000003	T	0.72827	0.3509	N	0.11255	0.115	0.52501	D	0.999951	B;P	0.48407	0.005;0.91	B;P	0.47864	0.026;0.559	T	0.66830	-0.5824	10	0.28530	T	0.3	.	10.8691	0.46872	0.5578:0.0:0.4422:0.0	.	348;316	P54829;B3KXG7	PTN5_HUMAN;.	E	152;348;316;348;316;324	ENSP00000435056:D152E;ENSP00000351342:D348E;ENSP00000379473:D316E;ENSP00000379474:D348E;ENSP00000379470:D316E;ENSP00000379471:D324E	ENSP00000351342:D348E	D	-	3	2	PTPN5	18711715	1.000000	0.71417	0.817000	0.32601	0.965000	0.64279	0.717000	0.25851	-0.145000	0.11294	-0.136000	0.14681	GAC	.	.		0.587	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	
KIAA1549L	25758	hgsc.bcm.edu	37	11	33564933	33564933	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:33564933A>G	ENST00000321505.4	+	1	1113	c.933A>G	c.(931-933)tcA>tcG	p.S311S	KIAA1549L_ENST00000389726.3_Silent_p.S311S|KIAA1549L_ENST00000265654.5_Silent_p.S311S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	311						integral component of membrane (GO:0016021)											GTAGTGTCTCATCTCCCATCA	0.478											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S311S		Atlas-SNP	.											.	.	.	.	0			c.A933G						.						196.0	196.0	196.0					11																	33564933		1998	4178	6176	SO:0001819	synonymous_variant	25758	exon1			TGTCTCATCTCCC	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.933A>G	chr11.hg19:g.33564933A>G		185.0	0.0	841	175.0	70.0	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	hg19	CCDS44565.2																																																																																			.	.		0.478	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
LDLRAD3	143458	hgsc.bcm.edu	37	11	36057758	36057758	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:36057758G>T	ENST00000315571.5	+	2	173	c.152G>T	c.(151-153)gGg>gTg	p.G51V	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	51	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CAGTGTGACGGGCTGCCTGAC	0.622																																					p.G51V		Atlas-SNP	.											.	LDLRAD3	52	.	0			c.G152T						.						100.0	94.0	96.0					11																	36057758		2202	4298	6500	SO:0001583	missense	143458	exon2			GTGACGGGCTGCC	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.152G>T	chr11.hg19:g.36057758G>T	ENSP00000318607:p.Gly51Val	54.0	0.0		44.0	21.0	NM_174902	B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	hg19	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721872	0.89298	.	.	ENSG00000179241	ENST00000545142;ENST00000315571	D	0.96913	-4.17	5.43	5.43	0.79202	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98931	1.0787	10	0.66056	D	0.02	.	18.2104	0.89868	0.0:0.0:1.0:0.0	.	51	Q86YD5	LRAD3_HUMAN	V	51	ENSP00000318607:G51V	ENSP00000318607:G51V	G	+	2	0	LDLRAD3	36014334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.288000	0.78691	2.537000	0.85549	0.655000	0.94253	GGG	.	.		0.622	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902	
RAG1	5896	hgsc.bcm.edu	37	11	36596843	36596843	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:36596843A>C	ENST00000299440.5	+	2	2101	c.1989A>C	c.(1987-1989)gcA>gcC	p.A663A		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	663					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTATGCTGGCAGATGAGTCTG	0.478									Familial Hemophagocytic Lymphohistiocytosis																												p.A663A	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Atlas-SNP	.											.	RAG1	151	.	0			c.A1989C						.						71.0	64.0	66.0					11																	36596843		2202	4298	6500	SO:0001819	synonymous_variant	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GCTGGCAGATGAG	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1989A>C	chr11.hg19:g.36596843A>C		96.0	0.0		92.0	38.0	NM_000448	E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	hg19	CCDS7902.1																																																																																			.	.		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG2	5897	hgsc.bcm.edu	37	11	36614915	36614915	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:36614915A>G	ENST00000311485.3	-	2	965	c.804T>C	c.(802-804)aaT>aaC	p.N268N	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	268					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CAAATTCATCATTGTTAGTTT	0.413									Familial Hemophagocytic Lymphohistiocytosis																												p.N268N		Atlas-SNP	.											.	RAG2	92	.	0			c.T804C						.						75.0	77.0	76.0					11																	36614915		2202	4298	6500	SO:0001819	synonymous_variant	5897	exon3	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TTCATCATTGTTA	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.804T>C	chr11.hg19:g.36614915A>G		48.0	0.0		48.0	18.0	NM_001243785	A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	hg19	CCDS7903.1																																																																																			.	.		0.413	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536	
ALX4	60529	hgsc.bcm.edu	37	11	44297157	44297157	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:44297157A>T	ENST00000329255.3	-	2	621	c.518T>A	c.(517-519)gTg>gAg	p.V173E		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	173					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCCATCCCCACAGTGTCAGA	0.587																																					p.V173E		Atlas-SNP	.											.	ALX4	58	.	0			c.T518A						.						51.0	56.0	54.0					11																	44297157		2203	4299	6502	SO:0001583	missense	60529	exon2			ATCCCCACAGTGT	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.518T>A	chr11.hg19:g.44297157A>T	ENSP00000332744:p.Val173Glu	45.0	0.0		52.0	26.0	NM_021926	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	hg19	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251265	0.22880	.	.	ENSG00000052850	ENST00000329255	D	0.90676	-2.71	3.73	3.73	0.42828	.	0.622614	0.16072	N	0.230931	T	0.81697	0.4877	L	0.50333	1.59	0.30756	N	0.744571	B	0.23806	0.091	B	0.19148	0.024	T	0.68584	-0.5370	10	0.02654	T	1	.	2.1269	0.03741	0.5847:0.0:0.1671:0.2482	.	173	Q9H161	ALX4_HUMAN	E	173	ENSP00000332744:V173E	ENSP00000332744:V173E	V	-	2	0	ALX4	44253733	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.758000	0.68776	1.554000	0.49487	0.374000	0.22700	GTG	.	.		0.587	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1		
CREB3L1	90993	hgsc.bcm.edu	37	11	46334468	46334468	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:46334468C>A	ENST00000529193.1	+	8	1480	c.1029C>A	c.(1027-1029)aaC>aaA	p.N343K	CREB3L1_ENST00000288400.3_Missense_Mutation_p.N343K			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	343	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.N343N(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGAATGCCAACAGGTGGGTAG	0.592			T	FUS	myxofibrosarcoma																																p.N343K	Pancreas(3;159 194 19597 26278 47995)	Atlas-SNP	.		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	CREB3L1,NS,carcinoma,0,1	CREB3L1	30	.	1	Substitution - coding silent(1)	ovary(1)	c.C1029A						.						41.0	45.0	44.0					11																	46334468		2038	4189	6227	SO:0001583	missense	90993	exon8			TGCCAACAGGTGG		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1029C>A	chr11.hg19:g.46334468C>A	ENSP00000434939:p.Asn343Lys	39.0	0.0		38.0	14.0	NM_052854	Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	hg19	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496306	0.85069	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000530518	T;T;D	0.90133	0.55;0.55;-2.62	5.2	5.2	0.72013	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95343	0.8440	10	0.66056	D	0.02	-1.899	13.0829	0.59123	0.0:0.9227:0.0:0.0773	.	343	Q96BA8	CR3L1_HUMAN	K	343;343;255;103	ENSP00000434939:N343K;ENSP00000288400:N343K;ENSP00000436574:N103K	ENSP00000288400:N343K	N	+	3	2	CREB3L1	46291044	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.684000	0.61686	2.431000	0.82371	0.561000	0.74099	AAC	.	.		0.592	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	
TRIM64C	646754	hgsc.bcm.edu	37	11	49075580	49075580	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:49075580C>T	ENST00000530230.1	-	7	1029	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GAGTGGGTCACATCCACTTCC	0.478																																					p.V347M		Atlas-SNP	.											.	TRIM64C	18	.	0			c.G1039A						.																																			SO:0001583	missense	646754	exon6			GGGTCACATCCAC		CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.1030G>A	chr11.hg19:g.49075580C>T	ENSP00000431987:p.Val344Met	69.0	0.0		53.0	19.0	NM_001206631		Missense_Mutation	SNP	ENST00000530230.1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.39	2.519969	0.44866	.	.	ENSG00000214891	ENST00000530230	T	0.74526	-0.85	1.55	1.55	0.23275	.	.	.	.	.	T	0.81019	0.4736	M	0.86502	2.82	0.09310	N	0.999991	.	.	.	.	.	.	T	0.71151	-0.4676	7	0.62326	D	0.03	.	6.6145	0.22769	0.0:1.0:0.0:0.0	.	.	.	.	M	344	ENSP00000431987:V344M	ENSP00000431987:V344M	V	-	1	0	TRIM64C	49032156	0.975000	0.34042	0.038000	0.18304	0.165000	0.22458	2.235000	0.43044	1.206000	0.43276	0.184000	0.17185	GTG	.	.		0.478	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391366.1		
OR4A15	81328	hgsc.bcm.edu	37	11	55135489	55135489	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55135489G>A	ENST00000314706.3	+	1	130	c.130G>A	c.(130-132)Ggg>Agg	p.G44R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATCCTCTTAGGGCTCACACA	0.413																																					p.G44R		Atlas-SNP	.											OR4A15,NS,carcinoma,0,1	OR4A15	161	.	0			c.G130A						.						68.0	64.0	65.0					11																	55135489		2201	4296	6497	SO:0001583	missense	81328	exon1			CTCTTAGGGCTCA	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.130G>A	chr11.hg19:g.55135489G>A	ENSP00000325065:p.Gly44Arg	71.0	0.0		68.0	31.0	NM_001005275	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	hg19	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	14.78	2.636672	0.47049	.	.	ENSG00000181958	ENST00000314706	T	0.00659	5.94	3.48	3.48	0.39840	.	0.474475	0.17560	N	0.169854	T	0.06050	0.0157	H	0.95004	3.61	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.04885	-1.0920	10	0.87932	D	0	.	10.3795	0.44104	0.0:0.0:1.0:0.0	.	44	Q8NGL6	O4A15_HUMAN	R	44	ENSP00000325065:G44R	ENSP00000325065:G44R	G	+	1	0	OR4A15	54892065	1.000000	0.71417	0.199000	0.23439	0.015000	0.08874	5.301000	0.65727	1.785000	0.52413	0.492000	0.49549	GGG	.	.		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR4A15	81328	hgsc.bcm.edu	37	11	55135678	55135678	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55135678C>A	ENST00000314706.3	+	1	319	c.319C>A	c.(319-321)Ccc>Acc	p.P107T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGCATTTGCTCCCAAAATGAT	0.418																																					p.P107T		Atlas-SNP	.											.	OR4A15	161	.	0			c.C319A						.						142.0	140.0	141.0					11																	55135678		2201	4296	6497	SO:0001583	missense	81328	exon1			TTTGCTCCCAAAA	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.319C>A	chr11.hg19:g.55135678C>A	ENSP00000325065:p.Pro107Thr	43.0	0.0		35.0	16.0	NM_001005275	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	hg19	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	17.17	3.320523	0.60634	.	.	ENSG00000181958	ENST00000314706	T	0.01854	4.6	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.21962	0.0529	H	0.98802	4.335	0.27364	N	0.955899	D	0.76494	0.999	D	0.68621	0.959	T	0.42632	-0.9440	10	0.87932	D	0	.	12.5491	0.56216	0.0:1.0:0.0:0.0	.	107	Q8NGL6	O4A15_HUMAN	T	107	ENSP00000325065:P107T	ENSP00000325065:P107T	P	+	1	0	OR4A15	54892254	0.989000	0.36119	0.006000	0.13384	0.183000	0.23260	3.771000	0.55318	1.785000	0.52413	0.492000	0.49549	CCC	.	.		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR4C6	219432	hgsc.bcm.edu	37	11	55433038	55433038	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55433038C>T	ENST00000314259.3	+	1	425	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACTACACGATCATCATGAGTC	0.512																																					p.I132I		Atlas-SNP	.											.	OR4C6	114	.	0			c.C396T						.						105.0	98.0	100.0					11																	55433038		2200	4296	6496	SO:0001819	synonymous_variant	219432	exon1			CACGATCATCATG	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.396C>T	chr11.hg19:g.55433038C>T		65.0	0.0		70.0	31.0	NM_001004704	B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	hg19	CCDS31506.1																																																																																			.	.		0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
OR8J3	81168	hgsc.bcm.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55905003T>A	ENST00000301529.1	-	1	191	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433																																					p.R64S		Atlas-SNP	.											.	OR8J3	112	.	0			c.A192T						.						143.0	139.0	140.0					11																	55905003		2201	4296	6497	SO:0001583	missense	81168	exon1			TAGATGTCTCAGG		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.192A>T	chr11.hg19:g.55905003T>A	ENSP00000301529:p.Arg64Ser	110.0	0.0		79.0	30.0	NM_001004064	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	hg19	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	2.806	-0.248077	0.05867	.	.	ENSG00000167822	ENST00000301529	T	0.01051	5.4	3.26	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00608	0.0020	N	0.12887	0.27	0.09310	N	1	B	0.27117	0.168	B	0.38842	0.283	T	0.45175	-0.9279	10	0.02654	T	1	.	2.4217	0.04449	0.1025:0.2904:0.3208:0.2863	.	64	Q8NGG0	OR8J3_HUMAN	S	64	ENSP00000301529:R64S	ENSP00000301529:R64S	R	-	3	2	OR8J3	55661579	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.356000	0.02609	-0.934000	0.03733	0.240000	0.17902	AGA	.	.		0.433	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
OR8K5	219453	hgsc.bcm.edu	37	11	55926969	55926969	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55926969A>C	ENST00000313447.1	-	1	824	c.825T>G	c.(823-825)tcT>tcG	p.S275S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGTAAAACACAGAAGCCATTT	0.388																																					p.S275S		Atlas-SNP	.											.	OR8K5	82	.	0			c.T825G						.						105.0	90.0	95.0					11																	55926969		2201	4296	6497	SO:0001819	synonymous_variant	219453	exon1			AAACACAGAAGCC	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.825T>G	chr11.hg19:g.55926969A>C		110.0	0.0		95.0	36.0	NM_001004058	Q6IFB5	Silent	SNP	ENST00000313447.1	hg19	CCDS31521.1																																																																																			.	.		0.388	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058	
OR5J2	282775	hgsc.bcm.edu	37	11	55944226	55944226	+	Missense_Mutation	SNP	A	A	G	rs201858818		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:55944226A>G	ENST00000312298.1	+	1	133	c.133A>G	c.(133-135)Atg>Gtg	p.M45V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAATCTGGGCATGATCCTCTT	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		17938	0.0		0.001	False		,,,				2504	0.0				p.M45V		Atlas-SNP	.											.	OR5J2	98	.	0			c.A133G						.	A	VAL/MET	0,4402		0,0,2201	223.0	202.0	209.0		133	0.2	0.9	11		209	4,8588	3.7+/-12.6	0,4,4292	yes	missense	OR5J2	NM_001005492.1	21	0,4,6493	GG,GA,AA		0.0466,0.0,0.0308	possibly-damaging	45/313	55944226	4,12990	2201	4296	6497	SO:0001583	missense	282775	exon1			CTGGGCATGATCC	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.133A>G	chr11.hg19:g.55944226A>G	ENSP00000310788:p.Met45Val	74.0	0.0		72.0	36.0	NM_001005492	Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	hg19	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	7.506	0.653603	0.14580	0.0	4.66E-4	ENSG00000174957	ENST00000312298	T	0.00421	7.46	4.57	0.237	0.15475	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00271	0.0008	L	0.43554	1.36	0.21325	N	0.999724	P	0.35745	0.518	B	0.29598	0.104	T	0.50215	-0.8854	10	0.87932	D	0	.	8.1884	0.31352	0.5103:0.3697:0.0:0.12	.	45	Q8NH18	OR5J2_HUMAN	V	45	ENSP00000310788:M45V	ENSP00000310788:M45V	M	+	1	0	OR5J2	55700802	0.180000	0.23148	0.921000	0.36526	0.183000	0.23260	0.708000	0.25719	0.194000	0.20326	0.475000	0.43553	ATG	.	A|0.999;G|0.001		0.418	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
OR8K3	219473	hgsc.bcm.edu	37	11	56086359	56086359	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56086359C>A	ENST00000312711.1	+	1	577	c.577C>A	c.(577-579)Cat>Aat	p.H193N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCAAATACACATGAAATTGA	0.343																																					p.H193N		Atlas-SNP	.											.	OR8K3	92	.	0			c.C577A						.						97.0	97.0	97.0					11																	56086359		2201	4296	6497	SO:0001583	missense	219473	exon1			AATACACATGAAA	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.577C>A	chr11.hg19:g.56086359C>A	ENSP00000323555:p.His193Asn	85.0	0.0		75.0	29.0	NM_001005202	Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	hg19	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	2.488	-0.318051	0.05386	.	.	ENSG00000181689	ENST00000312711	T	0.00099	8.73	4.56	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.717261	0.13583	N	0.377194	T	0.00178	0.0005	M	0.67700	2.07	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.40979	-0.9534	10	0.54805	T	0.06	.	4.3093	0.10962	0.1717:0.6031:0.0:0.2253	.	193	Q8NH51	OR8K3_HUMAN	N	193	ENSP00000323555:H193N	ENSP00000323555:H193N	H	+	1	0	OR8K3	55842935	0.000000	0.05858	0.450000	0.26969	0.004000	0.04260	-0.996000	0.03709	1.014000	0.39417	0.573000	0.79308	CAT	.	.		0.343	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
OR8K1	390157	hgsc.bcm.edu	37	11	56114284	56114284	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56114284T>C	ENST00000279783.2	+	1	864	c.770T>C	c.(769-771)tTc>tCc	p.F257S		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F257S(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGATCATGTTCTATGGGACA	0.403										HNSCC(65;0.19)																											p.F257S		Atlas-SNP	.											OR8K1,face,malignant_melanoma,0,1	OR8K1	93	.	1	Substitution - Missense(1)	skin(1)	c.T770C						.						125.0	109.0	114.0					11																	56114284		2201	4296	6497	SO:0001583	missense	390157	exon1			TCATGTTCTATGG	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.770T>C	chr11.hg19:g.56114284T>C	ENSP00000279783:p.Phe257Ser	107.0	0.0		65.0	24.0	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	hg19	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492120	0.64074	.	.	ENSG00000150261	ENST00000279783	T	0.00297	8.23	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00784	0.0026	M	0.89601	3.045	0.24841	N	0.992467	D	0.89917	1.0	D	0.81914	0.995	T	0.25152	-1.0140	10	0.87932	D	0	-27.6131	10.0256	0.42070	0.1506:0.0:0.0:0.8494	.	257	Q8NGG5	OR8K1_HUMAN	S	257	ENSP00000279783:F257S	ENSP00000279783:F257S	F	+	2	0	OR8K1	55870860	0.323000	0.24643	0.998000	0.56505	0.745000	0.42441	3.653000	0.54446	1.862000	0.54008	0.448000	0.29417	TTC	.	.		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR8K1	390157	hgsc.bcm.edu	37	11	56114424	56114424	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56114424A>T	ENST00000279783.2	+	1	1004	c.910A>T	c.(910-912)Aaa>Taa	p.K304*		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAAAGAAGTAAAAGATGCTCT	0.348										HNSCC(65;0.19)																											p.K304X		Atlas-SNP	.											.	OR8K1	93	.	0			c.A910T						.						68.0	70.0	70.0					11																	56114424		2201	4296	6497	SO:0001587	stop_gained	390157	exon1			GAAGTAAAAGATG	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.910A>T	chr11.hg19:g.56114424A>T	ENSP00000279783:p.Lys304*	51.0	0.0		41.0	16.0	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Nonsense_Mutation	SNP	ENST00000279783.2	hg19	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943322	0.53079	.	.	ENSG00000150261	ENST00000279783	.	.	.	5.0	3.88	0.44766	.	0.000000	0.52532	D	0.000078	.	.	.	.	.	.	0.47094	D	0.999316	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6608	10.2498	0.43362	0.9218:0.0:0.0782:0.0	.	.	.	.	X	304	.	ENSP00000279783:K304X	K	+	1	0	OR8K1	55871000	0.014000	0.17966	0.966000	0.40874	0.418000	0.31294	1.415000	0.34748	0.756000	0.33013	0.448000	0.29417	AAA	.	.		0.348	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR5AP2	338675	hgsc.bcm.edu	37	11	56409824	56409824	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56409824C>A	ENST00000302981.1	-	1	91	c.92G>T	c.(91-93)gGa>gTa	p.G31V	OR5AP2_ENST00000544374.1_Missense_Mutation_p.G32V	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAAGAGGACTCCTTGTAGATC	0.413																																					p.G31V		Atlas-SNP	.											.	OR5AP2	69	.	0			c.G92T						.						103.0	95.0	98.0					11																	56409824		2201	4296	6497	SO:0001583	missense	338675	exon1			AGGACTCCTTGTA	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.92G>T	chr11.hg19:g.56409824C>A	ENSP00000303111:p.Gly31Val	48.0	0.0		52.0	24.0	NM_001002925	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	hg19	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.481838	0.00163	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00380	7.64;7.64	5.19	3.05	0.35203	.	1.346700	0.05040	N	0.476107	T	0.00109	0.0003	N	0.00473	-1.45	0.18873	N	0.999986	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	10	0.02654	T	1	.	6.4932	0.22127	0.6022:0.2852:0.0:0.1126	.	31	Q8NGF4	O5AP2_HUMAN	V	32;31	ENSP00000442701:G32V;ENSP00000303111:G31V	ENSP00000303111:G31V	G	-	2	0	OR5AP2	56166400	0.000000	0.05858	0.143000	0.22291	0.213000	0.24496	-0.800000	0.04555	0.578000	0.29487	0.637000	0.83480	GGA	.	.		0.413	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925	
OR9G1	390174	hgsc.bcm.edu	37	11	56468593	56468593	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56468593C>A	ENST00000312153.1	+	1	730	c.730C>A	c.(730-732)Ctg>Atg	p.L244M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCTCCCACCTGACCTCTGT	0.458																																					p.L244M		Atlas-SNP	.											.	.	.	.	0			c.C730A						.						229.0	236.0	234.0					11																	56468593		2201	4296	6497	SO:0001583	missense	504191	exon1			TCCCACCTGACCT	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.730C>A	chr11.hg19:g.56468593C>A	ENSP00000309012:p.Leu244Met	104.0	0.0		92.0	18.0	NM_001013358	Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	hg19	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128252	0.21041	.	.	ENSG00000174914	ENST00000312153	T	0.50001	0.76	4.62	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000676	T	0.60792	0.2296	M	0.87682	2.9	0.27550	N	0.950523	D	0.60160	0.987	D	0.72338	0.977	T	0.53683	-0.8404	10	0.45353	T	0.12	-21.1339	4.8763	0.13658	0.3317:0.312:0.0:0.3563	.	244	Q8NH87	OR9G1_HUMAN	M	244	ENSP00000309012:L244M	ENSP00000309012:L244M	L	+	1	2	OR9G1	56225169	0.179000	0.23135	0.147000	0.22382	0.233000	0.25261	0.111000	0.15458	-0.541000	0.06257	-2.114000	0.00352	CTG	.	.		0.458	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
OR9G1	390174	hgsc.bcm.edu	37	11	56468658	56468658	+	Nonsense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:56468658T>G	ENST00000312153.1	+	1	795	c.795T>G	c.(793-795)taT>taG	p.Y265*		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GATCTAGCTATTCTTTTGATA	0.428																																					p.Y265X		Atlas-SNP	.											.	.	.	.	0			c.T795G						.						198.0	209.0	205.0					11																	56468658		2201	4296	6497	SO:0001587	stop_gained	504191	exon1			TAGCTATTCTTTT	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.795T>G	chr11.hg19:g.56468658T>G	ENSP00000309012:p.Tyr265*	94.0	0.0		72.0	11.0	NM_001013358	Q6IEU9|Q8NGQ0	Nonsense_Mutation	SNP	ENST00000312153.1	hg19	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	4.806	0.149823	0.09185	.	.	ENSG00000174914	ENST00000312153	.	.	.	4.62	-1.62	0.08372	.	0.279150	0.25938	N	0.027326	.	.	.	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5009	7.5988	0.28065	0.0:0.4569:0.1307:0.4124	.	.	.	.	X	265	.	ENSP00000309012:Y265X	Y	+	3	2	OR9G1	56225234	0.000000	0.05858	0.002000	0.10522	0.140000	0.21249	-1.013000	0.03645	-0.171000	0.10797	0.519000	0.50382	TAT	.	.		0.428	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213	
OR5B3	441608	hgsc.bcm.edu	37	11	58170104	58170104	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:58170104G>T	ENST00000309403.2	-	1	778	c.779C>A	c.(778-780)cCc>cAc	p.P260H		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACTGGAGCTGGGTTGTAAGTA	0.468																																					p.P260H		Atlas-SNP	.											.	OR5B3	65	.	0			c.C779A						.						102.0	99.0	100.0					11																	58170104		2201	4295	6496	SO:0001583	missense	441608	exon1			GAGCTGGGTTGTA	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.779C>A	chr11.hg19:g.58170104G>T	ENSP00000308270:p.Pro260His	55.0	0.0		48.0	20.0	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	hg19	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	16.96	3.267398	0.59540	.	.	ENSG00000172769	ENST00000309403	T	0.00272	8.36	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000220	T	0.00906	0.0030	M	0.91196	3.185	0.31806	N	0.627719	D	0.89917	1.0	D	0.91635	0.999	T	0.10613	-1.0622	10	0.87932	D	0	-64.5656	15.2879	0.73843	0.0:0.0:1.0:0.0	.	260	Q8NH48	OR5B3_HUMAN	H	260	ENSP00000308270:P260H	ENSP00000308270:P260H	P	-	2	0	OR5B3	57926680	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.630000	0.54273	2.264000	0.75181	0.650000	0.86243	CCC	.	.		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
DDB1	1642	hgsc.bcm.edu	37	11	61091480	61091480	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:61091480T>A	ENST00000301764.7	-	7	1289	c.892A>T	c.(892-894)Aag>Tag	p.K298*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	298	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGAGATCCTTGAGAGTGACG	0.502								Nucleotide excision repair (NER)																													p.K298X		Atlas-SNP	.											.	DDB1	100	.	0			c.A892T						.						209.0	189.0	196.0					11																	61091480		2203	4299	6502	SO:0001587	stop_gained	1642	exon7			GATCCTTGAGAGT	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.892A>T	chr11.hg19:g.61091480T>A	ENSP00000301764:p.Lys298*	169.0	0.0		170.0	75.0	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	ENST00000301764.7	hg19	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	T	40	8.452979	0.98817	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	.	.	.	5.63	5.63	0.86233	.	0.105068	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1078	15.8421	0.78857	0.0:0.0:0.0:1.0	.	.	.	.	X	298;81;113	.	ENSP00000301764:K298X	K	-	1	0	DDB1	60848056	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.186000	0.72026	2.157000	0.67596	0.533000	0.62120	AAG	.	.		0.502	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
CYB561A3	220002	hgsc.bcm.edu	37	11	61124109	61124109	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:61124109T>A	ENST00000294072.4	-	3	754	c.77A>T	c.(76-78)tAc>tTc	p.Y26F	CYB561A3_ENST00000546151.1_Missense_Mutation_p.Y26F|CYB561A3_ENST00000536915.1_Missense_Mutation_p.Y26F|CYB561A3_ENST00000544118.1_Missense_Mutation_p.Y26F|CYB561A3_ENST00000447532.2_Missense_Mutation_p.Y26F|CYB561A3_ENST00000539890.1_Missense_Mutation_p.Y26F|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.Y43F	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	26	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										CTGCATCCAGTAGATAGTGAA	0.522																																					p.Y43F		Atlas-SNP	.											.	CYBASC3	26	.	0			c.A128T						.						169.0	150.0	157.0					11																	61124109		2203	4299	6502	SO:0001583	missense	220002	exon4			ATCCAGTAGATAG	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.77A>T	chr11.hg19:g.61124109T>A	ENSP00000294072:p.Tyr26Phe	89.0	0.0		87.0	44.0	NM_001161454	B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	hg19	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.380121	0.24944	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000546151;ENST00000544118;ENST00000536915;ENST00000539890;ENST00000542361;ENST00000537364;ENST00000539128;ENST00000545361;ENST00000537680	T;T;T;T;T;T	0.62941	0.0;0.01;-0.01;0.01;1.01;1.01	5.38	2.98	0.34508	Cytochrome b561/ferric reductase transmembrane (1);	0.538625	0.19361	N	0.116138	T	0.45357	0.1338	L	0.41906	1.305	0.09310	N	1	B;B;P;B	0.35174	0.159;0.036;0.488;0.086	B;B;B;B	0.32211	0.062;0.042;0.142;0.034	T	0.21245	-1.0251	10	0.20046	T	0.44	-12.1842	6.4702	0.22003	0.2387:0.0:0.2749:0.4864	.	43;26;26;26	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	F	43;26;26;26;26;26;26;26;26;26;26;26	ENSP00000398979:Y43F;ENSP00000294072:Y26F;ENSP00000389745:Y26F;ENSP00000437390:Y26F;ENSP00000443321:Y26F;ENSP00000438725:Y26F	ENSP00000294072:Y26F	Y	-	2	0	CYBASC3	60880685	0.015000	0.18098	0.034000	0.17996	0.796000	0.44982	1.047000	0.30367	0.317000	0.23160	-0.496000	0.04628	TAC	.	.		0.522	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611	
AHNAK	79026	hgsc.bcm.edu	37	11	62285505	62285505	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:62285505T>C	ENST00000378024.4	-	5	16658	c.16384A>G	c.(16384-16386)Aaa>Gaa	p.K5462E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5462	Gly-rich.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTCCCTTTCACTTTTGGT	0.547																																					p.K5462E		Atlas-SNP	.											.	AHNAK	532	.	0			c.A16384G						.						77.0	78.0	78.0					11																	62285505		2202	4299	6501	SO:0001583	missense	79026	exon5			TCCCTTTCACTTT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16384A>G	chr11.hg19:g.62285505T>C	ENSP00000367263:p.Lys5462Glu	86.0	0.0		82.0	41.0	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785854	0.31593	.	.	ENSG00000124942	ENST00000378024	T	0.02552	4.25	4.88	4.88	0.63580	.	0.144874	0.30781	U	0.008887	T	0.03305	0.0096	L	0.41632	1.29	0.33695	D	0.613811	P	0.39480	0.675	B	0.42522	0.39	T	0.42766	-0.9432	10	0.23302	T	0.38	-4.8397	5.6771	0.17755	0.0:0.2296:0.0:0.7704	.	5462	Q09666	AHNK_HUMAN	E	5462	ENSP00000367263:K5462E	ENSP00000367263:K5462E	K	-	1	0	AHNAK	62042081	0.353000	0.24904	0.996000	0.52242	0.986000	0.74619	2.345000	0.44018	1.814000	0.52955	0.372000	0.22366	AAA	.	.		0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	hgsc.bcm.edu	37	11	62288328	62288328	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:62288328T>C	ENST00000378024.4	-	5	13835	c.13561A>G	c.(13561-13563)Atg>Gtg	p.M4521V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4521					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCACTCATGGAGATTTGT	0.428																																					p.M4521V		Atlas-SNP	.											.	AHNAK	532	.	0			c.A13561G						.						70.0	71.0	71.0					11																	62288328		2202	4299	6501	SO:0001583	missense	79026	exon5			CACTCATGGAGAT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13561A>G	chr11.hg19:g.62288328T>C	ENSP00000367263:p.Met4521Val	111.0	0.0		98.0	29.0	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.716609	0.68844	.	.	ENSG00000124942	ENST00000378024	T	0.01745	4.66	4.92	4.92	0.64577	.	0.000000	0.45606	U	0.000355	T	0.08714	0.0216	M	0.85710	2.77	0.41555	D	0.988594	P	0.42010	0.768	P	0.56514	0.8	T	0.32851	-0.9891	10	0.18276	T	0.48	.	13.1099	0.59267	0.0:0.0:0.0:1.0	.	4521	Q09666	AHNK_HUMAN	V	4521	ENSP00000367263:M4521V	ENSP00000367263:M4521V	M	-	1	0	AHNAK	62044904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.157000	0.50716	1.970000	0.57323	0.523000	0.50628	ATG	.	.		0.428	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	hgsc.bcm.edu	37	11	62289734	62289734	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:62289734T>C	ENST00000378024.4	-	5	12429	c.12155A>G	c.(12154-12156)cAt>cGt	p.H4052R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4052					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCTGGGCCATGAACATCCAC	0.502																																					p.H4052R		Atlas-SNP	.											.	AHNAK	532	.	0			c.A12155G						.						190.0	201.0	197.0					11																	62289734		2202	4299	6501	SO:0001583	missense	79026	exon5			GGGCCATGAACAT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12155A>G	chr11.hg19:g.62289734T>C	ENSP00000367263:p.His4052Arg	81.0	0.0		70.0	34.0	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	0.332	-0.955447	0.02267	.	.	ENSG00000124942	ENST00000378024	T	0.00966	5.49	4.04	4.04	0.47022	.	0.386788	0.19320	N	0.117174	T	0.01730	0.0055	M	0.75150	2.29	0.32641	N	0.520734	B	0.21606	0.058	B	0.22601	0.04	T	0.06570	-1.0819	10	0.16896	T	0.51	.	12.6376	0.56692	0.0:0.0:0.0:1.0	.	4052	Q09666	AHNK_HUMAN	R	4052	ENSP00000367263:H4052R	ENSP00000367263:H4052R	H	-	2	0	AHNAK	62046310	0.014000	0.17966	0.605000	0.28930	0.018000	0.09664	1.567000	0.36407	1.471000	0.48121	0.148000	0.16107	CAT	.	.		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
B3GAT3	26229	hgsc.bcm.edu	37	11	62384649	62384649	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:62384649T>A	ENST00000265471.5	-	3	655	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	B3GAT3_ENST00000534026.1_Missense_Mutation_p.Q143L|B3GAT3_ENST00000531383.1_Missense_Mutation_p.Q143L	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	143					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCGAAGCCGCTGGGCTTTGGG	0.687																																					p.Q143L		Atlas-SNP	.											.	B3GAT3	24	.	0			c.A428T						.						23.0	27.0	25.0					11																	62384649		2202	4297	6499	SO:0001583	missense	26229	exon3			AGCCGCTGGGCTT	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.428A>T	chr11.hg19:g.62384649T>A	ENSP00000265471:p.Gln143Leu	57.0	0.0		50.0	27.0	NM_012200	B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	hg19	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	t	8.326	0.825487	0.16749	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.56	5.56	0.83823	.	0.227141	0.39210	N	0.001432	T	0.41673	0.1169	N	0.16656	0.425	0.42403	D	0.99257	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.14023	0.01;0.01;0.01	T	0.34104	-0.9842	10	0.13470	T	0.59	.	9.0457	0.36345	0.164:0.0:0.0:0.8359	.	143;149;143	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	L	143;143;143;166	ENSP00000265471:Q143L;ENSP00000431359:Q143L;ENSP00000432474:Q143L;ENSP00000432854:Q166L	ENSP00000265471:Q143L	Q	-	2	0	B3GAT3	62141225	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.125000	0.31332	2.114000	0.64651	0.454000	0.30748	CAG	.	.		0.687	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200	
SLC22A8	9376	hgsc.bcm.edu	37	11	62763203	62763203	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:62763203C>T	ENST00000336232.2	-	7	1109	c.974G>A	c.(973-975)cGc>cAc	p.R325H	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R325H|SLC22A8_ENST00000430500.2_Missense_Mutation_p.R325H|SLC22A8_ENST00000535878.1_Missense_Mutation_p.R202H|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R234H	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	325					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAAGGTCATGCGGCGCAGCAT	0.582																																					p.R325H		Atlas-SNP	.											.	SLC22A8	60	.	0			c.G974A						.						156.0	141.0	146.0					11																	62763203		2201	4298	6499	SO:0001583	missense	9376	exon7			GTCATGCGGCGCA	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.974G>A	chr11.hg19:g.62763203C>T	ENSP00000337335:p.Arg325His	107.0	0.0		65.0	28.0	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	hg19	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336433	0.24253	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.34	2.17	0.27698	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.751400	0.12361	N	0.475671	T	0.67832	0.2935	L	0.42581	1.335	0.27474	N	0.952785	B;B	0.24920	0.093;0.114	B;B	0.30572	0.071;0.117	T	0.55780	-0.8087	10	0.25751	T	0.34	.	5.7551	0.18168	0.3726:0.5355:0.0:0.0919	.	325;325	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	H	325;311;234;202;325;325	ENSP00000337335:R325H;ENSP00000441658:R234H;ENSP00000443368:R202H;ENSP00000311463:R325H;ENSP00000398548:R325H	ENSP00000311463:R325H	R	-	2	0	SLC22A8	62519779	0.047000	0.20315	0.338000	0.25549	0.900000	0.52787	0.126000	0.15769	0.575000	0.29434	0.555000	0.69702	CGC	.	.		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
SLC22A12	116085	hgsc.bcm.edu	37	11	64359432	64359432	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:64359432T>A	ENST00000377574.1	+	1	1149		c.e1+2		SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GTGGCCAAGGTAGGGCCTCCC	0.627																																					.		Atlas-SNP	.											.	SLC22A12	68	.	0			c.402+2T>A						.						23.0	25.0	24.0					11																	64359432		2200	4297	6497	SO:0001630	splice_region_variant	116085	exon1			CCAAGGTAGGGCC	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.402+2T>A	chr11.hg19:g.64359432T>A		28.0	0.0		21.0	11.0	NM_001276326	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Splice_Site	SNP	ENST00000377574.1	hg19	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332027	0.60853	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	.	.	.	4.4	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0248	0.30430	0.0:0.1009:0.0:0.8991	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A12	64116008	1.000000	0.71417	0.227000	0.23927	0.963000	0.63663	5.532000	0.67154	0.548000	0.28955	0.397000	0.26171	.	.	.		0.627	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	Intron
SF1	7536	hgsc.bcm.edu	37	11	64536751	64536751	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:64536751C>A	ENST00000377390.3	-	7	1060	c.723G>T	c.(721-723)aaG>aaT	p.K241N	SF1_ENST00000377387.1_Missense_Mutation_p.K366N|SF1_ENST00000433274.2_Missense_Mutation_p.K215N|SF1_ENST00000334944.5_Missense_Mutation_p.K241N|SF1_ENST00000422298.2_Missense_Mutation_p.K126N|SF1_ENST00000227503.9_Missense_Mutation_p.K241N|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377394.3_Missense_Mutation_p.K241N	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	241					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GAAGCTGCATCTTCCGTAGAT	0.473																																					p.K366N		Atlas-SNP	.											.	SF1	124	.	0			c.G1098T						.						107.0	102.0	104.0					11																	64536751		2201	4297	6498	SO:0001583	missense	7536	exon7			CTGCATCTTCCGT	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.723G>T	chr11.hg19:g.64536751C>A	ENSP00000366607:p.Lys241Asn	131.0	0.0		126.0	51.0	NM_001178030	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	hg19	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162973	0.78226	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	6.03	4.17	0.49024	.	0.146778	0.64402	D	0.000020	T	0.58779	0.2146	M	0.75615	2.305	0.54753	D	0.999983	D;D;D;D;D;D	0.76494	0.996;0.999;0.999;0.999;0.999;0.999	P;D;D;P;D;D	0.68039	0.735;0.92;0.935;0.863;0.935;0.955	T	0.60198	-0.7310	10	0.87932	D	0	.	7.6255	0.28210	0.0:0.743:0.0:0.257	.	126;241;241;241;241;366	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	N	366;241;241;241;241;126;215	ENSP00000366604:K366N;ENSP00000366607:K241N;ENSP00000227503:K241N;ENSP00000366611:K241N;ENSP00000334414:K241N;ENSP00000413084:K126N;ENSP00000396793:K215N	ENSP00000227503:K241N	K	-	3	2	SF1	64293327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.873000	0.28052	0.873000	0.35799	0.557000	0.71058	AAG	.	.		0.473	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
CDC42BPG	55561	hgsc.bcm.edu	37	11	64601242	64601242	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:64601242T>A	ENST00000342711.5	-	22	2532	c.2533A>T	c.(2533-2535)Agg>Tgg	p.R845W	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCCTCCGGCCTCAGATCTGGC	0.667																																					p.R845W		Atlas-SNP	.											.	CDC42BPG	101	.	0			c.A2533T						.						45.0	48.0	47.0					11																	64601242		2201	4297	6498	SO:0001583	missense	55561	exon22			CCGGCCTCAGATC	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2533A>T	chr11.hg19:g.64601242T>A	ENSP00000345133:p.Arg845Trp	42.0	0.0		27.0	11.0	NM_017525		Missense_Mutation	SNP	ENST00000342711.5	hg19	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009772	0.54361	.	.	ENSG00000171219	ENST00000342711	T	0.68331	-0.32	5.18	2.68	0.31781	.	0.441757	0.19667	N	0.108849	T	0.60248	0.2254	N	0.08118	0	0.29738	N	0.83735	D	0.67145	0.996	P	0.62885	0.908	T	0.59563	-0.7431	10	0.66056	D	0.02	.	9.8156	0.40851	0.0:0.0:0.3265:0.6735	.	845	Q6DT37	MRCKG_HUMAN	W	845	ENSP00000345133:R845W	ENSP00000345133:R845W	R	-	1	2	CDC42BPG	64357818	0.968000	0.33430	1.000000	0.80357	0.096000	0.18686	1.141000	0.31528	0.917000	0.36895	-0.429000	0.05907	AGG	.	.		0.667	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	
PPP2R5B	5526	hgsc.bcm.edu	37	11	64699068	64699068	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:64699068G>C	ENST00000164133.2	+	10	1605	c.983G>C	c.(982-984)tGc>tCc	p.C328S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	328					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCAAAAACCTGCACCCAGAAG	0.597																																					p.C328S		Atlas-SNP	.											.	PPP2R5B	47	.	0			c.G983C						.						39.0	37.0	37.0					11																	64699068		2201	4297	6498	SO:0001583	missense	5526	exon10			AAACCTGCACCCA	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.983G>C	chr11.hg19:g.64699068G>C	ENSP00000164133:p.Cys328Ser	59.0	0.0		49.0	16.0	NM_006244	Q13853	Missense_Mutation	SNP	ENST00000164133.2	hg19	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091616	0.20471	.	.	ENSG00000068971	ENST00000164133;ENST00000527441	.	.	.	4.79	3.88	0.44766	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	L	0.33792	1.035	0.58432	D	0.999997	B	0.21821	0.061	B	0.25614	0.062	T	0.38329	-0.9666	9	0.46703	T	0.11	-10.7544	7.2705	0.26254	0.1958:0.0:0.8042:0.0	.	328	Q15173	2A5B_HUMAN	S	328	.	ENSP00000164133:C328S	C	+	2	0	PPP2R5B	64455644	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.006000	0.57083	1.378000	0.46305	0.462000	0.41574	TGC	.	.		0.597	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	
DRAP1	10589	hgsc.bcm.edu	37	11	65688799	65688799	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:65688799A>T	ENST00000312515.2	+	7	757		c.e7-1		DRAP1_ENST00000376991.2_Splice_Site|C11orf68_ENST00000449692.3_5'Flank|C11orf68_ENST00000530188.1_5'Flank|DRAP1_ENST00000532933.1_Splice_Site|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000527119.1_Splice_Site	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		TCTGCCCTGCAGCCCCCCGAC	0.667																																					.		Atlas-SNP	.											.	DRAP1	18	.	0			c.513-2A>T						.						55.0	54.0	54.0					11																	65688799		2201	4296	6497	SO:0001630	splice_region_variant	10589	exon7			CCCTGCAGCCCCC	U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550			3019	protein-coding gene	gene with protein product	"""negative cofactor 2 alpha"", ""DR1-associated corepressor"""	602289				8608938	Standard	NM_006442		Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.513-1A>T	chr11.hg19:g.65688799A>T		168.0	0.0		148.0	80.0	NM_006442	Q13448	Splice_Site	SNP	ENST00000312515.2	hg19	CCDS8123.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307140	0.23821	.	.	ENSG00000175550	ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9426	0.47283	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRAP1	65445375	1.000000	0.71417	0.961000	0.40146	0.095000	0.18619	3.333000	0.52090	1.921000	0.55644	0.533000	0.62120	.	.	.		0.667	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391197.2	NM_006442	Intron
FOLR1	2348	hgsc.bcm.edu	37	11	71907162	71907162	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:71907162T>A	ENST00000393679.1	+	5	1151	c.715T>A	c.(715-717)Tgg>Agg	p.W239R	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.W239R|FOLR1_ENST00000393681.2_Missense_Mutation_p.W239R|FOLR1_ENST00000312293.4_Missense_Mutation_p.W239R			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	239					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GGCTGGGCCCTGGGCAGCCTG	0.607																																					p.W239R		Atlas-SNP	.											.	FOLR1	22	.	0			c.T715A						.						62.0	55.0	57.0					11																	71907162		2200	4293	6493	SO:0001583	missense	2348	exon4			GGGCCCTGGGCAG	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.715T>A	chr11.hg19:g.71907162T>A	ENSP00000377284:p.Trp239Arg	99.0	0.0		84.0	39.0	NM_016729	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	hg19	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	t	6.465	0.453873	0.12283	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	4.55	-1.08	0.09936	.	4.012110	0.00357	N	0.000022	T	0.48554	0.1506	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	10	0.25106	T	0.35	-27.2398	3.239	0.06774	0.2954:0.3172:0.0:0.3874	.	239	P15328	FOLR1_HUMAN	R	239	ENSP00000308137:W239R;ENSP00000377286:W239R;ENSP00000377284:W239R;ENSP00000377281:W239R	ENSP00000308137:W239R	W	+	1	0	FOLR1	71584810	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.436000	0.02421	-0.422000	0.07405	-0.468000	0.05107	TGG	.	.		0.607	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725	
ATG16L2	89849	hgsc.bcm.edu	37	11	72538273	72538273	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:72538273G>T	ENST00000321297.5	+	14	1545	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	469					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTAATGACGTGGTGTGTGGGG	0.597																																					p.V469V		Atlas-SNP	.											.	ATG16L2	26	.	0			c.G1407T						.						127.0	107.0	114.0					11																	72538273		2200	4293	6493	SO:0001819	synonymous_variant	89849	exon14			TGACGTGGTGTGT	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1407G>T	chr11.hg19:g.72538273G>T		90.0	0.0		68.0	24.0	NM_033388	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Silent	SNP	ENST00000321297.5	hg19	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150409	0.21371	.	.	ENSG00000168010	ENST00000535830;ENST00000540222	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	T	0.65585	0.2705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64605	-0.6368	4	.	.	.	.	12.9444	0.58364	0.0779:0.0:0.9221:0.0	.	.	.	.	C	307;247	.	.	G	+	1	0	ATG16L2	72215921	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.182000	0.42556	1.529000	0.49120	0.561000	0.74099	GGT	.	.		0.597	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73066691	73066691	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:73066691A>G	ENST00000263674.3	+	4	3917	c.3567A>G	c.(3565-3567)ctA>ctG	p.L1189L	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1189	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						TCAAGTTCCTAGAGGTACTGT	0.567																																					p.L1189L		Atlas-SNP	.											.	ARHGEF17	117	.	0			c.A3567G						.						84.0	82.0	83.0					11																	73066691		2200	4293	6493	SO:0001819	synonymous_variant	9828	exon4			GTTCCTAGAGGTA	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.3567A>G	chr11.hg19:g.73066691A>G		57.0	0.0		53.0	20.0	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	hg19	CCDS8221.1																																																																																			.	.		0.567	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
OR2AT4	341152	hgsc.bcm.edu	37	11	74800166	74800166	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:74800166G>A	ENST00000305159.3	-	1	633	c.593C>T	c.(592-594)aCc>aTc	p.T198I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTCTGGGGGGTGGTGTCAGA	0.562																																					p.T198I		Atlas-SNP	.											.	OR2AT4	32	.	0			c.C593T						.						55.0	49.0	51.0					11																	74800166		2200	4293	6493	SO:0001583	missense	341152	exon1			TGGGGGGTGGTGT	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.593C>T	chr11.hg19:g.74800166G>A	ENSP00000304846:p.Thr198Ile	58.0	0.0		55.0	24.0	NM_001005285	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	hg19	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464984	0.26335	.	.	ENSG00000171561	ENST00000305159	T	0.37584	1.19	5.26	-0.153	0.13403	GPCR, rhodopsin-like superfamily (1);	0.309092	0.18006	U	0.154745	T	0.23611	0.0571	N	0.25957	0.775	0.09310	N	1	B	0.26147	0.143	B	0.36567	0.228	T	0.23726	-1.0180	10	0.45353	T	0.12	.	2.4318	0.04473	0.1617:0.2508:0.4485:0.1391	.	198	A6NND4	O2AT4_HUMAN	I	198	ENSP00000304846:T198I	ENSP00000304846:T198I	T	-	2	0	OR2AT4	74477814	0.000000	0.05858	0.001000	0.08648	0.778000	0.44026	-3.404000	0.00482	-0.200000	0.10300	0.650000	0.86243	ACC	.	.		0.562	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
KLHL35	283212	hgsc.bcm.edu	37	11	75139660	75139660	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:75139660A>G	ENST00000539798.1	-	2	892	c.893T>C	c.(892-894)cTa>cCa	p.L298P	KLHL35_ENST00000376292.4_Missense_Mutation_p.L78P	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	298										lung(2)|stomach(1)	3						CACTTCAGCTAGGTCCATGAA	0.627																																					p.L298P	Colon(77;683 1691 18820 23811)	Atlas-SNP	.											.	KLHL35	15	.	0			c.T893C						.						37.0	43.0	41.0					11																	75139660		2039	4170	6209	SO:0001583	missense	283212	exon2			TCAGCTAGGTCCA		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.893T>C	chr11.hg19:g.75139660A>G	ENSP00000438526:p.Leu298Pro	37.0	0.0		31.0	17.0	NM_001039548	A2RU06|F5H412|Q86XM7|Q8NBB1	Missense_Mutation	SNP	ENST00000539798.1	hg19	CCDS44685.2	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354756	0.61293	.	.	ENSG00000149243	ENST00000376292;ENST00000539798	T;T	0.72835	-0.69;-0.57	5.41	1.57	0.23409	.	0.427892	0.20925	N	0.083218	T	0.80491	0.4633	M	0.86028	2.79	0.53005	D	0.999963	D	0.69078	0.997	D	0.65010	0.931	T	0.76280	-0.3017	10	0.49607	T	0.09	.	6.0915	0.19997	0.5699:0.1473:0.0:0.2829	.	78	Q6PF15	KLH35_HUMAN	P	78;298	ENSP00000365469:L78P;ENSP00000438526:L298P	ENSP00000365469:L78P	L	-	2	0	KLHL35	74817308	0.879000	0.30193	0.878000	0.34440	0.998000	0.95712	1.535000	0.36061	0.089000	0.17243	0.459000	0.35465	CTA	.	.		0.627	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583	
MYO7A	4647	hgsc.bcm.edu	37	11	76903162	76903162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:76903162A>T	ENST00000409709.3	+	31	4263	c.3991A>T	c.(3991-3993)Aag>Tag	p.K1331*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K1331*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K1320*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1331	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGTACGCCAAGGAGCAGGG	0.672											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K1331X		Atlas-SNP	.											MYO7A,NS,carcinoma,0,1	MYO7A	164	.	0			c.A3991T						.						49.0	57.0	54.0					11																	76903162		2107	4207	6314	SO:0001587	stop_gained	4647	exon31			TACGCCAAGGAGC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3991A>T	chr11.hg19:g.76903162A>T	ENSP00000386331:p.Lys1331*	128.0	0.0	1171	110.0	57.0	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Nonsense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	38	7.194313	0.98125	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0222	0.64563	1.0:0.0:0.0:0.0	.	.	.	.	X	1331;1331;1320;542;1330;1300;1207;512	.	ENSP00000345075:K1207X	K	+	1	0	MYO7A	76580810	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.953000	0.93041	1.710000	0.51325	0.386000	0.25728	AAG	.	.		0.672	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
TENM4	26011	hgsc.bcm.edu	37	11	78614413	78614413	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:78614413C>G	ENST00000278550.7	-	7	1111	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	217	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCGAGTGGTCCGTGGGGGCC	0.701																																					p.D217H		Atlas-SNP	.											.	.	.	.	0			c.G649C						.						16.0	18.0	18.0					11																	78614413		692	1591	2283	SO:0001583	missense	26011	exon7			AGTGGTCCGTGGG	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.649G>C	chr11.hg19:g.78614413C>G	ENSP00000278550:p.Asp217His	39.0	0.0		19.0	10.0	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	hg19	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796417	0.90453	.	.	ENSG00000149256	ENST00000278550;ENST00000533074	T;T	0.47869	0.83;0.83	5.42	5.42	0.78866	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	L	0.50333	1.59	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.61357	-0.7079	9	.	.	.	.	19.2039	0.93722	0.0:1.0:0.0:0.0	.	217	Q6N022	TEN4_HUMAN	H	217;62	ENSP00000278550:D217H;ENSP00000432705:D62H	.	D	-	1	0	ODZ4	78292061	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	6.700000	0.74619	2.543000	0.85770	0.561000	0.74099	GAC	.	.		0.701	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
SYTL2	54843	hgsc.bcm.edu	37	11	85436399	85436399	+	Intron	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:85436399G>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Silent_p.P367P|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Silent_p.P367P|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Silent_p.P891P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGCATCCTGGGGAAAAAGCA	0.493																																					p.P367P		Atlas-SNP	.											.	SYTL2	231	.	0			c.C1101A						.						49.0	52.0	51.0					11																	85436399		2203	4299	6502	SO:0001627	intron_variant	54843	exon1			ATCCTGGGGAAAA	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2539C>A	chr11.hg19:g.85436399G>T		58.0	0.0		53.0	29.0	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	hg19	CCDS53688.1																																																																																			.	.		0.493	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
CCDC81	60494	hgsc.bcm.edu	37	11	86103710	86103710	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:86103710A>T	ENST00000445632.2	+	4	698	c.426A>T	c.(424-426)caA>caT	p.Q142H	CCDC81_ENST00000528728.1_5'Flank|CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Intron	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	142										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CCATGAAACAAAATGTGGAGT	0.403																																					p.Q142H		Atlas-SNP	.											.	CCDC81	89	.	0			c.A426T						.						226.0	187.0	199.0					11																	86103710		692	1591	2283	SO:0001583	missense	60494	exon4			GAAACAAAATGTG	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.426A>T	chr11.hg19:g.86103710A>T	ENSP00000415528:p.Gln142His	130.0	0.0		106.0	38.0	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	hg19	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936381	0.34189	.	.	ENSG00000149201	ENST00000445632	T	0.49720	0.77	5.82	-2.38	0.06622	.	.	.	.	.	T	0.51669	0.1688	L	0.59436	1.845	0.22835	N	0.998676	D	0.53151	0.958	P	0.54312	0.748	T	0.50162	-0.8860	8	.	.	.	-4.9231	9.3772	0.38290	0.2676:0.144:0.5884:0.0	.	142	Q6ZN84	CCD81_HUMAN	H	142	ENSP00000415528:Q142H	.	Q	+	3	2	CCDC81	85781358	0.816000	0.29132	0.001000	0.08648	0.003000	0.03518	0.326000	0.19646	-0.422000	0.07405	-0.408000	0.06270	CAA	.	.		0.403	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
CCDC81	60494	hgsc.bcm.edu	37	11	86108753	86108753	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:86108753A>T	ENST00000445632.2	+	6	998	c.726A>T	c.(724-726)aaA>aaT	p.K242N	CCDC81_ENST00000528728.1_Missense_Mutation_p.K25N|CCDC81_ENST00000278487.3_Missense_Mutation_p.K25N|CCDC81_ENST00000354755.1_Missense_Mutation_p.K152N	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	242										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GCAAGTTAAAAGACCAGTCAG	0.448																																					p.K242N		Atlas-SNP	.											.	CCDC81	89	.	0			c.A726T						.						113.0	108.0	110.0					11																	86108753		2202	4299	6501	SO:0001583	missense	60494	exon6			GTTAAAAGACCAG	AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.726A>T	chr11.hg19:g.86108753A>T	ENSP00000415528:p.Lys242Asn	45.0	0.0		40.0	16.0	NM_001156474	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	hg19	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292792	0.40594	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.29	4.14	0.48551	.	0.482292	0.21359	N	0.075834	T	0.35189	0.0923	M	0.67953	2.075	0.09310	N	1	B;B;B	0.27997	0.197;0.153;0.009	B;B;B	0.28465	0.09;0.081;0.011	T	0.21759	-1.0236	9	.	.	.	-9.8979	9.4595	0.38776	0.8212:0.1788:0.0:0.0	.	25;242;152	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	N	152;25;242;25	ENSP00000346800:K152N;ENSP00000278487:K25N;ENSP00000415528:K242N;ENSP00000437165:K25N	.	K	+	3	2	CCDC81	85786401	0.998000	0.40836	0.039000	0.18376	0.081000	0.17604	1.967000	0.40491	0.929000	0.37192	0.460000	0.39030	AAA	.	.		0.448	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
CTSC	1075	hgsc.bcm.edu	37	11	88042455	88042455	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:88042455T>A	ENST00000227266.5	-	4	631	c.517A>T	c.(517-519)Aac>Tac	p.N173Y		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	173					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCACAAAGTTGTGATCATAC	0.363																																					p.N173Y		Atlas-SNP	.											.	CTSC	46	.	0			c.A517T						.						161.0	140.0	147.0					11																	88042455		2201	4299	6500	SO:0001583	missense	1075	exon4			CAAAGTTGTGATC	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.517A>T	chr11.hg19:g.88042455T>A	ENSP00000227266:p.Asn173Tyr	73.0	0.0		55.0	23.0	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	hg19	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822601	0.50739	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.84298	-1.83	6.02	-1.14	0.09741	.	0.643940	0.17443	N	0.174051	T	0.79240	0.4412	L	0.43152	1.355	0.09310	N	1	B;B	0.31054	0.148;0.306	B;B	0.37198	0.163;0.243	T	0.66937	-0.5797	9	.	.	.	.	11.7393	0.51784	0.0:0.7265:0.0:0.2735	.	156;173	B4DJQ8;P53634	.;CATC_HUMAN	Y	156;173	ENSP00000227266:N173Y	.	N	-	1	0	CTSC	87682103	0.077000	0.21312	0.003000	0.11579	0.584000	0.36387	0.391000	0.20784	-0.136000	0.11475	0.528000	0.53228	AAC	.	.		0.363	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
NOX4	50507	hgsc.bcm.edu	37	11	89069089	89069089	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:89069089C>G	ENST00000263317.4	-	17	1778	c.1540G>C	c.(1540-1542)Gca>Cca	p.A514P	NOX4_ENST00000532825.1_Missense_Mutation_p.A450P|NOX4_ENST00000424319.1_Missense_Mutation_p.A490P|NOX4_ENST00000375979.3_Missense_Mutation_p.A207P|NOX4_ENST00000527626.1_Missense_Mutation_p.A327P|NOX4_ENST00000413594.2_Missense_Mutation_p.A535P|NOX4_ENST00000528341.1_Missense_Mutation_p.A489P|NOX4_ENST00000535633.1_Missense_Mutation_p.A490P|NOX4_ENST00000343727.5_Missense_Mutation_p.A490P|NOX4_ENST00000534731.1_Missense_Mutation_p.A474P|NOX4_ENST00000531342.1_Missense_Mutation_p.A167P|NOX4_ENST00000542487.1_Missense_Mutation_p.A490P|NOX4_ENST00000525196.1_Missense_Mutation_p.A278P|NOX4_ENST00000527956.1_Missense_Mutation_p.A490P			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	514	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAATTCAGTGCATGATATTTT	0.333																																					p.A514P		Atlas-SNP	.											.	NOX4	101	.	0			c.G1540C						.						70.0	70.0	70.0					11																	89069089		2201	4296	6497	SO:0001583	missense	50507	exon17			TCAGTGCATGATA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1540G>C	chr11.hg19:g.89069089C>G	ENSP00000263317:p.Ala514Pro	255.0	1.0		231.0	99.0	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	hg19	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432397	0.25813	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67;-3.67;-3.67;-3.67;-3.67;-3.34;-3.67;-3.67;-3.67;-3.67	4.33	2.42	0.29668	Ferric reductase, NAD binding (1);	0.308515	0.35235	N	0.003357	D	0.85860	0.5795	N	0.11845	0.185	0.31079	N	0.712156	B;B;B;B;B;B;B;B	0.28584	0.001;0.001;0.001;0.216;0.0;0.003;0.001;0.0	B;B;B;B;B;B;B;B	0.28465	0.005;0.008;0.006;0.09;0.001;0.002;0.006;0.005	T	0.79029	-0.1970	9	.	.	.	-4.9072	9.8607	0.41112	0.0:0.8277:0.0:0.1723	.	450;327;489;278;167;207;474;514	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	P	490;490;490;474;278;514;450;490;490;327;489;535;167;207	ENSP00000412446:A490P;ENSP00000440172:A490P;ENSP00000344747:A490P;ENSP00000436892:A474P;ENSP00000436716:A278P;ENSP00000263317:A514P;ENSP00000434924:A450P;ENSP00000433797:A490P;ENSP00000439373:A490P;ENSP00000436093:A327P;ENSP00000436970:A489P;ENSP00000405705:A535P;ENSP00000435039:A167P;ENSP00000365146:A207P	.	A	-	1	0	NOX4	88708737	0.995000	0.38212	0.892000	0.35008	0.899000	0.52679	2.824000	0.48088	0.379000	0.24794	-0.244000	0.11960	GCA	.	.		0.333	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
NAALAD2	10003	hgsc.bcm.edu	37	11	89907042	89907042	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:89907042G>T	ENST00000534061.1	+	14	1691	c.1461G>T	c.(1459-1461)tgG>tgT	p.W487C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.W454C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	487	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATGAAAGCTGGTTGGAAAAAG	0.393																																					p.W487C		Atlas-SNP	.											.	NAALAD2	113	.	0			c.G1461T						.						117.0	121.0	120.0					11																	89907042		2201	4299	6500	SO:0001583	missense	10003	exon14			AAGCTGGTTGGAA	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1461G>T	chr11.hg19:g.89907042G>T	ENSP00000432481:p.Trp487Cys	103.0	0.0		103.0	46.0	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017389	0.75161	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.40756	1.02;1.02	5.95	5.95	0.96441	Peptidase M28 (1);	0.000000	0.64402	D	0.000001	T	0.78547	0.4300	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84920	0.0853	9	.	.	.	-5.8978	20.3931	0.98965	0.0:0.0:1.0:0.0	.	487	Q9Y3Q0	NALD2_HUMAN	C	487;454	ENSP00000432481:W487C;ENSP00000320083:W454C	.	W	+	3	0	NAALAD2	89546690	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.044000	0.76578	2.824000	0.97209	0.655000	0.94253	TGG	.	.		0.393	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
FAT3	120114	hgsc.bcm.edu	37	11	92523226	92523226	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:92523226A>T	ENST00000298047.6	+	7	4470	c.4453A>T	c.(4453-4455)Aca>Tca	p.T1485S	FAT3_ENST00000409404.2_Missense_Mutation_p.T1485S|FAT3_ENST00000525166.1_Missense_Mutation_p.T1335S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1485	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATTGAAGCCACAGATAGAGA	0.473										TCGA Ovarian(4;0.039)																											p.T1485S		Atlas-SNP	.											.	FAT3	1822	.	0			c.A4453T						.						177.0	172.0	174.0					11																	92523226		2074	4226	6300	SO:0001583	missense	120114	exon7			GAAGCCACAGATA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4453A>T	chr11.hg19:g.92523226A>T	ENSP00000298047:p.Thr1485Ser	138.0	0.0		131.0	61.0	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	A	14.18	2.459033	0.43634	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02345	4.33;4.33;4.33	6.17	6.17	0.99709	.	.	.	.	.	T	0.04318	0.0119	L	0.45352	1.415	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.50285	-0.8846	9	0.25106	T	0.35	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1485	Q8TDW7-3	.	S	1485;1485;1335	ENSP00000298047:T1485S;ENSP00000387040:T1485S;ENSP00000432586:T1335S	ENSP00000298047:T1485S	T	+	1	0	FAT3	92162874	0.987000	0.35691	1.000000	0.80357	0.872000	0.50106	4.756000	0.62205	2.371000	0.80710	0.533000	0.62120	ACA	.	.		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HEPHL1	341208	hgsc.bcm.edu	37	11	93806484	93806484	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:93806484C>G	ENST00000315765.9	+	8	1391	c.1383C>G	c.(1381-1383)atC>atG	p.I461M		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	461	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCAGTCATCAAGGCAGAGG	0.438																																					p.I461M		Atlas-SNP	.											.	HEPHL1	144	.	0			c.C1383G						.						55.0	51.0	52.0					11																	93806484		1895	4111	6006	SO:0001583	missense	341208	exon8			AGTCATCAAGGCA	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1383C>G	chr11.hg19:g.93806484C>G	ENSP00000313699:p.Ile461Met	85.0	0.0		70.0	34.0	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	hg19	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117797	0.56505	.	.	ENSG00000181333	ENST00000315765	D	0.99695	-6.43	5.51	3.59	0.41128	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.055403	0.64402	D	0.000002	D	0.99687	0.9882	M	0.88310	2.945	0.34529	D	0.70899	D	0.65815	0.995	D	0.72075	0.976	D	0.98045	1.0384	10	0.72032	D	0.01	.	14.3632	0.66787	0.4029:0.5971:0.0:0.0	.	461	Q6MZM0	HPHL1_HUMAN	M	461	ENSP00000313699:I461M	ENSP00000313699:I461M	I	+	3	3	HEPHL1	93446132	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.730000	0.38125	0.646000	0.30693	0.650000	0.86243	ATC	.	.		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
FOLR4	390243	hgsc.bcm.edu	37	11	94040439	94040439	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:94040439T>A	ENST00000440961.2	+	3	480	c.436T>A	c.(436-438)Tgg>Agg	p.W146R		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	153					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAATCCAACTGGCGTGGTGG	0.602																																					p.W153R		Atlas-SNP	.											.	FOLR4	31	.	0			c.T457A						.						92.0	100.0	97.0					11																	94040439		2197	4297	6494	SO:0001583	missense	390243	exon3			TCCAACTGGCGTG			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.436T>A	chr11.hg19:g.94040439T>A	ENSP00000416935:p.Trp146Arg	97.0	0.0		65.0	30.0	NM_001199206		Missense_Mutation	SNP	ENST00000440961.2	hg19		.	.	.	.	.	.	.	.	.	.	T	18.49	3.636228	0.67130	.	.	ENSG00000183560	ENST00000440961	T	0.78707	-1.2	4.43	3.28	0.37604	.	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	M	0.88570	2.965	0.51012	D	0.999904	D	0.89917	1.0	D	0.85130	0.997	D	0.88114	0.2827	10	0.87932	D	0	-32.3639	9.556	0.39339	0.0:0.0:0.1774:0.8226	.	146	A6ND01-2	.	R	146	ENSP00000416935:W146R	ENSP00000416935:W146R	W	+	1	0	FOLR4	93680087	1.000000	0.71417	0.978000	0.43139	0.111000	0.19643	7.192000	0.77771	0.830000	0.34757	0.402000	0.26972	TGG	.	.		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486	
GPR83	10888	hgsc.bcm.edu	37	11	94113896	94113896	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:94113896G>T	ENST00000243673.2	-	4	862	c.691C>A	c.(691-693)Cca>Aca	p.P231T	GPR83_ENST00000539203.2_Missense_Mutation_p.P189T	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	231					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTCAGCTGGCTCAGGGAAG	0.577																																					p.P231T		Atlas-SNP	.											.	GPR83	47	.	0			c.C691A						.						74.0	73.0	73.0					11																	94113896		2201	4298	6499	SO:0001583	missense	10888	exon4			CAGCTGGCTCAGG	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.691C>A	chr11.hg19:g.94113896G>T	ENSP00000243673:p.Pro231Thr	41.0	0.0		31.0	12.0	NM_016540	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	hg19	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692917	0.68271	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.36520	1.25;1.25	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.107942	0.64402	D	0.000004	T	0.41834	0.1176	L	0.31926	0.97	0.80722	D	1	P	0.41366	0.747	P	0.49561	0.615	T	0.16041	-1.0416	10	0.44086	T	0.13	.	17.7794	0.88519	0.0:0.0:1.0:0.0	.	231	Q9NYM4	GPR83_HUMAN	T	231;189	ENSP00000243673:P231T;ENSP00000441550:P189T	ENSP00000243673:P231T	P	-	1	0	GPR83	93753544	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.587000	0.98229	2.535000	0.85469	0.655000	0.94253	CCA	.	.		0.577	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
PIWIL4	143689	hgsc.bcm.edu	37	11	94354059	94354059	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:94354059A>T	ENST00000299001.6	+	20	2671	c.2460A>T	c.(2458-2460)ccA>ccT	p.P820P	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA|PIWIL4_ENST00000537419.1_Silent_p.P171P	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	820	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAGTGTCCCAGCACCATGTC	0.393																																					p.P820P		Atlas-SNP	.											.	PIWIL4	70	.	0			c.A2460T						.						68.0	61.0	63.0					11																	94354059		2201	4298	6499	SO:0001819	synonymous_variant	143689	exon20			TGTCCCAGCACCA	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.2460A>T	chr11.hg19:g.94354059A>T		82.0	0.0		86.0	40.0	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	hg19	CCDS31656.1																																																																																			.	.		0.393	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
MMP7	4316	hgsc.bcm.edu	37	11	102394039	102394039	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:102394039T>A	ENST00000260227.4	-	5	759	c.707A>T	c.(706-708)tAt>tTt	p.Y236F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	236					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	TCCATTTCCATAGGTTGGATA	0.363																																					p.Y236F		Atlas-SNP	.											.	MMP7	27	.	0			c.A707T						.						91.0	90.0	90.0					11																	102394039		2203	4299	6502	SO:0001583	missense	4316	exon5			TTTCCATAGGTTG	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.707A>T	chr11.hg19:g.102394039T>A	ENSP00000260227:p.Tyr236Phe	95.0	0.0		77.0	20.0	NM_002423	Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	hg19	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595015	0.46318	.	.	ENSG00000137673	ENST00000260227	T	0.25250	1.81	5.36	5.36	0.76844	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.53938	D	0.000060	T	0.57725	0.2073	M	0.92459	3.31	0.41216	D	0.986475	D	0.89917	1.0	D	0.91635	0.999	T	0.67288	-0.5708	10	0.87932	D	0	-18.2624	9.8139	0.40840	0.0:0.0765:0.0:0.9235	.	236	P09237	MMP7_HUMAN	F	236	ENSP00000260227:Y236F	ENSP00000260227:Y236F	Y	-	2	0	MMP7	101899249	1.000000	0.71417	0.057000	0.19452	0.079000	0.17450	4.820000	0.62671	2.036000	0.60181	0.528000	0.53228	TAT	.	.		0.363	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
MMP10	4319	hgsc.bcm.edu	37	11	102642848	102642848	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:102642848T>A	ENST00000279441.4	-	9	1263		c.e9-2			NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCATCAAATCTAAACCAAATG	0.388																																					.		Atlas-SNP	.											.	MMP10	44	.	0			c.1227-2A>T						.						80.0	72.0	75.0					11																	102642848		2203	4299	6502	SO:0001630	splice_region_variant	4319	exon10			CAAATCTAAACCA	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1227-2A>T	chr11.hg19:g.102642848T>A		55.0	0.0		53.0	17.0	NM_002425	B2R9X9|Q53HH9	Splice_Site	SNP	ENST00000279441.4	hg19	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.822039	0.50739	.	.	ENSG00000166670	ENST00000279441	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.553	0.61743	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP10	102148058	1.000000	0.71417	0.988000	0.46212	0.601000	0.36947	4.289000	0.59013	1.821000	0.53095	0.524000	0.50904	.	.	.		0.388	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		Intron
DYNC2H1	79659	hgsc.bcm.edu	37	11	102984375	102984375	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:102984375A>T	ENST00000375735.2	+	2	449	c.305A>T	c.(304-306)gAg>gTg	p.E102V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E102V|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.E102V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	102	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTATGTTAGAGTCACCTATT	0.363																																					p.E102V		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.A305T						.						142.0	135.0	137.0					11																	102984375		1865	4096	5961	SO:0001583	missense	79659	exon2			TGTTAGAGTCACC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.305A>T	chr11.hg19:g.102984375A>T	ENSP00000364887:p.Glu102Val	140.0	0.0		122.0	56.0	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178855	0.78564	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.32515	1.6;1.45;1.61	6.17	6.17	0.99709	.	0.353337	0.20583	U	0.089485	T	0.39384	0.1076	L	0.51422	1.61	0.54753	D	0.999985	P;B;B	0.45212	0.853;0.047;0.135	P;B;B	0.46850	0.529;0.053;0.128	T	0.10314	-1.0635	10	0.51188	T	0.08	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	102;102;102	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	V	102	ENSP00000364887:E102V;ENSP00000334021:E102V;ENSP00000381167:E102V	ENSP00000334021:E102V	E	+	2	0	DYNC2H1	102489585	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.719000	0.91436	2.371000	0.80710	0.533000	0.62120	GAG	.	.		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	hgsc.bcm.edu	37	11	103018556	103018556	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:103018556G>T	ENST00000375735.2	+	19	2902	c.2758G>T	c.(2758-2760)Gat>Tat	p.D920Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D920Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	920	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACTGTGATTGATGATCTCAT	0.299																																					p.D920Y		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.G2758T						.						118.0	116.0	117.0					11																	103018556		1843	4077	5920	SO:0001583	missense	79659	exon19			GTGATTGATGATC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2758G>T	chr11.hg19:g.103018556G>T	ENSP00000364887:p.Asp920Tyr	49.0	0.0		43.0	21.0	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746528	0.89663	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29397	1.57;1.57	5.49	5.49	0.81192	.	0.499919	0.16053	U	0.231871	T	0.64327	0.2588	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	T	0.66956	-0.5792	10	0.59425	D	0.04	.	19.7446	0.96247	0.0:0.0:1.0:0.0	.	920;920	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	920	ENSP00000364887:D920Y;ENSP00000381167:D920Y	ENSP00000364887:D920Y	D	+	1	0	DYNC2H1	102523766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.374000	0.97172	2.751000	0.94390	0.650000	0.86243	GAT	.	.		0.299	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
GRIA4	2893	hgsc.bcm.edu	37	11	105732861	105732861	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:105732861A>T	ENST00000530497.1	+	4	599	c.599A>T	c.(598-600)gAa>gTa	p.E200V	GRIA4_ENST00000428631.2_Missense_Mutation_p.E200V|GRIA4_ENST00000525187.1_Missense_Mutation_p.E200V|GRIA4_ENST00000393125.2_Missense_Mutation_p.E200V|GRIA4_ENST00000282499.5_Missense_Mutation_p.E200V|GRIA4_ENST00000393127.2_Missense_Mutation_p.E200V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	200					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTTCTAGAAGAACTTGACAGA	0.348																																					p.E200V		Atlas-SNP	.											.	GRIA4	380	.	0			c.A599T						.						72.0	73.0	73.0					11																	105732861		2202	4299	6501	SO:0001583	missense	2893	exon5			TAGAAGAACTTGA	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.599A>T	chr11.hg19:g.105732861A>T	ENSP00000435775:p.Glu200Val	98.0	0.0		90.0	41.0	NM_001077244	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	hg19	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579172	0.86645	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.49	5.49	0.81192	Extracellular ligand-binding receptor (1);	0.079286	0.51477	D	0.000091	D	0.88306	0.6401	L	0.58101	1.795	0.52501	D	0.999951	P;P;P;P	0.45428	0.749;0.829;0.858;0.736	P;P;P;P	0.58454	0.839;0.642;0.756;0.595	D	0.89404	0.3698	10	0.87932	D	0	.	15.5825	0.76455	1.0:0.0:0.0:0.0	.	200;200;230;200	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	V	200	ENSP00000376833:E200V;ENSP00000282499:E200V;ENSP00000376835:E200V;ENSP00000415551:E200V;ENSP00000435775:E200V;ENSP00000432180:E200V	ENSP00000282499:E200V	E	+	2	0	GRIA4	105238071	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.893000	0.92498	2.084000	0.62774	0.455000	0.32223	GAA	.	.		0.348	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	hgsc.bcm.edu	37	11	105769103	105769103	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:105769103T>A	ENST00000530497.1	+	6	835	c.835T>A	c.(835-837)Tgg>Agg	p.W279R	GRIA4_ENST00000428631.2_Missense_Mutation_p.W279R|GRIA4_ENST00000525187.1_Missense_Mutation_p.W279R|GRIA4_ENST00000393125.2_Missense_Mutation_p.W279R|GRIA4_ENST00000282499.5_Missense_Mutation_p.W279R|GRIA4_ENST00000393127.2_Missense_Mutation_p.W279R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	279					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AATGGATCGCTGGAAGAAACT	0.358																																					p.W279R		Atlas-SNP	.											.	GRIA4	380	.	0			c.T835A						.						60.0	61.0	61.0					11																	105769103		2202	4299	6501	SO:0001583	missense	2893	exon7			GATCGCTGGAAGA	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.835T>A	chr11.hg19:g.105769103T>A	ENSP00000435775:p.Trp279Arg	153.0	0.0		143.0	61.0	NM_001077244	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	hg19	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303495	0.81136	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.89448	0.6718	L	0.60455	1.87	0.80722	D	1	D;P;D	0.89917	0.991;0.901;1.0	D;P;D	0.78314	0.947;0.695;0.991	D	0.90446	0.4435	10	0.87932	D	0	.	16.0037	0.80327	0.0:0.0:0.0:1.0	.	279;279;279	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	R	279	ENSP00000376833:W279R;ENSP00000282499:W279R;ENSP00000376835:W279R;ENSP00000415551:W279R;ENSP00000435775:W279R;ENSP00000432180:W279R	ENSP00000282499:W279R	W	+	1	0	GRIA4	105274313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.668000	0.83897	2.184000	0.69523	0.533000	0.62120	TGG	.	.		0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	hgsc.bcm.edu	37	11	105795169	105795169	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:105795169A>G	ENST00000530497.1	+	11	1521	c.1521A>G	c.(1519-1521)cgA>cgG	p.R507R	GRIA4_ENST00000525187.1_Silent_p.R507R|GRIA4_ENST00000282499.5_Silent_p.R507R|GRIA4_ENST00000393127.2_Silent_p.R507R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	507					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTTTGGTACGAGAGGAGGTCA	0.393																																					p.R507R		Atlas-SNP	.											.	GRIA4	380	.	0			c.A1521G						.						128.0	126.0	127.0					11																	105795169		2202	4299	6501	SO:0001819	synonymous_variant	2893	exon12			GGTACGAGAGGAG	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1521A>G	chr11.hg19:g.105795169A>G		99.0	0.0		64.0	31.0	NM_001077243	Q86XE8	Silent	SNP	ENST00000530497.1	hg19	CCDS8333.1																																																																																			.	.		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	hgsc.bcm.edu	37	11	105795274	105795274	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:105795274T>A	ENST00000530497.1	+	11	1626	c.1626T>A	c.(1624-1626)ccT>ccA	p.P542P	GRIA4_ENST00000525187.1_Silent_p.P542P|GRIA4_ENST00000282499.5_Silent_p.P542P|GRIA4_ENST00000393127.2_Silent_p.P542P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	542					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCTTGGATCCTCTGGCCTATG	0.423																																					p.P542P		Atlas-SNP	.											.	GRIA4	380	.	0			c.T1626A						.						198.0	183.0	188.0					11																	105795274		2202	4299	6501	SO:0001819	synonymous_variant	2893	exon12			GGATCCTCTGGCC	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1626T>A	chr11.hg19:g.105795274T>A		128.0	0.0		127.0	63.0	NM_001077243	Q86XE8	Silent	SNP	ENST00000530497.1	hg19	CCDS8333.1																																																																																			.	.		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
SLC35F2	54733	hgsc.bcm.edu	37	11	107673871	107673871	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:107673871G>T	ENST00000525815.1	-	7	1215	c.795C>A	c.(793-795)ttC>ttA	p.F265L	SLC35F2_ENST00000525071.1_Missense_Mutation_p.F265L|SLC35F2_ENST00000265836.7_Missense_Mutation_p.F117L|SLC35F2_ENST00000429869.1_Missense_Mutation_p.F265L|SLC35F2_ENST00000375682.4_Missense_Mutation_p.F218L	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	265					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F265F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CAAATGCCACGAACAGCAGGG	0.443																																					p.F265L		Atlas-SNP	.											SLC35F2,NS,carcinoma,0,2	SLC35F2	29	.	1	Substitution - coding silent(1)	endometrium(1)	c.C795A						.						57.0	53.0	54.0					11																	107673871		1962	4145	6107	SO:0001583	missense	54733	exon7			TGCCACGAACAGC		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.795C>A	chr11.hg19:g.107673871G>T	ENSP00000436785:p.Phe265Leu	242.0	0.0		191.0	77.0	NM_017515	Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	hg19	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	G	4.360	0.066285	0.08388	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.13	-4.21	0.03812	.	0.051897	0.85682	D	0.000000	T	0.35393	0.0930	N	0.12887	0.27	0.40400	D	0.97963	B	0.21381	0.055	B	0.26969	0.075	T	0.15009	-1.0452	10	0.13470	T	0.59	.	10.5993	0.45358	0.3688:0.108:0.5232:0.0	.	265	Q8IXU6	S35F2_HUMAN	L	265;265;117;218;265	ENSP00000436785:F265L;ENSP00000265836:F117L;ENSP00000364834:F218L;ENSP00000393571:F265L	ENSP00000265836:F117L	F	-	3	2	SLC35F2	107179081	0.984000	0.35163	0.158000	0.22627	0.438000	0.31896	0.972000	0.29409	-1.519000	0.01775	-1.641000	0.00772	TTC	.	.		0.443	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515	
ATM	472	hgsc.bcm.edu	37	11	108175446	108175446	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:108175446T>C	ENST00000452508.2	+	38	5730	c.5541T>C	c.(5539-5541)caT>caC	p.H1847H	ATM_ENST00000278616.4_Silent_p.H1847H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1847					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACTTGATTCATGATATTTTAC	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.H1847H		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	ATM	1657	.	0			c.T5541C						.						74.0	71.0	72.0					11																	108175446		2201	4298	6499	SO:0001819	synonymous_variant	472	exon37	Familial Cancer Database	AT, Louis-Bar syndrome	GATTCATGATATT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5541T>C	chr11.hg19:g.108175446T>C		70.0	0.0		47.0	20.0	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	hg19	CCDS31669.1																																																																																			.	.		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
C11orf65	160140	hgsc.bcm.edu	37	11	108253873	108253873	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:108253873T>G	ENST00000529391.1	-	8	826	c.817A>C	c.(817-819)Ata>Cta	p.I273L	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.I273L|C11orf65_ENST00000525729.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	273										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TAGTTATATATGTTTTTCTGT	0.313																																					p.I273L		Atlas-SNP	.											.	C11orf65	29	.	0			c.A817C						.						109.0	113.0	112.0					11																	108253873		2201	4294	6495	SO:0001583	missense	160140	exon9			TATATATGTTTTT	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.817A>C	chr11.hg19:g.108253873T>G	ENSP00000436400:p.Ile273Leu	78.0	0.0		64.0	23.0	NM_152587	B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	hg19	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	0.091	-1.167069	0.01660	.	.	ENSG00000166323	ENST00000529391;ENST00000393084	.	.	.	4.2	-0.0167	0.13971	.	0.918018	0.09153	N	0.841259	T	0.18635	0.0447	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31280	-0.9949	9	0.07813	T	0.8	-2.7239	3.5708	0.07917	0.0:0.2879:0.2128:0.4993	.	273	Q8NCR3	CK065_HUMAN	L	273	.	ENSP00000376799:I273L	I	-	1	0	C11orf65	107759083	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.221000	0.17680	-0.008000	0.14320	0.533000	0.62120	ATA	.	.		0.313	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587	
CADM1	23705	hgsc.bcm.edu	37	11	115080321	115080321	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:115080321T>C	ENST00000452722.3	-	8	1071	c.1051A>G	c.(1051-1053)Acc>Gcc	p.T351A	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Missense_Mutation_p.T351A|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.T351A	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtggtggtggtggtggtg	0.433																																					p.T351A		Atlas-SNP	.											.	CADM1	74	.	0			c.A1051G						.						50.0	55.0	53.0					11																	115080321		2201	4296	6497	SO:0001583	missense	23705	exon8			TGGTGGTGGTGGT	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1051A>G	chr11.hg19:g.115080321T>C	ENSP00000395359:p.Thr351Ala	53.0	0.0		56.0	33.0	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	hg19	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	T	5.061	0.196983	0.09599	.	.	ENSG00000182985	ENST00000452722;ENST00000537058;ENST00000331581;ENST00000541325	T;T;T	0.63744	-0.04;0.19;-0.06	4.29	4.29	0.51040	.	0.703928	0.13804	N	0.361575	T	0.43656	0.1257	N	0.19112	0.55	0.26262	N	0.978567	B	0.22276	0.067	B	0.15052	0.012	T	0.14839	-1.0458	10	0.09084	T	0.74	.	12.5623	0.56288	0.0:0.0:0.0:1.0	.	351	Q9BY67	CADM1_HUMAN	A	351;351;351;25	ENSP00000395359:T351A;ENSP00000439817:T351A;ENSP00000329797:T351A	ENSP00000329797:T351A	T	-	1	0	CADM1	114585531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.814000	0.55643	1.677000	0.50941	0.533000	0.62120	ACC	.	.		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
SIDT2	51092	hgsc.bcm.edu	37	11	117054562	117054562	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:117054562G>A	ENST00000324225.4	+	7	1301	c.770G>A	c.(769-771)gGg>gAg	p.G257E	SIDT2_ENST00000431081.2_Missense_Mutation_p.G257E|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	257					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAAGCCTGCGGGGGCTCCCTG	0.532																																					p.G257E		Atlas-SNP	.											.	SIDT2	82	.	0			c.G770A						.						97.0	92.0	94.0					11																	117054562		2201	4296	6497	SO:0001583	missense	51092	exon7			CCTGCGGGGGCTC	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.770G>A	chr11.hg19:g.117054562G>A	ENSP00000314023:p.Gly257Glu	81.0	0.0		44.0	21.0	NM_001040455	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	hg19	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204567	0.95033	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;0.999	T	0.52624	-0.8551	10	0.52906	T	0.07	-20.2438	19.0823	0.93187	0.0:0.0:1.0:0.0	.	257;257;257;257	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	E	257;257;257;107	ENSP00000314023:G257E;ENSP00000278951:G257E;ENSP00000399635:G257E;ENSP00000436983:G107E	ENSP00000278951:G257E	G	+	2	0	SIDT2	116559772	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.016000	0.93645	2.840000	0.97914	0.596000	0.82720	GGG	.	.		0.532	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996	
TMPRSS13	84000	hgsc.bcm.edu	37	11	117789167	117789167	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:117789167A>G	ENST00000430170.2	-	2	495	c.408T>C	c.(406-408)ccT>ccC	p.P136P	TMPRSS13_ENST00000526090.1_Silent_p.P136P|TMPRSS13_ENST00000528626.1_Silent_p.P136P|TMPRSS13_ENST00000524993.1_Silent_p.P136P|TMPRSS13_ENST00000445164.2_Silent_p.P136P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	136						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTGACCTGGCAGGAGATGATC	0.612																																					p.P136P		Atlas-SNP	.											.	TMPRSS13	75	.	0			c.T408C						.						68.0	75.0	73.0					11																	117789167		2074	4208	6282	SO:0001819	synonymous_variant	84000	exon2			CCTGGCAGGAGAT	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.408T>C	chr11.hg19:g.117789167A>G		59.0	0.0		65.0	25.0	NM_001206790	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	hg19	CCDS58185.1																																																																																			.	.		0.612	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
ARHGEF12	23365	hgsc.bcm.edu	37	11	120349051	120349051	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:120349051A>T	ENST00000397843.2	+	37	3885	c.3719A>T	c.(3718-3720)cAc>cTc	p.H1240L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.H1221L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.H1137L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1240					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAGATTCACACCTGCCTGTC	0.393			T	MLL	AML																																p.H1240L		Atlas-SNP	.		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	ARHGEF12	133	.	0			c.A3719T						.						79.0	74.0	76.0					11																	120349051		1927	4134	6061	SO:0001583	missense	23365	exon37			ATTCACACCTGCC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3719A>T	chr11.hg19:g.120349051A>T	ENSP00000380942:p.His1240Leu	73.0	0.0		60.0	25.0	NM_015313	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281597	0.40394	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.64618	-0.01;-0.11;-0.0	5.26	5.26	0.73747	.	0.000000	0.51477	D	0.000086	T	0.44159	0.1280	L	0.27053	0.805	0.27153	N	0.961351	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23655	-1.0182	10	0.10902	T	0.67	-8.7448	9.9318	0.41528	0.8152:0.1848:0.0:0.0	.	1221;1240	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	L	1240;1221;1137	ENSP00000380942:H1240L;ENSP00000349056:H1221L;ENSP00000432984:H1137L	ENSP00000349056:H1221L	H	+	2	0	ARHGEF12	119854261	0.002000	0.14202	0.995000	0.50966	0.616000	0.37450	1.618000	0.36954	2.108000	0.64289	0.533000	0.62120	CAC	.	.		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
OR4D5	219875	hgsc.bcm.edu	37	11	123811185	123811185	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:123811185A>T	ENST00000307033.2	+	1	936	c.862A>T	c.(862-864)Acc>Tcc	p.T288S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCCATCTATACCCTGAGAAA	0.498																																					p.T288S		Atlas-SNP	.											.	OR4D5	94	.	0			c.A862T						.						106.0	101.0	103.0					11																	123811185		2202	4299	6501	SO:0001583	missense	219875	exon1			ATCTATACCCTGA	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.862A>T	chr11.hg19:g.123811185A>T	ENSP00000305970:p.Thr288Ser	94.0	0.0		86.0	45.0	NM_001001965	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	hg19	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815986	0.70912	.	.	ENSG00000171014	ENST00000307033	T	0.36157	1.27	5.29	5.29	0.74685	.	0.000000	0.47093	D	0.000254	T	0.24431	0.0592	N	0.03209	-0.39	0.31739	N	0.636018	P	0.42961	0.795	P	0.45577	0.486	T	0.28902	-1.0029	10	0.48119	T	0.1	-15.5855	14.8805	0.70528	1.0:0.0:0.0:0.0	.	288	Q8NGN0	OR4D5_HUMAN	S	288	ENSP00000305970:T288S	ENSP00000305970:T288S	T	+	1	0	OR4D5	123316395	0.025000	0.19082	1.000000	0.80357	0.988000	0.76386	0.960000	0.29253	1.994000	0.58287	0.528000	0.53228	ACC	.	.		0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
OR8B8	26493	hgsc.bcm.edu	37	11	124310403	124310403	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:124310403A>T	ENST00000328064.2	-	1	651	c.579T>A	c.(577-579)taT>taA	p.Y193*		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	193					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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTCATTCACATAGGTGCTGG	0.478																																					p.Y193X		Atlas-SNP	.											.	OR8B8	76	.	0			c.T579A						.						173.0	139.0	150.0					11																	124310403		2201	4299	6500	SO:0001587	stop_gained	26493	exon1			ATTCACATAGGTG	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.579T>A	chr11.hg19:g.124310403A>T	ENSP00000330280:p.Tyr193*	179.0	0.0		161.0	72.0	NM_012378	A1L446|Q96RC8	Nonsense_Mutation	SNP	ENST00000328064.2	hg19	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687347	0.29962	.	.	ENSG00000197125	ENST00000328064	.	.	.	3.67	-1.27	0.09347	.	0.889113	0.09433	N	0.802847	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9851	0.41837	0.4873:0.0:0.5127:0.0	.	.	.	.	X	193	.	ENSP00000330280:Y193X	Y	-	3	2	OR8B8	123815613	0.000000	0.05858	0.008000	0.14137	0.199000	0.23934	-1.613000	0.02059	-0.257000	0.09459	0.455000	0.32223	TAT	.	.		0.478	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
STT3A	3703	hgsc.bcm.edu	37	11	125489978	125489978	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:125489978A>G	ENST00000529196.1	+	18	2242	c.2036A>G	c.(2035-2037)gAg>gGg	p.E679G	STT3A_ENST00000531491.1_Missense_Mutation_p.E587G|STT3A_ENST00000392708.4_Missense_Mutation_p.E679G|STT3A_ENST00000526364.1_3'UTR			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	679					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GATGTCCTGGAGGAAGCATAT	0.428																																					p.E679G		Atlas-SNP	.											.	STT3A	52	.	0			c.A2036G						.						106.0	100.0	102.0					11																	125489978		2201	4299	6500	SO:0001583	missense	3703	exon17			TCCTGGAGGAAGC	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.2036A>G	chr11.hg19:g.125489978A>G	ENSP00000436962:p.Glu679Gly	98.0	0.0		84.0	32.0	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	hg19	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.046668	0.93740	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	D;D;D	0.94280	-3.39;-3.39;-3.39	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.93763	3.455	0.80722	D	1	P;P	0.48998	0.717;0.918	B;P	0.45660	0.269;0.489	D	0.96582	0.9431	10	0.87932	D	0	-28.0533	15.8284	0.78733	1.0:0.0:0.0:0.0	.	587;679	B4DJ24;P46977	.;STT3A_HUMAN	G	679;679;587	ENSP00000376472:E679G;ENSP00000436962:E679G;ENSP00000432820:E587G	ENSP00000376472:E679G	E	+	2	0	STT3A	124995188	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.257000	0.95545	2.209000	0.71365	0.533000	0.62120	GAG	.	.		0.428	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
ADAMTS8	11095	hgsc.bcm.edu	37	11	130278692	130278692	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:130278692T>A	ENST00000257359.6	-	7	2600	c.1894A>T	c.(1894-1896)Agg>Tgg	p.R632W		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	632	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AACTCGCTCCTCCCCCGGGCT	0.627																																					p.R632W		Atlas-SNP	.											.	ADAMTS8	172	.	0			c.A1894T						.						90.0	92.0	92.0					11																	130278692		1910	4124	6034	SO:0001583	missense	11095	exon7			CGCTCCTCCCCCG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1894A>T	chr11.hg19:g.130278692T>A	ENSP00000257359:p.Arg632Trp	74.0	0.0		49.0	20.0	NM_007037	Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	hg19	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380740	0.82792	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.59906	0.23	5.76	3.32	0.38043	.	0.038661	0.85682	D	0.000000	T	0.66761	0.2822	M	0.71581	2.175	0.38252	D	0.941647	D;D	0.64830	0.994;0.983	P;P	0.61070	0.883;0.874	T	0.67719	-0.5598	10	0.38643	T	0.18	.	7.6952	0.28590	0.0:0.0698:0.2792:0.651	.	632;113	Q9UP79;B3KVX9	ATS8_HUMAN;.	W	30;632;661	ENSP00000257359:R632W	ENSP00000257359:R632W	R	-	1	2	ADAMTS8	129783902	0.992000	0.36948	0.963000	0.40424	0.989000	0.77384	3.976000	0.56867	1.015000	0.39444	0.533000	0.62120	AGG	.	.		0.627	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037	
SNX19	399979	hgsc.bcm.edu	37	11	130748331	130748331	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:130748331C>A	ENST00000265909.4	-	11	3534	c.2965G>T	c.(2965-2967)Ggt>Tgt	p.G989C	SNX19_ENST00000426933.2_Missense_Mutation_p.G157C|SNX19_ENST00000530356.1_Missense_Mutation_p.G369C|SNX19_ENST00000545537.1_Missense_Mutation_p.G229C|SNX19_ENST00000528555.1_Missense_Mutation_p.G369C|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.G432C|SNX19_ENST00000534726.1_Missense_Mutation_p.G229C	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	989					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GAGGAGACACCCATCCTCTTA	0.542																																					p.G989C		Atlas-SNP	.											.	SNX19	84	.	0			c.G2965T						.						125.0	109.0	115.0					11																	130748331		2201	4297	6498	SO:0001583	missense	399979	exon11			AGACACCCATCCT	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2965G>T	chr11.hg19:g.130748331C>A	ENSP00000265909:p.Gly989Cys	116.0	0.0		81.0	40.0	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	hg19	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420386	0.42918	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.38887	2.59;1.15;1.15;1.11;1.7;1.7;2.01	5.7	3.85	0.44370	.	0.313086	0.28338	N	0.015702	T	0.49253	0.1546	L	0.54323	1.7	0.09310	N	1	D;D	0.58620	0.982;0.983	P;P	0.54026	0.74;0.671	T	0.42155	-0.9468	10	0.72032	D	0.01	-1.1043	10.6571	0.45682	0.0:0.8524:0.0:0.1476	.	432;989	F5H5D1;Q92543	.;SNX19_HUMAN	C	989;229;229;157;369;369;432	ENSP00000265909:G989C;ENSP00000433699:G229C;ENSP00000437982:G229C;ENSP00000413345:G157C;ENSP00000435122:G369C;ENSP00000432307:G369C;ENSP00000443480:G432C	ENSP00000265909:G989C	G	-	1	0	SNX19	130253541	0.000000	0.05858	0.609000	0.28983	0.210000	0.24377	0.310000	0.19356	0.769000	0.33313	-0.140000	0.14226	GGT	.	.		0.542	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
OPCML	4978	hgsc.bcm.edu	37	11	133402212	133402212	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:133402212T>C	ENST00000524381.1	-	1	202	c.8A>G	c.(7-9)cAt>cGt	p.H3R	OPCML_ENST00000529038.1_5'UTR	NM_001012393.1	NP_001012393.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	9					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTAGGCAGGATGGTACATCTC	0.587																																					p.H3R		Atlas-SNP	.											.	OPCML	166	.	0			c.A8G						.						105.0	75.0	85.0					11																	133402212		2201	4297	6498	SO:0001583	missense	4978	exon1			GCAGGATGGTACA	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000524381.1:c.8A>G	chr11.hg19:g.133402212T>C	ENSP00000434750:p.His3Arg	63.0	0.0		47.0	19.0	NM_001012393	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000524381.1	hg19	CCDS31722.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476068	0.26511	.	.	ENSG00000183715	ENST00000524381;ENST00000416724	T	0.56444	0.46	5.19	5.19	0.71726	.	.	.	.	.	T	0.34803	0.0910	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.14952	-1.0454	9	0.18710	T	0.47	.	13.6316	0.62198	0.0:0.0:0.0:1.0	.	3	Q7Z3W6	.	R	3	ENSP00000434750:H3R	ENSP00000390643:H3R	H	-	2	0	OPCML	132907422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.722000	0.61958	1.976000	0.57569	0.528000	0.53228	CAT	.	.		0.587	OPCML-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393269.1	NM_001012393	
GLB1L3	112937	hgsc.bcm.edu	37	11	134177095	134177095	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr11:134177095T>C	ENST00000431683.2	+	10	954	c.954T>C	c.(952-954)gaT>gaC	p.D318D		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	318					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ATGTTAAAGATGCAAAGGGTG	0.438																																					p.D318D		Atlas-SNP	.											.	GLB1L3	102	.	0			c.T954C						.						139.0	134.0	136.0					11																	134177095		1926	4137	6063	SO:0001819	synonymous_variant	112937	exon10			TAAAGATGCAAAG		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.954T>C	chr11.hg19:g.134177095T>C		61.0	0.0		58.0	22.0	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	hg19	CCDS44780.1																																																																																			.	.		0.438	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
B4GALNT3	283358	hgsc.bcm.edu	37	12	660161	660161	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:660161T>C	ENST00000266383.5	+	11	1084	c.1071T>C	c.(1069-1071)gaT>gaC	p.D357D		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	357					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCTGGTGGATGGGCTTCCTC	0.602																																					p.D357D		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.T1071C						.						188.0	160.0	169.0					12																	660161		2203	4300	6503	SO:0001819	synonymous_variant	283358	exon11			GGTGGATGGGCTT	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1071T>C	chr12.hg19:g.660161T>C		114.0	0.0		65.0	29.0	NM_173593	Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	hg19	CCDS8504.1																																																																																			.	.		0.602	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
B4GALNT3	283358	hgsc.bcm.edu	37	12	662644	662644	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:662644A>G	ENST00000266383.5	+	14	1568	c.1555A>G	c.(1555-1557)Agc>Ggc	p.S519G		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	519					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCAAAAACCCAGCCCTGAGCC	0.632																																					p.S519G		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.A1555G						.						43.0	49.0	47.0					12																	662644		2203	4300	6503	SO:0001583	missense	283358	exon14			AAACCCAGCCCTG	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1555A>G	chr12.hg19:g.662644A>G	ENSP00000266383:p.Ser519Gly	78.0	0.0		51.0	23.0	NM_173593	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	9.299	1.052660	0.19907	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.30981	3.52;1.51	5.76	1.98	0.26296	.	0.607121	0.20062	N	0.100064	T	0.18923	0.0454	L	0.40543	1.245	0.09310	N	1	B;B	0.23442	0.085;0.049	B;B	0.19666	0.026;0.016	T	0.19778	-1.0295	10	0.23891	T	0.37	-6.1084	3.1269	0.06411	0.638:0.146:0.0764:0.1396	.	422;519	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	G	519;422	ENSP00000266383:S519G;ENSP00000322953:S422G	ENSP00000266383:S519G	S	+	1	0	B4GALNT3	532905	0.009000	0.17119	0.022000	0.16811	0.005000	0.04900	0.853000	0.27777	0.085000	0.17107	-0.333000	0.08304	AGC	.	.		0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
CACNA2D4	93589	hgsc.bcm.edu	37	12	1987485	1987485	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:1987485G>C	ENST00000382722.5	-	16	2077	c.1715C>G	c.(1714-1716)cCc>cGc	p.P572R	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.P508R|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P457R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P508R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P572R	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	572	Cache.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCTACCAGGGGCCGGAGGTC	0.512																																					p.P572R	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.C1715G						.						57.0	62.0	61.0					12																	1987485		1959	4152	6111	SO:0001583	missense	93589	exon16			ACCAGGGGCCGGA	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1715C>G	chr12.hg19:g.1987485G>C	ENSP00000372169:p.Pro572Arg	82.0	0.0		61.0	31.0	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591998	0.86953	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.12255	2.7	5.6	5.6	0.85130	Cache (1);	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.968;1.0	T	0.02901	-1.1096	10	0.87932	D	0	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	572;572	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	R	508;572;572	ENSP00000372169:P572R	ENSP00000280663:P572R	P	-	2	0	CACNA2D4	1857746	1.000000	0.71417	0.967000	0.41034	0.743000	0.42351	9.869000	0.99810	2.630000	0.89119	0.655000	0.94253	CCC	.	.		0.512	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
CACNA2D4	93589	hgsc.bcm.edu	37	12	2027475	2027475	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:2027475C>A	ENST00000382722.5	-	1	527	c.165G>T	c.(163-165)tgG>tgT	p.W55C	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.W55C|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.W55C|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.W55C|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	55					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGCAGCAGCCACAGGAGGG	0.622																																					p.W55C	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.G165T						.						20.0	23.0	22.0					12																	2027475		1897	4125	6022	SO:0001583	missense	93589	exon1			CAGCAGCCACAGG	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.165G>T	chr12.hg19:g.2027475C>A	ENSP00000372169:p.Trp55Cys	71.0	0.0		47.0	20.0	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821185	0.16678	.	.	ENSG00000151062	ENST00000280663;ENST00000382722	T	0.06768	3.26	5.27	-1.79	0.07932	.	0.319686	0.26203	N	0.025728	T	0.04452	0.0122	N	0.16478	0.41	0.33192	D	0.55105	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.22138	-1.0225	10	0.37606	T	0.19	.	9.1276	0.36826	0.4037:0.4548:0.1415:0.0	.	55;55	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	C	55	ENSP00000372169:W55C	ENSP00000280663:W55C	W	-	3	0	CACNA2D4	1897736	0.535000	0.26370	0.996000	0.52242	0.313000	0.28021	-0.126000	0.10563	-0.169000	0.10834	0.555000	0.69702	TGG	.	.		0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
FKBP4	2288	hgsc.bcm.edu	37	12	2909266	2909266	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:2909266A>G	ENST00000001008.4	+	7	1011	c.824A>G	c.(823-825)gAg>gGg	p.E275G	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	275	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			ATAGTGAAAGAGCGGGGCACT	0.522																																					p.E275G		Atlas-SNP	.											.	FKBP4	29	.	0			c.A824G						.						110.0	107.0	108.0					12																	2909266		2203	4300	6503	SO:0001583	missense	2288	exon7			TGAAAGAGCGGGG	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.824A>G	chr12.hg19:g.2909266A>G	ENSP00000001008:p.Glu275Gly	49.0	0.0		50.0	22.0	NM_002014	D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	hg19	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902327	0.92035	.	.	ENSG00000004478	ENST00000001008	T	0.74737	-0.87	5.38	5.38	0.77491	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.095878	0.64402	D	0.000001	T	0.81545	0.4845	M	0.78285	2.405	0.80722	D	1	D	0.56287	0.975	P	0.51945	0.685	D	0.84661	0.0706	10	0.87932	D	0	-36.2317	14.2345	0.65916	1.0:0.0:0.0:0.0	.	275	Q02790	FKBP4_HUMAN	G	275	ENSP00000001008:E275G	ENSP00000001008:E275G	E	+	2	0	FKBP4	2779527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.875000	0.92372	2.046000	0.60703	0.459000	0.35465	GAG	.	.		0.522	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1		
KCNA1	3736	hgsc.bcm.edu	37	12	5021211	5021211	+	Missense_Mutation	SNP	A	A	C	rs146948558		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:5021211A>C	ENST00000382545.3	+	2	1774	c.667A>C	c.(667-669)Atc>Ctc	p.I223L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	223					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCCCTTCTTCATCGTGGAAAC	0.527																																					p.I223L		Atlas-SNP	.											.	KCNA1	112	.	0			c.A667C						.						114.0	86.0	96.0					12																	5021211		2203	4300	6503	SO:0001583	missense	3736	exon2			TTCTTCATCGTGG	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.667A>C	chr12.hg19:g.5021211A>C	ENSP00000371985:p.Ile223Leu	118.0	0.0		77.0	43.0	NM_000217	A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	A	7.147	0.582931	0.13749	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98701	-5.08	4.86	4.86	0.63082	Ion transport (1);	0.122857	0.52532	D	0.000067	D	0.94525	0.8237	N	0.21583	0.68	0.44098	D	0.996869	B	0.02656	0.0	B	0.06405	0.002	D	0.89962	0.4087	10	0.18276	T	0.48	.	5.6778	0.17759	0.8151:0.0:0.1849:0.0	.	223	Q09470	KCNA1_HUMAN	L	223	ENSP00000371985:I223L	ENSP00000228858:I223L	I	+	1	0	KCNA1	4891472	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.883000	0.48554	2.162000	0.67917	0.533000	0.62120	ATC	.	A|1.000;G|0.000		0.527	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
KCNA5	3741	hgsc.bcm.edu	37	12	5154056	5154056	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:5154056C>T	ENST00000252321.3	+	1	972	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	248					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGCTCTGGGTCCGCGCGGGCC	0.577																																					p.S248F		Atlas-SNP	.											.	KCNA5	138	.	0			c.C743T						.						103.0	113.0	110.0					12																	5154056		2203	4300	6503	SO:0001583	missense	3741	exon1			CTGGGTCCGCGCG	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.743C>T	chr12.hg19:g.5154056C>T	ENSP00000252321:p.Ser248Phe	23.0	0.0		38.0	19.0	NM_002234	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	hg19	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964473	0.53507	.	.	ENSG00000130037	ENST00000252321	T	0.69040	-0.37	4.77	4.77	0.60923	.	0.077875	0.53938	U	0.000058	T	0.62648	0.2445	L	0.33245	0.995	0.51482	D	0.999921	P	0.35684	0.515	B	0.40636	0.335	T	0.68176	-0.5478	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	248	P22460	KCNA5_HUMAN	F	248	ENSP00000252321:S248F	ENSP00000252321:S248F	S	+	2	0	KCNA5	5024317	0.826000	0.29277	0.157000	0.22605	0.980000	0.70556	7.584000	0.82572	2.478000	0.83669	0.561000	0.74099	TCC	.	.		0.577	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
VWF	7450	hgsc.bcm.edu	37	12	6140731	6140731	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:6140731C>T	ENST00000261405.5	-	21	2953	c.2699G>A	c.(2698-2700)aGt>aAt	p.S900N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	900	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCAGGGTTACTGCCGCAGTA	0.552																																					p.S900N		Atlas-SNP	.											.	VWF	338	.	0			c.G2699A						.						116.0	109.0	111.0					12																	6140731		2203	4300	6503	SO:0001583	missense	7450	exon21			GGGTTACTGCCGC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2699G>A	chr12.hg19:g.6140731C>T	ENSP00000261405:p.Ser900Asn	84.0	0.0		78.0	43.0	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	6.472	0.455247	0.12283	.	.	ENSG00000110799	ENST00000261405	T	0.60548	0.18	5.58	3.74	0.42951	von Willebrand factor, type D domain (3);	1.072060	0.07297	N	0.873400	T	0.36799	0.0980	N	0.05177	-0.1	0.38996	D	0.95924	B	0.09022	0.002	B	0.10450	0.005	T	0.08310	-1.0728	10	0.16420	T	0.52	.	10.8663	0.46858	0.0:0.8416:0.0:0.1584	.	900	P04275	VWF_HUMAN	N	900	ENSP00000261405:S900N	ENSP00000261405:S900N	S	-	2	0	VWF	6010992	0.000000	0.05858	0.005000	0.12908	0.075000	0.17131	0.536000	0.23129	1.354000	0.45846	0.650000	0.86243	AGT	.	.		0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	hgsc.bcm.edu	37	12	6143964	6143964	+	Missense_Mutation	SNP	T	T	C	rs371017187		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:6143964T>C	ENST00000261405.5	-	20	2829	c.2575A>G	c.(2575-2577)Aca>Gca	p.T859A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	859					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACATGGTCTGTGCAGTTCCAC	0.592																																					p.T859A		Atlas-SNP	.											.	VWF	338	.	0			c.A2575G						.	T	ALA/THR	1,4405	2.1+/-5.4	0,1,2202	160.0	125.0	137.0		2575	4.4	1.0	12		137	0,8600		0,0,4300	no	missense	VWF	NM_000552.3	58	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	859/2814	6143964	1,13005	2203	4300	6503	SO:0001583	missense	7450	exon20			GGTCTGTGCAGTT		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2575A>G	chr12.hg19:g.6143964T>C	ENSP00000261405:p.Thr859Ala	116.0	0.0		79.0	40.0	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	hg19	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146902	0.77888	2.27E-4	0.0	ENSG00000110799	ENST00000261405	T	0.66638	-0.22	5.56	4.38	0.52667	von Willebrand factor, type C (1);von Willebrand factor, type D domain (1);	0.000000	0.39615	N	0.001315	T	0.66771	0.2823	M	0.86178	2.8	0.80722	D	1	P	0.48294	0.908	B	0.38616	0.277	T	0.71133	-0.4681	10	0.87932	D	0	.	9.9408	0.41578	0.1523:0.0:0.0:0.8476	.	859	P04275	VWF_HUMAN	A	859	ENSP00000261405:T859A	ENSP00000261405:T859A	T	-	1	0	VWF	6014225	1.000000	0.71417	0.964000	0.40570	0.950000	0.60333	2.456000	0.44997	0.890000	0.36211	0.482000	0.46254	ACA	.	.		0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
NANOGNB	360030	hgsc.bcm.edu	37	12	7923072	7923072	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:7923072A>G	ENST00000382119.1	+	3	543	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_001145465.1	NP_001138937.1	Q7Z5D8	NANGN_HUMAN	NANOG neighbor homeobox	158						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)	1						AAGAAATATAATAAAGAAATG	0.308																																					p.N158S		Atlas-SNP	.											.	NANOGNB	6	.	0			c.A473G						.						49.0	39.0	42.0					12																	7923072		692	1588	2280	SO:0001583	missense	360030	exon3			AATATAATAAAGA		CCDS44826.1	12p13.31	2011-06-02	2010-07-08		ENSG00000205857	ENSG00000205857			24958	protein-coding gene	gene with protein product	"""homeobox C14"""					12477932	Standard	NM_001145465		Approved		uc009zfx.2	Q7Z5D8	OTTHUMG00000165107	ENST00000382119.1:c.473A>G	chr12.hg19:g.7923072A>G	ENSP00000371553:p.Asn158Ser	75.0	0.0		71.0	33.0	NM_001145465		Missense_Mutation	SNP	ENST00000382119.1	hg19	CCDS44826.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519212	0.44866	.	.	ENSG00000205857	ENST00000382119	T	0.31247	1.5	3.07	0.641	0.17759	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	2.120180	0.03534	U	0.222875	T	0.25121	0.0610	L	0.44542	1.39	0.18873	N	0.999988	B	0.29909	0.261	B	0.27262	0.078	T	0.22871	-1.0204	10	0.54805	T	0.06	14.0586	2.342	0.04262	0.619:0.0:0.1381:0.2429	.	158	Q7Z5D8	NANGN_HUMAN	S	158	ENSP00000371553:N158S	ENSP00000371553:N158S	N	+	2	0	NANOGNB	7814339	0.808000	0.29022	0.191000	0.23289	0.275000	0.26752	1.875000	0.39578	0.121000	0.18284	0.533000	0.62120	AAT	.	.		0.308	NANOGNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381846.1		
CLEC2B	9976	hgsc.bcm.edu	37	12	10005916	10005916	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:10005916T>A	ENST00000228438.2	-	5	1366	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	CLEC2B_ENST00000538152.1_Missense_Mutation_p.R76W	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						ATTCTTTTCCTGCAAATCCAT	0.363																																					p.R145W		Atlas-SNP	.											.	CLEC2B	19	.	0			c.A433T						.						171.0	144.0	153.0					12																	10005916		2203	4300	6503	SO:0001583	missense	9976	exon5			TTTTCCTGCAAAT	X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"""C-type lectin domain containing"""	2053	protein-coding gene	gene with protein product		603242	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"""	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.433A>T	chr12.hg19:g.10005916T>A	ENSP00000228438:p.Arg145Trp	51.0	0.0		59.0	29.0	NM_005127	B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	ENST00000228438.2	hg19	CCDS8605.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555914	0.27827	.	.	ENSG00000110852	ENST00000228438;ENST00000538152	T;T	0.17528	2.27;2.27	2.94	1.75	0.24633	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.425811	0.18615	N	0.136025	T	0.29556	0.0737	L	0.53249	1.67	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.03483	-1.1032	10	0.72032	D	0.01	.	6.171	0.20416	0.0:0.0:0.2616:0.7384	.	145	Q92478	CLC2B_HUMAN	W	145;76	ENSP00000228438:R145W;ENSP00000437946:R76W	ENSP00000228438:R145W	R	-	1	2	CLEC2B	9897183	0.204000	0.23447	0.203000	0.23512	0.129000	0.20672	0.250000	0.18235	0.520000	0.28426	0.528000	0.53228	AGG	.	.		0.363	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399881.1	NM_005127	
TAS2R7	50837	hgsc.bcm.edu	37	12	10954328	10954328	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:10954328T>C	ENST00000240687.2	-	1	898	c.842A>G	c.(841-843)cAt>cGt	p.H281R		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	281					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GATAAATGAATGACTTGAGGG	0.368																																					p.H281R		Atlas-SNP	.											.	TAS2R7	35	.	0			c.A842G						.						99.0	99.0	99.0					12																	10954328		2203	4300	6503	SO:0001583	missense	50837	exon1			AATGAATGACTTG	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.842A>G	chr12.hg19:g.10954328T>C	ENSP00000240687:p.His281Arg	133.0	0.0		104.0	43.0	NM_023919	Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	hg19	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321970	0.41096	.	.	ENSG00000121377	ENST00000240687	T	0.03982	3.74	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.173105	0.36482	N	0.002570	T	0.31263	0.0791	H	0.95079	3.62	0.36709	D	0.880533	D	0.89917	1.0	D	0.97110	1.0	T	0.54702	-0.8254	10	0.87932	D	0	.	13.0838	0.59129	0.0:0.0:0.0:1.0	.	281	Q9NYW3	TA2R7_HUMAN	R	281	ENSP00000240687:H281R	ENSP00000240687:H281R	H	-	2	0	TAS2R7	10845595	1.000000	0.71417	0.666000	0.29783	0.162000	0.22319	4.708000	0.61859	2.181000	0.69327	0.524000	0.50904	CAT	.	.		0.368	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1		
GPRC5A	9052	hgsc.bcm.edu	37	12	13061653	13061653	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:13061653T>C	ENST00000014914.5	+	2	1360	c.470T>C	c.(469-471)aTg>aCg	p.M157T	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	157					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTCCTGACCATGAATAGGACC	0.522																																					p.M157T		Atlas-SNP	.											.	GPRC5A	38	.	0			c.T470C						.						218.0	203.0	208.0					12																	13061653		2203	4300	6503	SO:0001583	missense	9052	exon2			TGACCATGAATAG	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.470T>C	chr12.hg19:g.13061653T>C	ENSP00000014914:p.Met157Thr	81.0	0.0		64.0	34.0	NM_003979	B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	hg19	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641859	0.67244	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.87103	-2.21;-2.21	5.63	5.63	0.86233	GPCR, family 3, C-terminal (1);	0.063209	0.64402	D	0.000003	D	0.89667	0.6781	M	0.64997	1.995	0.50467	D	0.999877	P;D	0.57257	0.912;0.979	P;P	0.54759	0.629;0.76	D	0.87615	0.2506	10	0.22706	T	0.39	-20.0187	15.8307	0.78749	0.0:0.0:0.0:1.0	.	157;157	Q8NFJ5;A8K556	RAI3_HUMAN;.	T	157	ENSP00000014914:M157T;ENSP00000441627:M157T	ENSP00000014914:M157T	M	+	2	0	GPRC5A	12952920	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.742000	0.38248	2.148000	0.66965	0.459000	0.35465	ATG	.	.		0.522	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1		
HEBP1	50865	hgsc.bcm.edu	37	12	13140219	13140219	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:13140219T>A	ENST00000014930.4	-	3	423	c.265A>T	c.(265-267)Aat>Tat	p.N89Y	HEBP1_ENST00000536942.1_Missense_Mutation_p.N89Y|RP11-392P7.6_ENST00000499948.2_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	89					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CCATCTTCATTGGGGAACACA	0.468																																					p.N89Y		Atlas-SNP	.											.	HEBP1	16	.	0			c.A265T						.						82.0	82.0	82.0					12																	13140219		2203	4300	6503	SO:0001583	missense	50865	exon3			CTTCATTGGGGAA	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.265A>T	chr12.hg19:g.13140219T>A	ENSP00000014930:p.Asn89Tyr	127.0	0.0		126.0	53.0	NM_015987	A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	hg19	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370368	0.42003	.	.	ENSG00000013583	ENST00000014930;ENST00000535636;ENST00000536942	T;T;T	0.22336	1.96;1.96;1.96	5.66	-4.11	0.03928	Regulatory factor, effector, bacterial (1);	1.181070	0.05676	N	0.589520	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	B	0.24651	0.108	B	0.25759	0.063	T	0.44298	-0.9337	10	0.56958	D	0.05	-21.5939	10.4353	0.44433	0.0:0.625:0.1396:0.2354	.	89	Q9NRV9	HEBP1_HUMAN	Y	89;18;89	ENSP00000014930:N89Y;ENSP00000442020:N18Y;ENSP00000441678:N89Y	ENSP00000014930:N89Y	N	-	1	0	HEBP1	13031486	0.002000	0.14202	0.002000	0.10522	0.993000	0.82548	0.002000	0.13061	-0.315000	0.08703	0.533000	0.62120	AAT	.	.		0.468	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1		
ART4	420	hgsc.bcm.edu	37	12	14993397	14993397	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:14993397T>C	ENST00000228936.4	-	2	1216	c.835A>G	c.(835-837)Aac>Gac	p.N279D	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	279					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCTGACAGTTATATGTGCTC	0.403																																					p.N279D		Atlas-SNP	.											.	ART4	27	.	0			c.A835G						.						60.0	59.0	59.0					12																	14993397		2203	4300	6503	SO:0001583	missense	420	exon2			GACAGTTATATGT	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.835A>G	chr12.hg19:g.14993397T>C	ENSP00000228936:p.Asn279Asp	57.0	0.0		49.0	21.0	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	hg19	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505731	0.64410	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.10192	2.9;2.9	4.07	4.07	0.47477	.	0.279897	0.31648	N	0.007284	T	0.15652	0.0377	L	0.27053	0.805	0.39380	D	0.96624	D;D	0.58620	0.983;0.983	P;P	0.57324	0.818;0.818	T	0.02307	-1.1179	10	0.72032	D	0.01	-5.3207	11.6718	0.51406	0.0:0.0:0.0:1.0	.	279;279	A8K6J7;Q93070	.;NAR4_HUMAN	D	279;262	ENSP00000228936:N279D;ENSP00000405689:N262D	ENSP00000228936:N279D	N	-	1	0	ART4	14884664	0.999000	0.42202	0.909000	0.35828	0.586000	0.36452	3.627000	0.54252	2.077000	0.62373	0.533000	0.62120	AAC	.	.		0.403	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
C2CD5	9847	hgsc.bcm.edu	37	12	22606848	22606848	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:22606848C>T	ENST00000333957.4	-	24	3108	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	C2CD5_ENST00000396028.2_Silent_p.E993E|C2CD5_ENST00000545552.1_Silent_p.E1005E|C2CD5_ENST00000544930.1_Silent_p.E807E|C2CD5_ENST00000536386.1_Silent_p.E1004E|C2CD5_ENST00000542676.1_Silent_p.E1002E|C2CD5_ENST00000446597.1_Silent_p.E1002E	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	951					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TATTTGGATTCTCCATGAAGA	0.433																																					p.E951E		Atlas-SNP	.											KIAA0528_ENST00000544930,NS,carcinoma,0,2	.	.	.	0			c.G2853A						.						145.0	140.0	142.0					12																	22606848		2203	4300	6503	SO:0001819	synonymous_variant	9847	exon24			TGGATTCTCCATG	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2853G>A	chr12.hg19:g.22606848C>T		124.0	0.0		92.0	40.0	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	hg19	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688568	0.14973	.	.	ENSG00000111731	ENST00000539615	.	.	.	5.31	4.22	0.49857	.	.	.	.	.	T	0.69637	0.3133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68603	-0.5365	4	.	.	.	-17.2473	14.8287	0.70132	0.0:0.9187:0.0:0.0813	.	.	.	.	K	252	.	.	R	-	2	0	KIAA0528	22498115	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.539000	0.36104	2.475000	0.83589	0.561000	0.74099	AGA	.	.		0.433	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
KIAA1551	55196	hgsc.bcm.edu	37	12	32137547	32137547	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:32137547A>T	ENST00000312561.4	+	4	4072	c.3658A>T	c.(3658-3660)Aga>Tga	p.R1220*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1220																	ACAAGGAGAGAGAACTTCTGA	0.388																																					p.R1220X		Atlas-SNP	.											.	.	.	.	0			c.A3658T						.						83.0	84.0	84.0					12																	32137547		2203	4300	6503	SO:0001587	stop_gained	55196	exon4			GGAGAGAGAACTT	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3658A>T	chr12.hg19:g.32137547A>T	ENSP00000310338:p.Arg1220*	83.0	0.0		72.0	27.0	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	hg19	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	45	11.335947	0.99548	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.01	-2.31	0.06765	.	1.451400	0.04289	N	0.345144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1233	0.20165	0.4283:0.3232:0.2485:0.0	.	.	.	.	X	1220	.	.	R	+	1	2	C12orf35	32028814	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	0.404000	0.20999	-0.049000	0.13379	0.460000	0.39030	AGA	.	.		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
SYT10	341359	hgsc.bcm.edu	37	12	33532888	33532888	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:33532888T>C	ENST00000228567.3	-	6	1675	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	SYT10_ENST00000535526.1_Missense_Mutation_p.H279R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	460	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACCTCATTGTGTCCTACCCT	0.393																																					p.H460R		Atlas-SNP	.											.	SYT10	109	.	0			c.A1379G						.						211.0	170.0	184.0					12																	33532888		2203	4300	6503	SO:0001583	missense	341359	exon6			TCATTGTGTCCTA	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1379A>G	chr12.hg19:g.33532888T>C	ENSP00000228567:p.His460Arg	93.0	0.0		68.0	35.0	NM_198992	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	hg19	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770379	0.69992	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.70045	-0.45;-0.45	4.3	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.43747	U	0.000525	T	0.53610	0.1807	N	0.01209	-0.955	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.57388	-0.7820	10	0.12766	T	0.61	.	13.6694	0.62416	0.0:0.0:0.0:1.0	.	460	Q6XYQ8	SYT10_HUMAN	R	460;279	ENSP00000228567:H460R;ENSP00000438691:H279R	ENSP00000228567:H460R	H	-	2	0	SYT10	33424155	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.536000	0.82023	2.165000	0.68154	0.528000	0.53228	CAC	.	.		0.393	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
KIF21A	55605	hgsc.bcm.edu	37	12	39727052	39727052	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:39727052T>A	ENST00000361418.5	-	18	2464	c.2449A>T	c.(2449-2451)Aga>Tga	p.R817*	KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.R817*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.R804*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.R804*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	817					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTGGTTTCTTTTTTGGGCT	0.323																																					p.R817X		Atlas-SNP	.											.,2	KIF21A	238	.	0			c.A2449T						.						202.0	200.0	200.0					12																	39727052		2203	4300	6503	SO:0001587	stop_gained	55605	exon18			GGTTTCTTTTTTG	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2449A>T	chr12.hg19:g.39727052T>A	ENSP00000354878:p.Arg817*	111.0	0.0		126.0	41.0	NM_001173464	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	hg19	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.437653|4.437653	0.83885|0.83885	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	T|.	0.19938|.	2.11|.	5.36|5.36	4.19|4.19	0.49359|0.49359	.|.	.|0.000000	.|0.56097	.|D	.|0.000025	T|.	0.22513|.	0.0543|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31861|.	-0.9928|.	5|.	0.52906|0.02654	T|T	0.07|1	.|.	8.4439|8.4439	0.32830|0.32830	0.0:0.0702:0.1308:0.799|0.0:0.0702:0.1308:0.799	.|.	.|.	.|.	.|.	N|X	164|804;817;817;804;817	ENSP00000447765:K164N|.	ENSP00000449698:K74N|ENSP00000344501:R817X	K|R	-|-	3|1	2|2	KIF21A|KIF21A	38013319|38013319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.526000|3.526000	0.53509|0.53509	0.851000|0.851000	0.35264|0.35264	0.528000|0.528000	0.53228|0.53228	AAA|AGA	.	.		0.323	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	hgsc.bcm.edu	37	12	40010969	40010969	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:40010969A>T	ENST00000308666.3	-	2	1076	c.941T>A	c.(940-942)gTa>gAa	p.V314E		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	314	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTCATTTCTACCTATAGAGA	0.299																																					p.V314E		Atlas-SNP	.											.	ABCD2	127	.	0			c.T941A						.						92.0	90.0	91.0					12																	40010969		2203	4300	6503	SO:0001630	splice_region_variant	225	exon2			ATTTCTACCTATA	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.940-1T>A	chr12.hg19:g.40010969A>T		71.0	0.0		71.0	34.0	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	hg19	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207586	0.79240	.	.	ENSG00000173208	ENST00000308666	D	0.91407	-2.84	5.0	5.0	0.66597	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.062472	0.64402	D	0.000005	D	0.95217	0.8449	M	0.88377	2.95	0.58432	D	0.999997	P	0.45126	0.851	P	0.57776	0.827	D	0.95532	0.8604	9	.	.	.	-11.1284	15.0052	0.71507	1.0:0.0:0.0:0.0	.	314	Q9UBJ2	ABCD2_HUMAN	E	314	ENSP00000310688:V314E	.	V	-	2	0	ABCD2	38297236	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	8.832000	0.92079	1.999000	0.58509	0.533000	0.62120	GTA	.	.		0.299	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	Missense_Mutation
NELL2	4753	hgsc.bcm.edu	37	12	45105173	45105173	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:45105173T>A	ENST00000429094.2	-	11	1595	c.1091A>T	c.(1090-1092)cAg>cTg	p.Q364L	NELL2_ENST00000452445.2_Missense_Mutation_p.Q364L|NELL2_ENST00000395487.2_Missense_Mutation_p.Q363L|NELL2_ENST00000549027.1_Missense_Mutation_p.Q363L|NELL2_ENST00000437801.2_Missense_Mutation_p.Q414L|NELL2_ENST00000551601.1_Missense_Mutation_p.Q363L|NELL2_ENST00000333837.4_Missense_Mutation_p.Q387L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	364						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCATGGTCTGGTCCTGTTA	0.398																																					p.Q414L		Atlas-SNP	.											.	NELL2	286	.	0			c.A1241T						.						102.0	90.0	94.0					12																	45105173		2203	4300	6503	SO:0001583	missense	4753	exon12			ATGGTCTGGTCCT	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1091A>T	chr12.hg19:g.45105173T>A	ENSP00000390680:p.Gln364Leu	75.0	0.0		83.0	23.0	NM_001145107	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	hg19	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419091|1.419091	0.25552|0.25552	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684|ENST00000550313	T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.405452|.	0.28853|.	N|.	0.013922|.	T|.	0.53899|.	0.1825|.	L|L	0.36672|0.36672	1.1|1.1	0.34518|0.34518	D|D	0.707848|0.707848	B;B;B;B;B;B|.	0.20887|.	0.049;0.017;0.028;0.035;0.017;0.01|.	B;B;B;B;B;B|.	0.21360|.	0.026;0.028;0.034;0.011;0.009;0.017|.	T|.	0.62515|.	-0.6838|.	10|.	0.56958|.	D|.	0.05|.	-8.0739|-8.0739	16.1415|16.1415	0.81528|0.81528	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	387;414;363;364;364;363|.	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2|.	.;.;.;.;NELL2_HUMAN;.|.	L|X	363;364;363;364;363;387;414;363|108	ENSP00000378866:Q363L;ENSP00000390680:Q364L;ENSP00000449332:Q363L;ENSP00000394612:Q364L;ENSP00000447927:Q363L;ENSP00000327988:Q387L;ENSP00000416341:Q414L|.	ENSP00000327988:Q387L|.	Q|R	-|-	2|1	0|2	NELL2|NELL2	43391440|43391440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	4.195000|4.195000	0.58400|0.58400	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	CAG|AGA	.	.		0.398	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
SLC38A2	54407	hgsc.bcm.edu	37	12	46760941	46760941	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:46760941T>C	ENST00000256689.5	-	6	843	c.399A>G	c.(397-399)ttA>ttG	p.L133L	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	133					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTGTTCATATAATAAAGACC	0.318																																					p.L133L	Ovarian(9;448 492 8335 28722 40361)	Atlas-SNP	.											.	SLC38A2	36	.	0			c.A399G						.						87.0	92.0	91.0					12																	46760941		2203	4299	6502	SO:0001819	synonymous_variant	54407	exon6			TTCATATAATAAA	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.399A>G	chr12.hg19:g.46760941T>C		183.0	0.0		150.0	16.0	NM_018976	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	hg19	CCDS8749.1																																																																																			.	.		0.318	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1		
KMT2D	8085	hgsc.bcm.edu	37	12	49420043	49420043	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:49420043T>G	ENST00000301067.7	-	48	15705	c.15706A>C	c.(15706-15708)Aac>Cac	p.N5236H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5236	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCCGCCCGTTGTTCTCACCA	0.587																																					p.N5236H		Atlas-SNP	.											.	MLL2	1173	.	0			c.A15706C						.						63.0	67.0	65.0					12																	49420043		1969	4148	6117	SO:0001583	missense	8085	exon48			GCCCGTTGTTCTC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15706A>C	chr12.hg19:g.49420043T>G	ENSP00000301067:p.Asn5236His	98.0	0.0		94.0	45.0	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.608648	0.28623	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.11	2.74	0.32292	.	0.000000	0.39544	N	0.001337	T	0.75347	0.3837	N	0.22421	0.69	0.36033	D	0.839544	D	0.67145	0.996	P	0.62014	0.897	T	0.79478	-0.1787	10	0.87932	D	0	.	8.3682	0.32399	0.0:0.167:0.0:0.833	.	5236	O14686	MLL2_HUMAN	H	5236	ENSP00000301067:N5236H	ENSP00000301067:N5236H	N	-	1	0	MLL2	47706310	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.590000	0.36654	0.901000	0.36495	0.528000	0.53228	AAC	.	.		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
TUBA1C	84790	hgsc.bcm.edu	37	12	49666554	49666554	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:49666554A>T	ENST00000301072.6	+	4	1169	c.894A>T	c.(892-894)ccA>ccT	p.P298P	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.P368P	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	298					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCTTTGAGCCAGCCAACCAGA	0.512																																					p.P298P		Atlas-SNP	.											.	TUBA1C	32	.	0			c.A894T						.						62.0	81.0	74.0					12																	49666554		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			TGAGCCAGCCAAC	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.894A>T	chr12.hg19:g.49666554A>T		233.0	0.0		190.0	105.0	NM_032704		Silent	SNP	ENST00000301072.6	hg19	CCDS8782.1																																																																																			.	.		0.512	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
FAIM2	23017	hgsc.bcm.edu	37	12	50294962	50294962	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:50294962T>A	ENST00000320634.3	-	2	256	c.162A>T	c.(160-162)ccA>ccT	p.P54P	FAIM2_ENST00000550890.1_Silent_p.P8P	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	54					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGTGGGGGCTGGGGGGAAGG	0.642																																					p.P54P		Atlas-SNP	.											.	FAIM2	32	.	0			c.A162T						.						23.0	24.0	24.0					12																	50294962		2203	4300	6503	SO:0001819	synonymous_variant	23017	exon2			GGGGGCTGGGGGG	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.162A>T	chr12.hg19:g.50294962T>A		23.0	0.0		33.0	12.0	NM_012306	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Silent	SNP	ENST00000320634.3	hg19	CCDS8791.1																																																																																			.	.		0.642	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306	
ASIC1	41	hgsc.bcm.edu	37	12	50473727	50473727	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:50473727T>C	ENST00000447966.2	+	8	1323	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	ASIC1_ENST00000228468.4_Missense_Mutation_p.M365T|ASIC1_ENST00000552438.1_Missense_Mutation_p.M399T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	365					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GTGTGTGAAATGCCTTGCAAC	0.547																																					p.M399T		Atlas-SNP	.											.	.	.	.	0			c.T1196C						.						184.0	151.0	162.0					12																	50473727		2203	4300	6503	SO:0001583	missense	41	exon6			GTGAAATGCCTTG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1094T>C	chr12.hg19:g.50473727T>C	ENSP00000400228:p.Met365Thr	155.0	0.0		123.0	49.0	NM_001256830	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	hg19	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.566|3.566	-0.088614|-0.088614	0.07097|0.07097	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.60548	.|0.18;0.18;0.18	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.050504	.|0.85682	.|D	.|0.000000	T|T	0.13286|0.13286	0.0322|0.0322	N|N	0.00053|0.00053	-2.39|-2.39	0.44469|0.44469	D|D	0.997402|0.997402	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.44467|0.44467	-0.9326|-0.9326	5|10	.|0.02654	.|T	.|1	-35.4779|-35.4779	9.2714|9.2714	0.37673|0.37673	0.0:0.0808:0.0:0.9192|0.0:0.0808:0.0:0.9192	.|.	.|365;365	.|P78348;P78348-1	.|ACCN2_HUMAN;.	R|T	233|365;365;399	.|ENSP00000228468:M365T;ENSP00000400228:M365T;ENSP00000450247:M399T	.|ENSP00000228468:M365T	C|M	+|+	1|2	0|0	ACCN2|ACCN2	48759994|48759994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.823000|3.823000	0.55715|0.55715	2.143000|2.143000	0.66587|0.66587	0.459000|0.459000	0.35465|0.35465	TGC|ATG	.	.		0.547	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	
ASIC1	41	hgsc.bcm.edu	37	12	50474966	50474966	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:50474966T>A	ENST00000447966.2	+	10	1606		c.e10+2		ASIC1_ENST00000228468.4_Splice_Site|ASIC1_ENST00000552438.1_Splice_Site	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GCCTACGAGGTAAGCGGGGGC	0.701																																					.		Atlas-SNP	.											.	.	.	.	0			c.1377+2T>A						.						14.0	16.0	15.0					12																	50474966		2193	4291	6484	SO:0001630	splice_region_variant	41	exon10			ACGAGGTAAGCGG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1377+2T>A	chr12.hg19:g.50474966T>A		65.0	0.0		69.0	33.0	NM_001095	A3KN86|E5KBL7|P78349|Q96CV2	Splice_Site	SNP	ENST00000447966.2	hg19	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999198	0.74818	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000453327;ENST00000552438	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6671	0.68915	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCN2	48761233	1.000000	0.71417	0.937000	0.37676	0.941000	0.58515	6.016000	0.70798	2.110000	0.64415	0.459000	0.35465	.	.	.		0.701	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Intron
TFCP2	7024	hgsc.bcm.edu	37	12	51492562	51492562	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:51492562A>G	ENST00000257915.5	-	13	1874	c.1416T>C	c.(1414-1416)gaT>gaC	p.D472D	TFCP2_ENST00000307660.4_Silent_p.D421D|TFCP2_ENST00000549867.1_Silent_p.D394D|TFCP2_ENST00000548115.1_Silent_p.D421D	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	472					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATCTACCTCATCACTGATGA	0.428																																					p.D472D		Atlas-SNP	.											.	TFCP2	49	.	0			c.T1416C						.						116.0	104.0	108.0					12																	51492562		2203	4300	6503	SO:0001819	synonymous_variant	7024	exon13			TACCTCATCACTG	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1416T>C	chr12.hg19:g.51492562A>G		46.0	0.0		55.0	24.0	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	ENST00000257915.5	hg19	CCDS8808.1																																																																																			.	.		0.428	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
SLC4A8	9498	hgsc.bcm.edu	37	12	51865212	51865212	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:51865212A>G	ENST00000453097.2	+	14	2017	c.1800A>G	c.(1798-1800)ctA>ctG	p.L600L	SLC4A8_ENST00000535225.2_Silent_p.L547L|SLC4A8_ENST00000394856.1_Silent_p.L547L|SLC4A8_ENST00000514353.3_Silent_p.L547L|SLC4A8_ENST00000358657.3_Silent_p.L627L|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGCCTCCCTAATTTGCATTA	0.473																																					p.L600L		Atlas-SNP	.											.	SLC4A8	292	.	0			c.A1800G						.						178.0	161.0	167.0					12																	51865212		2203	4300	6503	SO:0001819	synonymous_variant	9498	exon14			CTCCCTAATTTGC	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1800A>G	chr12.hg19:g.51865212A>G		61.0	0.0		59.0	23.0	NM_001039960		Silent	SNP	ENST00000453097.2	hg19	CCDS44890.1																																																																																			.	.		0.473	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
KRT81	3887	hgsc.bcm.edu	37	12	52682242	52682242	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:52682242T>C	ENST00000327741.5	-	4	708		c.e4-2		KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81							extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCACATCCTGGAAAGGTGG	0.607																																					.		Atlas-SNP	.											.	KRT81	46	.	0			c.640-2A>G						.						109.0	111.0	110.0					12																	52682242		2203	4300	6503	SO:0001630	splice_region_variant	3887	exon5			ACATCCTGGAAAG	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.640-2A>G	chr12.hg19:g.52682242T>C		88.0	0.0		84.0	39.0	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Splice_Site	SNP	ENST00000327741.5	hg19	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.731601	0.48939	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2039	0.65721	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT81	50968509	1.000000	0.71417	0.999000	0.59377	0.376000	0.30014	8.024000	0.88770	1.752000	0.51891	0.374000	0.22700	.	.	.		0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	Intron
KRT6C	286887	hgsc.bcm.edu	37	12	52862953	52862953	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:52862953T>A	ENST00000252250.6	-	9	1635	c.1588A>T	c.(1588-1590)Agc>Tgc	p.S530C		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	530	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTGCCACTGCTGGAACTGAAG	0.602																																					p.S530C		Atlas-SNP	.											.	KRT6C	55	.	0			c.A1588T						.						87.0	85.0	86.0					12																	52862953		2203	4300	6503	SO:0001583	missense	286887	exon9			CACTGCTGGAACT	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1588A>T	chr12.hg19:g.52862953T>A	ENSP00000252250:p.Ser530Cys	133.0	0.0		122.0	56.0	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	hg19	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440784	0.25900	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.92699	-3.09	3.56	-1.08	0.09936	.	0.441395	0.19356	N	0.116270	D	0.88032	0.6328	L	0.61218	1.895	0.21256	N	0.999745	P	0.41643	0.758	B	0.40101	0.319	T	0.79519	-0.1770	10	0.37606	T	0.19	.	8.2783	0.31885	0.0:0.6247:0.0:0.3753	.	530	P48668	K2C6C_HUMAN	C	530;515	ENSP00000252250:S530C	ENSP00000252250:S530C	S	-	1	0	KRT6C	51149220	0.007000	0.16637	0.770000	0.31555	0.488000	0.33401	0.020000	0.13466	-0.368000	0.08040	0.363000	0.22086	AGC	.	.		0.602	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT72	140807	hgsc.bcm.edu	37	12	52979933	52979933	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:52979933C>A	ENST00000537672.2	-	9	1379	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	KRT72_ENST00000293745.2_Missense_Mutation_p.G457W|KRT72_ENST00000354310.4_Missense_Mutation_p.G415W|KRT72_ENST00000398066.3_Missense_Mutation_p.G269W	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	457	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCTCCTGCCCCAGCATTGGTG	0.597																																					p.G457W		Atlas-SNP	.											.	KRT72	70	.	0			c.G1369T						.						46.0	42.0	43.0					12																	52979933		2203	4300	6503	SO:0001583	missense	140807	exon9			CTGCCCCAGCATT	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1369G>T	chr12.hg19:g.52979933C>A	ENSP00000441160:p.Gly457Trp	58.0	0.0		51.0	24.0	NM_001146225	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	hg19	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639905	0.29157	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.83914	-1.71;-1.71;-1.78;-1.38	4.03	4.03	0.46877	.	.	.	.	.	D	0.87132	0.6101	L	0.61218	1.895	0.18873	N	0.999987	D;D	0.67145	0.996;0.992	P;P	0.60173	0.87;0.87	T	0.77619	-0.2520	9	0.38643	T	0.18	.	11.9301	0.52841	0.0:1.0:0.0:0.0	.	415;457	B4DEI8;Q14CN4	.;K2C72_HUMAN	W	457;457;415;269	ENSP00000441160:G457W;ENSP00000293745:G457W;ENSP00000346269:G415W;ENSP00000446151:G269W	ENSP00000293745:G457W	G	-	1	0	KRT72	51266200	0.012000	0.17670	0.228000	0.23943	0.108000	0.19459	1.471000	0.35365	2.254000	0.74563	0.545000	0.68477	GGG	.	.		0.597	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
KRT73	319101	hgsc.bcm.edu	37	12	53010081	53010081	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:53010081A>G	ENST00000305748.3	-	2	565	c.531T>C	c.(529-531)aaT>aaC	p.N177N	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	177	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCAGGTTATTCTTGCAGT	0.602																																					p.N177N		Atlas-SNP	.											.	KRT73	101	.	0			c.T531C						.						173.0	158.0	163.0					12																	53010081		2203	4300	6503	SO:0001819	synonymous_variant	319101	exon2			CAGGTTATTCTTG	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.531T>C	chr12.hg19:g.53010081A>G		121.0	0.0		88.0	49.0	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	hg19	CCDS8834.1																																																																																			.	.		0.602	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
KRT77	374454	hgsc.bcm.edu	37	12	53086355	53086355	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:53086355T>C	ENST00000341809.3	-	7	1305	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.Q193R	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	426	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTGCAGCTTCTGCCACGCATC	0.602																																					p.Q426R		Atlas-SNP	.											.	KRT77	58	.	0			c.A1277G						.						45.0	42.0	43.0					12																	53086355		2202	4268	6470	SO:0001583	missense	374454	exon7			AGCTTCTGCCACG	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1277A>G	chr12.hg19:g.53086355T>C	ENSP00000342710:p.Gln426Arg	43.0	0.0		43.0	21.0	NM_175078	Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	hg19	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	9.733	1.162806	0.21538	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.82167	-1.58;-1.58	4.29	4.29	0.51040	Filament (1);	.	.	.	.	T	0.79269	0.4417	L	0.41710	1.295	0.09310	N	1	P	0.43169	0.8	P	0.45232	0.474	T	0.69300	-0.5181	9	0.41790	T	0.15	.	10.2911	0.43596	0.1475:0.0:0.0:0.8525	.	426	Q7Z794	K2C1B_HUMAN	R	426;193	ENSP00000342710:Q426R;ENSP00000440803:Q193R	ENSP00000342710:Q426R	Q	-	2	0	KRT77	51372622	0.000000	0.05858	0.609000	0.28983	0.011000	0.07611	-0.734000	0.04893	1.708000	0.51301	0.334000	0.21626	CAG	.	.		0.602	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	
SOAT2	8435	hgsc.bcm.edu	37	12	53515148	53515148	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:53515148A>G	ENST00000301466.3	+	12	1259	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	400					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GTGGTCCATGACTGGCTGTAC	0.567																																					p.D400G		Atlas-SNP	.											.	SOAT2	44	.	0			c.A1199G						.						156.0	126.0	136.0					12																	53515148		2203	4300	6503	SO:0001583	missense	8435	exon12			TCCATGACTGGCT	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1199A>G	chr12.hg19:g.53515148A>G	ENSP00000301466:p.Asp400Gly	91.0	0.0		92.0	34.0	NM_003578	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	hg19	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.532041	0.64972	.	.	ENSG00000167780	ENST00000301466	T	0.73681	-0.77	4.44	3.3	0.37823	.	0.056003	0.64402	N	0.000002	T	0.75443	0.3850	M	0.84585	2.705	0.80722	D	1	B	0.29162	0.235	B	0.31812	0.136	T	0.74954	-0.3488	10	0.66056	D	0.02	-22.51	9.0608	0.36433	0.9108:0.0:0.0892:0.0	.	400	O75908	SOAT2_HUMAN	G	400	ENSP00000301466:D400G	ENSP00000301466:D400G	D	+	2	0	SOAT2	51801415	1.000000	0.71417	0.989000	0.46669	0.966000	0.64601	6.860000	0.75473	0.870000	0.35726	0.379000	0.24179	GAC	.	.		0.567	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1		
RARG	5916	hgsc.bcm.edu	37	12	53605571	53605571	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:53605571G>C	ENST00000425354.2	-	10	1741	c.1254C>G	c.(1252-1254)aaC>aaG	p.N418K	RARG_ENST00000394426.1_Missense_Mutation_p.N418K|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.N396K|RARG_ENST00000327550.3_Missense_Mutation_p.N346K|RARG_ENST00000338561.5_Missense_Mutation_p.N407K	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	418	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACATTTCAGGGTTCTCCAGCA	0.557																																					p.N418K		Atlas-SNP	.											.	RARG	53	.	0			c.C1254G						.						83.0	79.0	80.0					12																	53605571		2203	4300	6503	SO:0001583	missense	5916	exon10			TTCAGGGTTCTCC	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1254C>G	chr12.hg19:g.53605571G>C	ENSP00000388510:p.Asn418Lys	39.0	0.0		30.0	12.0	NM_000966	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	hg19	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114668	0.56505	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	D;D;D;D;D	0.92397	-2.86;-2.86;-3.03;-2.81;-2.91	4.35	4.35	0.52113	Nuclear hormone receptor, ligand-binding (2);	0.234953	0.40908	D	0.000981	D	0.94486	0.8225	M	0.79475	2.455	0.58432	D	0.999996	D;D;P	0.71674	0.994;0.998;0.51	D;D;B	0.68943	0.916;0.961;0.076	D	0.93882	0.7172	10	0.66056	D	0.02	.	6.745	0.23456	0.1948:0.0:0.8052:0.0	.	396;418;407	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	K	418;418;346;407;396	ENSP00000388510:N418K;ENSP00000377947:N418K;ENSP00000332695:N346K;ENSP00000343698:N407K;ENSP00000444335:N396K	ENSP00000332695:N346K	N	-	3	2	RARG	51891838	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.284000	0.51708	2.416000	0.81992	0.563000	0.77884	AAC	.	.		0.557	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966	
HOXC10	3226	hgsc.bcm.edu	37	12	54379618	54379618	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:54379618T>A	ENST00000303460.4	+	1	649	c.575T>A	c.(574-576)cTg>cAg	p.L192Q	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000567780.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	192					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCGCCTCAGCTGGGGGGCAAA	0.632																																					p.L192Q		Atlas-SNP	.											.	HOXC10	42	.	0			c.T575A						.						31.0	36.0	34.0					12																	54379618		2203	4299	6502	SO:0001583	missense	3226	exon1			CTCAGCTGGGGGG		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.575T>A	chr12.hg19:g.54379618T>A	ENSP00000307321:p.Leu192Gln	128.0	0.0		77.0	41.0	NM_017409	O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	hg19	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536306	0.27475	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.92099	-2.97	4.63	4.63	0.57726	.	0.222920	0.37219	N	0.002188	T	0.81427	0.4820	N	0.19112	0.55	0.32126	N	0.587386	P	0.39964	0.697	B	0.32289	0.143	T	0.82894	-0.0231	10	0.42905	T	0.14	.	6.2259	0.20708	0.0:0.187:0.0:0.813	.	192	Q9NYD6	HXC10_HUMAN	Q	80;192	ENSP00000307321:L192Q	ENSP00000307321:L192Q	L	+	2	0	HOXC10	52665885	0.999000	0.42202	1.000000	0.80357	0.766000	0.43426	1.894000	0.39768	1.863000	0.54032	0.459000	0.35465	CTG	.	.		0.632	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2		
NEUROD4	58158	hgsc.bcm.edu	37	12	55421151	55421151	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:55421151G>T	ENST00000242994.3	+	2	1306	c.928G>T	c.(928-930)Gac>Tac	p.D310Y		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	310					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGTTCCTATAGACATGTCCTA	0.458																																					p.D310Y		Atlas-SNP	.											NEUROD4,colon,carcinoma,0,1	NEUROD4	87	.	0			c.G928T						.						418.0	417.0	418.0					12																	55421151		2203	4300	6503	SO:0001583	missense	58158	exon2			CCTATAGACATGT	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.928G>T	chr12.hg19:g.55421151G>T	ENSP00000242994:p.Asp310Tyr	85.0	0.0		79.0	37.0	NM_021191	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	hg19	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616429	0.66672	.	.	ENSG00000123307	ENST00000242994	D	0.96300	-3.97	5.78	4.84	0.62591	.	0.195331	0.52532	D	0.000070	D	0.96944	0.9002	L	0.59436	1.845	0.58432	D	0.999997	D	0.67145	0.996	P	0.61328	0.887	D	0.96738	0.9544	10	0.87932	D	0	-35.0092	14.3844	0.66934	0.0:0.1488:0.8512:0.0	.	310	Q9HD90	NDF4_HUMAN	Y	310	ENSP00000242994:D310Y	ENSP00000242994:D310Y	D	+	1	0	NEUROD4	53707418	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.369000	0.97156	2.906000	0.99361	0.655000	0.94253	GAC	.	.		0.458	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
OR6C3	254786	hgsc.bcm.edu	37	12	55726148	55726148	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:55726148A>G	ENST00000379667.1	+	1	664	c.664A>G	c.(664-666)Att>Gtt	p.I222V		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	222					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(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TATCAGGACCATTTTGAGAAT	0.358																																					p.I222V		Atlas-SNP	.											.	OR6C3	36	.	0			c.A664G						.						177.0	173.0	175.0					12																	55726148		2202	4300	6502	SO:0001583	missense	254786	exon1			AGGACCATTTTGA	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.664A>G	chr12.hg19:g.55726148A>G	ENSP00000368989:p.Ile222Val	89.0	0.0		75.0	24.0	NM_054104		Missense_Mutation	SNP	ENST00000379667.1	hg19	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	A	2.677	-0.276287	0.05679	.	.	ENSG00000205329	ENST00000379667	T	0.00024	8.98	5.13	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.132938	0.33712	N	0.004628	T	0.00144	0.0004	L	0.48174	1.505	0.09310	N	1	B	0.15141	0.012	B	0.26864	0.074	T	0.21518	-1.0243	10	0.59425	D	0.04	.	9.3929	0.38383	0.8495:0.0:0.1505:0.0	.	222	Q9NZP0	OR6C3_HUMAN	V	222	ENSP00000368989:I222V	ENSP00000368989:I222V	I	+	1	0	OR6C3	54012415	0.003000	0.15002	0.016000	0.15963	0.003000	0.03518	0.266000	0.18534	1.059000	0.40554	0.528000	0.53228	ATT	.	.		0.358	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1		
NABP2	79035	hgsc.bcm.edu	37	12	56619992	56619992	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:56619992A>T	ENST00000380198.2	+	4	818	c.320A>T	c.(319-321)aAc>aTc	p.N107I	NABP2_ENST00000267023.4_Missense_Mutation_p.N107I|NABP2_ENST00000341463.5_Missense_Mutation_p.N107I			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	107					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										GAGGTTCCTAACTTCAGTGAG	0.512																																					p.N107I		Atlas-SNP	.											.	.	.	.	0			c.A320T						.						112.0	108.0	110.0					12																	56619992		2203	4300	6503	SO:0001583	missense	79035	exon5			TTCCTAACTTCAG	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.320A>T	chr12.hg19:g.56619992A>T	ENSP00000369545:p.Asn107Ile	152.0	0.0		116.0	58.0	NM_024068	A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	hg19	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299873	0.81136	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	4.32	4.32	0.51571	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.65498	2.005	0.58432	D	0.999992	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.71414	0.964;0.973;0.957	D	0.95149	0.8271	10	0.87932	D	0	-16.7133	12.834	0.57763	1.0:0.0:0.0:0.0	.	107;107;107	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	I	107	ENSP00000413902:N107I;ENSP00000408616:N107I;ENSP00000267023:N107I;ENSP00000369545:N107I;ENSP00000368862:N107I	ENSP00000267023:N107I	N	+	2	0	OBFC2B	54906259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.970000	0.93415	1.741000	0.51731	0.370000	0.22315	AAC	.	.		0.512	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068	
TIMELESS	8914	hgsc.bcm.edu	37	12	56827889	56827889	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:56827889T>C	ENST00000553532.1	-	2	216	c.66A>G	c.(64-66)ggA>ggG	p.G22G	TIMELESS_ENST00000554616.1_Silent_p.G22G|TIMELESS_ENST00000229201.4_Silent_p.G22G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGTAAGTGTCTCCCTCCAAGT	0.428																																					p.G22G		Atlas-SNP	.											.	TIMELESS	107	.	0			c.A66G						.						142.0	125.0	130.0					12																	56827889		2203	4300	6503	SO:0001819	synonymous_variant	8914	exon2			AGTGTCTCCCTCC	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.66A>G	chr12.hg19:g.56827889T>C		147.0	0.0		96.0	38.0	NM_003920		Silent	SNP	ENST00000553532.1	hg19	CCDS8918.1																																																																																			.	.		0.428	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
TAC3	6866	hgsc.bcm.edu	37	12	57407370	57407370	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:57407370G>T	ENST00000458521.2	-	3	359	c.200C>A	c.(199-201)gCt>gAt	p.A67D	TAC3_ENST00000441881.1_Missense_Mutation_p.A67D|TAC3_ENST00000415231.1_Missense_Mutation_p.A67D	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	67					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCTGTGCTAGCCTGGCTCAG	0.552																																					p.A67D		Atlas-SNP	.											.	TAC3	11	.	0			c.C200A						.						41.0	41.0	41.0					12																	57407370		2203	4300	6503	SO:0001583	missense	6866	exon3			GTGCTAGCCTGGC	AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"""Endogenous ligands"""	11521	protein-coding gene	gene with protein product	"""preprotachykinin-B"""	162330	"""neuromedin K"", ""neurokinin beta"""	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.200C>A	chr12.hg19:g.57407370G>T	ENSP00000404056:p.Ala67Asp	48.0	0.0		43.0	19.0	NM_013251	Q6IAG2|Q71BC6|Q71BC9	Missense_Mutation	SNP	ENST00000458521.2	hg19	CCDS8928.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029125	0.35797	.	.	ENSG00000166863	ENST00000458521;ENST00000441881;ENST00000415231	D;T;D	0.84146	-1.81;-1.47;-1.81	6.02	6.02	0.97574	.	0.135977	0.48767	D	0.000163	D	0.90940	0.7152	M	0.62723	1.935	0.41289	D	0.986966	D;D	0.76494	0.999;0.999	D;D	0.74023	0.96;0.982	D	0.90782	0.4680	10	0.56958	D	0.05	-15.699	16.0408	0.80680	0.0:0.0:1.0:0.0	.	67;67	Q9UHF0;Q9UHF0-3	TKNK_HUMAN;.	D	67	ENSP00000404056:A67D;ENSP00000408208:A67D;ENSP00000402995:A67D	ENSP00000300108:A67D	A	-	2	0	TAC3	55693637	0.996000	0.38824	0.954000	0.39281	0.032000	0.12392	4.839000	0.62810	2.865000	0.98341	0.655000	0.94253	GCT	.	.		0.552	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667	
KIF5A	3798	hgsc.bcm.edu	37	12	57970570	57970570	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:57970570T>A	ENST00000455537.2	+	20	2499	c.2225T>A	c.(2224-2226)cTa>cAa	p.L742Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.L653Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	742					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGTTAGAGCTAGAGAAGCTT	0.498																																					p.L742Q		Atlas-SNP	.											.	KIF5A	143	.	0			c.T2225A						.						88.0	79.0	82.0					12																	57970570		2203	4300	6503	SO:0001583	missense	3798	exon20			TAGAGCTAGAGAA	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2225T>A	chr12.hg19:g.57970570T>A	ENSP00000408979:p.Leu742Gln	72.0	0.0		61.0	25.0	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	hg19	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	9.232	1.036080	0.19590	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84660	-1.88;-1.88	4.4	4.4	0.53042	.	0.000000	0.64402	D	0.000010	T	0.71213	0.3313	N	0.13098	0.295	0.52099	D	0.999946	B;B	0.14438	0.01;0.004	B;B	0.15484	0.013;0.007	T	0.65323	-0.6196	10	0.10902	T	0.67	.	13.0832	0.59125	0.0:0.0:0.0:1.0	.	653;742	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	742;653	ENSP00000408979:L742Q;ENSP00000286452:L653Q	ENSP00000286452:L653Q	L	+	2	0	KIF5A	56256837	0.995000	0.38212	0.998000	0.56505	0.983000	0.72400	2.034000	0.41145	1.999000	0.58509	0.459000	0.35465	CTA	.	.		0.498	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
DTX3	196403	hgsc.bcm.edu	37	12	58001020	58001020	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:58001020T>A	ENST00000548198.1	+	3	1878	c.374T>A	c.(373-375)cTc>cAc	p.L125H	ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000548804.1_Missense_Mutation_p.L125H|DTX3_ENST00000337737.3_Missense_Mutation_p.L125H|DTX3_ENST00000551632.1_Missense_Mutation_p.L128H			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	125	Pro-rich.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCACCCCCTCTCCGAGCAGCC	0.706																																					p.L125H		Atlas-SNP	.											.	DTX3	27	.	0			c.T374A						.						10.0	12.0	12.0					12																	58001020		1824	4064	5888	SO:0001583	missense	196403	exon5			CCCCTCTCCGAGC	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.374T>A	chr12.hg19:g.58001020T>A	ENSP00000447873:p.Leu125His	50.0	0.0		44.0	21.0	NM_178502	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	hg19	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483366	0.26598	.	.	ENSG00000178498	ENST00000548804;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.47177	1.4;0.85;1.4;1.4;1.39;0.88	3.47	2.32	0.28847	.	0.161017	0.26895	N	0.021941	T	0.21509	0.0518	N	0.08118	0	0.22982	N	0.998478	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	10	0.37606	T	0.19	-0.0795	2.9399	0.05826	0.2152:0.1212:0.0:0.6635	.	125	Q8N9I9	DTX3_HUMAN	H	125;128;125;125;128;118	ENSP00000449294:L125H;ENSP00000449688:L128H;ENSP00000338050:L125H;ENSP00000447873:L125H;ENSP00000448696:L128H;ENSP00000448224:L118H	ENSP00000338050:L125H	L	+	2	0	DTX3	56287287	0.357000	0.24938	0.997000	0.53966	0.975000	0.68041	1.071000	0.30666	0.542000	0.28846	0.368000	0.22195	CTC	.	.		0.706	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502	
AGAP2	116986	hgsc.bcm.edu	37	12	58121778	58121778	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:58121778T>A	ENST00000547588.1	-	15	2707	c.2708A>T	c.(2707-2709)cAg>cTg	p.Q903L	AGAP2-AS1_ENST00000542466.2_3'UTR|RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Missense_Mutation_p.Q547L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	903	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTCGATGGCCTGGACCCAGGC	0.567																																					p.Q903L		Atlas-SNP	.											.	AGAP2	167	.	0			c.A2708T						.						160.0	147.0	152.0					12																	58121778		2203	4300	6503	SO:0001583	missense	116986	exon15			ATGGCCTGGACCC	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2708A>T	chr12.hg19:g.58121778T>A	ENSP00000449241:p.Gln903Leu	49.0	0.0		59.0	26.0	NM_001122772	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	hg19	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812142	0.50527	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.18502	2.21;2.21	5.0	5.0	0.66597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.128620	0.52532	D	0.000067	T	0.19406	0.0466	L	0.45352	1.415	0.80722	D	1	B;B;B	0.33345	0.409;0.011;0.292	B;B;B	0.37780	0.258;0.016;0.184	T	0.02797	-1.1109	10	0.49607	T	0.09	.	13.9938	0.64382	0.0:0.0:0.0:1.0	.	547;903;903	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	547;903	ENSP00000257897:Q547L;ENSP00000449241:Q903L	ENSP00000257897:Q547L	Q	-	2	0	AGAP2	56408045	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.057000	0.41365	2.007000	0.58848	0.533000	0.62120	CAG	.	.		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
PPM1H	57460	hgsc.bcm.edu	37	12	63083571	63083571	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:63083571T>C	ENST00000228705.6	-	8	1453	c.1153A>G	c.(1153-1155)Act>Gct	p.T385A	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	385	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ACTCCAATAGTTGCCATTACC	0.522																																					p.T385A		Atlas-SNP	.											.	PPM1H	42	.	0			c.A1153G						.						73.0	74.0	74.0					12																	63083571		1948	4153	6101	SO:0001583	missense	57460	exon8			CAATAGTTGCCAT	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1153A>G	chr12.hg19:g.63083571T>C	ENSP00000228705:p.Thr385Ala	62.0	0.0		52.0	22.0	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	hg19	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.939127	0.92526	.	.	ENSG00000111110	ENST00000228705	T	0.16324	2.35	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.07712	-1.0758	9	.	.	.	1.17	16.2167	0.82231	0.0:0.0:0.0:1.0	.	385	Q9ULR3	PPM1H_HUMAN	A	385	ENSP00000228705:T385A	.	T	-	1	0	PPM1H	61369838	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.633000	0.83260	2.231000	0.72958	0.533000	0.62120	ACT	.	.		0.522	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
CAND1	55832	hgsc.bcm.edu	37	12	67703830	67703830	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:67703830A>T	ENST00000545606.1	+	12	3612	c.3175A>T	c.(3175-3177)Aga>Tga	p.R1059*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1059					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AACAAAAGTTAGAAAGGAGCT	0.338																																					p.R1059X		Atlas-SNP	.											.	CAND1	100	.	0			c.A3175T						.						127.0	128.0	127.0					12																	67703830		2203	4299	6502	SO:0001587	stop_gained	55832	exon12			AAAGTTAGAAAGG		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3175A>T	chr12.hg19:g.67703830A>T	ENSP00000442318:p.Arg1059*	121.0	0.0		112.0	44.0	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Nonsense_Mutation	SNP	ENST00000545606.1	hg19	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	41	8.906242	0.98998	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.3867	11.0205	0.47715	0.7137:0.2863:0.0:0.0	.	.	.	.	X	1059;1059;599	.	.	R	+	1	2	CAND1	65990097	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	2.280000	0.43443	2.086000	0.62901	0.533000	0.62120	AGA	.	.		0.338	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
YEATS4	8089	hgsc.bcm.edu	37	12	69759665	69759665	+	Splice_Site	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:69759665G>T	ENST00000247843.2	+	4	603		c.e4+1		YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGAAAGACCTGTGAGTAGCAT	0.274																																					.		Atlas-SNP	.											.	YEATS4	15	.	0			c.333+1G>T						.						49.0	53.0	52.0					12																	69759665		2202	4292	6494	SO:0001630	splice_region_variant	8089	exon4			AGACCTGTGAGTA	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.333+1G>T	chr12.hg19:g.69759665G>T		257.0	0.0		263.0	99.0	NM_006530	Q9NQD0	Splice_Site	SNP	ENST00000247843.2	hg19	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942740	0.73672	.	.	ENSG00000127337	ENST00000247843;ENST00000549685;ENST00000552955	.	.	.	5.48	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4403	0.67311	0.071:0.0:0.929:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YEATS4	68045932	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.146000	0.94640	1.453000	0.47775	0.555000	0.69702	.	.	.		0.274	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530	Intron
LRRC10	376132	hgsc.bcm.edu	37	12	70004105	70004105	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:70004105T>C	ENST00000361484.3	-	1	837	c.514A>G	c.(514-516)Atc>Gtc	p.I172V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	172					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGAGCCAGATGGTCCTCAGC	0.587																																					p.I172V		Atlas-SNP	.											.	LRRC10	26	.	0			c.A514G						.						65.0	61.0	62.0					12																	70004105		2203	4300	6503	SO:0001583	missense	376132	exon1			GCCAGATGGTCCT	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.514A>G	chr12.hg19:g.70004105T>C	ENSP00000355166:p.Ile172Val	44.0	0.0		48.0	21.0	NM_201550	Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	hg19	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082500	0.55861	.	.	ENSG00000198812	ENST00000361484	T	0.25414	1.8	5.62	5.62	0.85841	.	0.043908	0.85682	D	0.000000	T	0.17831	0.0428	N	0.13272	0.32	0.44719	D	0.997712	B	0.32409	0.37	B	0.30316	0.114	T	0.06075	-1.0847	10	0.62326	D	0.03	.	16.1209	0.81357	0.0:0.0:0.0:1.0	.	172	Q5BKY1	LRC10_HUMAN	V	172	ENSP00000355166:I172V	ENSP00000355166:I172V	I	-	1	0	LRRC10	68290372	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.008000	0.63991	2.268000	0.75426	0.454000	0.30748	ATC	.	.		0.587	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550	
TRHDE	29953	hgsc.bcm.edu	37	12	73012775	73012775	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:73012775T>C	ENST00000261180.4	+	13	2387	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTTATCCTCTAGATAAATTA	0.353																																					p.L764P		Atlas-SNP	.											.	TRHDE	194	.	0			c.T2291C						.						49.0	53.0	52.0					12																	73012775		2202	4300	6502	SO:0001583	missense	29953	exon13			ATCCTCTAGATAA	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2291T>C	chr12.hg19:g.73012775T>C	ENSP00000261180:p.Leu764Pro	295.0	0.0		254.0	120.0	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	hg19	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743592	0.69418	.	.	ENSG00000072657	ENST00000261180	T	0.07908	3.15	5.77	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.30070	0.0753	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.05852	-1.0860	10	0.87932	D	0	.	12.6445	0.56728	0.1239:0.0:0.0:0.8761	.	764	Q9UKU6	TRHDE_HUMAN	P	764	ENSP00000261180:L764P	ENSP00000261180:L764P	L	+	2	0	TRHDE	71299042	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.625000	0.67770	1.077000	0.40990	0.533000	0.62120	CTA	.	.		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
CAPS2	84698	hgsc.bcm.edu	37	12	75716791	75716791	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:75716791C>A	ENST00000409445.3	-	5	507	c.311G>T	c.(310-312)tGt>tTt	p.C104F	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	104							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TGGAGTTTGACATGGTGTGAC	0.279																																					p.C104F		Atlas-SNP	.											.	CAPS2	96	.	0			c.G311T						.						37.0	33.0	34.0					12																	75716791		692	1588	2280	SO:0001583	missense	84698	exon5			GTTTGACATGGTG	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.311G>T	chr12.hg19:g.75716791C>A	ENSP00000386959:p.Cys104Phe	282.0	0.0		278.0	95.0	NM_032606	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	hg19	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	0.373	-0.932866	0.02359	.	.	ENSG00000180881	ENST00000409445	T	0.52526	0.66	4.75	1.82	0.25136	.	1.082800	0.07004	N	0.823820	T	0.32406	0.0828	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.16289	0.015	T	0.20306	-1.0279	10	0.25106	T	0.35	-0.0152	6.158	0.20348	0.4798:0.4319:0.0:0.0883	.	104	Q9BXY5	CAYP2_HUMAN	F	104	ENSP00000386959:C104F	ENSP00000386959:C104F	C	-	2	0	CAPS2	74003058	0.935000	0.31712	0.000000	0.03702	0.005000	0.04900	0.308000	0.19314	0.280000	0.22209	0.561000	0.74099	TGT	.	.		0.279	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
CAPS2	84698	hgsc.bcm.edu	37	12	75720286	75720286	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:75720286C>G	ENST00000409445.3	-	2	246	c.50G>C	c.(49-51)gGa>gCa	p.G17A	CAPS2_ENST00000393284.3_5'Flank|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Missense_Mutation_p.G5A	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	17							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTGAGTTCCTGTGTTTAT	0.343																																					p.G17A		Atlas-SNP	.											CAPS2_ENST00000409445,NS,carcinoma,0,1	CAPS2	96	.	0			c.G50C						.						110.0	100.0	103.0					12																	75720286		692	1591	2283	SO:0001583	missense	84698	exon2			TGAGTTCCTGTGT	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.50G>C	chr12.hg19:g.75720286C>G	ENSP00000386959:p.Gly17Ala	69.0	0.0		53.0	14.0	NM_032606	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	hg19	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119323	0.20877	.	.	ENSG00000180881	ENST00000409799;ENST00000409445	T;T	0.35236	1.32;1.74	4.41	2.05	0.26809	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	9	0.15499	T	0.54	.	3.4664	0.07552	0.0:0.4252:0.1959:0.379	.	17	Q9BXY5	CAYP2_HUMAN	A	5;17	ENSP00000386977:G5A;ENSP00000386959:G17A	ENSP00000386959:G17A	G	-	2	0	CAPS2	74006553	0.153000	0.22777	0.009000	0.14445	0.006000	0.05464	-0.076000	0.11412	0.850000	0.35239	0.462000	0.41574	GGA	.	.		0.343	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
GLIPR1L1	256710	hgsc.bcm.edu	37	12	75728612	75728612	+	Missense_Mutation	SNP	A	A	T	rs143627655	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:75728612A>T	ENST00000378695.4	+	1	194	c.104A>T	c.(103-105)gAc>gTc	p.D35V	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.D35V|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	35					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CACTTTATAGACAACTGCATA	0.468											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D35V		Atlas-SNP	.											.	GLIPR1L1	28	.	0			c.A104T						.						137.0	127.0	131.0					12																	75728612		2203	4300	6503	SO:0001583	missense	256710	exon1			TTATAGACAACTG	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.104A>T	chr12.hg19:g.75728612A>T	ENSP00000367967:p.Asp35Val	109.0	0.0	1162	107.0	48.0	NM_152779	Q96L06	Missense_Mutation	SNP	ENST00000378695.4	hg19		.	.	.	.	.	.	.	.	.	.	A	13.03	2.116432	0.37339	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.44083	0.93;0.93	4.81	4.81	0.61882	CAP domain (2);	0.966554	0.08581	N	0.924526	T	0.36608	0.0973	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.34372	0.449;0.451	B;B	0.39660	0.303;0.306	T	0.38023	-0.9680	10	0.59425	D	0.04	.	11.8737	0.52536	1.0:0.0:0.0:0.0	.	35;35	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	V	35	ENSP00000367967:D35V;ENSP00000310770:D35V	ENSP00000310770:D35V	D	+	2	0	GLIPR1L1	74014879	0.031000	0.19500	0.003000	0.11579	0.002000	0.02628	3.497000	0.53295	1.804000	0.52760	0.460000	0.39030	GAC	.	A|0.999;G|0.001		0.468	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779	
PTPRQ	374462	hgsc.bcm.edu	37	12	81042674	81042674	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:81042674A>T	ENST00000266688.5	+	41	5903		c.e41-1					Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q						regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TCTCTATTGCAGGTTACTTAG	0.289																																					.		Atlas-SNP	.											.	PTPRQ	119	.	0			c.5400-2A>T						.						92.0	81.0	85.0					12																	81042674		692	1591	2283	SO:0001630	splice_region_variant	374462	exon33			TATTGCAGGTTAC	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5904-1A>T	chr12.hg19:g.81042674A>T		257.0	0.0		231.0	87.0	NM_001145026		Splice_Site	SNP	ENST00000266688.5	hg19		.	.	.	.	.	.	.	.	.	.	A	17.73	3.461469	0.63513	.	.	ENSG00000139304	ENST00000266688;ENST00000532722	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2395	0.73458	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRQ	79566805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.986000	0.88173	2.057000	0.61298	0.482000	0.46254	.	.	.		0.289	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	Intron
MGAT4C	25834	hgsc.bcm.edu	37	12	86373569	86373569	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:86373569A>T	ENST00000604798.1	-	8	2139	c.935T>A	c.(934-936)aTg>aAg	p.M312K	MGAT4C_ENST00000393205.2_Missense_Mutation_p.M341K|MGAT4C_ENST00000552435.2_Missense_Mutation_p.H100Q|MGAT4C_ENST00000332156.1_Missense_Mutation_p.M312K|MGAT4C_ENST00000552808.2_Missense_Mutation_p.M312K|MGAT4C_ENST00000549405.2_Missense_Mutation_p.M312K|MGAT4C_ENST00000548651.1_Missense_Mutation_p.M312K			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	312					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATAATAGCCCATGTGCTGAAA	0.408																																					p.M312K		Atlas-SNP	.											.	MGAT4C	110	.	0			c.T935A						.						80.0	78.0	78.0					12																	86373569		2203	4300	6503	SO:0001583	missense	25834	exon7			TAGCCCATGTGCT		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.935T>A	chr12.hg19:g.86373569A>T	ENSP00000474896:p.Met312Lys	81.0	0.0		68.0	24.0	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	hg19	CCDS9030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.070742|3.070742	0.55539|0.55539	.|.	.|.	ENSG00000182050|ENSG00000182050	ENST00000552435|ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	.|T;T;T;T;T;T	.|0.49432	.|0.78;0.78;0.78;0.78;0.78;0.78	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.041776	.|0.85682	.|D	.|0.000000	T|T	0.67268|0.67268	0.2875|0.2875	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.56746	.|0.977;0.959	.|P;P	.|0.58873	.|0.847;0.847	T|T	0.70905|0.70905	-0.4745|-0.4745	6|10	0.72032|0.52906	D|T	0.01|0.07	-24.5606|-24.5606	16.1254|16.1254	0.81392|0.81392	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|341;312	.|B4DRH2;Q9UBM8	.|.;MGT4C_HUMAN	Q|K	100|312;341;312;312;312;312;312	.|ENSP00000331664:M312K;ENSP00000376900:M341K;ENSP00000449022:M312K;ENSP00000446647:M312K;ENSP00000447253:M312K;ENSP00000449172:M312K	ENSP00000448093:H100Q|ENSP00000331664:M312K	H|M	-|-	3|2	2|0	MGAT4C|MGAT4C	84897700|84897700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.360000|0.360000	0.29518|0.29518	9.332000|9.332000	0.96446|0.96446	2.195000|2.195000	0.70347|0.70347	0.529000|0.529000	0.55759|0.55759	CAT|ATG	.	.		0.408	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
CEP290	80184	hgsc.bcm.edu	37	12	88513944	88513944	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:88513944T>C	ENST00000552810.1	-	15	1812	c.1469A>G	c.(1468-1470)gAa>gGa	p.E490G	CEP290_ENST00000309041.7_Missense_Mutation_p.E490G|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	490					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GATCTTCAATTCAAGTTTATT	0.328																																					p.E490G		Atlas-SNP	.											.	CEP290	195	.	0			c.A1469G						.						81.0	73.0	75.0					12																	88513944		1825	4059	5884	SO:0001583	missense	80184	exon15			TTCAATTCAAGTT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1469A>G	chr12.hg19:g.88513944T>C	ENSP00000448012:p.Glu490Gly	311.0	0.0		274.0	119.0	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	hg19	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104406	0.56291	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.69175	-0.38;-0.38	5.67	4.53	0.55603	.	0.132878	0.48767	D	0.000161	T	0.59932	0.2230	L	0.49350	1.555	0.80722	D	1	B;B	0.19583	0.01;0.037	B;B	0.22386	0.004;0.039	T	0.60182	-0.7313	10	0.49607	T	0.09	.	11.0569	0.47925	0.0:0.0724:0.0:0.9276	.	490;490	Q05BJ6;O15078	.;CE290_HUMAN	G	490;490;490;392	ENSP00000448012:E490G;ENSP00000308021:E490G	ENSP00000308021:E490G	E	-	2	0	CEP290	87038075	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.819000	0.48049	2.156000	0.67533	0.528000	0.53228	GAA	.	.		0.328	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
LUM	4060	hgsc.bcm.edu	37	12	91502590	91502590	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:91502590A>T	ENST00000266718.4	-	2	621	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	56	LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTTCAATTTCAGCTCATCACA	0.403																																					p.L56Q		Atlas-SNP	.											.	LUM	65	.	0			c.T167A						.						114.0	111.0	112.0					12																	91502590		2203	4300	6503	SO:0001583	missense	4060	exon2			AATTTCAGCTCAT	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.167T>A	chr12.hg19:g.91502590A>T	ENSP00000266718:p.Leu56Gln	82.0	0.0		59.0	24.0	NM_002345	B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	hg19	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587601	0.66105	.	.	ENSG00000139329	ENST00000266718	D	0.96587	-4.06	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.063431	0.64402	D	0.000008	D	0.95589	0.8566	L	0.41236	1.265	0.47441	D	0.99942	P	0.47191	0.891	P	0.54889	0.763	D	0.94247	0.7490	10	0.31617	T	0.26	-6.7817	12.0999	0.53776	0.8568:0.1432:0.0:0.0	.	56	P51884	LUM_HUMAN	Q	56	ENSP00000266718:L56Q	ENSP00000266718:L56Q	L	-	2	0	LUM	90026721	1.000000	0.71417	0.955000	0.39395	0.769000	0.43574	6.423000	0.73361	2.284000	0.76573	0.528000	0.53228	CTG	.	.		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
UBE2N	7334	hgsc.bcm.edu	37	12	93804888	93804888	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:93804888G>A	ENST00000318066.2	-	2	595	c.218C>T	c.(217-219)aCc>aTc	p.T73I	UBE2N_ENST00000549833.1_Missense_Mutation_p.T10I|UBE2N_ENST00000550657.1_Missense_Mutation_p.T73I|UBE2N_ENST00000552442.1_Missense_Mutation_p.T73I	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	73					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						ATAAATTTTGGTCATGAAACG	0.378								Direct reversal of damage;Rad6 pathway																													p.T73I	Pancreas(197;738 2228 30225 32034 33454)	Atlas-SNP	.											.	UBE2N	20	.	0			c.C218T						.						91.0	92.0	92.0					12																	93804888		2203	4300	6503	SO:0001583	missense	7334	exon2			ATTTTGGTCATGA	D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.218C>T	chr12.hg19:g.93804888G>A	ENSP00000316176:p.Thr73Ile	195.0	0.0		186.0	84.0	NM_003348	Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	hg19	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756077	0.89843	.	.	ENSG00000177889	ENST00000318066;ENST00000550657;ENST00000549833;ENST00000552442	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.94	5.94	0.96194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000485	D	0.93772	0.8009	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95571	0.8638	10	0.87932	D	0	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	73	P61088	UBE2N_HUMAN	I	73;73;10;73	ENSP00000316176:T73I;ENSP00000449352:T73I;ENSP00000450260:T10I;ENSP00000448352:T73I	ENSP00000316176:T73I	T	-	2	0	UBE2N	92329019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.660000	0.98599	2.820000	0.97059	0.650000	0.86243	ACC	.	.		0.378	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1	NM_003348	
METAP2	10988	hgsc.bcm.edu	37	12	95905678	95905678	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:95905678A>C	ENST00000323666.5	+	9	1201	c.972A>C	c.(970-972)ccA>ccC	p.P324P	METAP2_ENST00000551840.1_Silent_p.P323P|METAP2_ENST00000550777.1_Silent_p.P288P|METAP2_ENST00000546753.1_Silent_p.P301P|METAP2_ENST00000261220.9_Silent_p.P301P	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						CAGTGAAACCAATCCGTAATC	0.358																																					p.P324P		Atlas-SNP	.											.	METAP2	28	.	0			c.A972C						.						92.0	84.0	87.0					12																	95905678		2203	4300	6503	SO:0001819	synonymous_variant	10988	exon9			GAAACCAATCCGT	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.972A>C	chr12.hg19:g.95905678A>C		69.0	0.0		55.0	17.0	NM_006838		Silent	SNP	ENST00000323666.5	hg19	CCDS9052.1																																																																																			.	.		0.358	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	
GAS2L3	283431	hgsc.bcm.edu	37	12	101018227	101018227	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:101018227A>C	ENST00000539410.1	+	9	2030	c.1644A>C	c.(1642-1644)ccA>ccC	p.P548P	GAS2L3_ENST00000266754.5_Silent_p.P548P|GAS2L3_ENST00000537247.1_Silent_p.P444P|GAS2L3_ENST00000547754.1_Silent_p.P548P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	548					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGCAAAGCCAGTCCCAGCAC	0.448																																					p.P548P		Atlas-SNP	.											.	GAS2L3	76	.	0			c.A1644C						.						48.0	48.0	48.0					12																	101018227		2203	4300	6503	SO:0001819	synonymous_variant	283431	exon10			AAAGCCAGTCCCA	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1644A>C	chr12.hg19:g.101018227A>C		102.0	0.0		95.0	37.0	NM_174942	B2RCN2	Silent	SNP	ENST00000539410.1	hg19	CCDS9079.1																																																																																			.	.		0.448	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	
SLC5A8	160728	hgsc.bcm.edu	37	12	101551063	101551063	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:101551063A>T	ENST00000536262.2	-	15	2385	c.1827T>A	c.(1825-1827)cgT>cgA	p.R609R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTTCACAAACGAGTCCCAT	0.378																																					p.R609R	GBM(60;420 1056 13605 22380 47675)	Atlas-SNP	.											.	SLC5A8	102	.	0			c.T1827A						.						135.0	118.0	124.0					12																	101551063		2203	4300	6503	SO:0001819	synonymous_variant	160728	exon15			TCACAAACGAGTC	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1827T>A	chr12.hg19:g.101551063A>T		101.0	0.0		73.0	8.0	NM_145913		Silent	SNP	ENST00000536262.2	hg19	CCDS9080.1																																																																																			.	.		0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
UTP20	27340	hgsc.bcm.edu	37	12	101748808	101748808	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:101748808A>G	ENST00000261637.4	+	41	5480	c.5306A>G	c.(5305-5307)aAg>aGg	p.K1769R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1769					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCTCAAAACAAGGAAGAAATA	0.428																																					p.K1769R		Atlas-SNP	.											UTP20,bladder,carcinoma,0,1	UTP20	222	.	0			c.A5306G						.						56.0	54.0	55.0					12																	101748808		2203	4300	6503	SO:0001583	missense	27340	exon41			AAAACAAGGAAGA	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5306A>G	chr12.hg19:g.101748808A>G	ENSP00000261637:p.Lys1769Arg	176.0	0.0		147.0	9.0	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	hg19	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	7.458	0.644125	0.14451	.	.	ENSG00000120800	ENST00000261637	T	0.19105	2.17	5.79	5.79	0.91817	Armadillo-type fold (1);	0.203901	0.50627	D	0.000107	T	0.20292	0.0488	L	0.52364	1.645	0.49798	D	0.99982	B	0.26512	0.151	B	0.23275	0.045	T	0.04268	-1.0964	10	0.19147	T	0.46	-21.0544	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1769	O75691	UTP20_HUMAN	R	1769	ENSP00000261637:K1769R	ENSP00000261637:K1769R	K	+	2	0	UTP20	100272939	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	4.724000	0.61972	2.207000	0.71202	0.533000	0.62120	AAG	.	.		0.428	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
STAB2	55576	hgsc.bcm.edu	37	12	104107485	104107485	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:104107485C>A	ENST00000388887.2	+	42	4680	c.4476C>A	c.(4474-4476)acC>acA	p.T1492T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAGAACCACCCCAGGAAGGC	0.532																																					p.T1492T		Atlas-SNP	.											.	STAB2	370	.	0			c.C4476A						.						277.0	251.0	260.0					12																	104107485		2203	4300	6503	SO:0001819	synonymous_variant	55576	exon42			AACCACCCCAGGA	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4476C>A	chr12.hg19:g.104107485C>A		89.0	0.0		93.0	36.0	NM_017564		Silent	SNP	ENST00000388887.2	hg19	CCDS31888.1																																																																																			.	.		0.532	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
TCP11L2	255394	hgsc.bcm.edu	37	12	106734764	106734764	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:106734764T>A	ENST00000299045.3	+	9	1477	c.1303T>A	c.(1303-1305)Tgg>Agg	p.W435R		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	435										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAATCCTATCTGGTCCTTGAT	0.358																																					p.W435R		Atlas-SNP	.											.	TCP11L2	59	.	0			c.T1303A						.						167.0	163.0	165.0					12																	106734764		2203	4300	6503	SO:0001583	missense	255394	exon9			CCTATCTGGTCCT	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1303T>A	chr12.hg19:g.106734764T>A	ENSP00000299045:p.Trp435Arg	81.0	0.0		66.0	39.0	NM_152772	B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	hg19	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	T	1.935	-0.445026	0.04604	.	.	ENSG00000166046	ENST00000299045	T	0.09723	2.95	5.58	-2.54	0.06307	.	0.591918	0.20480	N	0.091501	T	0.01558	0.0050	N	0.00108	-2.11	0.29274	N	0.870505	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	10	0.25106	T	0.35	-3.2136	4.8987	0.13764	0.2754:0.3182:0.0:0.4064	.	435	Q8N4U5	T11L2_HUMAN	R	435	ENSP00000299045:W435R	ENSP00000299045:W435R	W	+	1	0	TCP11L2	105258894	0.685000	0.27652	0.088000	0.20740	0.995000	0.86356	-0.356000	0.07661	-0.754000	0.04715	0.455000	0.32223	TGG	.	.		0.358	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772	
DAO	1610	hgsc.bcm.edu	37	12	109286766	109286766	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:109286766A>T	ENST00000228476.3	+	6	665	c.461A>T	c.(460-462)gAg>gTg	p.E154V	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	154					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AGGTTAACTGAGAGGGGAGTG	0.542																																					p.E154V		Atlas-SNP	.											.	DAO	58	.	0			c.A461T						.						177.0	145.0	156.0					12																	109286766		2203	4300	6503	SO:0001583	missense	1610	exon6			TAACTGAGAGGGG	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.461A>T	chr12.hg19:g.109286766A>T	ENSP00000228476:p.Glu154Val	68.0	0.0		53.0	21.0	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	hg19	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318326	0.40996	.	.	ENSG00000110887	ENST00000228476;ENST00000547768;ENST00000547166	D;D;D	0.83335	-1.71;-1.71;-1.71	5.82	4.69	0.59074	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.303860	0.39341	N	0.001381	D	0.83207	0.5204	M	0.74647	2.275	0.48571	D	0.999677	P	0.45348	0.856	P	0.46975	0.533	T	0.81675	-0.0825	10	0.32370	T	0.25	-16.0708	8.9302	0.35666	0.916:0.0:0.084:0.0	.	154	P14920	OXDA_HUMAN	V	154;31;154	ENSP00000228476:E154V;ENSP00000449967:E31V;ENSP00000447104:E154V	ENSP00000228476:E154V	E	+	2	0	DAO	107810895	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	4.782000	0.62396	2.223000	0.72356	0.482000	0.46254	GAG	.	.		0.542	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
HECTD4	283450	hgsc.bcm.edu	37	12	112717077	112717077	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:112717077T>G	ENST00000430131.2	-	9	1605	c.460A>C	c.(460-462)Acc>Ccc	p.T154P	HECTD4_ENST00000550722.1_Missense_Mutation_p.T404P|HECTD4_ENST00000377560.5_Missense_Mutation_p.T404P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	154					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGAGATCGGGTGGCAGAGCTG	0.458																																					p.T404P		Atlas-SNP	.											.	.	.	.	0			c.A1210C						.						78.0	78.0	78.0					12																	112717077		1872	4106	5978	SO:0001583	missense	283450	exon9			ATCGGGTGGCAGA	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.460A>C	chr12.hg19:g.112717077T>G	ENSP00000404379:p.Thr154Pro	65.0	0.0		43.0	18.0	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	hg19		.	.	.	.	.	.	.	.	.	.	T	20.2	3.956954	0.73902	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.53857	0.69;0.6;0.66	5.54	5.54	0.83059	.	.	.	.	.	T	0.54255	0.1847	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.65429	-0.6170	9	0.87932	D	0	.	15.6803	0.77364	0.0:0.0:0.0:1.0	.	154	Q9Y4D8	K0614_HUMAN	P	404;154;404	ENSP00000366783:T404P;ENSP00000404379:T154P;ENSP00000449784:T404P	ENSP00000366783:T404P	T	-	1	0	C12orf51	111201460	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.629000	0.83207	2.115000	0.64714	0.482000	0.46254	ACC	.	.		0.458	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RASAL1	8437	hgsc.bcm.edu	37	12	113557018	113557018	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:113557018A>T	ENST00000261729.5	-	8	872	c.557T>A	c.(556-558)cTg>cAg	p.L186Q	RASAL1_ENST00000548055.1_Missense_Mutation_p.L186Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.L186Q|RASAL1_ENST00000446861.3_Missense_Mutation_p.L186Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	186	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCTCCCGCAGCTCCAGCAC	0.617																																					p.L186Q		Atlas-SNP	.											.	RASAL1	89	.	0			c.T557A						.						68.0	59.0	62.0					12																	113557018		2203	4300	6503	SO:0001583	missense	8437	exon8			TCCCGCAGCTCCA	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.557T>A	chr12.hg19:g.113557018A>T	ENSP00000261729:p.Leu186Gln	63.0	0.0		50.0	22.0	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	hg19	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812995	0.90707	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.082956	0.50627	D	0.000119	D	0.85164	0.5634	M	0.85945	2.785	0.41541	D	0.98851	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.994;0.994;0.989;0.994;0.967;0.992;0.983	D	0.87972	0.2737	10	0.87932	D	0	.	14.5106	0.67784	1.0:0.0:0.0:0.0	.	186;186;186;198;186;186;186	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	186	ENSP00000450244:L186Q;ENSP00000261729:L186Q;ENSP00000395920:L186Q;ENSP00000448510:L186Q	ENSP00000261729:L186Q	L	-	2	0	RASAL1	112041401	1.000000	0.71417	0.990000	0.47175	0.978000	0.69477	8.840000	0.92125	2.085000	0.62840	0.402000	0.26972	CTG	.	.		0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
NOS1	4842	hgsc.bcm.edu	37	12	117680507	117680507	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:117680507A>G	ENST00000338101.4	-	20	3072	c.3068T>C	c.(3067-3069)cTa>cCa	p.L1023P	NOS1_ENST00000317775.6_Missense_Mutation_p.L989P|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GACATTGGATAGACCTGTGGG	0.512																																					p.L1023P	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											.	NOS1	240	.	0			c.T3068C						.						110.0	108.0	108.0					12																	117680507		1894	4109	6003	SO:0001583	missense	4842	exon21			TTGGATAGACCTG		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3068T>C	chr12.hg19:g.117680507A>G	ENSP00000337459:p.Leu1023Pro	76.0	0.0		60.0	31.0	NM_001204218		Missense_Mutation	SNP	ENST00000338101.4	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206962	0.79127	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.35973	1.28;1.28	4.47	4.47	0.54385	Riboflavin synthase-like beta-barrel (1);	0.261054	0.30269	N	0.010018	T	0.59376	0.2189	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65067	-0.6258	10	0.87932	D	0	-13.694	13.9206	0.63928	1.0:0.0:0.0:0.0	.	989	P29475	NOS1_HUMAN	P	884;989;989;1023	ENSP00000320758:L989P;ENSP00000337459:L1023P	ENSP00000320758:L989P	L	-	2	0	NOS1	116164890	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.391000	0.90177	1.857000	0.53885	0.377000	0.23210	CTA	.	.		0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	hgsc.bcm.edu	37	12	117703310	117703310	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:117703310G>T	ENST00000338101.4	-	11	1951	c.1947C>A	c.(1945-1947)gaC>gaA	p.D649E	NOS1_ENST00000317775.6_Missense_Mutation_p.D649E|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGGTCACTTTGTCACTCTGTG	0.577																																					p.D649E	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											.	NOS1	240	.	0			c.C1947A						.						43.0	43.0	43.0					12																	117703310		2059	4219	6278	SO:0001583	missense	4842	exon12			CACTTTGTCACTC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1947C>A	chr12.hg19:g.117703310G>T	ENSP00000337459:p.Asp649Glu	50.0	0.0		52.0	26.0	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	9.474	1.096323	0.20552	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.21191	2.02;2.02	5.37	4.47	0.54385	Nitric oxide synthase, oxygenase domain (2);	0.139018	0.64402	D	0.000004	T	0.13243	0.0321	L	0.31294	0.92	0.80722	D	1	B	0.34313	0.448	B	0.36134	0.218	T	0.03503	-1.1030	10	0.02654	T	1	-46.7229	10.2563	0.43399	0.1496:0.0:0.8504:0.0	.	649	P29475	NOS1_HUMAN	E	544;649;649;649	ENSP00000320758:D649E;ENSP00000337459:D649E	ENSP00000320758:D649E	D	-	3	2	NOS1	116187693	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.505000	0.53356	1.489000	0.48450	0.655000	0.94253	GAC	.	.		0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
KSR2	283455	hgsc.bcm.edu	37	12	118298200	118298200	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:118298200A>G	ENST00000339824.5	-	2	944	c.217T>C	c.(217-219)Tgc>Cgc	p.C73R	KSR2_ENST00000425217.1_Missense_Mutation_p.C44R			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	73					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTTTTGCAGGACAGCTGC	0.587																																					p.C44R		Atlas-SNP	.											.	KSR2	208	.	0			c.T130C						.						39.0	42.0	41.0					12																	118298200		1568	3582	5150	SO:0001583	missense	283455	exon2			TTTTGCAGGACAG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.217T>C	chr12.hg19:g.118298200A>G	ENSP00000339952:p.Cys73Arg	43.0	0.0		34.0	17.0	NM_173598	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	hg19		.	.	.	.	.	.	.	.	.	.	A	16.77	3.215483	0.58452	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78595	-1.19;-1.18	4.96	4.96	0.65561	.	.	.	.	.	T	0.76828	0.4042	L	0.43923	1.385	0.80722	D	1	P	0.48998	0.918	P	0.49140	0.601	T	0.78285	-0.2263	9	0.49607	T	0.09	.	13.9028	0.63815	1.0:0.0:0.0:0.0	.	73	Q6VAB6	KSR2_HUMAN	R	44;73	ENSP00000389715:C44R;ENSP00000339952:C73R	ENSP00000339952:C73R	C	-	1	0	KSR2	116782583	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.257000	0.95545	1.989000	0.58080	0.260000	0.18958	TGC	.	.		0.587	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
SRRM4	84530	hgsc.bcm.edu	37	12	119588876	119588876	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:119588876C>A	ENST00000267260.4	+	10	1519	c.1131C>A	c.(1129-1131)gtC>gtA	p.V377V		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	377	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGTTTGGTCCCATCCACAG	0.577																																					p.V377V		Atlas-SNP	.											.	SRRM4	131	.	0			c.C1131A						.						75.0	81.0	79.0					12																	119588876		1992	4177	6169	SO:0001819	synonymous_variant	84530	exon10			TTTGGTCCCATCC	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1131C>A	chr12.hg19:g.119588876C>A		86.0	0.0		92.0	42.0	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	hg19	CCDS44994.1																																																																																			.	.		0.577	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
GCN1L1	10985	hgsc.bcm.edu	37	12	120594786	120594786	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:120594786T>A	ENST00000300648.6	-	27	3110	c.3098A>T	c.(3097-3099)gAg>gTg	p.E1033V	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1033					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCAGCAACTCCGGGCCATT	0.612																																					p.E1033V		Atlas-SNP	.											.	GCN1L1	207	.	0			c.A3098T						.						45.0	53.0	51.0					12																	120594786		2076	4203	6279	SO:0001583	missense	10985	exon27			AGCAACTCCGGGC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3098A>T	chr12.hg19:g.120594786T>A	ENSP00000300648:p.Glu1033Val	73.0	0.0		56.0	18.0	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	hg19	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988639	0.53934	.	.	ENSG00000089154	ENST00000300648	T	0.48836	0.8	5.79	5.79	0.91817	Armadillo-type fold (2);	0.050794	0.85682	D	0.000000	T	0.49167	0.1541	M	0.68317	2.08	0.80722	D	1	P	0.49961	0.93	B	0.41236	0.351	T	0.54153	-0.8336	10	0.45353	T	0.12	.	16.1164	0.81306	0.0:0.0:0.0:1.0	.	1033	Q92616	GCN1L_HUMAN	V	1033	ENSP00000300648:E1033V	ENSP00000300648:E1033V	E	-	2	0	GCN1L1	119079169	1.000000	0.71417	0.814000	0.32528	0.315000	0.28087	6.868000	0.75516	2.198000	0.70561	0.482000	0.46254	GAG	.	.		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
COX6A1	1337	hgsc.bcm.edu	37	12	120875944	120875944	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:120875944T>C	ENST00000229379.2	+	1	52	c.15T>C	c.(13-15)ggT>ggC	p.G5G	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	5					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTAGTTGGTGTGTCCTCGG	0.617																																					p.G5G		Atlas-SNP	.											.	COX6A1	5	.	0			c.T15C						.						24.0	25.0	24.0					12																	120875944		2202	4299	6501	SO:0001819	synonymous_variant	1337	exon1			AGTTGGTGTGTCC	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.15T>C	chr12.hg19:g.120875944T>C		58.0	0.0		37.0	20.0	NM_004373	B2R500|O43714|Q32Q37	Silent	SNP	ENST00000229379.2	hg19	CCDS9197.1																																																																																			.	.		0.617	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373	
PITPNM2	57605	hgsc.bcm.edu	37	12	123498472	123498472	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:123498472C>A	ENST00000542749.1	-	2	259	c.196G>T	c.(196-198)Ggc>Tgc	p.G66C	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.G66C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.G66C|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G66C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	66					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGTGCATGCCCACATGATAC	0.617																																					p.G66C		Atlas-SNP	.											.	PITPNM2	105	.	0			c.G196T						.						148.0	119.0	129.0					12																	123498472		2203	4300	6503	SO:0001583	missense	57605	exon3			GCATGCCCACATG	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.196G>T	chr12.hg19:g.123498472C>A	ENSP00000437611:p.Gly66Cys	80.0	0.0		72.0	30.0	NM_020845	Q9P271	Missense_Mutation	SNP	ENST00000542749.1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925287	0.92319	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.47177	0.85;0.85;0.85	4.42	4.42	0.53409	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.83929	0.0305	10	0.87932	D	0	-46.6565	17.4015	0.87461	0.0:1.0:0.0:0.0	.	66;66;66	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	66	ENSP00000280562:G66C;ENSP00000322218:G66C;ENSP00000437611:G66C	ENSP00000280562:G66C	G	-	1	0	PITPNM2	122064425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.585000	0.82584	2.168000	0.68352	0.655000	0.94253	GGC	.	.		0.617	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
DNAH10	196385	hgsc.bcm.edu	37	12	124285839	124285839	+	Missense_Mutation	SNP	G	G	A	rs571838812		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:124285839G>A	ENST00000409039.3	+	15	2145	c.2120G>A	c.(2119-2121)gGg>gAg	p.G707E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	707	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACACAGCTGGGATACAGCGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.001				p.G707E		Atlas-SNP	.											.	DNAH10	888	.	0			c.G2120A						.						280.0	246.0	258.0					12																	124285839		2203	4300	6503	SO:0001583	missense	196385	exon15			CAGCTGGGATACA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2120G>A	chr12.hg19:g.124285839G>A	ENSP00000386770:p.Gly707Glu	76.0	0.0		74.0	38.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	3.796	-0.042686	0.07452	.	.	ENSG00000197653	ENST00000409039	T	0.54279	0.58	5.49	5.49	0.81192	Dynein heavy chain, domain-1 (1);	0.109402	0.36338	N	0.002659	T	0.45175	0.1329	L	0.58583	1.82	0.09310	N	0.999999	B;B;B	0.30361	0.199;0.277;0.045	B;B;B	0.35899	0.124;0.213;0.063	T	0.44436	-0.9328	10	0.05525	T	0.97	.	9.3321	0.38027	0.1995:0.0:0.8005:0.0	.	707;582;707	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	E	707	ENSP00000386770:G707E	ENSP00000386770:G707E	G	+	2	0	DNAH10	122851792	0.988000	0.35896	0.036000	0.18154	0.024000	0.10985	2.195000	0.42677	2.571000	0.86741	0.655000	0.94253	GGG	.	.		0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	hgsc.bcm.edu	37	12	124383215	124383215	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:124383215T>A	ENST00000409039.3	+	55	9165	c.9140T>A	c.(9139-9141)cTg>cAg	p.L3047Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3047	Stalk. {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(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCAAGCGTCTGGATGGGGGA	0.562																																					p.L3047Q		Atlas-SNP	.											.	DNAH10	888	.	0			c.T9140A						.						14.0	17.0	16.0					12																	124383215		2021	4190	6211	SO:0001583	missense	196385	exon55			AGCGTCTGGATGG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9140T>A	chr12.hg19:g.124383215T>A	ENSP00000386770:p.Leu3047Gln	92.0	0.0		92.0	44.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167450	0.78339	.	.	ENSG00000197653	ENST00000409039	D	0.81821	-1.54	4.66	4.66	0.58398	Dynein heavy chain, coiled coil stalk (1);	0.079027	0.52532	D	0.000063	D	0.92606	0.7651	H	0.96301	3.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94775	0.7948	10	0.87932	D	0	.	14.2582	0.66065	0.0:0.0:0.0:1.0	.	3047	Q8IVF4	DYH10_HUMAN	Q	3047	ENSP00000386770:L3047Q	ENSP00000386770:L3047Q	L	+	2	0	DNAH10	122949168	1.000000	0.71417	0.979000	0.43373	0.791000	0.44710	7.864000	0.87037	1.952000	0.56665	0.379000	0.24179	CTG	.	.		0.562	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NCOR2	9612	hgsc.bcm.edu	37	12	124886995	124886995	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:124886995T>A	ENST00000405201.1	-	14	1595	c.1595A>T	c.(1594-1596)gAg>gTg	p.E532V	NCOR2_ENST00000404121.2_Missense_Mutation_p.E102V|NCOR2_ENST00000356219.3_Missense_Mutation_p.E532V|NCOR2_ENST00000429285.2_Missense_Mutation_p.E531V|NCOR2_ENST00000404621.1_Missense_Mutation_p.E531V|NCOR2_ENST00000397355.1_Missense_Mutation_p.E532V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	532					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cttctcctcctccttctccgc	0.642																																					p.E532V		Atlas-SNP	.											.	NCOR2	475	.	0			c.A1595T						.						86.0	104.0	98.0					12																	124886995		2148	4243	6391	SO:0001583	missense	9612	exon16			TCCTCCTCCTTCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1595A>T	chr12.hg19:g.124886995T>A	ENSP00000384018:p.Glu532Val	70.0	0.0		56.0	26.0	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898391	0.33535	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.66815	-0.23;-0.21;-0.23;1.93;3.26;1.93;0.51	4.25	4.25	0.50352	.	1.156430	0.06472	N	0.731335	T	0.78509	0.4294	L	0.50333	1.59	0.45342	D	0.998338	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.78314	0.981;0.981;0.991	T	0.67749	-0.5590	10	0.59425	D	0.04	-6.829	11.0327	0.47783	0.0:0.0:0.0:1.0	.	531;532;532	C9J0Q5;C9J239;C9JFD3	.;.;.	V	532;531;532;532;532;102;531;532	ENSP00000384018:E532V;ENSP00000384202:E531V;ENSP00000348551:E532V;ENSP00000380513:E532V;ENSP00000385618:E102V;ENSP00000400281:E531V;ENSP00000402808:E532V	ENSP00000348551:E532V	E	-	2	0	NCOR2	123452948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.147000	0.58078	1.695000	0.51148	0.402000	0.26972	GAG	.	.		0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
TMEM132D	121256	hgsc.bcm.edu	37	12	130184613	130184613	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:130184613C>A	ENST00000422113.2	-	2	1036	c.710G>T	c.(709-711)gGg>gTg	p.G237V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	237					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GACGCAGTCCCCTCTCTCACC	0.667																																					p.G237V		Atlas-SNP	.											.	TMEM132D	299	.	0			c.G710T						.						80.0	74.0	76.0					12																	130184613		2203	4300	6503	SO:0001583	missense	121256	exon2			CAGTCCCCTCTCT	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.710G>T	chr12.hg19:g.130184613C>A	ENSP00000408581:p.Gly237Val	81.0	0.0		97.0	39.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	hg19	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032281	0.54790	.	.	ENSG00000151952	ENST00000422113	T	0.12984	2.63	5.35	4.45	0.53987	.	0.000000	0.64402	D	0.000004	T	0.39784	0.1091	M	0.87180	2.865	0.45439	D	0.998415	D	0.76494	0.999	D	0.63033	0.91	T	0.46317	-0.9200	9	.	.	.	-27.7105	14.4464	0.67352	0.0:0.7196:0.2804:0.0	.	237	Q14C87	T132D_HUMAN	V	237	ENSP00000408581:G237V	.	G	-	2	0	TMEM132D	128750566	0.960000	0.32886	0.043000	0.18650	0.033000	0.12548	2.514000	0.45503	1.218000	0.43458	0.650000	0.86243	GGG	.	.		0.667	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
MPHOSPH8	54737	hgsc.bcm.edu	37	13	20220900	20220900	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:20220900A>T	ENST00000361479.5	+	3	755	c.687A>T	c.(685-687)aaA>aaT	p.K229N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K229N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	229	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		aattaaagaaagttaaaaagg	0.299																																					p.K229N		Atlas-SNP	.											.	MPHOSPH8	58	.	0			c.A687T						.						19.0	21.0	20.0					13																	20220900		2151	4266	6417	SO:0001583	missense	54737	exon3			AAAGAAAGTTAAA	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.687A>T	chr13.hg19:g.20220900A>T	ENSP00000355388:p.Lys229Asn	169.0	0.0		152.0	57.0	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	hg19	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097574	0.56075	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.45276	0.9;0.9	5.93	4.72	0.59763	.	3.271500	0.00674	N	0.000655	T	0.64843	0.2635	M	0.68952	2.095	0.33530	D	0.593464	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.976;0.993;0.989	T	0.33343	-0.9872	10	0.23302	T	0.38	.	9.8709	0.41172	0.8137:0.0:0.1863:0.0	.	229;229;229	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	N	229	ENSP00000414663:K229N;ENSP00000355388:K229N	ENSP00000355388:K229N	K	+	3	2	MPHOSPH8	19118900	1.000000	0.71417	0.918000	0.36340	0.686000	0.39977	1.840000	0.39230	1.029000	0.39812	0.528000	0.53228	AAA	.	.		0.299	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
MICU2	221154	hgsc.bcm.edu	37	13	22113457	22113457	+	Missense_Mutation	SNP	T	T	A	rs371935367		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:22113457T>A	ENST00000382374.4	-	4	515	c.450A>T	c.(448-450)agA>agT	p.R150S		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	150					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CGCCAAGGTCTCTGAAAAAAG	0.313																																					p.R150S		Atlas-SNP	.											.	EFHA1	33	.	0			c.A450T						.						61.0	61.0	61.0					13																	22113457		2203	4300	6503	SO:0001583	missense	221154	exon4			AAGGTCTCTGAAA	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.450A>T	chr13.hg19:g.22113457T>A	ENSP00000371811:p.Arg150Ser	197.0	0.0		182.0	84.0	NM_152726	Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	hg19	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721802	0.68959	.	.	ENSG00000165487	ENST00000382374	T	0.39056	1.1	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.64260	1.97	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.54543	-0.8278	10	0.33141	T	0.24	-21.7224	10.7094	0.45973	0.0:0.0:0.0:1.0	.	150	Q8IYU8	EFHA1_HUMAN	S	150	ENSP00000371811:R150S	ENSP00000371811:R150S	R	-	3	2	EFHA1	21011457	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.451000	0.44952	1.819000	0.53055	0.402000	0.26972	AGA	.	.		0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
SGCG	6445	hgsc.bcm.edu	37	13	23898515	23898515	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:23898515T>A	ENST00000218867.3	+	8	835	c.711T>A	c.(709-711)ctT>ctA	p.L237L	SGCG_ENST00000545013.1_Silent_p.L237L|SGCG_ENST00000537476.1_Silent_p.L237L	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	237					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGCTTGTGCTTGATGCTGAAA	0.522																																					p.L237L		Atlas-SNP	.											.	SGCG	64	.	0			c.T711A						.						94.0	77.0	82.0					13																	23898515		2203	4300	6503	SO:0001819	synonymous_variant	6445	exon8			TGTGCTTGATGCT	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.711T>A	chr13.hg19:g.23898515T>A		48.0	0.0		38.0	17.0	NM_000231	Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	hg19	CCDS9299.1																																																																																			.	.		0.522	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
FLT3	2322	hgsc.bcm.edu	37	13	28601380	28601380	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:28601380T>C	ENST00000241453.7	-	17	2135		c.e17-2		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000380982.4_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAATTGGTCCTGAAATAGTTA	0.348			"""Mis, O"""		"""AML, ALL"""																																.		Atlas-SNP	.		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	FLT3	15525	.	0			c.2054-2A>G						.						69.0	68.0	68.0					13																	28601380		2203	4300	6503	SO:0001630	splice_region_variant	2322	exon18			TGGTCCTGAAATA	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2054-2A>G	chr13.hg19:g.28601380T>C		67.0	0.0		52.0	29.0	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	ENST00000241453.7	hg19	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388144	0.82902	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27499380	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.841000	0.86834	2.308000	0.77769	0.533000	0.62120	.	.	.		0.348	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron
FRY	10129	hgsc.bcm.edu	37	13	32812069	32812069	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:32812069A>T	ENST00000380250.3	+	44	6860	c.6364A>T	c.(6364-6366)Agt>Tgt	p.S2122C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2122						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGCTCTTCAGTCTGCTGAC	0.552																																					p.S2122C		Atlas-SNP	.											.	FRY	312	.	0			c.A6364T						.						87.0	89.0	88.0					13																	32812069		2069	4224	6293	SO:0001583	missense	10129	exon44			CTCTTCAGTCTGC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6364A>T	chr13.hg19:g.32812069A>T	ENSP00000369600:p.Ser2122Cys	88.0	0.0		55.0	27.0	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876250	0.51801	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26810	1.71	5.96	5.96	0.96718	.	0.037974	0.85682	D	0.000000	T	0.20007	0.0481	N	0.16368	0.405	0.80722	D	1	B	0.17038	0.02	B	0.23150	0.044	T	0.03221	-1.1059	10	0.46703	T	0.11	.	16.4381	0.83884	1.0:0.0:0.0:0.0	.	2122	Q5TBA9	FRY_HUMAN	C	2122;959	ENSP00000369600:S2122C	ENSP00000369600:S2122C	S	+	1	0	FRY	31710069	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.788000	0.69020	2.280000	0.76307	0.533000	0.62120	AGT	.	.		0.552	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	hgsc.bcm.edu	37	13	32841436	32841436	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:32841436G>C	ENST00000380250.3	+	55	8572	c.8076G>C	c.(8074-8076)atG>atC	p.M2692I	FRY_ENST00000542859.1_Missense_Mutation_p.M62I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2692						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCAGCTTATGTGTGACTCAG	0.537																																					p.M2692I		Atlas-SNP	.											.	FRY	312	.	0			c.G8076C						.						124.0	130.0	128.0					13																	32841436		2077	4229	6306	SO:0001583	missense	10129	exon55			GCTTATGTGTGAC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8076G>C	chr13.hg19:g.32841436G>C	ENSP00000369600:p.Met2692Ile	51.0	0.0		36.0	15.0	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	hg19	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001495	0.54254	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.21734	1.99	5.52	5.52	0.82312	.	0.042128	0.85682	D	0.000000	T	0.24236	0.0587	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.02424	-1.1161	10	0.30854	T	0.27	.	19.4344	0.94785	0.0:0.0:1.0:0.0	.	473;2692	Q8NB82;Q5TBA9	.;FRY_HUMAN	I	2692;336;62	ENSP00000369600:M2692I	ENSP00000369567:M336I	M	+	3	0	FRY	31739436	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.231000	0.65327	2.600000	0.87896	0.650000	0.86243	ATG	.	.		0.537	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
NBEA	26960	hgsc.bcm.edu	37	13	35731383	35731383	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:35731383T>C	ENST00000400445.3	+	21	3354	c.2820T>C	c.(2818-2820)gaT>gaC	p.D940D	NBEA_ENST00000310336.4_Silent_p.D940D|NBEA_ENST00000540320.1_Silent_p.D940D|NBEA_ENST00000379939.2_Silent_p.D940D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	940					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTGGGTGGATACCCTCTCAA	0.408																																					p.D940D		Atlas-SNP	.											.	NBEA	340	.	0			c.T2820C						.						63.0	63.0	63.0					13																	35731383		1865	4108	5973	SO:0001819	synonymous_variant	26960	exon21			GGTGGATACCCTC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2820T>C	chr13.hg19:g.35731383T>C		58.0	0.0		61.0	19.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	hg19	CCDS45026.1																																																																																			.	.		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
FREM2	341640	hgsc.bcm.edu	37	13	39262741	39262741	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:39262741A>T	ENST00000280481.7	+	1	1476	c.1260A>T	c.(1258-1260)gcA>gcT	p.A420A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	420					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAGAAGGAGCAGCTTCAGACC	0.527																																					p.A420A		Atlas-SNP	.											.	FREM2	385	.	0			c.A1260T						.						75.0	84.0	81.0					13																	39262741		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			AGGAGCAGCTTCA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1260A>T	chr13.hg19:g.39262741A>T		77.0	0.0		60.0	28.0	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	hg19	CCDS31960.1																																																																																			.	.		0.527	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	hgsc.bcm.edu	37	13	39357294	39357294	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:39357294T>A	ENST00000280481.7	+	5	5945	c.5729T>A	c.(5728-5730)gTg>gAg	p.V1910E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1910	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCGGAGATGTGAGCCAGGAG	0.433																																					p.V1910E		Atlas-SNP	.											.	FREM2	385	.	0			c.T5729A						.						200.0	182.0	188.0					13																	39357294		2203	4300	6503	SO:0001583	missense	341640	exon5			GAGATGTGAGCCA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5729T>A	chr13.hg19:g.39357294T>A	ENSP00000280481:p.Val1910Glu	104.0	0.0		103.0	42.0	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724867	0.48833	.	.	ENSG00000150893	ENST00000280481	T	0.32988	1.43	5.84	3.4	0.38934	Na-Ca exchanger/integrin-beta4 (2);	0.339678	0.30800	N	0.008842	T	0.35770	0.0943	M	0.67397	2.05	0.40479	D	0.980425	P	0.36909	0.573	B	0.41813	0.367	T	0.16424	-1.0403	10	0.62326	D	0.03	.	9.6982	0.40169	0.0:0.1455:0.0:0.8545	.	1910	Q5SZK8	FREM2_HUMAN	E	1910	ENSP00000280481:V1910E	ENSP00000280481:V1910E	V	+	2	0	FREM2	38255294	0.167000	0.22975	0.765000	0.31456	0.327000	0.28475	0.636000	0.24644	0.455000	0.26910	0.421000	0.28195	GTG	.	.		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
LRCH1	23143	hgsc.bcm.edu	37	13	47302989	47302989	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:47302989A>G	ENST00000389798.3	+	17	1969	c.1772A>G	c.(1771-1773)gAg>gGg	p.E591G	LRCH1_ENST00000311191.6_Missense_Mutation_p.E591G|LRCH1_ENST00000389797.3_Missense_Mutation_p.E626G	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	591	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGAGCATTGAGATGAGATTG	0.478																																					p.E626G		Atlas-SNP	.											.	LRCH1	104	.	0			c.A1877G						.						138.0	127.0	131.0					13																	47302989		2203	4300	6503	SO:0001583	missense	23143	exon18			GCATTGAGATGAG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1772A>G	chr13.hg19:g.47302989A>G	ENSP00000374448:p.Glu591Gly	81.0	0.0		58.0	23.0	NM_001164211	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	hg19	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726427	0.89298	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.70631	-0.33;-0.5;-0.42	5.81	5.81	0.92471	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89215	0.3567	10	0.87932	D	0	-0.9429	14.1039	0.65075	1.0:0.0:0.0:0.0	.	591;626;591	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	G	591;591;626	ENSP00000308493:E591G;ENSP00000374448:E591G;ENSP00000374447:E626G	ENSP00000308493:E591G	E	+	2	0	LRCH1	46200990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.556000	0.90697	2.216000	0.71823	0.533000	0.62120	GAG	.	.		0.478	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	
RB1	5925	hgsc.bcm.edu	37	13	49030437	49030437	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:49030437A>T	ENST00000267163.4	+	19	2050	c.1912A>T	c.(1912-1914)Acc>Tcc	p.T638S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	638	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCCTTCCAGACCCAGAAGCC	0.398		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.T638S		Atlas-SNP	.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1	1068	.	25	Whole gene deletion(15)|Unknown(10)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	c.A1912T						.						80.0	76.0	77.0					13																	49030437		2203	4300	6503	SO:0001583	missense	5925	exon19	Familial Cancer Database		TTCCAGACCCAGA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1912A>T	chr13.hg19:g.49030437A>T	ENSP00000267163:p.Thr638Ser	279.0	0.0		275.0	116.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	hg19	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610765	0.46527	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91843	-2.92	5.97	5.97	0.96955	Cyclin-like (1);	0.228456	0.45606	D	0.000358	D	0.87924	0.6300	L	0.60455	1.87	0.37381	D	0.912036	B	0.16166	0.016	B	0.10450	0.005	T	0.82257	-0.0547	10	0.13470	T	0.59	.	8.1931	0.31381	0.729:0.1385:0.0:0.1325	.	638	P06400	RB_HUMAN	S	617;638	ENSP00000267163:T638S	ENSP00000267163:T638S	T	+	1	0	RB1	47928438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.419000	0.34793	2.275000	0.75901	0.533000	0.62120	ACC	.	.		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
FNDC3A	22862	hgsc.bcm.edu	37	13	49781371	49781371	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:49781371A>T	ENST00000492622.2	+	26	3742	c.3437A>T	c.(3436-3438)cAg>cTg	p.Q1146L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.Q1146L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.Q1090L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1146	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTCATCTCTCAGAGGACTGAA	0.567																																					p.Q1146L		Atlas-SNP	.											.	FNDC3A	93	.	0			c.A3437T						.						114.0	94.0	101.0					13																	49781371		2203	4300	6503	SO:0001583	missense	22862	exon26			TCTCTCAGAGGAC	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3437A>T	chr13.hg19:g.49781371A>T	ENSP00000417257:p.Gln1146Leu	158.0	0.0		136.0	126.0	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	hg19	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982190	0.53827	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.37058	1.22;1.22;1.23	5.38	5.38	0.77491	.	0.100347	0.43579	D	0.000558	T	0.37320	0.0999	L	0.56769	1.78	0.50039	D	0.999841	B;B	0.33512	0.336;0.415	B;B	0.38500	0.275;0.25	T	0.13045	-1.0524	10	0.10111	T	0.7	-4.3017	14.5761	0.68249	1.0:0.0:0.0:0.0	.	1090;1146	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	L	1146;1082;1146;1090	ENSP00000417257:Q1146L;ENSP00000441831:Q1146L;ENSP00000381362:Q1090L	ENSP00000338579:Q1082L	Q	+	2	0	FNDC3A	48679372	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.351000	0.66022	2.035000	0.60131	0.528000	0.53228	CAG	.	.		0.567	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
SUGT1	10910	hgsc.bcm.edu	37	13	53227239	53227239	+	Splice_Site	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:53227239G>A	ENST00000343788.6	+	2	178		c.e2+1		SUGT1_ENST00000535397.1_Splice_Site|SUGT1_ENST00000483074.1_Splice_Site|SUGT1_ENST00000310528.8_Splice_Site	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGCGTTAGAGGTGAGAGAGCC	0.612											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		Atlas-SNP	.											.	SUGT1	37	.	0			c.96+1G>A						.						98.0	106.0	104.0					13																	53227239		2203	4300	6503	SO:0001630	splice_region_variant	10910	exon2			TTAGAGGTGAGAG	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.96+1G>A	chr13.hg19:g.53227239G>A		84.0	0.0	991	69.0	23.0	NM_001130912	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Splice_Site	SNP	ENST00000343788.6	hg19	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402523	0.62288	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0597	0.42266	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUGT1	52125240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.436000	0.59948	2.052000	0.61016	0.467000	0.42956	.	.	.		0.612	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		Intron
DIAPH3	81624	hgsc.bcm.edu	37	13	60490362	60490362	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:60490362C>G	ENST00000400324.4	-	19	2412	c.2192G>C	c.(2191-2193)cGg>cCg	p.R731P	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685P|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720P|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661P|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	731	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		ATATGGCACCCGAAAAGAGCT	0.338																																					p.R731P		Atlas-SNP	.											.	DIAPH3	139	.	0			c.G2192C						.						116.0	102.0	106.0					13																	60490362		1822	4086	5908	SO:0001583	missense	81624	exon19			GGCACCCGAAAAG	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.2192G>C	chr13.hg19:g.60490362C>G	ENSP00000383178:p.Arg731Pro	81.0	0.0		66.0	32.0	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736571	0.89482	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;1.04	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.89715	3.055	0.52099	D	0.999942	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.97;0.996;0.999	D	0.86408	0.1746	10	0.87932	D	0	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	468;468;731	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	P	731;731;720;685;661;720;661;685;731;468;731	ENSP00000383178:R731P;ENSP00000383184:R731P;ENSP00000367141:R720P;ENSP00000383173:R661P;ENSP00000383174:R685P;ENSP00000267215:R731P	ENSP00000267214:R468P	R	-	2	0	DIAPH3	59388363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.767000	0.95098	0.591000	0.81541	CGG	.	.		0.338	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
KLHL1	57626	hgsc.bcm.edu	37	13	70535471	70535471	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:70535471A>G	ENST00000377844.4	-	3	1545	c.786T>C	c.(784-786)gcT>gcC	p.A262A	KLHL1_ENST00000545028.1_Silent_p.A69A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	262	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGTCCCAGAGAGCATTGGGGT	0.388																																					p.A262A		Atlas-SNP	.											.	KLHL1	164	.	0			c.T786C						.						158.0	139.0	145.0					13																	70535471		2203	4300	6503	SO:0001819	synonymous_variant	57626	exon3			CCAGAGAGCATTG	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.786T>C	chr13.hg19:g.70535471A>G		92.0	0.0		77.0	29.0	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	hg19	CCDS9445.1																																																																																			.	.		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
IRG1	730249	hgsc.bcm.edu	37	13	77527812	77527812	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:77527812G>T	ENST00000377462.1	+	3	314	c.252G>T	c.(250-252)gtG>gtT	p.V84V	IRG1_ENST00000449753.1_Silent_p.V84V	NM_001258406.1	NP_001245335.1	A6NK06	IRG1_HUMAN	immunoresponsive 1 homolog (mouse)	84					cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to progesterone stimulus (GO:0071393)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of type I interferon production (GO:0032480)|positive regulation of antimicrobial humoral response (GO:0002760)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|propionate catabolic process (GO:0019543)|tolerance induction to lipopolysaccharide (GO:0072573)	mitochondrion (GO:0005739)	2-methylcitrate dehydratase activity (GO:0047547)|aconitate decarboxylase activity (GO:0047613)										CTGCTTTTGTGAACGGTGTGG	0.408																																					p.V80V		Atlas-SNP	.											.	IRG1	1	.	0			c.G240T						.																																			SO:0001819	synonymous_variant	730249	exon2			TTTTGTGAACGGT		CCDS58299.1	13q22.3	2013-04-29			ENSG00000102794	ENSG00000102794			33904	protein-coding gene	gene with protein product		615275				23610393	Standard	NM_001258406		Approved		uc031qmi.1	A6NK06	OTTHUMG00000017098	ENST00000377462.1:c.252G>T	chr13.hg19:g.77527812G>T		68.0	0.0		71.0	65.0	NM_001258406		Silent	SNP	ENST00000377462.1	hg19	CCDS58299.1																																																																																			.	.		0.408	IRG1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045311.1	XM_001133269	
MYCBP2	23077	hgsc.bcm.edu	37	13	77844588	77844588	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:77844588C>T	ENST00000544440.2	-	6	934	c.917G>A	c.(916-918)gGc>gAc	p.G306D	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G306D|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G344D|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTAATGCCATTACTAAA	0.343																																					p.G344D		Atlas-SNP	.											.	MYCBP2	1029	.	0			c.G1031A						.						88.0	87.0	87.0					13																	77844588		2203	4299	6502	SO:0001583	missense	23077	exon6			TTAATGCCATTAC	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.917G>A	chr13.hg19:g.77844588C>T	ENSP00000444596:p.Gly306Asp	155.0	0.0		148.0	62.0	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.104462	0.94245	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32272	1.47;1.46;1.47	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58418	-0.7640	10	0.87932	D	0	.	19.0683	0.93122	0.0:1.0:0.0:0.0	.	306	O75592	MYCB2_HUMAN	D	306;344;306	ENSP00000349892:G306D;ENSP00000384288:G344D;ENSP00000444596:G306D	ENSP00000349892:G306D	G	-	2	0	MYCBP2	76742589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.588000	0.87417	0.563000	0.77884	GGC	.	.		0.343	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SLITRK5	26050	hgsc.bcm.edu	37	13	88330290	88330290	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:88330290A>C	ENST00000325089.6	+	2	2866	c.2647A>C	c.(2647-2649)Agc>Cgc	p.S883R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S642R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	883					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATTCCCGTGCAGCCCCGCTGC	0.602																																					p.S883R		Atlas-SNP	.											.	SLITRK5	192	.	0			c.A2647C						.						52.0	55.0	54.0					13																	88330290		2203	4300	6503	SO:0001583	missense	26050	exon2			CCGTGCAGCCCCG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2647A>C	chr13.hg19:g.88330290A>C	ENSP00000366283:p.Ser883Arg	139.0	0.0		132.0	58.0	NM_015567	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	hg19	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796210	0.31777	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58797	0.31;0.66	5.57	4.41	0.53225	.	0.301301	0.36444	N	0.002592	T	0.31104	0.0786	N	0.08118	0	0.36300	D	0.856976	B;B	0.33413	0.411;0.068	B;B	0.28849	0.095;0.026	T	0.36383	-0.9750	9	.	.	.	-20.0065	9.0073	0.36120	0.9139:0.0:0.0861:0.0	.	642;883	B4DSH5;O94991	.;SLIK5_HUMAN	R	883;642	ENSP00000366283:S883R;ENSP00000442244:S642R	.	S	+	1	0	SLITRK5	87128291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.330000	0.52068	2.117000	0.64856	0.459000	0.35465	AGC	.	.		0.602	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
ITGBL1	9358	hgsc.bcm.edu	37	13	102250520	102250520	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:102250520T>G	ENST00000376180.3	+	7	1105	c.886T>G	c.(886-888)Tgc>Ggc	p.C296G	ITGBL1_ENST00000376162.3_Missense_Mutation_p.C203G|ITGBL1_ENST00000545560.2_Missense_Mutation_p.C155G	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	296	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGTGTAATTGCGGAAGATG	0.448																																					p.C296G		Atlas-SNP	.											.	ITGBL1	83	.	0			c.T886G						.						147.0	126.0	133.0					13																	102250520		2203	4300	6503	SO:0001583	missense	9358	exon7			TGTAATTGCGGAA	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.886T>G	chr13.hg19:g.102250520T>G	ENSP00000365351:p.Cys296Gly	65.0	0.0		56.0	50.0	NM_004791	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	hg19	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.564972	0.65651	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.96459	-4.02;-4.02;-4.02	5.42	5.42	0.78866	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	M	0.88377	2.95	0.80722	D	1	P;D	0.89917	0.947;1.0	D;D	0.97110	0.953;1.0	D	0.98505	1.0616	10	0.22706	T	0.39	.	15.4567	0.75321	0.0:0.0:0.0:1.0	.	155;296	B3KTP1;O95965	.;ITGBL_HUMAN	G	296;204;155;155;203	ENSP00000365351:C296G;ENSP00000439903:C155G;ENSP00000365332:C203G	ENSP00000365332:C203G	C	+	1	0	ITGBL1	101048521	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	7.603000	0.82811	2.045000	0.60652	0.533000	0.62120	TGC	.	.		0.448	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	
METTL21C	196541	hgsc.bcm.edu	37	13	103343193	103343193	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:103343193T>C	ENST00000267273.6	-	2	257	c.252A>G	c.(250-252)atA>atG	p.I84M		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	84					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CGTAACTCTCTATGGATTCCT	0.463																																					p.I84M		Atlas-SNP	.											.	METTL21C	23	.	0			c.A252G						.						153.0	129.0	137.0					13																	103343193		2203	4300	6503	SO:0001583	missense	196541	exon2			ACTCTCTATGGAT		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.252A>G	chr13.hg19:g.103343193T>C	ENSP00000267273:p.Ile84Met	105.0	0.0		125.0	114.0	NM_001010977		Missense_Mutation	SNP	ENST00000267273.6	hg19	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.918856	0.52546	.	.	ENSG00000139780	ENST00000267273	T	0.06449	3.3	6.16	-0.812	0.10853	.	0.176177	0.64402	D	0.000008	T	0.10078	0.0247	L	0.42632	1.34	0.39491	D	0.968057	D	0.64830	0.994	D	0.64410	0.925	T	0.36138	-0.9760	10	0.33141	T	0.24	-4.7417	3.0091	0.06038	0.2296:0.0654:0.3645:0.3405	.	84	Q5VZV1	MT21C_HUMAN	M	84	ENSP00000267273:I84M	ENSP00000267273:I84M	I	-	3	3	METTL21C	102141194	0.993000	0.37304	0.790000	0.31976	0.947000	0.59692	0.185000	0.16958	-0.318000	0.08665	0.528000	0.53228	ATA	.	.		0.463	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977	
CCDC168	643677	hgsc.bcm.edu	37	13	103383046	103383046	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:103383046A>G	ENST00000322527.2	-	1	6113	c.6114T>C	c.(6112-6114)atT>atC	p.I2038I		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	2038																	GTTCTGTATCAATGGAAAGAC	0.388																																					p.I6667I		Atlas-SNP	.											.	.	.	.	0			c.T20001C						.						97.0	88.0	90.0					13																	103383046		692	1591	2283	SO:0001819	synonymous_variant	643677	exon4			TGTATCAATGGAA		CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.6114T>C	chr13.hg19:g.103383046A>G		79.0	0.0		60.0	55.0	NM_001146197	Q8N800	Silent	SNP	ENST00000322527.2	hg19																																																																																				.	.		0.388	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146197	
LINC00283	100874057	hgsc.bcm.edu	37	13	103392604	103392604	+	RNA	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:103392604A>G	ENST00000430111.1	+	0	0									long intergenic non-protein coding RNA 283																		TTATAGTTTTATGGTATGATC	0.338																																					p.H3481H		Atlas-SNP	.											.	.	.	.	0			c.T10443C						.						89.0	71.0	76.0					13																	103392604		692	1589	2281			643677	exon4			AGTTTTATGGTAT			13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		chr13.hg19:g.103392604A>G		49.0	0.0		54.0	29.0	NM_001146197		Silent	SNP	ENST00000430111.1	hg19																																																																																				.	.		0.338	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
GRK1	6011	hgsc.bcm.edu	37	13	114324036	114324036	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:114324036T>A	ENST00000335678.6	+	2	966	c.734T>A	c.(733-735)gTa>gAa	p.V245E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTGATGAAAGTACACAGCAGG	0.498																																					p.V245E		Atlas-SNP	.											.	GRK1	41	.	0			c.T734A						.						234.0	241.0	239.0					13																	114324036		2109	4227	6336	SO:0001583	missense	6011	exon2			TGAAAGTACACAG			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.734T>A	chr13.hg19:g.114324036T>A	ENSP00000334876:p.Val245Glu	58.0	0.0		55.0	32.0	NM_002929	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	hg19		.	.	.	.	.	.	.	.	.	.	t	14.51	2.558287	0.45590	.	.	ENSG00000185974	ENST00000335678	T	0.26518	1.73	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127206	0.52532	D	0.000074	T	0.50274	0.1606	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.55554	-0.8123	9	0.87932	D	0	-18.6425	11.8052	0.52150	0.0:0.0:0.0:1.0	.	245	Q15835	RK_HUMAN	E	245	ENSP00000334876:V245E	ENSP00000334876:V245E	V	+	2	0	GRK1	113372037	1.000000	0.71417	0.089000	0.20774	0.038000	0.13279	7.081000	0.76844	1.731000	0.51592	0.418000	0.28097	GTA	.	.		0.498	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
OR4K2	390431	hgsc.bcm.edu	37	14	20344887	20344887	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:20344887T>C	ENST00000298642.2	+	1	497	c.461T>C	c.(460-462)aTg>aCg	p.M154T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGGGAGTTATGCATTCAATG	0.473																																					p.M154T		Atlas-SNP	.											.	OR4K2	97	.	0			c.T461C						.						353.0	344.0	347.0					14																	20344887		2203	4300	6503	SO:0001583	missense	390431	exon1			GAGTTATGCATTC		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.461T>C	chr14.hg19:g.20344887T>C	ENSP00000298642:p.Met154Thr	110.0	0.0		116.0	22.0	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	hg19	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	6.485	0.457625	0.12342	.	.	ENSG00000165762	ENST00000298642	T	0.36520	1.25	5.12	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.099316	0.44483	D	0.000441	T	0.19087	0.0458	N	0.05383	-0.06	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.16100	-1.0414	10	0.49607	T	0.09	.	9.2432	0.37509	0.0:0.0871:0.0:0.9129	.	154	Q8NGD2	OR4K2_HUMAN	T	154	ENSP00000298642:M154T	ENSP00000298642:M154T	M	+	2	0	OR4K2	19414727	0.369000	0.25039	0.999000	0.59377	0.697000	0.40408	2.999000	0.49473	0.934000	0.37316	0.460000	0.39030	ATG	.	.		0.473	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR4K15	81127	hgsc.bcm.edu	37	14	20444394	20444394	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:20444394T>C	ENST00000305051.5	+	1	792	c.717T>C	c.(715-717)gtT>gtC	p.V239V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	239						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(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTTGGTTGTCTCCTACA	0.458																																					p.V239V		Atlas-SNP	.											.	OR4K15	82	.	0			c.T717C						.						111.0	108.0	109.0					14																	20444394		2203	4298	6501	SO:0001819	synonymous_variant	81127	exon1			CTTGGTTGTCTCC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.717T>C	chr14.hg19:g.20444394T>C		68.0	0.0		86.0	52.0	NM_001005486	B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	hg19	CCDS32026.1																																																																																			.	.		0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
OR11G2	390439	hgsc.bcm.edu	37	14	20666491	20666491	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:20666491A>T	ENST00000357366.3	+	1	997	c.997A>T	c.(997-999)Aaa>Taa	p.K333*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	333						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(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tCTTAGGAACAAAGATATGAG	0.353																																					p.K333X		Atlas-SNP	.											.	OR11G2	73	.	0			c.A997T						.						91.0	98.0	96.0					14																	20666491		2203	4300	6503	SO:0001587	stop_gained	390439	exon1			AGGAACAAAGATA		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.997A>T	chr14.hg19:g.20666491A>T	ENSP00000349930:p.Lys333*	97.0	0.0		76.0	25.0	NM_001005503	Q6IF09|Q96R33	Nonsense_Mutation	SNP	ENST00000357366.3	hg19	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	a	23.9	4.469285	0.84533	.	.	ENSG00000196832	ENST00000357366	.	.	.	4.94	4.94	0.65067	.	0.128718	0.34879	N	0.003604	.	.	.	.	.	.	0.38836	D	0.955963	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1253	0.14880	0.7239:0.1848:0.0913:0.0	.	.	.	.	X	333	.	ENSP00000349930:K333X	K	+	1	0	OR11G2	19736331	0.021000	0.18746	1.000000	0.80357	0.985000	0.73830	0.725000	0.25970	2.077000	0.62373	0.533000	0.62120	AAA	.	.		0.353	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
TEP1	7011	hgsc.bcm.edu	37	14	20851687	20851687	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:20851687C>A	ENST00000262715.5	-	26	3867	c.3827G>T	c.(3826-3828)gGg>gTg	p.G1276V	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Missense_Mutation_p.G1168V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1276	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AATCAGCTGCCCATTCTGGTC	0.597																																					p.G1276V		Atlas-SNP	.											.	TEP1	224	.	0			c.G3827T						.						85.0	77.0	80.0					14																	20851687		2203	4300	6503	SO:0001583	missense	7011	exon26			AGCTGCCCATTCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3827G>T	chr14.hg19:g.20851687C>A	ENSP00000262715:p.Gly1276Val	99.0	0.0		91.0	47.0	NM_007110	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319991	0.81469	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	D;D	0.81579	-1.51;-1.51	5.51	5.51	0.81932	NACHT nucleoside triphosphatase (1);	0.051670	0.85682	D	0.000000	D	0.89234	0.6657	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.975;0.964;0.994	D	0.89561	0.3806	10	0.59425	D	0.04	-16.5151	18.1892	0.89802	0.0:1.0:0.0:0.0	.	1168;626;1276	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	V	1276;1276;1168	ENSP00000262715:G1276V;ENSP00000452574:G1168V	ENSP00000262715:G1276V	G	-	2	0	TEP1	19921527	0.994000	0.37717	0.976000	0.42696	0.998000	0.95712	5.568000	0.67385	2.571000	0.86741	0.655000	0.94253	GGG	.	.		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
TEP1	7011	hgsc.bcm.edu	37	14	20871535	20871535	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:20871535C>A	ENST00000262715.5	-	7	1307		c.e7+1		TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGGACTCACCTTTCTCTGC	0.408																																					.		Atlas-SNP	.											.	TEP1	224	.	0			c.1266+1G>T						.						180.0	176.0	177.0					14																	20871535		2203	4300	6503	SO:0001630	splice_region_variant	7011	exon8			GACTCACCTTTCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1266+1G>T	chr14.hg19:g.20871535C>A		121.0	0.0		106.0	51.0	NM_007110	A0AUV9	Splice_Site	SNP	ENST00000262715.5	hg19	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837166	0.16891	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0862	0.64957	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19941375	1.000000	0.71417	0.994000	0.49952	0.018000	0.09664	3.290000	0.51755	2.601000	0.87937	0.563000	0.77884	.	.	.		0.408	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	Intron
OXA1L	5018	hgsc.bcm.edu	37	14	23237247	23237247	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23237247A>T	ENST00000604262.1	+	3	329	c.306A>T	c.(304-306)gtA>gtT	p.V102V	OXA1L_ENST00000358043.5_Silent_p.V86V|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_Silent_p.V102V|OXA1L_ENST00000285848.5_Silent_p.V162V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	102					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTGCAGATGTAGTCCAAACTG	0.527																																					p.V162V		Atlas-SNP	.											.	OXA1L	49	.	0			c.A486T						.						55.0	53.0	53.0					14																	23237247		2203	4300	6503	SO:0001819	synonymous_variant	5018	exon3			AGATGTAGTCCAA		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.306A>T	chr14.hg19:g.23237247A>T		82.0	0.0		80.0	35.0	NM_005015	B4DPA2	Silent	SNP	ENST00000604262.1	hg19																																																																																				.	.		0.527	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015	
MMP14	4323	hgsc.bcm.edu	37	14	23312529	23312529	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23312529G>T	ENST00000311852.6	+	5	1013	c.752G>T	c.(751-753)aGt>aTt	p.S251I	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	251					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GAGCATTCCAGTGACCCCTCG	0.582																																					p.S251I		Atlas-SNP	.											.	MMP14	40	.	0			c.G752T						.						95.0	85.0	88.0					14																	23312529		2203	4300	6503	SO:0001583	missense	4323	exon5			ATTCCAGTGACCC		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.752G>T	chr14.hg19:g.23312529G>T	ENSP00000308208:p.Ser251Ile	53.0	0.0		44.0	15.0	NM_004995	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	hg19	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903582	0.72754	.	.	ENSG00000157227	ENST00000311852	T	0.24151	1.87	5.66	-1.86	0.07760	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.460849	0.26328	N	0.025011	T	0.39600	0.1084	M	0.90082	3.085	0.27922	N	0.938195	P	0.42757	0.789	P	0.46758	0.526	T	0.45789	-0.9237	10	0.72032	D	0.01	.	10.4148	0.44316	0.6276:0.0:0.3724:0.0	.	251	P50281	MMP14_HUMAN	I	251	ENSP00000308208:S251I	ENSP00000308208:S251I	S	+	2	0	MMP14	22382369	0.999000	0.42202	0.960000	0.40013	0.963000	0.63663	2.205000	0.42770	-0.455000	0.07054	-0.794000	0.03295	AGT	.	.		0.582	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995	
CEBPE	1053	hgsc.bcm.edu	37	14	23587945	23587945	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23587945G>T	ENST00000206513.5	-	1	880	c.356C>A	c.(355-357)gCg>gAg	p.A119E		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	119					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTCCTTCACCGCCACAGCCCT	0.677																																					p.A119E	NSCLC(63;1230 1818 14565 22565)	Atlas-SNP	.											.	CEBPE	34	.	0			c.C356A						.						20.0	22.0	21.0					14																	23587945		2202	4298	6500	SO:0001583	missense	1053	exon1			TTCACCGCCACAG		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.356C>A	chr14.hg19:g.23587945G>T	ENSP00000206513:p.Ala119Glu	39.0	0.0		42.0	18.0	NM_001805	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	hg19	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675656	0.47781	.	.	ENSG00000092067	ENST00000206513	T	0.32023	1.47	5.22	5.22	0.72569	.	0.429650	0.23362	N	0.049003	T	0.19046	0.0457	L	0.27053	0.805	0.36601	D	0.87466	B	0.32160	0.358	B	0.29176	0.099	T	0.15983	-1.0418	10	0.13853	T	0.58	-11.7292	11.106	0.48203	0.0864:0.0:0.9136:0.0	.	119	Q15744	CEBPE_HUMAN	E	119	ENSP00000206513:A119E	ENSP00000206513:A119E	A	-	2	0	CEBPE	22657785	0.975000	0.34042	0.950000	0.38849	0.752000	0.42762	1.730000	0.38125	2.421000	0.82119	0.561000	0.74099	GCG	.	.		0.677	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805	
MYH6	4624	hgsc.bcm.edu	37	14	23858850	23858850	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23858850A>T	ENST00000356287.3	-	26	3840	c.3811T>A	c.(3811-3813)Tcc>Acc	p.S1271T	MYH6_ENST00000405093.3_Missense_Mutation_p.S1271T|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1271					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCATTGAGGGAGCGTTGGGCC	0.567																																					p.S1271T		Atlas-SNP	.											.	MYH6	274	.	0			c.T3811A						.						119.0	97.0	104.0					14																	23858850		2203	4300	6503	SO:0001583	missense	4624	exon27			TGAGGGAGCGTTG	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3811T>A	chr14.hg19:g.23858850A>T	ENSP00000348634:p.Ser1271Thr	139.0	0.0		126.0	55.0	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	a	7.225	0.598121	0.13939	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.77877	-1.13;-1.13	4.82	4.82	0.62117	Myosin tail (1);	.	.	.	.	T	0.49762	0.1576	N	0.04148	-0.265	0.30858	N	0.733842	B	0.02656	0.0	B	0.09377	0.004	T	0.49624	-0.8920	9	0.06236	T	0.91	.	5.6867	0.17807	0.5546:0.1325:0.0:0.313	.	1271	P13533	MYH6_HUMAN	T	1271	ENSP00000386041:S1271T;ENSP00000348634:S1271T	ENSP00000348634:S1271T	S	-	1	0	MYH6	22928690	0.000000	0.05858	1.000000	0.80357	0.748000	0.42578	-0.355000	0.07671	1.932000	0.55993	0.459000	0.35465	TCC	.	.		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH7	4625	hgsc.bcm.edu	37	14	23892879	23892879	+	Silent	SNP	C	C	A	rs368728770		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23892879C>A	ENST00000355349.3	-	24	3138	c.2976G>T	c.(2974-2976)ctG>ctT	p.L992L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	992					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCCTTGGTCAGCTTGGCAA	0.537																																					p.L992L		Atlas-SNP	.											.	MYH7	349	.	0			c.G2976T						.						156.0	150.0	152.0					14																	23892879		2203	4300	6503	SO:0001819	synonymous_variant	4625	exon24			CTTGGTCAGCTTG	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2976G>T	chr14.hg19:g.23892879C>A		102.0	0.0		91.0	39.0	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	hg19	CCDS9601.1																																																																																			.	.		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	hgsc.bcm.edu	37	14	23900689	23900689	+	Splice_Site	SNP	C	C	A	rs397516267		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:23900689C>A	ENST00000355349.3	-	9	896	c.734G>T	c.(733-735)gGg>gTg	p.G245V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	245	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGAATTTCCCCTGGAGAGA	0.512																																					p.G245V		Atlas-SNP	.											.	MYH7	349	.	0			c.G734T						.						136.0	136.0	136.0					14																	23900689		2203	4300	6503	SO:0001630	splice_region_variant	4625	exon9			AATTTCCCCTGGA	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.733-1G>T	chr14.hg19:g.23900689C>A		70.0	0.0		67.0	27.0	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771113	0.49680	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97888	-4.59	3.47	3.47	0.39725	Myosin head, motor domain (3);	.	.	.	.	D	0.99378	0.9781	H	0.99855	4.85	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.97754	1.0216	9	0.87932	D	0	.	15.4877	0.75578	0.0:1.0:0.0:0.0	.	245	P12883	MYH7_HUMAN	V	245	ENSP00000347507:G245V	ENSP00000347507:G245V	G	-	2	0	MYH7	22970529	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.440000	0.80464	1.946000	0.56461	0.305000	0.20034	GGG	.	.		0.512	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Missense_Mutation
DCAF11	80344	hgsc.bcm.edu	37	14	24586232	24586232	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:24586232G>T	ENST00000446197.3	+	3	989	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	DCAF11_ENST00000396936.1_Missense_Mutation_p.L9F|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000559115.1_Missense_Mutation_p.G88W|DCAF11_ENST00000396941.4_Missense_Mutation_p.G62W	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	88					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGGTCGTCTTGGGGATCGATA	0.443																																					p.G88W		Atlas-SNP	.											.	.	.	.	0			c.G262T						.						114.0	111.0	112.0					14																	24586232		2203	4300	6503	SO:0001583	missense	80344	exon3			CGTCTTGGGGATC	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.262G>T	chr14.hg19:g.24586232G>T	ENSP00000415556:p.Gly88Trp	186.0	0.0		147.0	69.0	NM_025230	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	hg19	CCDS9610.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.5|22.5	4.302290|4.302290	0.81136|0.81136	.|.	.|.	ENSG00000100897|ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941|ENST00000396936	T;T|T	0.50001|0.56275	0.76;0.87|0.47	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.048773|.	0.85682|.	D|.	0.000000|.	T|T	0.51856|0.51856	0.1699|0.1699	L|L	0.57536|0.57536	1.79|1.79	0.33970|0.33970	D|D	0.646678|0.646678	D;D;D|B;B	0.89917|0.17038	0.999;0.998;1.0|0.012;0.02	D;P;D|B;B	0.97110|0.16722	0.989;0.87;1.0|0.014;0.016	T|T	0.58962|0.58962	-0.7543|-0.7543	10|9	0.87932|0.41790	D|T	0|0.15	-28.7435|-28.7435	16.3214|16.3214	0.82952|0.82952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	62;88;88|32;9	Q8TEB1-2;A8K9T2;Q8TEB1|Q59GN6;Q8TEB1-3	.;.;DCA11_HUMAN|.;.	W|F	88;62;62|9	ENSP00000415556:G62W;ENSP00000380146:G62W|ENSP00000380142:L9F	ENSP00000323680:G88W|ENSP00000380142:L9F	G|L	+|+	1|3	0|2	DCAF11|DCAF11	23656072|23656072	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.929000|0.929000	0.56500|0.56500	7.434000|7.434000	0.80377|0.80377	2.720000|2.720000	0.93068|0.93068	0.563000|0.563000	0.77884|0.77884	GGG|TTG	.	.		0.443	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		
ADCY4	196883	hgsc.bcm.edu	37	14	24792119	24792119	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:24792119A>T	ENST00000310677.4	-	19	2446	c.2333T>A	c.(2332-2334)tTg>tAg	p.L778*	ADCY4_ENST00000418030.2_Nonsense_Mutation_p.L778*|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.L778*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	778					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTGGAGTCCAAGGGGCCCAG	0.642																																					p.L778X		Atlas-SNP	.											.	ADCY4	86	.	0			c.T2333A						.						19.0	20.0	20.0					14																	24792119		2196	4296	6492	SO:0001587	stop_gained	196883	exon19			GAGTCCAAGGGGC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2333T>A	chr14.hg19:g.24792119A>T	ENSP00000312126:p.Leu778*	55.0	0.0		68.0	41.0	NM_001198592	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Nonsense_Mutation	SNP	ENST00000310677.4	hg19	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	A	39	7.378070	0.98245	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	.	.	.	4.41	-6.55	0.01854	.	2.065940	0.02472	N	0.087674	.	.	.	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	1.0086	0.01492	0.2871:0.2779:0.2834:0.1516	.	.	.	.	X	778	.	ENSP00000312126:L778X	L	-	2	0	ADCY4	23861959	0.000000	0.05858	0.054000	0.19295	0.883000	0.51084	-1.588000	0.02106	-0.839000	0.04212	0.460000	0.39030	TTG	.	.		0.642	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
NFATC4	4776	hgsc.bcm.edu	37	14	24841727	24841727	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:24841727G>T	ENST00000250373.4	+	3	1418	c.1277G>T	c.(1276-1278)aGa>aTa	p.R426I	NFATC4_ENST00000554661.1_Missense_Mutation_p.R356I|NFATC4_ENST00000553708.1_Missense_Mutation_p.R426I|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.R458I|NFATC4_ENST00000553469.1_Missense_Mutation_p.R458I|NFATC4_ENST00000556169.1_Missense_Mutation_p.R414I|NFATC4_ENST00000413692.2_Missense_Mutation_p.R489I|NFATC4_ENST00000539237.2_Missense_Mutation_p.R458I|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000555590.1_Missense_Mutation_p.R439I|NFATC4_ENST00000554591.1_Missense_Mutation_p.R489I|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000554344.1_Missense_Mutation_p.R356I|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000553879.1_Missense_Mutation_p.R356I|NFATC4_ENST00000557451.1_Missense_Mutation_p.R356I|NFATC4_ENST00000422617.3_Missense_Mutation_p.R414I|NFATC4_ENST00000555453.1_Missense_Mutation_p.R414I|NFATC4_ENST00000424781.2_Missense_Mutation_p.R439I|NFATC4_ENST00000554050.1_Missense_Mutation_p.R426I|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000554966.1_Missense_Mutation_p.R439I	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	426	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTACAGCCTAGAGCCCACCAC	0.617																																					p.R489I		Atlas-SNP	.											.	NFATC4	115	.	0			c.G1466T						.						50.0	50.0	50.0					14																	24841727		2203	4300	6503	SO:0001583	missense	4776	exon4			AGCCTAGAGCCCA	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1277G>T	chr14.hg19:g.24841727G>T	ENSP00000250373:p.Arg426Ile	47.0	0.0		56.0	32.0	NM_001198967	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	hg19	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173541	0.57584	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554779;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;1.77;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.01	5.01	0.66863	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.053425	0.64402	D	0.000001	T	0.61702	0.2368	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.994;0.999;0.994;0.997;0.999;0.999;0.999;0.999;0.997;0.997;0.999;0.997;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.75020	0.931;0.961;0.935;0.974;0.935;0.964;0.974;0.974;0.974;0.974;0.964;0.964;0.985;0.964;0.979	T	0.64537	-0.6384	10	0.87932	D	0	-4.2966	15.8646	0.79055	0.0:0.0:1.0:0.0	.	414;414;458;458;439;439;439;489;489;414;356;458;403;489;426	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	I	489;489;439;439;439;458;458;458;426;118;426;426;356;356;356;414;356;414;414	ENSP00000388910:R489I;ENSP00000452039:R489I;ENSP00000451224:R439I;ENSP00000450644:R439I;ENSP00000388668:R439I;ENSP00000439350:R458I;ENSP00000452270:R458I;ENSP00000451502:R458I;ENSP00000451151:R426I;ENSP00000451992:R118I;ENSP00000250373:R426I;ENSP00000450590:R426I;ENSP00000452349:R356I;ENSP00000450469:R356I;ENSP00000450733:R356I;ENSP00000451454:R414I;ENSP00000451284:R356I;ENSP00000396788:R414I;ENSP00000450686:R414I	ENSP00000250373:R426I	R	+	2	0	NFATC4	23911567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.603000	0.88011	0.655000	0.94253	AGA	.	.		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
NFATC4	4776	hgsc.bcm.edu	37	14	24843545	24843545	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:24843545C>A	ENST00000250373.4	+	6	1887	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	NFATC4_ENST00000554661.1_Silent_p.A512A|NFATC4_ENST00000553708.1_Silent_p.A582A|NFATC4_ENST00000555802.1_5'UTR|NFATC4_ENST00000556279.1_Silent_p.A614A|NFATC4_ENST00000553469.1_Silent_p.A614A|NFATC4_ENST00000556169.1_Silent_p.A570A|NFATC4_ENST00000413692.2_Silent_p.A645A|NFATC4_ENST00000539237.2_Silent_p.A614A|NFATC4_ENST00000554473.1_Silent_p.A117A|NFATC4_ENST00000555590.1_Silent_p.A595A|NFATC4_ENST00000554591.1_Silent_p.A645A|NFATC4_ENST00000557767.1_5'UTR|NFATC4_ENST00000554344.1_Silent_p.A512A|NFATC4_ENST00000555167.1_Silent_p.A117A|NFATC4_ENST00000556759.1_Silent_p.A117A|NFATC4_ENST00000553879.1_Silent_p.A512A|NFATC4_ENST00000557451.1_Silent_p.A512A|NFATC4_ENST00000422617.3_Silent_p.A570A|NFATC4_ENST00000555453.1_Silent_p.A570A|NFATC4_ENST00000424781.2_Silent_p.A595A|NFATC4_ENST00000554050.1_Silent_p.A582A|NFATC4_ENST00000555393.1_5'UTR|NFATC4_ENST00000554966.1_Silent_p.A595A	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	582	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCGCTCAGCCCAGGAGCTGC	0.642																																					p.A645A		Atlas-SNP	.											.	NFATC4	115	.	0			c.C1935A						.						36.0	31.0	33.0					14																	24843545		2203	4300	6503	SO:0001819	synonymous_variant	4776	exon7			CTCAGCCCAGGAG	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1746C>A	chr14.hg19:g.24843545C>A		45.0	0.0		44.0	21.0	NM_001198967	B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	hg19	CCDS9629.1																																																																																			.	.		0.642	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554	
NKX2-8	26257	hgsc.bcm.edu	37	14	37051488	37051488	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:37051488T>A	ENST00000258829.5	-	1	324	c.107A>T	c.(106-108)cAg>cTg	p.Q36L		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	36					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GGGGTCGGGCTGGGGGGCGCG	0.687																																					p.Q36L		Atlas-SNP	.											.	NKX2-8	13	.	0			c.A107T						.						16.0	18.0	18.0					14																	37051488		2198	4292	6490	SO:0001583	missense	26257	exon1			TCGGGCTGGGGGG		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.107A>T	chr14.hg19:g.37051488T>A	ENSP00000258829:p.Gln36Leu	102.0	0.0		73.0	31.0	NM_014360	Q8IUT7	Missense_Mutation	SNP	ENST00000258829.5	hg19	CCDS9660.1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158856	0.21454	.	.	ENSG00000136327	ENST00000258829	D	0.90069	-2.61	4.44	-4.55	0.03441	.	2.387170	0.01947	N	0.042373	T	0.78966	0.4367	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66333	-0.5950	10	0.37606	T	0.19	.	8.8062	0.34938	0.1142:0.23:0.0:0.6558	.	36	O15522	NKX28_HUMAN	L	36	ENSP00000258829:Q36L	ENSP00000258829:Q36L	Q	-	2	0	NKX2-8	36121239	0.000000	0.05858	0.000000	0.03702	0.817000	0.46193	-0.283000	0.08433	-0.818000	0.04329	0.449000	0.29647	CAG	.	.		0.687	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6		
KLHL28	54813	hgsc.bcm.edu	37	14	45414552	45414552	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:45414552T>A	ENST00000396128.4	-	2	699	c.580A>T	c.(580-582)Acc>Tcc	p.T194S	KLHL28_ENST00000355081.2_Missense_Mutation_p.T208S	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	194										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTCTCTTCGGTAGCTACATTC	0.378																																					p.T194S		Atlas-SNP	.											.	KLHL28	53	.	0			c.A580T						.						102.0	101.0	102.0					14																	45414552		2203	4300	6503	SO:0001583	missense	54813	exon2			CTTCGGTAGCTAC	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.580A>T	chr14.hg19:g.45414552T>A	ENSP00000379434:p.Thr194Ser	97.0	0.0		108.0	49.0	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	hg19	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	7.032	0.560896	0.13498	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.65916	-0.18;-0.18	5.85	5.85	0.93711	BTB/Kelch-associated (2);	0.042865	0.85682	D	0.000000	T	0.30039	0.0752	N	0.00890	-1.11	0.45747	D	0.998648	B;B	0.27264	0.0;0.173	B;B	0.28011	0.002;0.085	T	0.47522	-0.9111	10	0.02654	T	1	.	15.897	0.79341	0.0:0.0:0.0:1.0	.	194;194	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	S	194;208	ENSP00000379434:T194S;ENSP00000347193:T208S	ENSP00000347193:T208S	T	-	1	0	KLHL28	44484302	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.796000	0.69080	2.238000	0.73509	0.533000	0.62120	ACC	.	.		0.378	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
FANCM	57697	hgsc.bcm.edu	37	14	45658267	45658267	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:45658267A>T	ENST00000267430.5	+	20	5127	c.5042A>T	c.(5041-5043)aAt>aTt	p.N1681I	FANCM_ENST00000542564.2_Missense_Mutation_p.N1655I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1681					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AACAATGTAAATGATAAAAGA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N1681I		Atlas-SNP	.											.	FANCM	225	.	0			c.A5042T						.						73.0	76.0	75.0					14																	45658267		2203	4300	6503	SO:0001583	missense	57697	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ATGTAAATGATAA	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5042A>T	chr14.hg19:g.45658267A>T	ENSP00000267430:p.Asn1681Ile	111.0	0.0		106.0	44.0	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.45|13.45	2.239444|2.239444	0.39598|0.39598	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.19532	.|2.72;2.72;2.14	5.02|5.02	3.84|3.84	0.44239|0.44239	.|.	.|0.755219	.|0.13314	.|N	.|0.397248	T|T	0.18002|0.18002	0.0432|0.0432	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P	.|0.41265	.|0.744;0.744	.|B;B	.|0.35859	.|0.212;0.212	T|T	0.09079|0.09079	-1.0691|-1.0691	5|10	.|0.49607	.|T	.|0.09	.|.	9.1624|9.1624	0.37030|0.37030	0.8158:0.1842:0.0:0.0|0.8158:0.1842:0.0:0.0	.|.	.|1655;1681	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	N|I	613|1681;1655;1197	.|ENSP00000267430:N1681I;ENSP00000442493:N1655I;ENSP00000452033:N1197I	.|ENSP00000267430:N1681I	K|N	+|+	3|2	2|0	FANCM|FANCM	44728017|44728017	0.002000|0.002000	0.14202|0.14202	0.021000|0.021000	0.16686|0.16686	0.363000|0.363000	0.29612|0.29612	0.901000|0.901000	0.28445|0.28445	0.972000|0.972000	0.38314|0.38314	0.528000|0.528000	0.53228|0.53228	AAA|AAT	.	.		0.338	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
POLE2	5427	hgsc.bcm.edu	37	14	50140842	50140842	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:50140842T>A	ENST00000216367.5	-	5	515	c.416A>T	c.(415-417)cAg>cTg	p.Q139L	POLE2_ENST00000554396.1_Splice_Site_p.Q139L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Splice_Site_p.Q113L	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	139					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CAAACTTACCTGGTGCAAAAT	0.418																																					p.Q139L		Atlas-SNP	.											.	POLE2	36	.	0			c.A416T						.						228.0	242.0	237.0					14																	50140842		2203	4300	6503	SO:0001630	splice_region_variant	5427	exon5			CTTACCTGGTGCA	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.417+1A>T	chr14.hg19:g.50140842T>A		89.0	0.0		93.0	39.0	NM_001197331	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	hg19	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481451	0.84747	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.37235	1.63;1.65;1.21	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.73430	-0.3985	10	0.87932	D	0	-10.0145	14.9498	0.71064	0.0:0.0:0.0:1.0	.	139	P56282	DPOE2_HUMAN	L	139;113;139	ENSP00000216367:Q139L;ENSP00000446313:Q113L;ENSP00000451621:Q139L	ENSP00000216367:Q139L	Q	-	2	0	POLE2	49210592	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.995000	0.76257	1.996000	0.58369	0.528000	0.53228	CAG	.	.		0.418	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692	Missense_Mutation
NEMF	9147	hgsc.bcm.edu	37	14	50318359	50318359	+	Silent	SNP	T	T	C	rs548635945		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:50318359T>C	ENST00000298310.5	-	3	602	c.153A>G	c.(151-153)ttA>ttG	p.L51L	RN7SL3_ENST00000578231.1_RNA|NEMF_ENST00000556672.1_Silent_p.L51L|NEMF_ENST00000545773.1_Silent_p.L51L|NEMF_ENST00000546046.1_Silent_p.L51L			O60524	NEMF_HUMAN	nuclear export mediator factor	51					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAGATTCAAGTAAAAGTGTAG	0.368													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0				p.L51L		Atlas-SNP	.											.	NEMF	79	.	0			c.A153G						.						106.0	106.0	106.0					14																	50318359		2203	4300	6503	SO:0001819	synonymous_variant	9147	exon3			TTCAAGTAAAAGT	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.153A>G	chr14.hg19:g.50318359T>C		53.0	0.0		63.0	26.0	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	hg19	CCDS9694.1																																																																																			.	.		0.368	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NID2	22795	hgsc.bcm.edu	37	14	52481921	52481921	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:52481921G>C	ENST00000216286.5	-	15	3100	c.3101C>G	c.(3100-3102)cCc>cGc	p.P1034R	NID2_ENST00000541773.1_Missense_Mutation_p.P933R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1034	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTCATCCCGGGGGGTGCCACC	0.617																																					p.P1034R		Atlas-SNP	.											.	NID2	201	.	0			c.C3101G						.						50.0	47.0	48.0					14																	52481921		2203	4300	6503	SO:0001583	missense	22795	exon15			TCCCGGGGGGTGC	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3101C>G	chr14.hg19:g.52481921G>C	ENSP00000216286:p.Pro1034Arg	127.0	0.0		119.0	58.0	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	hg19	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813751	0.70912	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.61859	0.07;0.07	5.67	5.67	0.87782	Thyroglobulin type-1 (4);	0.095044	0.85682	D	0.000000	T	0.70945	0.3282	L	0.45228	1.405	0.47308	D	0.999386	D;D;D;D	0.76494	0.998;0.973;0.994;0.999	D;D;D;D	0.75484	0.979;0.918;0.954;0.986	T	0.69551	-0.5115	10	0.48119	T	0.1	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	628;933;1036;1034	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	R	1034;628;933;1036	ENSP00000216286:P1034R;ENSP00000443730:P933R	ENSP00000216286:P1034R	P	-	2	0	NID2	51551671	1.000000	0.71417	0.067000	0.19924	0.370000	0.29829	9.339000	0.96797	2.680000	0.91292	0.655000	0.94253	CCC	.	.		0.617	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
GPR137C	283554	hgsc.bcm.edu	37	14	53100355	53100355	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:53100355G>T	ENST00000321662.6	+	5	975	c.975G>T	c.(973-975)caG>caT	p.Q325H		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	325						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TCCGGGCACAGAGATTAAACC	0.358																																					p.Q325H		Atlas-SNP	.											.	GPR137C	24	.	0			c.G975T						.						101.0	94.0	96.0					14																	53100355		1831	4087	5918	SO:0001583	missense	283554	exon5			GGCACAGAGATTA	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.975G>T	chr14.hg19:g.53100355G>T	ENSP00000315106:p.Gln325His	75.0	0.0		69.0	30.0	NM_001099652	Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	hg19	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.692640|2.692640	0.48202|0.48202	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000542169|ENST00000321662	.|T	.|0.48522	.|0.81	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	.|0.048957	.|0.85682	.|D	.|0.000000	.|T	.|0.52677	.|0.1749	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73380	.|0.98;0.98	.|T	.|0.45542	.|-0.9254	.|10	.|0.22109	.|T	.|0.4	-25.1548|-25.1548	10.6219|10.6219	0.45484|0.45484	0.1462:0.0:0.8538:0.0|0.1462:0.0:0.8538:0.0	.|.	.|325;154	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	X|H	295|325	.|ENSP00000315106:Q325H	.|ENSP00000315106:Q325H	E|Q	+|+	1|3	0|2	GPR137C|GPR137C	52170105|52170105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.136000|4.136000	0.58004|0.58004	1.486000|1.486000	0.48398|0.48398	0.655000|0.655000	0.94253|0.94253	GAG|CAG	.	.		0.358	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615	
DDHD1	80821	hgsc.bcm.edu	37	14	53521180	53521180	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:53521180T>A	ENST00000323669.5	-	11	2412	c.2413A>T	c.(2413-2415)Agt>Tgt	p.S805C	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Missense_Mutation_p.S805C|DDHD1_ENST00000395606.1_Missense_Mutation_p.S812C	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	805	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAGCCAGAACTGCTATGTGGA	0.423																																					p.S812C		Atlas-SNP	.											.	DDHD1	202	.	0			c.A2434T						.						206.0	154.0	171.0					14																	53521180		2203	4300	6503	SO:0001583	missense	80821	exon12			CAGAACTGCTATG	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2413A>T	chr14.hg19:g.53521180T>A	ENSP00000327104:p.Ser805Cys	218.0	0.0		134.0	65.0	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	hg19	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355968	0.61293	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.71	3.31	0.37934	DDHD (2);	0.306880	0.44688	D	0.000433	T	0.51975	0.1706	L	0.29908	0.895	0.37229	D	0.905598	P;P;P;P	0.50528	0.822;0.936;0.878;0.852	P;P;P;P	0.56343	0.645;0.694;0.796;0.584	T	0.57183	-0.7855	9	0.49607	T	0.09	-7.6271	9.9161	0.41434	0.0:0.1398:0.0:0.8602	.	201;812;805;805	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	C	805;812;805;676	.	ENSP00000327104:S805C	S	-	1	0	DDHD1	52590930	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	1.941000	0.40233	0.938000	0.37419	0.528000	0.53228	AGT	.	.		0.423	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
DDHD1	80821	hgsc.bcm.edu	37	14	53521253	53521253	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:53521253T>C	ENST00000323669.5	-	11	2339	c.2340A>G	c.(2338-2340)tcA>tcG	p.S780S	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000357758.3_Silent_p.S780S|DDHD1_ENST00000395606.1_Silent_p.S787S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	780	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CATCTTCCATTGAGTCTTTTG	0.468																																					p.S787S		Atlas-SNP	.											.	DDHD1	202	.	0			c.A2361G						.						240.0	172.0	195.0					14																	53521253		2203	4300	6503	SO:0001819	synonymous_variant	80821	exon12			TTCCATTGAGTCT	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2340A>G	chr14.hg19:g.53521253T>C		222.0	0.0		178.0	78.0	NM_001160147	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	hg19	CCDS53895.1																																																																																			.	.		0.468	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
C14orf105	55195	hgsc.bcm.edu	37	14	57960276	57960276	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:57960276T>C	ENST00000216445.3	-	1	294	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	C14orf105_ENST00000534126.1_Missense_Mutation_p.Q53R|C14orf105_ENST00000422976.2_Missense_Mutation_p.Q53R|C14orf105_ENST00000526336.1_Missense_Mutation_p.Q53R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	53										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GGCTTTATTCTGGTCCTGCAG	0.438																																					p.Q53R		Atlas-SNP	.											.	C14orf105	26	.	0			c.A158G						.						130.0	132.0	132.0					14																	57960276		2203	4300	6503	SO:0001583	missense	55195	exon1			TTATTCTGGTCCT	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.158A>G	chr14.hg19:g.57960276T>C	ENSP00000216445:p.Gln53Arg	43.0	0.0		47.0	20.0	NM_018168	Q53G04	Missense_Mutation	SNP	ENST00000216445.3	hg19	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	T	2.002	-0.429156	0.04701	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.16	-10.3	0.00346	.	0.855302	0.10195	N	0.704114	T	0.12646	0.0307	N	0.04203	-0.255	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.13407	0.009;0.001;0.001	T	0.16988	-1.0384	10	0.10636	T	0.68	1.6089	6.5085	0.22208	0.0867:0.0951:0.0869:0.7313	.	53;53;53	F5GWJ3;E9PSE9;Q9NVL8	.;.;CN105_HUMAN	R	53	ENSP00000216445:Q53R;ENSP00000392368:Q53R;ENSP00000434003:Q53R;ENSP00000436517:Q53R	ENSP00000216445:Q53R	Q	-	2	0	C14orf105	57030029	0.000000	0.05858	0.001000	0.08648	0.989000	0.77384	-2.572000	0.00912	-2.287000	0.00669	0.455000	0.32223	CAG	.	.		0.438	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168	
KIAA0586	9786	hgsc.bcm.edu	37	14	58924599	58924599	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:58924599A>G	ENST00000556134.1	+	12	1714	c.1440A>G	c.(1438-1440)caA>caG	p.Q480Q	KIAA0586_ENST00000261244.5_Silent_p.Q495Q|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.Q451Q|KIAA0586_ENST00000354386.6_Silent_p.Q548Q	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	480	Required for centrosomal localization. {ECO:0000250}.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGAGTACAAAACAATAAAA	0.363																																					p.Q548Q		Atlas-SNP	.											.	KIAA0586	180	.	0			c.A1644G						.						66.0	62.0	63.0					14																	58924599		1819	4074	5893	SO:0001819	synonymous_variant	9786	exon13			AGTACAAAACAAT	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1440A>G	chr14.hg19:g.58924599A>G		100.0	0.0		71.0	33.0	NM_001244189	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	hg19	CCDS58321.1																																																																																			.	.		0.363	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
MTHFD1	4522	hgsc.bcm.edu	37	14	64886605	64886605	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:64886605G>T	ENST00000545908.1	+	8	1086	c.857G>T	c.(856-858)gGg>gTg	p.G286V	MTHFD1_ENST00000216605.8_Missense_Mutation_p.G230V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	230	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ATCAAACCTGGGGCAATAGTC	0.473																																					p.G230V	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Atlas-SNP	.											.	MTHFD1	61	.	0			c.G689T						.						127.0	114.0	118.0					14																	64886605		2203	4300	6503	SO:0001583	missense	4522	exon8			AACCTGGGGCAAT	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.857G>T	chr14.hg19:g.64886605G>T	ENSP00000438588:p.Gly286Val	106.0	0.0		87.0	47.0	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	hg19		.	.	.	.	.	.	.	.	.	.	G	29.1	4.977851	0.92982	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.74	5.74	0.90152	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	H	0.99927	4.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.995;1.0	D	0.94492	0.7702	10	0.87932	D	0	-19.1945	18.1027	0.89510	0.0:0.0:1.0:0.0	.	286;230;230	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	V	286;230;286;210	ENSP00000438588:G286V;ENSP00000450560:G230V;ENSP00000216605:G286V;ENSP00000451309:G210V	ENSP00000216605:G230V	G	+	2	0	MTHFD1	63956358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	GGG	.	.		0.473	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
PLEK2	26499	hgsc.bcm.edu	37	14	67857415	67857415	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:67857415C>T	ENST00000216446.4	-	7	960	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	274	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AAAGCTGGATCCTTCCTTAGA	0.512																																					p.D274N		Atlas-SNP	.											.	PLEK2	23	.	0			c.G820A						.						215.0	183.0	194.0					14																	67857415		2203	4300	6503	SO:0001583	missense	26499	exon7			CTGGATCCTTCCT	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.820G>A	chr14.hg19:g.67857415C>T	ENSP00000216446:p.Asp274Asn	115.0	0.0		92.0	36.0	NM_016445	Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	hg19	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973162	0.74246	.	.	ENSG00000100558	ENST00000216446;ENST00000554395	T;T	0.30182	2.98;1.54	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.430079	0.28203	N	0.016213	T	0.29684	0.0741	L	0.42632	1.34	0.49798	D	0.999822	B	0.14012	0.009	B	0.23150	0.044	T	0.07028	-1.0794	10	0.15952	T	0.53	-23.8295	18.1919	0.89809	0.0:1.0:0.0:0.0	.	274	Q9NYT0	PLEK2_HUMAN	N	274;174	ENSP00000216446:D274N;ENSP00000450892:D174N	ENSP00000216446:D274N	D	-	1	0	PLEK2	66927168	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.172000	0.58243	2.724000	0.93272	0.555000	0.69702	GAT	.	.		0.512	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		
RAD51B	5890	hgsc.bcm.edu	37	14	68758622	68758622	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:68758622A>G	ENST00000487270.1	+	8	826	c.778A>G	c.(778-780)Aca>Gca	p.T260A	RAD51B_ENST00000471583.1_Missense_Mutation_p.T260A|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Missense_Mutation_p.T260A|RAD51B_ENST00000488612.1_Missense_Mutation_p.T260A|RAD51B_ENST00000390683.3_Missense_Mutation_p.T260A	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	260					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCAGATTACAACCCATCT	0.493								Direct reversal of damage																													p.T260A		Atlas-SNP	.											.	RAD51B	80	.	0			c.A778G						.						130.0	122.0	124.0					14																	68758622		2203	4300	6503	SO:0001583	missense	5890	exon8			CAGATTACAACCC	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.778A>G	chr14.hg19:g.68758622A>G	ENSP00000419471:p.Thr260Ala	47.0	0.0		44.0	20.0	NM_133509	O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	hg19	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363562	0.82353	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.57	5.57	0.84162	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.52532	D	0.000075	T	0.51500	0.1678	L	0.39692	1.235	0.32850	D	0.506519	P;D;D;D;D	0.76494	0.91;0.995;0.999;0.981;0.987	P;D;D;P;D	0.83275	0.74;0.91;0.996;0.814;0.944	T	0.63211	-0.6688	10	0.66056	D	0.02	-31.5054	14.606	0.68478	1.0:0.0:0.0:0.0	.	260;260;260;260;260	C9JYJ0;O15315-4;O15315;O15315-1;O15315-2	.;.;RA51B_HUMAN;.;.	A	260	ENSP00000419881:T260A;ENSP00000418859:T260A;ENSP00000419471:T260A;ENSP00000420061:T260A;ENSP00000375101:T260A	ENSP00000343531:T260A	T	+	1	0	RAD51B	67828375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.993000	0.70616	2.244000	0.73946	0.533000	0.62120	ACA	.	.		0.493	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1		
GALNT16	57452	hgsc.bcm.edu	37	14	69727044	69727044	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:69727044A>T	ENST00000337827.4	+	1	364	c.37A>T	c.(37-39)Acc>Tcc	p.T13S	GALNT16_ENST00000448469.3_Missense_Mutation_p.T13S|GALNT16_ENST00000554858.1_3'UTR|GALNT16_ENST00000553669.1_Missense_Mutation_p.T13S|RP11-363J20.2_ENST00000556316.1_lincRNA	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	13					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CGCCATCCTGACCGTAGCCTG	0.706																																					p.T13S		Atlas-SNP	.											.	GALNT16	8	.	0			c.A37T						.						95.0	72.0	80.0					14																	69727044		2203	4300	6503	SO:0001583	missense	57452	exon1			ATCCTGACCGTAG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.37A>T	chr14.hg19:g.69727044A>T	ENSP00000336729:p.Thr13Ser	68.0	0.0		49.0	26.0	NM_001168368	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	hg19	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017454	0.75161	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.56103	0.61;0.61;0.48	3.72	3.72	0.42706	.	0.172006	0.40144	N	0.001171	T	0.50820	0.1638	L	0.27053	0.805	0.52501	D	0.999955	D;D	0.63880	0.993;0.993	D;D	0.65443	0.935;0.935	T	0.47459	-0.9116	10	0.02654	T	1	.	12.513	0.56015	1.0:0.0:0.0:0.0	.	13;13	Q8N428;Q58A55	GLTL1_HUMAN;.	S	13	ENSP00000336729:T13S;ENSP00000402970:T13S;ENSP00000451200:T13S	ENSP00000336729:T13S	T	+	1	0	GALNTL1	68796797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.820000	0.69250	1.672000	0.50884	0.374000	0.22700	ACC	.	.		0.706	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
PLEKHD1	400224	hgsc.bcm.edu	37	14	69967307	69967307	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:69967307T>A	ENST00000322564.7	+	3	469	c.257T>A	c.(256-258)cTg>cAg	p.L86Q		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	86	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(1)|endometrium(1)|kidney(2)	4						GTCATCCCTCTGGGGGGCTGC	0.617																																					p.L86Q		Atlas-SNP	.											.	PLEKHD1	24	.	0			c.T257A						.						50.0	56.0	54.0					14																	69967307		692	1591	2283	SO:0001583	missense	400224	exon3			TCCCTCTGGGGGG	AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.257T>A	chr14.hg19:g.69967307T>A	ENSP00000317175:p.Leu86Gln	44.0	0.0		31.0	16.0	NM_001161498	B9EJC2	Missense_Mutation	SNP	ENST00000322564.7	hg19	CCDS53903.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887373	0.72410	.	.	ENSG00000175985	ENST00000322564	D	0.84146	-1.81	5.08	5.08	0.68730	.	.	.	.	.	D	0.93536	0.7937	M	0.91196	3.185	0.49915	D	0.999838	D	0.76494	0.999	D	0.87578	0.998	D	0.94733	0.7911	8	.	.	.	.	13.8502	0.63492	0.0:0.0:0.0:1.0	.	86	B9EJC2	.	Q	86	ENSP00000317175:L86Q	.	L	+	2	0	PLEKHD1	69037060	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	7.255000	0.78338	1.925000	0.55765	0.459000	0.35465	CTG	.	.		0.617	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412451.2	NM_001161498	
SIPA1L1	26037	hgsc.bcm.edu	37	14	72200517	72200517	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:72200517A>G	ENST00000555818.1	+	19	5407	c.5059A>G	c.(5059-5061)Aaa>Gaa	p.K1687E	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K1666E|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.K1141E|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K1666E|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1687					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGATGCTGCCAAAGCCTATGA	0.582																																					p.K1687E		Atlas-SNP	.											.	SIPA1L1	219	.	0			c.A5059G						.						87.0	68.0	74.0					14																	72200517		2203	4300	6503	SO:0001583	missense	26037	exon19			GCTGCCAAAGCCT	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5059A>G	chr14.hg19:g.72200517A>G	ENSP00000450832:p.Lys1687Glu	31.0	0.0		34.0	13.0	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028872	0.93518	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.09	5.09	0.68999	.	0.088505	0.85682	D	0.000000	T	0.57666	0.2069	L	0.61218	1.895	0.58432	D	0.999997	P;P;P;P;D	0.89917	0.792;0.789;0.955;0.885;1.0	B;P;P;P;D	0.87578	0.318;0.507;0.88;0.57;0.998	T	0.61118	-0.7127	10	0.66056	D	0.02	-23.3941	15.1848	0.72993	1.0:0.0:0.0:0.0	.	1141;1687;1141;1666;1687	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	E	1666;1687;1666;1141	ENSP00000370630:K1666E;ENSP00000450832:K1687E;ENSP00000351352:K1666E;ENSP00000440682:K1141E	ENSP00000351352:K1687E	K	+	1	0	SIPA1L1	71270270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.928000	0.70088	2.044000	0.60594	0.459000	0.35465	AAA	.	.		0.582	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
LTBP2	4053	hgsc.bcm.edu	37	14	75019087	75019087	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:75019087T>A	ENST00000261978.4	-	6	1588	c.1202A>T	c.(1201-1203)cAg>cTg	p.Q401L	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.Q401L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	401	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGGGGATCTGGCAGAAATC	0.622																																					p.Q401L		Atlas-SNP	.											.	LTBP2	158	.	0			c.A1202T						.						29.0	30.0	30.0					14																	75019087		2203	4300	6503	SO:0001583	missense	4053	exon6			GGGATCTGGCAGA		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1202A>T	chr14.hg19:g.75019087T>A	ENSP00000261978:p.Gln401Leu	26.0	0.0		23.0	12.0	NM_000428	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	hg19	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.213831	0.79352	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.32988	1.43;1.43	4.9	4.9	0.64082	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37906	N	0.001885	T	0.38506	0.1043	N	0.22421	0.69	0.34902	D	0.746568	D	0.64830	0.994	D	0.74348	0.983	T	0.46952	-0.9154	10	0.27082	T	0.32	.	13.127	0.59360	0.0:0.0:0.0:1.0	.	401	Q14767	LTBP2_HUMAN	L	401	ENSP00000261978:Q401L;ENSP00000451477:Q401L	ENSP00000261978:Q401L	Q	-	2	0	LTBP2	74088840	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.458000	0.66679	1.822000	0.53115	0.449000	0.29647	CAG	.	.		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
MLH3	27030	hgsc.bcm.edu	37	14	75516322	75516322	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:75516322A>G	ENST00000556740.1	-	1	72	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Silent_p.L13L|MLH3_ENST00000556257.1_Silent_p.L13L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Silent_p.L13L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	13					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCAGAACGCAATTTGGCTTGT	0.463								Mismatch excision repair (MMR)																													p.L13L		Atlas-SNP	.											.	MLH3	200	.	0			c.T37C						.						56.0	53.0	54.0					14																	75516322		2203	4300	6503	SO:0001819	synonymous_variant	27030	exon2			AACGCAATTTGGC	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.37T>C	chr14.hg19:g.75516322A>G		79.0	0.0		64.0	36.0	NM_014381	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	hg19	CCDS32123.1																																																																																			.	.		0.463	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
FOS	2353	hgsc.bcm.edu	37	14	75747981	75747981	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:75747981A>T	ENST00000303562.4	+	4	1206	c.997A>T	c.(997-999)Agc>Tgc	p.S333C	FOS_ENST00000535987.1_Missense_Mutation_p.S297C|FOS_ENST00000555686.1_Missense_Mutation_p.S219C|FOS_ENST00000555347.1_Missense_Mutation_p.S185C	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	333					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CTGTACTCCCAGCTGCACTGC	0.637																																					p.S333C		Atlas-SNP	.											.	FOS	30	.	0			c.A997T						.						77.0	81.0	79.0					14																	75747981		2203	4300	6503	SO:0001583	missense	2353	exon4			ACTCCCAGCTGCA	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.997A>T	chr14.hg19:g.75747981A>T	ENSP00000306245:p.Ser333Cys	39.0	0.0		34.0	16.0	NM_005252	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	hg19	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	A	7.828	0.719199	0.15372	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.67345	0.3;0.74;-0.26	5.51	3.1	0.35709	.	0.642369	0.17200	N	0.183154	T	0.45756	0.1358	N	0.16368	0.405	0.27049	N	0.963831	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34054	-0.9844	10	0.48119	T	0.1	-28.1479	5.1648	0.15079	0.688:0.0:0.149:0.163	.	297;333	B4DQ65;P01100	.;FOS_HUMAN	C	333;297;219;185	ENSP00000306245:S333C;ENSP00000442268:S297C;ENSP00000452590:S219C	ENSP00000306245:S333C	S	+	1	0	FOS	74817734	0.806000	0.28996	0.993000	0.49108	0.869000	0.49853	1.398000	0.34554	0.365000	0.24400	-0.371000	0.07208	AGC	.	.		0.637	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252	
SAMD15	161394	hgsc.bcm.edu	37	14	77844096	77844096	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:77844096C>G	ENST00000216471.4	+	1	621	c.335C>G	c.(334-336)tCc>tGc	p.S112C	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	112										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGAAACATCCAGAGAGATG	0.498																																					p.S112C		Atlas-SNP	.											.	SAMD15	60	.	0			c.C335G						.						146.0	158.0	154.0					14																	77844096		2203	4300	6503	SO:0001583	missense	161394	exon1			AAACATCCAGAGA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.335C>G	chr14.hg19:g.77844096C>G	ENSP00000216471:p.Ser112Cys	85.0	0.0		61.0	24.0	NM_001010860	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	hg19	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921277	0.33908	.	.	ENSG00000100583	ENST00000216471	T	0.35605	1.3	4.82	-3.41	0.04839	.	3.816370	0.01056	N	0.004544	T	0.32194	0.0821	L	0.40543	1.245	0.09310	N	1	P	0.52316	0.952	P	0.44447	0.45	T	0.41840	-0.9486	10	0.54805	T	0.06	11.1824	6.8559	0.24040	0.1277:0.2842:0.0:0.5881	.	112	Q9P1V8	SAM15_HUMAN	C	112	ENSP00000216471:S112C	ENSP00000216471:S112C	S	+	2	0	SAMD15	76913849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.355000	0.07671	-0.776000	0.04578	-0.349000	0.07799	TCC	.	.		0.498	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
FLRT2	23768	hgsc.bcm.edu	37	14	86089087	86089087	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:86089087A>G	ENST00000330753.4	+	2	1996	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	FLRT2_ENST00000554746.1_Missense_Mutation_p.D410G	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	410					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGATTCCTGACTGGGATGGC	0.507																																					p.D410G		Atlas-SNP	.											.	FLRT2	168	.	0			c.A1229G						.						71.0	72.0	71.0					14																	86089087		2203	4300	6503	SO:0001583	missense	23768	exon2			TTCCTGACTGGGA	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1229A>G	chr14.hg19:g.86089087A>G	ENSP00000332879:p.Asp410Gly	211.0	0.0		189.0	75.0	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	hg19	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312314	0.23908	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56776	0.44;0.44	6.17	5.02	0.67125	.	0.529823	0.22337	N	0.061396	T	0.32346	0.0826	N	0.08118	0	0.32321	N	0.562389	B	0.19817	0.039	B	0.15052	0.012	T	0.30268	-0.9984	10	0.22109	T	0.4	-11.0571	13.779	0.63071	0.872:0.1279:0.0:0.0	.	410	O43155	FLRT2_HUMAN	G	410;410;63	ENSP00000332879:D410G;ENSP00000451050:D410G	ENSP00000332879:D410G	D	+	2	0	FLRT2	85158840	0.986000	0.35501	0.587000	0.28692	0.981000	0.71138	1.821000	0.39041	1.132000	0.42129	0.533000	0.62120	GAC	.	.		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
GALC	2581	hgsc.bcm.edu	37	14	88401194	88401194	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:88401194T>A	ENST00000261304.2	-	17	2046	c.1940A>T	c.(1939-1941)gAc>gTc	p.D647V	GALC_ENST00000393568.4_Missense_Mutation_p.D624V|GALC_ENST00000393569.2_Missense_Mutation_p.D621V|GALC_ENST00000544807.2_Intron	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	647					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGAGACTTGTCATTCAGCAT	0.413																																					p.D647V		Atlas-SNP	.											.	GALC	48	.	0			c.A1940T						.						81.0	78.0	79.0					14																	88401194		1893	4122	6015	SO:0001583	missense	2581	exon17			GACTTGTCATTCA	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1940A>T	chr14.hg19:g.88401194T>A	ENSP00000261304:p.Asp647Val	70.0	0.0		61.0	21.0	NM_000153	B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	hg19	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686075	0.29962	.	.	ENSG00000054983	ENST00000261304;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D	0.93547	-3.24;-3.24;-3.24	5.53	0.779	0.18550	.	0.296256	0.42053	D	0.000772	D	0.89022	0.6597	L	0.36672	1.1	0.45676	D	0.998593	B;B;B	0.30741	0.293;0.134;0.283	B;B;B	0.34652	0.187;0.137;0.187	D	0.84382	0.0550	10	0.87932	D	0	-4.3802	11.2612	0.49085	0.0:0.7239:0.0:0.2761	.	624;621;647	E7EPA4;P54803-4;P54803	.;.;GALC_HUMAN	V	647;621;436;624	ENSP00000261304:D647V;ENSP00000377199:D621V;ENSP00000377198:D624V	ENSP00000261304:D647V	D	-	2	0	GALC	87470947	0.997000	0.39634	0.429000	0.26710	0.392000	0.30506	2.003000	0.40844	0.162000	0.19483	-0.297000	0.09499	GAC	.	.		0.413	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2		
GPR65	8477	hgsc.bcm.edu	37	14	88478190	88478190	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:88478190A>T	ENST00000267549.3	+	2	1557	c.999A>T	c.(997-999)ttA>ttT	p.L333F	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	333					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTATGGAATTAGAGGTCCTTG	0.328																																					p.L333F		Atlas-SNP	.											.	GPR65	48	.	0			c.A999T						.						53.0	55.0	54.0					14																	88478190		2201	4299	6500	SO:0001583	missense	8477	exon2			GGAATTAGAGGTC	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.999A>T	chr14.hg19:g.88478190A>T	ENSP00000267549:p.Leu333Phe	92.0	0.0		80.0	37.0	NM_003608	O75819	Missense_Mutation	SNP	ENST00000267549.3	hg19	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554486	0.65425	.	.	ENSG00000140030	ENST00000267549	T	0.61158	0.13	5.64	4.47	0.54385	.	0.825823	0.10172	N	0.707050	T	0.56321	0.1977	N	0.08118	0	0.33381	D	0.574897	D	0.89917	1.0	D	0.83275	0.996	T	0.57124	-0.7865	10	0.32370	T	0.25	.	9.6499	0.39890	0.9188:0.0:0.0812:0.0	.	333	Q8IYL9	PSYR_HUMAN	F	333	ENSP00000267549:L333F	ENSP00000267549:L333F	L	+	3	2	GPR65	87547943	1.000000	0.71417	0.976000	0.42696	0.955000	0.61496	1.420000	0.34804	0.931000	0.37242	0.528000	0.53228	TTA	.	.		0.328	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
KCNK10	54207	hgsc.bcm.edu	37	14	88707163	88707163	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:88707163T>C	ENST00000340700.5	-	3	840	c.389A>G	c.(388-390)cAt>cGt	p.H130R	KCNK10_ENST00000312350.5_Splice_Site_p.H135R|KCNK10_ENST00000319231.5_Splice_Site_p.H135R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	130					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ATCAAGAGCATGCTGCAAAGA	0.398																																					p.H135R		Atlas-SNP	.											.	KCNK10	273	.	0			c.A404G						.						76.0	69.0	72.0					14																	88707163		2203	4300	6503	SO:0001630	splice_region_variant	54207	exon3			AGAGCATGCTGCA	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.388-1A>G	chr14.hg19:g.88707163T>C		25.0	0.0		32.0	19.0	NM_138318	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	hg19	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565038	0.27915	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.90732	-2.71;-2.72;-2.72;1.0	6.03	6.03	0.97812	.	0.050045	0.85682	D	0.000000	T	0.81735	0.4885	N	0.22421	0.69	0.51012	D	0.999904	B;B;B	0.14012	0.009;0.002;0.002	B;B;B	0.17979	0.02;0.013;0.006	T	0.74565	-0.3623	10	0.13853	T	0.58	.	8.5531	0.33465	0.0:0.1434:0.0:0.8566	.	130;135;135	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	R	130;135;135;118	ENSP00000343104:H130R;ENSP00000310568:H135R;ENSP00000312811:H135R;ENSP00000452587:H118R	ENSP00000310568:H135R	H	-	2	0	KCNK10	87776916	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.819000	0.62664	2.308000	0.77769	0.533000	0.62120	CAT	.	.		0.398	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	Missense_Mutation
ZC3H14	79882	hgsc.bcm.edu	37	14	89044335	89044335	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:89044335A>C	ENST00000251038.5	+	9	1355	c.1130A>C	c.(1129-1131)cAg>cCg	p.Q377P	ZC3H14_ENST00000555755.1_Missense_Mutation_p.Q377P|ZC3H14_ENST00000557607.1_Missense_Mutation_p.Q222P|ZC3H14_ENST00000393514.5_Missense_Mutation_p.Q377P|ZC3H14_ENST00000359301.3_Missense_Mutation_p.Q343P|ZC3H14_ENST00000302216.8_Missense_Mutation_p.Q377P|ZC3H14_ENST00000336693.4_Missense_Mutation_p.Q343P|ZC3H14_ENST00000556945.1_Missense_Mutation_p.Q377P|ZC3H14_ENST00000557605.1_3'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	377						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AAAGTTCCACAGAAACAGACA	0.398																																					p.Q377P		Atlas-SNP	.											.	ZC3H14	71	.	0			c.A1130C						.						94.0	99.0	97.0					14																	89044335		2203	4300	6503	SO:0001583	missense	79882	exon9			TTCCACAGAAACA	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1130A>C	chr14.hg19:g.89044335A>C	ENSP00000251038:p.Gln377Pro	331.0	0.0		255.0	96.0	NM_001160104	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	hg19	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756835	0.69648	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.51	5.51	0.81932	.	0.057130	0.64402	D	0.000001	T	0.75199	0.3817	M	0.68952	2.095	0.46586	D	0.999116	D;B;D;D;B;D	0.76494	0.999;0.023;0.999;0.999;0.021;0.999	D;B;D;D;B;D	0.76575	0.977;0.015;0.951;0.988;0.013;0.988	T	0.76299	-0.3010	9	0.51188	T	0.08	-2.4362	11.2029	0.48751	0.8469:0.1531:0.0:0.0	.	377;358;377;377;377;377	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	P	377;377;377;343;377;358;377;222;377;377;343	.	ENSP00000251038:Q377P	Q	+	2	0	ZC3H14	88114088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.323000	0.65858	2.218000	0.71995	0.528000	0.53228	CAG	.	.		0.398	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
KCNK13	56659	hgsc.bcm.edu	37	14	90650791	90650791	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:90650791A>T	ENST00000282146.4	+	2	1112	c.671A>T	c.(670-672)tAc>tTc	p.Y224F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	224					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCTGGAGCTACTTTGACTCA	0.537																																					p.Y224F		Atlas-SNP	.											.	KCNK13	76	.	0			c.A671T						.						158.0	136.0	143.0					14																	90650791		2203	4300	6503	SO:0001583	missense	56659	exon2			GGAGCTACTTTGA	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.671A>T	chr14.hg19:g.90650791A>T	ENSP00000282146:p.Tyr224Phe	105.0	0.0		92.0	39.0	NM_022054	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	hg19	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980554	0.74474	.	.	ENSG00000152315	ENST00000282146	T	0.23147	1.92	5.31	4.13	0.48395	Ion transport 2 (1);	0.000000	0.37437	N	0.002088	T	0.41373	0.1156	L	0.49571	1.57	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.07927	-1.0747	10	0.27082	T	0.32	.	11.3329	0.49487	0.8636:0.0:0.0:0.1364	.	224	Q9HB14	KCNKD_HUMAN	F	224	ENSP00000282146:Y224F	ENSP00000282146:Y224F	Y	+	2	0	KCNK13	89720544	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.102000	0.71486	0.811000	0.34303	0.533000	0.62120	TAC	.	.		0.537	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
FAM181A	90050	hgsc.bcm.edu	37	14	94395161	94395161	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:94395161T>A	ENST00000267594.5	+	3	1023	c.716T>A	c.(715-717)cTg>cAg	p.L239Q	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Missense_Mutation_p.L177Q|FAM181A_ENST00000556222.1_Missense_Mutation_p.L177Q|FAM181A_ENST00000557000.2_Missense_Mutation_p.L177Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	239										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TTGGAGCCCCTGGGACCTGAG	0.632																																					p.L239Q		Atlas-SNP	.											.	FAM181A	42	.	0			c.T716A						.						42.0	41.0	42.0					14																	94395161		2203	4300	6503	SO:0001583	missense	90050	exon3			AGCCCCTGGGACC	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.716T>A	chr14.hg19:g.94395161T>A	ENSP00000267594:p.Leu239Gln	42.0	0.0		22.0	15.0	NM_138344	B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	hg19	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336830	0.24253	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.34	4.74	3.6	0.41247	.	1.301940	0.05701	N	0.594008	T	0.40247	0.1109	L	0.51422	1.61	0.09310	N	1	P	0.44946	0.846	P	0.44990	0.466	T	0.32561	-0.9902	10	0.87932	D	0	-3.0385	7.8741	0.29584	0.0:0.2012:0.0:0.7988	.	239	Q8N9Y4	F181A_HUMAN	Q	177;239;177;177;228	ENSP00000451802:L177Q;ENSP00000267594:L239Q;ENSP00000451678:L177Q;ENSP00000452393:L177Q;ENSP00000451445:L228Q	ENSP00000267594:L239Q	L	+	2	0	FAM181A	93464914	0.000000	0.05858	0.751000	0.31187	0.325000	0.28411	0.147000	0.16202	1.784000	0.52394	0.459000	0.35465	CTG	.	.		0.632	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
AHNAK2	113146	hgsc.bcm.edu	37	14	105413692	105413692	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:105413692T>A	ENST00000333244.5	-	7	8215	c.8096A>T	c.(8095-8097)cAg>cTg	p.Q2699L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2699						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGGGGGGCTGAATGCTGAT	0.622																																					p.Q2699L		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A8096T						.						147.0	162.0	157.0					14																	105413692		1985	4165	6150	SO:0001583	missense	113146	exon7			GGGGGCTGAATGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8096A>T	chr14.hg19:g.105413692T>A	ENSP00000353114:p.Gln2699Leu	214.0	0.0		120.0	49.0	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	12.02	1.813201	0.32053	.	.	ENSG00000185567	ENST00000333244	T	0.01572	4.76	3.47	0.681	0.17986	.	.	.	.	.	T	0.07593	0.0191	M	0.76838	2.35	0.09310	N	1	D	0.63046	0.992	D	0.72982	0.979	T	0.17653	-1.0362	9	0.40728	T	0.16	-16.6091	7.0504	0.25069	0.0:0.0:0.4722:0.5278	.	2699	Q8IVF2	AHNK2_HUMAN	L	2699	ENSP00000353114:Q2699L	ENSP00000353114:Q2699L	Q	-	2	0	AHNAK2	104484737	0.005000	0.15991	0.001000	0.08648	0.014000	0.08584	0.018000	0.13422	0.233000	0.21120	0.254000	0.18369	CAG	.	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	hgsc.bcm.edu	37	14	105420987	105420987	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:105420987T>C	ENST00000333244.5	-	7	920	c.801A>G	c.(799-801)atA>atG	p.I267M	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	267						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTGCTCTTTATGGATTGAA	0.577																																					p.I267M		Atlas-SNP	.											.	AHNAK2	719	.	0			c.A801G						.						29.0	31.0	30.0					14																	105420987		1913	4116	6029	SO:0001583	missense	113146	exon7			GCTCTTTATGGAT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.801A>G	chr14.hg19:g.105420987T>C	ENSP00000353114:p.Ile267Met	48.0	0.0		24.0	19.0	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	14.58	2.576992	0.45902	.	.	ENSG00000185567	ENST00000333244	T	0.03386	3.95	5.23	-10.5	0.00291	.	0.764756	0.10362	U	0.683829	T	0.03220	0.0094	L	0.53249	1.67	0.09310	N	1	B	0.25955	0.138	B	0.24701	0.055	T	0.21109	-1.0255	10	0.66056	D	0.02	.	5.7909	0.18359	0.1448:0.4862:0.2906:0.0785	.	267	Q8IVF2	AHNK2_HUMAN	M	267	ENSP00000353114:I267M	ENSP00000353114:I267M	I	-	3	3	AHNAK2	104492032	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.472000	0.00989	-3.002000	0.00275	0.528000	0.53228	ATA	.	.		0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
NPAP1	23742	hgsc.bcm.edu	37	15	24923872	24923872	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:24923872C>A	ENST00000329468.2	+	1	3332	c.2858C>A	c.(2857-2859)aCt>aAt	p.T953N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	953					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCACCATATACTGCATTGGGC	0.483																																					p.T953N		Atlas-SNP	.											.	.	.	.	0			c.C2858A						.						78.0	79.0	79.0					15																	24923872		2203	4300	6503	SO:0001583	missense	23742	exon1			CATATACTGCATT	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2858C>A	chr15.hg19:g.24923872C>A	ENSP00000333735:p.Thr953Asn	54.0	0.0		42.0	22.0	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	hg19	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.390	1.075291	0.20227	.	.	ENSG00000185823	ENST00000329468	T	0.06218	3.33	2.04	2.04	0.26737	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36163	-0.9759	9	0.62326	D	0.03	.	7.595	0.28044	0.0:1.0:0.0:0.0	.	953	Q9NZP6	CO002_HUMAN	N	953	ENSP00000333735:T953N	ENSP00000333735:T953N	T	+	2	0	C15orf2	22474965	0.001000	0.12720	0.001000	0.08648	0.173000	0.22820	1.296000	0.33389	1.443000	0.47586	0.313000	0.20887	ACT	.	.		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
GABRG3	2567	hgsc.bcm.edu	37	15	27777744	27777744	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:27777744A>T	ENST00000333743.6	+	10	1376		c.e10-1		RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTGCTTGCAGAACTATTCC	0.408																																					.	NSCLC(114;800 1656 7410 37729 45293)	Atlas-SNP	.											.	GABRG3	115	.	0			c.1123-2A>T						.						83.0	80.0	81.0					15																	27777744		1972	4161	6133	SO:0001630	splice_region_variant	2567	exon10			GCTTGCAGAACTA		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1123-1A>T	chr15.hg19:g.27777744A>T		72.0	0.0		57.0	29.0	NM_033223	G3V594|Q9HD46|Q9NYT2	Splice_Site	SNP	ENST00000333743.6	hg19	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794589	0.70452	.	.	ENSG00000182256	ENST00000333743	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4129	0.74941	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GABRG3	25451339	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	8.906000	0.92626	2.237000	0.73441	0.528000	0.53228	.	.	.		0.408	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		Intron
FAN1	22909	hgsc.bcm.edu	37	15	31197069	31197069	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:31197069A>T	ENST00000362065.4	+	2	494	c.203A>T	c.(202-204)gAc>gTc	p.D68V	FAN1_ENST00000561607.1_Missense_Mutation_p.D68V|FAN1_ENST00000561594.1_Missense_Mutation_p.D68V|FAN1_ENST00000565466.1_Missense_Mutation_p.D68V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	68					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCTAACAATGACTTCGTTCAA	0.418								Direct reversal of damage																													p.D68V		Atlas-SNP	.											.	FAN1	77	.	0			c.A203T						.						83.0	82.0	82.0					15																	31197069		2202	4300	6502	SO:0001583	missense	22909	exon2			ACAATGACTTCGT		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.203A>T	chr15.hg19:g.31197069A>T	ENSP00000354497:p.Asp68Val	140.0	0.0		157.0	63.0	NM_001146095	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	hg19	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961488	0.53400	.	.	ENSG00000198690	ENST00000362065	T	0.80994	-1.44	5.15	1.5	0.22942	.	0.876889	0.09872	N	0.744753	T	0.76314	0.3970	L	0.36672	1.1	0.09310	N	0.999999	P;D	0.53151	0.651;0.958	B;P	0.48704	0.109;0.587	T	0.63180	-0.6695	10	0.42905	T	0.14	-6.6987	9.1715	0.37083	0.7031:0.0:0.2969:0.0	.	68;68	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	V	68	ENSP00000354497:D68V	ENSP00000354497:D68V	D	+	2	0	FAN1	28984361	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.241000	0.18065	0.061000	0.16311	0.374000	0.22700	GAC	.	.		0.418	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
FMN1	342184	hgsc.bcm.edu	37	15	33091016	33091016	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:33091016T>C	ENST00000559047.1	-	16	4118	c.4119A>G	c.(4117-4119)atA>atG	p.I1373M	FMN1_ENST00000561249.1_Missense_Mutation_p.I1275M|FMN1_ENST00000334528.9_Missense_Mutation_p.I1150M			Q68DA7	FMN1_HUMAN	formin 1	1373	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTTCTTTAGATATGTTTTTAC	0.403																																					p.I1150M		Atlas-SNP	.											.	FMN1	174	.	0			c.A3450G						.						124.0	111.0	115.0					15																	33091016		1833	4087	5920	SO:0001583	missense	342184	exon15			TTTAGATATGTTT	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4119A>G	chr15.hg19:g.33091016T>C	ENSP00000454047:p.Ile1373Met	77.0	0.0		62.0	27.0	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	hg19		.	.	.	.	.	.	.	.	.	.	T	13.63	2.295018	0.40594	.	.	ENSG00000248905	ENST00000334528	T	0.63255	-0.03	6.08	2.37	0.29283	.	0.144593	0.64402	D	0.000009	T	0.67767	0.2928	L	0.59436	1.845	.	.	.	D	0.53885	0.963	P	0.62813	0.907	T	0.72516	-0.4269	9	0.46703	T	0.11	.	5.8974	0.18947	0.2228:0.0:0.3433:0.4339	.	1150	Q68DA7-5	.	M	1150	ENSP00000333950:I1150M	ENSP00000333950:I1150M	I	-	3	3	FMN1	30878308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.978000	0.40598	1.095000	0.41419	0.533000	0.62120	ATA	.	.		0.403	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	hgsc.bcm.edu	37	15	33954785	33954785	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:33954785A>T	ENST00000389232.4	+	35	5124	c.5054A>T	c.(5053-5055)gAg>gTg	p.E1685V	RYR3_ENST00000415757.3_Missense_Mutation_p.E1685V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1685	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGAGCCCCGAGATTCCCTTG	0.597																																					p.E1685V		Atlas-SNP	.											.	RYR3	760	.	0			c.A5054T						.						70.0	74.0	73.0					15																	33954785		1994	4170	6164	SO:0001583	missense	6263	exon35			GCCCCGAGATTCC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5054A>T	chr15.hg19:g.33954785A>T	ENSP00000373884:p.Glu1685Val	81.0	0.0		74.0	35.0	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	8.686	0.906304	0.17760	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74315	-0.83;-0.83	5.41	5.41	0.78517	.	0.134088	0.51477	D	0.000094	T	0.64046	0.2563	N	0.17082	0.46	0.37874	D	0.930152	B;P	0.46578	0.045;0.88	B;P	0.47786	0.023;0.557	T	0.66368	-0.5941	10	0.30078	T	0.28	.	10.7948	0.46453	0.8589:0.0:0.0:0.1411	.	1685;1685	Q15413-2;Q15413	.;RYR3_HUMAN	V	1685	ENSP00000373884:E1685V;ENSP00000399610:E1685V	ENSP00000354735:E1685V	E	+	2	0	RYR3	31742077	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.092000	0.76930	2.281000	0.76405	0.533000	0.62120	GAG	.	.		0.597	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	hgsc.bcm.edu	37	15	34080457	34080457	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:34080457C>G	ENST00000389232.4	+	67	9698	c.9628C>G	c.(9628-9630)Ctg>Gtg	p.L3210V	RYR3_ENST00000415757.3_Missense_Mutation_p.L3210V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3210					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGCCCGACCTGCTGAGAAG	0.502																																					p.L3210V		Atlas-SNP	.											.	RYR3	760	.	0			c.C9628G						.						109.0	116.0	114.0					15																	34080457		2010	4201	6211	SO:0001583	missense	6263	exon67			CCCGACCTGCTGA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9628C>G	chr15.hg19:g.34080457C>G	ENSP00000373884:p.Leu3210Val	99.0	0.0		95.0	47.0	NM_001243996	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509343	0.64522	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97430	-4.37;-4.38	4.55	3.63	0.41609	.	0.000000	0.64402	D	0.000007	D	0.98090	0.9370	M	0.83603	2.65	0.47621	D	0.999474	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	D	0.98262	1.0499	10	0.72032	D	0.01	.	10.2646	0.43447	0.0:0.839:0.0:0.161	.	3210;3210	Q15413-2;Q15413	.;RYR3_HUMAN	V	3210	ENSP00000373884:L3210V;ENSP00000399610:L3210V	ENSP00000354735:L3210V	L	+	1	2	RYR3	31867749	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.856000	0.55964	1.274000	0.44362	-0.136000	0.14681	CTG	.	.		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	hgsc.bcm.edu	37	15	34105180	34105180	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:34105180C>T	ENST00000389232.4	+	73	10444	c.10374C>T	c.(10372-10374)gtC>gtT	p.V3458V	RYR3_ENST00000415757.3_Silent_p.V3453V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3458					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCAGCTGTCTTCCACCTGG	0.493																																					p.V3458V		Atlas-SNP	.											.	RYR3	760	.	0			c.C10374T						.						75.0	75.0	75.0					15																	34105180		1962	4152	6114	SO:0001819	synonymous_variant	6263	exon73			AGCTGTCTTCCAC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10374C>T	chr15.hg19:g.34105180C>T		65.0	0.0		57.0	36.0	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	hg19	CCDS45210.1																																																																																			.	.		0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RASGRP1	10125	hgsc.bcm.edu	37	15	38804991	38804991	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:38804991A>G	ENST00000310803.5	-	7	1019	c.842T>C	c.(841-843)gTg>gCg	p.V281A	RASGRP1_ENST00000558164.1_Missense_Mutation_p.V281A|RASGRP1_ENST00000561180.1_Missense_Mutation_p.V332A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.V233A|RASGRP1_ENST00000450598.2_Missense_Mutation_p.V281A|RASGRP1_ENST00000559830.1_Missense_Mutation_p.V281A	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	281	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CACCTGAGCCACCTGGATGAA	0.478																																					p.V281A		Atlas-SNP	.											.	RASGRP1	50	.	0			c.T842C						.						52.0	57.0	55.0					15																	38804991		2000	4168	6168	SO:0001583	missense	10125	exon7			TGAGCCACCTGGA	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.842T>C	chr15.hg19:g.38804991A>G	ENSP00000310244:p.Val281Ala	78.0	0.0		68.0	27.0	NM_001128602	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	hg19	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600388	0.87055	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.21	5.21	0.72293	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.90483	3.12	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.80764	0.992;0.991;0.994;0.99	T	0.77996	-0.2377	10	0.87932	D	0	-22.0175	15.2514	0.73549	1.0:0.0:0.0:0.0	.	281;281;281;281	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	A	281;281;281;281;233;281;281	ENSP00000310244:V281A;ENSP00000388540:V281A;ENSP00000444762:V233A;ENSP00000413105:V281A	ENSP00000310244:V281A	V	-	2	0	RASGRP1	36592283	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.139000	0.94554	2.189000	0.69895	0.528000	0.53228	GTG	.	.		0.478	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
BUB1B	701	hgsc.bcm.edu	37	15	40491906	40491906	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:40491906A>T	ENST00000287598.6	+	10	1574	c.1379A>T	c.(1378-1380)cAg>cTg	p.Q460L	BUB1B_ENST00000412359.3_Missense_Mutation_p.Q474L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	460					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAACTACTCAGCAAGAAAGA	0.323			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.Q460L		Atlas-SNP	.	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	BUB1B	71	.	0			c.A1379T						.						111.0	118.0	116.0					15																	40491906		2203	4300	6503	SO:0001583	missense	701	exon10	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	CTACTCAGCAAGA	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1379A>T	chr15.hg19:g.40491906A>T	ENSP00000287598:p.Gln460Leu	320.0	0.0		285.0	122.0	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	hg19	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243663	0.79912	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.44881	0.91;0.91	5.48	5.48	0.80851	.	0.251821	0.34460	N	0.003949	T	0.54598	0.1868	M	0.62723	1.935	0.30493	N	0.771224	D;D	0.62365	0.991;0.965	P;P	0.59424	0.857;0.65	T	0.61168	-0.7117	10	0.56958	D	0.05	-11.8265	9.7305	0.40359	0.9221:0.0:0.0779:0.0	.	474;460	O60566-3;O60566	.;BUB1B_HUMAN	L	460;474;406	ENSP00000287598:Q460L;ENSP00000398470:Q474L	ENSP00000287598:Q460L	Q	+	2	0	BUB1B	38279198	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.825000	0.48096	2.073000	0.62155	0.533000	0.62120	CAG	.	.		0.323	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
PLCB2	5330	hgsc.bcm.edu	37	15	40591344	40591344	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:40591344T>A	ENST00000260402.3	-	8	917	c.668A>T	c.(667-669)gAg>gTg	p.E223V	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.E223V|PLCB2_ENST00000456256.2_Missense_Mutation_p.E223V	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	223					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGTGAAGATCTCATCTATTTC	0.512																																					p.E223V		Atlas-SNP	.											.	PLCB2	177	.	0			c.A668T						.						104.0	110.0	108.0					15																	40591344		2001	4164	6165	SO:0001583	missense	5330	exon8			AAGATCTCATCTA		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.668A>T	chr15.hg19:g.40591344T>A	ENSP00000260402:p.Glu223Val	71.0	0.0		43.0	18.0	NM_004573	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	hg19	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091549	0.76756	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.20069	2.1;2.1	5.51	5.51	0.81932	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.052187	0.85682	D	0.000000	T	0.46347	0.1388	M	0.72118	2.19	0.80722	D	1	D;P;P	0.89917	1.0;0.865;0.594	D;P;P	0.80764	0.994;0.506;0.472	T	0.42732	-0.9434	10	0.52906	T	0.07	.	15.6206	0.76802	0.0:0.0:0.0:1.0	.	223;223;223	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	V	223	ENSP00000260402:E223V;ENSP00000411991:E223V	ENSP00000260402:E223V	E	-	2	0	PLCB2	38378636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.751000	0.68720	2.080000	0.62538	0.533000	0.62120	GAG	.	.		0.512	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
DISP2	85455	hgsc.bcm.edu	37	15	40660858	40660858	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:40660858A>T	ENST00000267889.3	+	8	2632	c.2545A>T	c.(2545-2547)Agc>Tgc	p.S849C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	849					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGAGAGCCCCAGCTGCGCCCG	0.652																																					p.S849C		Atlas-SNP	.											.	DISP2	86	.	0			c.A2545T						.						18.0	21.0	20.0					15																	40660858		2201	4297	6498	SO:0001583	missense	85455	exon8			AGCCCCAGCTGCG	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2545A>T	chr15.hg19:g.40660858A>T	ENSP00000267889:p.Ser849Cys	28.0	0.0		33.0	14.0	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	hg19	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	1.930	-0.446243	0.04604	.	.	ENSG00000140323	ENST00000267889	T	0.11712	2.75	4.99	-7.01	0.01594	.	1.052620	0.07293	N	0.872860	T	0.07324	0.0185	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.33497	-0.9866	10	0.37606	T	0.19	-0.0026	13.1494	0.59480	0.675:0.2049:0.1201:0.0	.	849	A7MBM2	DISP2_HUMAN	C	849	ENSP00000267889:S849C	ENSP00000267889:S849C	S	+	1	0	DISP2	38448150	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	0.279000	0.18771	-1.935000	0.01049	-2.025000	0.00428	AGC	.	.		0.652	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
PLA2G4B	100137049	hgsc.bcm.edu	37	15	42134021	42134021	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:42134021A>T	ENST00000452633.1	+	9	847	c.495A>T	c.(493-495)tcA>tcT	p.S165S	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.S396S|PLA2G4B_ENST00000458483.1_Silent_p.S165S|PLA2G4B_ENST00000542534.2_Silent_p.S396S|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.S396S			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	165					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTCCAGCCTCAGAGCACAGAG	0.642																																					p.S396S		Atlas-SNP	.											.	JMJD7-PLA2G4B	90	.	0			c.A1188T						.						34.0	33.0	33.0					15																	42134021		2203	4300	6503	SO:0001819	synonymous_variant	8681	exon13			AGCCTCAGAGCAC	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.495A>T	chr15.hg19:g.42134021A>T		77.0	0.0		78.0	35.0	NM_005090	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	ENST00000452633.1	hg19	CCDS45241.1																																																																																			.	.		0.642	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	
PLA2G4D	283748	hgsc.bcm.edu	37	15	42364510	42364510	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:42364510A>G	ENST00000290472.3	-	14	1492	c.1398T>C	c.(1396-1398)aaT>aaC	p.N466N		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	466	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCTCTTTGACATTGAGGCTCA	0.577																																					p.N466N		Atlas-SNP	.											.	PLA2G4D	72	.	0			c.T1398C						.						198.0	187.0	191.0					15																	42364510		2203	4299	6502	SO:0001819	synonymous_variant	283748	exon14			TTTGACATTGAGG	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1398T>C	chr15.hg19:g.42364510A>G		51.0	0.0		42.0	20.0	NM_178034	Q8N176	Silent	SNP	ENST00000290472.3	hg19	CCDS32203.1																																																																																			.	.		0.577	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
LRRC57	255252	hgsc.bcm.edu	37	15	42839595	42839595	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:42839595T>A	ENST00000323443.2	-	3	723	c.356A>T	c.(355-357)cAa>cTa	p.Q119L	HAUS2_ENST00000568876.1_5'Flank|LRRC57_ENST00000563454.1_Missense_Mutation_p.Q119L|HAUS2_ENST00000568846.2_5'Flank|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q119L|HAUS2_ENST00000260372.3_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	119						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TGCTCCCAGTTGGTTCCCAGA	0.507																																					p.Q119L		Atlas-SNP	.											.	LRRC57	20	.	0			c.A356T						.						89.0	79.0	82.0					15																	42839595		2203	4299	6502	SO:0001583	missense	255252	exon4			CCCAGTTGGTTCC	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.356A>T	chr15.hg19:g.42839595T>A	ENSP00000326817:p.Gln119Leu	89.0	0.0		80.0	42.0	NM_153260	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	hg19	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	T	15.48	2.844831	0.51164	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.56941	0.43;0.43	5.41	1.8	0.24995	.	0.344931	0.35207	N	0.003370	T	0.33702	0.0872	N	0.17278	0.47	0.48762	D	0.999705	B	0.09022	0.002	B	0.10450	0.005	T	0.12192	-1.0557	10	0.59425	D	0.04	.	9.2621	0.37619	0.0:0.2087:0.0:0.7913	.	119	Q8N9N7	LRC57_HUMAN	L	119	ENSP00000326817:Q119L;ENSP00000380319:Q119L	ENSP00000326817:Q119L	Q	-	2	0	LRRC57	40626887	1.000000	0.71417	0.963000	0.40424	0.958000	0.62258	2.021000	0.41020	0.428000	0.26173	-0.256000	0.11100	CAA	.	.		0.507	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
EPB42	2038	hgsc.bcm.edu	37	15	43500883	43500883	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:43500883T>C	ENST00000441366.2	-	7	1148	c.923A>G	c.(922-924)tAt>tGt	p.Y308C	EPB42_ENST00000540029.1_Missense_Mutation_p.Y230C|EPB42_ENST00000300215.3_Missense_Mutation_p.Y338C|EPB42_ENST00000563128.1_5'Flank	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	308					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CTCCTCATTATAGTATTCATC	0.572																																					p.Y338C		Atlas-SNP	.											.	EPB42	53	.	0			c.A1013G						.						140.0	145.0	143.0					15																	43500883		2203	4299	6502	SO:0001583	missense	2038	exon7			TCATTATAGTATT	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.923A>G	chr15.hg19:g.43500883T>C	ENSP00000396616:p.Tyr308Cys	120.0	0.0		139.0	65.0	NM_000119	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	hg19	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.612266	0.66672	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.53423	0.62;0.62;0.62	5.15	5.15	0.70609	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.90082	3.085	0.46749	D	0.999186	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.79298	-0.1861	10	0.87932	D	0	-20.394	12.9755	0.58534	0.0:0.0:0.0:1.0	.	230;308;338;308	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	C	338;230;308;308	ENSP00000300215:Y338C;ENSP00000444699:Y230C;ENSP00000396616:Y308C	ENSP00000300215:Y338C	Y	-	2	0	EPB42	41288175	0.937000	0.31787	1.000000	0.80357	0.638000	0.38207	1.565000	0.36386	2.163000	0.67991	0.459000	0.35465	TAT	.	.		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
TGM7	116179	hgsc.bcm.edu	37	15	43571862	43571862	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:43571862A>C	ENST00000452443.2	-	10	1643	c.1639T>G	c.(1639-1641)Tgg>Ggg	p.W547G		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	547					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTGTGCCTCCAGAAGGGCTTC	0.637																																					p.W547G		Atlas-SNP	.											.	TGM7	86	.	0			c.T1639G						.						106.0	107.0	107.0					15																	43571862		2202	4299	6501	SO:0001583	missense	116179	exon10			GCCTCCAGAAGGG	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1639T>G	chr15.hg19:g.43571862A>C	ENSP00000389466:p.Trp547Gly	49.0	0.0		37.0	11.0	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	hg19	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247070	0.22796	.	.	ENSG00000159495	ENST00000452443	T	0.32023	1.47	4.69	3.55	0.40652	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.066277	0.64402	N	0.000004	T	0.21881	0.0527	L	0.39326	1.205	0.35313	D	0.784082	B	0.12630	0.006	B	0.09377	0.004	T	0.17623	-1.0363	10	0.22109	T	0.4	-11.164	8.3372	0.32221	0.8002:0.1998:0.0:0.0	.	547	Q96PF1	TGM7_HUMAN	G	547	ENSP00000389466:W547G	ENSP00000389466:W547G	W	-	1	0	TGM7	41359154	1.000000	0.71417	0.975000	0.42487	0.513000	0.34164	4.364000	0.59479	0.805000	0.34159	0.533000	0.62120	TGG	.	.		0.637	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
WDR76	79968	hgsc.bcm.edu	37	15	44158449	44158449	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:44158449A>C	ENST00000263795.6	+	13	1810	c.1740A>C	c.(1738-1740)acA>acC	p.T580T	WDR76_ENST00000478130.1_3'UTR|Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000381246.2_Silent_p.T516T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	580										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCATGAGACAGGAAAGAGGG	0.493																																					p.T580T		Atlas-SNP	.											.	WDR76	34	.	0			c.A1740C						.						197.0	157.0	171.0					15																	44158449		2198	4298	6496	SO:0001819	synonymous_variant	79968	exon13			TGAGACAGGAAAG	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1740A>C	chr15.hg19:g.44158449A>C		126.0	0.0		141.0	57.0	NM_024908	A0MNP5|Q05CI4	Silent	SNP	ENST00000263795.6	hg19	CCDS10106.1																																																																																			.	.		0.493	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908	
SEMA6D	80031	hgsc.bcm.edu	37	15	48058822	48058822	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:48058822A>G	ENST00000316364.5	+	16	2095	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	SEMA6D_ENST00000558816.1_Silent_p.G552G|SEMA6D_ENST00000537942.1_Silent_p.G565G|SEMA6D_ENST00000355997.3_Silent_p.G552G|SEMA6D_ENST00000389428.3_Silent_p.G552G|SEMA6D_ENST00000389433.2_Silent_p.G552G|SEMA6D_ENST00000358066.4_Silent_p.G565G|SEMA6D_ENST00000389432.2_Silent_p.G565G|SEMA6D_ENST00000536845.2_Silent_p.G552G|SEMA6D_ENST00000354744.4_Silent_p.G552G|SEMA6D_ENST00000558014.1_Silent_p.G565G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	552	PSI.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGCTGAAGGATATGAACAAG	0.453																																					p.G565G		Atlas-SNP	.											.	SEMA6D	322	.	0			c.A1695G						.						153.0	128.0	136.0					15																	48058822		2198	4297	6495	SO:0001819	synonymous_variant	80031	exon16			TGAAGGATATGAA	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1656A>G	chr15.hg19:g.48058822A>G		105.0	0.0		88.0	44.0	NM_020858	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	hg19	CCDS32225.1																																																																																			.	.		0.453	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
FBN1	2200	hgsc.bcm.edu	37	15	48756135	48756135	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:48756135G>T	ENST00000316623.5	-	41	5481	c.5026C>A	c.(5026-5028)Cca>Aca	p.P1676T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1676	EGF-like 28; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		atgtagTCTGGAGGACAGATA	0.433																																					p.P1676T		Atlas-SNP	.											.	FBN1	310	.	0			c.C5026A						.						159.0	136.0	144.0					15																	48756135		2198	4296	6494	SO:0001583	missense	2200	exon41			AGTCTGGAGGACA	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5026C>A	chr15.hg19:g.48756135G>T	ENSP00000325527:p.Pro1676Thr	77.0	0.0		57.0	24.0	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260324	0.80246	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92099	-2.97	5.73	5.73	0.89815	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.098441	0.64402	D	0.000001	D	0.94381	0.8193	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93330	0.6700	10	0.41790	T	0.15	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	1676	P35555	FBN1_HUMAN	T	1676;244;566	ENSP00000325527:P1676T	ENSP00000325527:P1676T	P	-	1	0	FBN1	46543427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.321000	0.72881	2.868000	0.98415	0.555000	0.69702	CCA	.	.		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FAM227B	196951	hgsc.bcm.edu	37	15	49867301	49867301	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:49867301T>G	ENST00000299338.6	-	8	855	c.552A>C	c.(550-552)agA>agC	p.R184S	FAM227B_ENST00000561064.1_Missense_Mutation_p.R184S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	184																	TTTTAAAAACTCTTTCCTATG	0.328																																					p.R184S		Atlas-SNP	.											.	.	.	.	0			c.A552C						.						42.0	46.0	45.0					15																	49867301		2196	4293	6489	SO:0001583	missense	196951	exon8			AAAAACTCTTTCC		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.552A>C	chr15.hg19:g.49867301T>G	ENSP00000299338:p.Arg184Ser	329.0	0.0		271.0	115.0	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	hg19	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020484	0.35606	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.55	-0.417	0.12347	.	0.278625	0.25642	N	0.029271	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.19391	0.025;0.003	T	0.17198	-1.0377	9	0.44086	T	0.13	-11.4846	8.2466	0.31693	0.0:0.4278:0.0:0.5722	.	184;184	Q96M60-2;Q96M60	.;CO033_HUMAN	S	184	.	ENSP00000299338:R184S	R	-	3	2	C15orf33	47654593	0.000000	0.05858	0.019000	0.16419	0.471000	0.32888	-0.011000	0.12721	0.005000	0.14708	-0.609000	0.04063	AGA	.	.		0.328	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
AP4E1	23431	hgsc.bcm.edu	37	15	51289653	51289653	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:51289653A>G	ENST00000261842.5	+	18	2583	c.2477A>G	c.(2476-2478)tAt>tGt	p.Y826C	AP4E1_ENST00000560508.1_Missense_Mutation_p.Y751C	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	826					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATGTGGCATATGAAGATGAT	0.348																																					p.Y826C		Atlas-SNP	.											.	AP4E1	78	.	0			c.A2477G						.						134.0	129.0	131.0					15																	51289653		2196	4294	6490	SO:0001583	missense	23431	exon18			TGGCATATGAAGA	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2477A>G	chr15.hg19:g.51289653A>G	ENSP00000261842:p.Tyr826Cys	74.0	0.0		88.0	31.0	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	hg19	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	8.426	0.847508	0.17034	.	.	ENSG00000081014	ENST00000261842	T	0.17213	2.29	5.47	0.369	0.16151	.	0.879637	0.10114	N	0.714282	T	0.10723	0.0262	N	0.19112	0.55	0.09310	N	1	D	0.55800	0.973	B	0.43754	0.43	T	0.22871	-1.0204	10	0.39692	T	0.17	-0.4456	5.4812	0.16725	0.6491:0.1424:0.2084:0.0	.	826	Q9UPM8	AP4E1_HUMAN	C	826	ENSP00000261842:Y826C	ENSP00000261842:Y826C	Y	+	2	0	AP4E1	49076945	0.032000	0.19561	0.073000	0.20177	0.230000	0.25150	1.112000	0.31172	0.033000	0.15463	0.383000	0.25322	TAT	.	.		0.348	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
FAM214A	56204	hgsc.bcm.edu	37	15	52879347	52879347	+	Splice_Site	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:52879347C>T	ENST00000261844.7	-	11	3030		c.e11+1		RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Splice_Site	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A																		AAAACACATACCACTTGTATT	0.378																																					.		Atlas-SNP	.											.	.	.	.	0			c.2877+1G>A						.						142.0	132.0	135.0					15																	52879347		1866	4116	5982	SO:0001630	splice_region_variant	56204	exon12			CACATACCACTTG	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2877+1G>A	chr15.hg19:g.52879347C>T		114.0	0.0		63.0	25.0	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Splice_Site	SNP	ENST00000261844.7	hg19	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306491	0.81247	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1370	50666639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.429000	0.80309	2.405000	0.81733	0.650000	0.86243	.	.	.		0.378	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	Intron
RNF111	54778	hgsc.bcm.edu	37	15	59373264	59373264	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:59373264A>G	ENST00000557998.1	+	8	2365	c.2078A>G	c.(2077-2079)cAt>cGt	p.H693R	RNF111_ENST00000434298.1_Missense_Mutation_p.H693R|RNF111_ENST00000561186.1_Missense_Mutation_p.H693R|RNF111_ENST00000559209.1_Missense_Mutation_p.H693R|RNF111_ENST00000348370.4_Missense_Mutation_p.H693R	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	693	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CATGCTTTCCATTCTCAAATA	0.512																																					p.H693R	NSCLC(72;983 1365 10746 34387 47081)	Atlas-SNP	.											.	RNF111	179	.	0			c.A2078G						.						281.0	247.0	259.0					15																	59373264		2192	4291	6483	SO:0001583	missense	54778	exon8			CTTTCCATTCTCA	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2078A>G	chr15.hg19:g.59373264A>G	ENSP00000452732:p.His693Arg	202.0	0.0		199.0	91.0	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	hg19	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451784	0.63290	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15952	2.4;2.38	5.31	5.31	0.75309	.	0.163774	0.53938	D	0.000055	T	0.27731	0.0682	L	0.44542	1.39	0.58432	D	0.999994	D;D;D	0.65815	0.995;0.989;0.993	P;P;P	0.60473	0.875;0.688;0.835	T	0.01225	-1.1413	10	0.37606	T	0.19	-11.4673	10.5124	0.44870	0.8555:0.0:0.0:0.1445	.	693;693;693	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	R	693	ENSP00000288199:H693R;ENSP00000393641:H693R	ENSP00000288199:H693R	H	+	2	0	RNF111	57160556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.495000	0.66912	2.021000	0.59480	0.383000	0.25322	CAT	.	.		0.512	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
VPS13C	54832	hgsc.bcm.edu	37	15	62223325	62223325	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:62223325T>G	ENST00000261517.5	-	50	6075	c.6002A>C	c.(6001-6003)gAt>gCt	p.D2001A	VPS13C_ENST00000395896.4_Missense_Mutation_p.D2001A|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1958A|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1958A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGAGATCATCAAGGGTGCA	0.438																																					p.D2001A		Atlas-SNP	.											.	VPS13C	506	.	0			c.A6002C						.						154.0	131.0	139.0					15																	62223325		2203	4300	6503	SO:0001583	missense	54832	exon50			AGATCATCAAGGG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6002A>C	chr15.hg19:g.62223325T>G	ENSP00000261517:p.Asp2001Ala	96.0	0.0		91.0	41.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	hg19	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588936	0.86851	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.51325	0.71;0.71;0.9	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.996	T	0.74241	-0.3729	10	0.72032	D	0.01	.	15.7481	0.77962	0.0:0.0:0.0:1.0	.	1958;2001;1958;2001	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	A	1958;2001;2001;2001	ENSP00000249837:D1958A;ENSP00000261517:D2001A;ENSP00000379233:D2001A	ENSP00000249837:D1958A	D	-	2	0	VPS13C	60010617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.669000	0.74462	2.168000	0.68352	0.528000	0.53228	GAT	.	.		0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
TLN2	83660	hgsc.bcm.edu	37	15	63102125	63102125	+	Splice_Site	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:63102125A>C	ENST00000561311.1	+	51	6895	c.6665A>C	c.(6664-6666)cAa>cCa	p.Q2222P	TLN2_ENST00000306829.6_Splice_Site_p.Q2222P			Q9Y4G6	TLN2_HUMAN	talin 2	2222					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCTCTCCAGCAAGCATCCTTC	0.547																																					p.Q2222P		Atlas-SNP	.											.	TLN2	253	.	0			c.A6665C						.						101.0	73.0	83.0					15																	63102125		2203	4300	6503	SO:0001630	splice_region_variant	83660	exon49			TCCAGCAAGCATC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6664-1A>C	chr15.hg19:g.63102125A>C		119.0	0.0		88.0	46.0	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	hg19	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792369	0.50102	.	.	ENSG00000171914	ENST00000306829	T	0.68331	-0.32	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.57536	1.79	0.80722	D	1	B	0.17268	0.021	B	0.17098	0.017	T	0.60632	-0.7225	10	0.38643	T	0.18	-10.3349	15.9649	0.79961	1.0:0.0:0.0:0.0	.	2222	Q9Y4G6	TLN2_HUMAN	P	2222	ENSP00000303476:Q2222P	ENSP00000303476:Q2222P	Q	+	2	0	TLN2	60889178	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.287000	0.95975	2.178000	0.69098	0.459000	0.35465	CAA	.	.		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation
MEGF11	84465	hgsc.bcm.edu	37	15	66222097	66222097	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:66222097A>T	ENST00000409699.2	-	12	1705	c.1533T>A	c.(1531-1533)acT>acA	p.T511T	MEGF11_ENST00000422354.1_Silent_p.T511T|MEGF11_ENST00000395625.2_Silent_p.T436T|MEGF11_ENST00000288745.3_Silent_p.T436T|MEGF11_ENST00000360698.4_Silent_p.T511T|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	511	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCCAGCCAGGAGTGCAGGAGC	0.667																																					p.T511T		Atlas-SNP	.											.	MEGF11	70	.	0			c.T1533A						.						35.0	26.0	29.0					15																	66222097		2184	4250	6434	SO:0001819	synonymous_variant	84465	exon12			GCCAGGAGTGCAG	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1533T>A	chr15.hg19:g.66222097A>T		105.0	0.0		98.0	36.0	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	hg19	CCDS10213.2																																																																																			.	.		0.667	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
RPL4	6124	hgsc.bcm.edu	37	15	66795504	66795504	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:66795504T>A	ENST00000307961.6	-	3	268		c.e3-2		SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000307897.5_5'Flank|RPL4_ENST00000564517.1_5'Flank|ZWILCH_ENST00000535141.2_5'Flank|SNORD18A_ENST00000363753.1_RNA|RPL4_ENST00000568588.1_Splice_Site|SNORD18B_ENST00000365659.1_RNA|ZWILCH_ENST00000565627.1_5'Flank|SNORD18C_ENST00000362704.1_RNA|ZWILCH_ENST00000446801.2_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTGATGACCTAAAATTGAGA	0.478																																					.		Atlas-SNP	.											.	RPL4	29	.	0			c.176-2A>T						.						40.0	40.0	40.0					15																	66795504		2201	4299	6500	SO:0001630	splice_region_variant	6124	exon4			ATGACCTAAAATT	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.176-2A>T	chr15.hg19:g.66795504T>A		110.0	0.0		115.0	44.0	NM_000968	A8K502|P39029|Q4VBR0|Q969Z9	Splice_Site	SNP	ENST00000307961.6	hg19	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471942	0.63737	.	.	ENSG00000174444	ENST00000307961;ENST00000449253;ENST00000432669	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4518	0.67389	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL4	64582558	1.000000	0.71417	0.932000	0.37286	0.768000	0.43524	7.668000	0.83897	2.000000	0.58554	0.454000	0.30748	.	.	.		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968	Intron
ITGA11	22801	hgsc.bcm.edu	37	15	68624266	68624266	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:68624266C>T	ENST00000315757.7	-	14	1787	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	ITGA11_ENST00000423218.2_Silent_p.E567E	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	567					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CGTGGTTGTCCTCCAGGGGGG	0.577																																					p.E567E		Atlas-SNP	.											.	ITGA11	110	.	0			c.G1701A						.						57.0	56.0	56.0					15																	68624266		1983	4152	6135	SO:0001819	synonymous_variant	22801	exon14			GTTGTCCTCCAGG	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1701G>A	chr15.hg19:g.68624266C>T		100.0	0.0		104.0	57.0	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	hg19	CCDS45291.1																																																																																			.	.		0.577	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
ITGA11	22801	hgsc.bcm.edu	37	15	68624312	68624312	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:68624312A>T	ENST00000315757.7	-	14	1741	c.1655T>A	c.(1654-1656)cTc>cAc	p.L552H	ITGA11_ENST00000423218.2_Missense_Mutation_p.L552H	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	552					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						ATCCTGGTTGAGGTCTCGAAC	0.532																																					p.L552H		Atlas-SNP	.											.	ITGA11	110	.	0			c.T1655A						.						62.0	60.0	61.0					15																	68624312		1971	4161	6132	SO:0001583	missense	22801	exon14			TGGTTGAGGTCTC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1655T>A	chr15.hg19:g.68624312A>T	ENSP00000327290:p.Leu552His	123.0	0.0		127.0	52.0	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	hg19	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624455	0.66901	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.12984	2.63;2.63	4.67	4.67	0.58626	.	0.140675	0.49305	D	0.000156	T	0.48995	0.1531	H	0.97103	3.94	0.45490	D	0.99845	D;D	0.69078	0.997;0.992	D;D	0.64506	0.926;0.926	T	0.67047	-0.5769	10	0.87932	D	0	.	13.3244	0.60450	1.0:0.0:0.0:0.0	.	552;552	A8K8T0;Q9UKX5	.;ITA11_HUMAN	H	552;552;187;552	ENSP00000327290:L552H;ENSP00000403392:L552H	ENSP00000327290:L552H	L	-	2	0	ITGA11	66411366	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	8.882000	0.92420	1.747000	0.51819	0.374000	0.22700	CTC	.	.		0.532	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
CORO2B	10391	hgsc.bcm.edu	37	15	69006317	69006317	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:69006317G>T	ENST00000566799.1	+	6	731	c.702G>T	c.(700-702)atG>atT	p.M234I	CORO2B_ENST00000543950.1_Missense_Mutation_p.M229I|CORO2B_ENST00000540068.1_Missense_Mutation_p.M229I|CORO2B_ENST00000261861.5_Missense_Mutation_p.M229I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	234					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.M234I(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGGAACATGAAGCGGCTCC	0.597																																					p.M234I		Atlas-SNP	.											CORO2B,NS,carcinoma,0,1	CORO2B	68	.	1	Substitution - Missense(1)	lung(1)	c.G702T						.						81.0	63.0	69.0					15																	69006317		2200	4298	6498	SO:0001583	missense	10391	exon6			GAACATGAAGCGG	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.702G>T	chr15.hg19:g.69006317G>T	ENSP00000454783:p.Met234Ile	94.0	0.0		61.0	20.0	NM_006091	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	hg19	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800776	0.31869	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.57595	0.39;0.39	5.34	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.236530	0.49305	D	0.000159	T	0.44498	0.1296	M	0.62723	1.935	0.43453	D	0.995647	B	0.02656	0.0	B	0.04013	0.001	T	0.30268	-0.9984	10	0.19147	T	0.46	-27.8533	8.4511	0.32871	0.0863:0.1563:0.7574:0.0	.	234	Q9UQ03	COR2B_HUMAN	I	234;229;229	ENSP00000446250:M229I;ENSP00000443819:M229I	ENSP00000261861:M234I	M	+	3	0	CORO2B	66793371	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.664000	0.46783	1.241000	0.43820	0.655000	0.94253	ATG	.	.		0.597	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
GRAMD2	196996	hgsc.bcm.edu	37	15	72455799	72455799	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:72455799A>G	ENST00000309731.7	-	10	777	c.764T>C	c.(763-765)gTa>gCa	p.V255A	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	255						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCTGAAGCTACTTGGGCTCT	0.512																																					p.V255A		Atlas-SNP	.											.	GRAMD2	31	.	0			c.T764C						.						88.0	94.0	92.0					15																	72455799		2199	4297	6496	SO:0001583	missense	196996	exon10			GAAGCTACTTGGG	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.764T>C	chr15.hg19:g.72455799A>G	ENSP00000311657:p.Val255Ala	87.0	0.0		85.0	38.0	NM_001012642	B3KT68	Missense_Mutation	SNP	ENST00000309731.7	hg19	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	A	1.877	-0.458878	0.04508	.	.	ENSG00000175318	ENST00000309731	T	0.29917	1.55	3.38	-0.764	0.11027	.	.	.	.	.	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35176	-0.9799	9	0.08599	T	0.76	.	4.018	0.09652	0.3381:0.3468:0.3151:0.0	.	255	Q8IUY3	GRAM2_HUMAN	A	255	ENSP00000311657:V255A	ENSP00000311657:V255A	V	-	2	0	GRAMD2	70242853	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.144000	0.03197	-0.139000	0.11414	-0.242000	0.12053	GTA	.	.		0.512	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	
HCN4	10021	hgsc.bcm.edu	37	15	73614832	73614832	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:73614832G>T	ENST00000261917.3	-	8	4595	c.3602C>A	c.(3601-3603)tCc>tAc	p.S1201Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1201					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCATAGATTGGATGGCAGTTT	0.542																																					p.S1201Y		Atlas-SNP	.											.	HCN4	150	.	0			c.C3602A						.						14.0	15.0	15.0					15																	73614832		2192	4284	6476	SO:0001583	missense	10021	exon8			AGATTGGATGGCA	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3602C>A	chr15.hg19:g.73614832G>T	ENSP00000261917:p.Ser1201Tyr	175.0	0.0		143.0	65.0	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364469	0.41902	.	.	ENSG00000138622	ENST00000261917	D	0.98978	-5.29	3.52	3.52	0.40303	.	.	.	.	.	D	0.98710	0.9567	L	0.46157	1.445	0.53688	D	0.999977	D	0.71674	0.998	D	0.77557	0.99	D	0.99250	1.0887	9	0.87932	D	0	.	13.1926	0.59719	0.0:0.0:1.0:0.0	.	1201	Q9Y3Q4	HCN4_HUMAN	Y	1201	ENSP00000261917:S1201Y	ENSP00000261917:S1201Y	S	-	2	0	HCN4	71401885	1.000000	0.71417	0.992000	0.48379	0.347000	0.29111	5.285000	0.65633	1.660000	0.50760	0.305000	0.20034	TCC	.	.		0.542	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
CD276	80381	hgsc.bcm.edu	37	15	73994758	73994758	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:73994758A>G	ENST00000318443.5	+	3	544	c.242A>G	c.(241-243)gAg>gGg	p.E81G	CD276_ENST00000318424.5_Missense_Mutation_p.E81G|CD276_ENST00000564751.1_Missense_Mutation_p.E81G|CD276_ENST00000561213.1_Missense_Mutation_p.E81G|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	81	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						AGCTTTGCTGAGGGCCAGGAC	0.642																																					p.E81G		Atlas-SNP	.											.	CD276	29	.	0			c.A242G						.						56.0	48.0	50.0					15																	73994758		2198	4297	6495	SO:0001583	missense	80381	exon3			TTGCTGAGGGCCA	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.242A>G	chr15.hg19:g.73994758A>G	ENSP00000320084:p.Glu81Gly	67.0	0.0		58.0	28.0	NM_025240	Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	hg19	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	A	2.399	-0.337986	0.05278	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	T;T	0.65916	-0.18;-0.18	2.84	2.84	0.33178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46737	0.1408	L	0.34521	1.04	0.31794	N	0.629227	B;B;B;B	0.09022	0.0;0.002;0.001;0.0	B;B;B;B	0.08055	0.0;0.003;0.002;0.001	T	0.48703	-0.9012	9	0.30078	T	0.28	-3.3593	7.3886	0.26897	0.8049:0.0:0.0:0.195	.	27;81;81;81	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	G	81	ENSP00000320058:E81G;ENSP00000320084:E81G	ENSP00000320058:E81G	E	+	2	0	CD276	71781811	0.950000	0.32346	0.922000	0.36590	0.052000	0.14988	2.737000	0.47393	1.537000	0.49254	0.260000	0.18958	GAG	.	.		0.642	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	
SEMA7A	8482	hgsc.bcm.edu	37	15	74707046	74707046	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:74707046T>A	ENST00000261918.4	-	10	1684	c.1136A>T	c.(1135-1137)cAg>cTg	p.Q379L	SEMA7A_ENST00000542748.1_Missense_Mutation_p.Q214L|SEMA7A_ENST00000543145.2_Missense_Mutation_p.Q365L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	379	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTCAGCCACCTGGAAGGTCTC	0.627																																					p.Q379L		Atlas-SNP	.											.	SEMA7A	58	.	0			c.A1136T						.						63.0	71.0	68.0					15																	74707046		2197	4296	6493	SO:0001583	missense	8482	exon10			GCCACCTGGAAGG	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1136A>T	chr15.hg19:g.74707046T>A	ENSP00000261918:p.Gln379Leu	79.0	0.0		61.0	37.0	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	hg19	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286583	0.80803	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.23348	1.91;1.91;1.91	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.246806	0.40064	N	0.001185	T	0.38134	0.1029	M	0.76574	2.34	0.37416	D	0.913449	P;D	0.60160	0.953;0.987	P;P	0.51777	0.55;0.679	T	0.46679	-0.9174	10	0.41790	T	0.15	-25.0977	9.425	0.38574	0.0:0.0808:0.0:0.9192	.	365;379	F5H1S0;O75326	.;SEM7A_HUMAN	L	379;365;214	ENSP00000261918:Q379L;ENSP00000438966:Q365L;ENSP00000441493:Q214L	ENSP00000261918:Q379L	Q	-	2	0	SEMA7A	72494099	0.977000	0.34250	1.000000	0.80357	0.932000	0.56968	2.671000	0.46842	2.166000	0.68216	0.454000	0.30748	CAG	.	.		0.627	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
CYP1A1	1543	hgsc.bcm.edu	37	15	75013936	75013936	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:75013936T>C	ENST00000379727.3	-	3	1146	c.948A>G	c.(946-948)ggA>ggG	p.G316G	CYP1A1_ENST00000564596.1_Silent_p.G55G|CYP1A1_ENST00000395049.4_Silent_p.G316G|CYP1A1_ENST00000395048.2_Silent_p.G316G|CYP1A1_ENST00000567032.1_Silent_p.G316G			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	316					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CCATACCAGCTCCAAAGAGGT	0.512									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												p.G316G		Atlas-SNP	.											.	CYP1A1	60	.	0			c.A948G						.						189.0	140.0	157.0					15																	75013936		2197	4296	6493	SO:0001819	synonymous_variant	1543	exon3	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	ACCAGCTCCAAAG	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.948A>G	chr15.hg19:g.75013936T>C		80.0	0.0		62.0	26.0	NM_000499	A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	hg19	CCDS10268.1																																																																																			.	.		0.512	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
LMAN1L	79748	hgsc.bcm.edu	37	15	75111520	75111520	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:75111520A>T	ENST00000309664.5	+	6	764	c.625A>T	c.(625-627)Agt>Tgt	p.S209C	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.S209C	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	209	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCACTCCCAGTGATCCAGG	0.622																																					p.S209C		Atlas-SNP	.											.	LMAN1L	43	.	0			c.A625T						.						202.0	177.0	185.0					15																	75111520		2197	4296	6493	SO:0001583	missense	79748	exon6			ACTCCCAGTGATC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.625A>T	chr15.hg19:g.75111520A>T	ENSP00000310431:p.Ser209Cys	69.0	0.0		56.0	20.0	NM_021819	Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	hg19	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819864	0.32145	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.65178	-0.14;-0.14	5.67	-0.627	0.11541	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.733160	0.02348	N	0.075627	T	0.68577	0.3016	M	0.61703	1.905	0.09310	N	0.999997	D;D;D;D	0.60160	0.987;0.973;0.987;0.978	P;P;P;P	0.57371	0.819;0.634;0.75;0.75	T	0.51244	-0.8730	10	0.66056	D	0.02	.	1.1069	0.01696	0.3905:0.3003:0.1645:0.1447	.	101;209;137;209	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	C	209;101;209	ENSP00000310431:S209C;ENSP00000369031:S209C	ENSP00000310431:S209C	S	+	1	0	LMAN1L	72898573	0.334000	0.24739	0.040000	0.18447	0.100000	0.18952	0.790000	0.26900	-0.126000	0.11682	-1.345000	0.01243	AGT	.	.		0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		
C15orf39	56905	hgsc.bcm.edu	37	15	75499850	75499850	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:75499850A>T	ENST00000360639.2	+	2	1781	c.1461A>T	c.(1459-1461)ccA>ccT	p.P487P	C15orf39_ENST00000394987.4_Silent_p.P487P|C15orf39_ENST00000567617.1_Silent_p.P487P			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	487						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGTCTCTTCCACAGAAGGAGG	0.627																																					p.P487P		Atlas-SNP	.											.	C15orf39	64	.	0			c.A1461T						.						57.0	59.0	58.0					15																	75499850		2197	4295	6492	SO:0001819	synonymous_variant	56905	exon2			TCTTCCACAGAAG	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1461A>T	chr15.hg19:g.75499850A>T		66.0	0.0		43.0	18.0	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	hg19	CCDS10276.1																																																																																			.	.		0.627	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
UBE2Q2	92912	hgsc.bcm.edu	37	15	76152229	76152229	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:76152229A>T	ENST00000267938.4	+	3	675	c.293A>T	c.(292-294)cAa>cTa	p.Q98L	UBE2Q2_ENST00000561851.1_Missense_Mutation_p.Q82L|UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.Q98L	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	98					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CTTCGTCAGCAATTGAAGTGG	0.383																																					p.Q98L		Atlas-SNP	.											.	UBE2Q2	26	.	0			c.A293T						.						81.0	69.0	73.0					15																	76152229		2197	4294	6491	SO:0001583	missense	92912	exon3			GTCAGCAATTGAA	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.293A>T	chr15.hg19:g.76152229A>T	ENSP00000267938:p.Gln98Leu	100.0	0.0		75.0	38.0	NM_173469	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Missense_Mutation	SNP	ENST00000267938.4	hg19	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485285	0.84854	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	T;T	0.39997	1.05;1.05	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.52011	1.625	0.80722	D	1	B;B	0.32382	0.212;0.368	B;B	0.38327	0.086;0.271	T	0.46582	-0.9181	10	0.87932	D	0	.	12.9562	0.58430	1.0:0.0:0.0:0.0	.	82;98	E9PHD0;Q8WVN8	.;UB2Q2_HUMAN	L	98;98;82	ENSP00000340187:Q98L;ENSP00000267938:Q98L	ENSP00000267938:Q98L	Q	+	2	0	UBE2Q2	73939284	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	7.871000	0.87180	1.968000	0.57251	0.519000	0.50382	CAA	.	.		0.383	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	
UBE2Q2	92912	hgsc.bcm.edu	37	15	76183352	76183352	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:76183352T>C	ENST00000267938.4	+	11	1408	c.1026T>C	c.(1024-1026)aaT>aaC	p.N342N	UBE2Q2_ENST00000561851.1_Silent_p.N326N|UBE2Q2_ENST00000569423.1_Silent_p.N307N|UBE2Q2_ENST00000338677.4_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	342					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TTGGAGCAAATAAGGTACTTC	0.353																																					p.N342N		Atlas-SNP	.											.	UBE2Q2	26	.	0			c.T1026C						.						82.0	85.0	84.0					15																	76183352		2197	4294	6491	SO:0001819	synonymous_variant	92912	exon11			AGCAAATAAGGTA	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.1026T>C	chr15.hg19:g.76183352T>C		105.0	0.0		82.0	32.0	NM_173469	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	ENST00000267938.4	hg19	CCDS10286.1																																																																																			.	.		0.353	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	
SCAPER	49855	hgsc.bcm.edu	37	15	77021006	77021006	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:77021006C>G	ENST00000563290.1	-	17	2190	c.2095G>C	c.(2095-2097)Gaa>Caa	p.E699Q	SCAPER_ENST00000538941.2_Missense_Mutation_p.E453Q|SCAPER_ENST00000324767.7_Missense_Mutation_p.E699Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	699	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTCGGGCTTCTTGTTCTTTC	0.433																																					p.E699Q		Atlas-SNP	.											.	SCAPER	160	.	0			c.G2095C						.						146.0	138.0	141.0					15																	77021006		1828	4077	5905	SO:0001583	missense	49855	exon16			GGGCTTCTTGTTC	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2095G>C	chr15.hg19:g.77021006C>G	ENSP00000454973:p.Glu699Gln	103.0	0.0		77.0	32.0	NM_020843	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	hg19	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942254	0.92526	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.27256	1.7;1.68	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.38531	1.155	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.982;0.997;0.994	T	0.27331	-1.0077	10	0.51188	T	0.08	.	18.9347	0.92580	0.0:1.0:0.0:0.0	.	698;720;453	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	Q	699;453;721	ENSP00000326924:E699Q;ENSP00000442190:E453Q	ENSP00000303560:E721Q	E	-	1	0	SCAPER	74808061	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.295000	0.78780	2.554000	0.86153	0.563000	0.77884	GAA	.	.		0.433	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
KIAA1024	23251	hgsc.bcm.edu	37	15	79749742	79749742	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:79749742A>G	ENST00000305428.3	+	2	1328	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	418						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTTGTGCCAAAGGATCAACAG	0.488																																					p.K418R		Atlas-SNP	.											.	KIAA1024	146	.	0			c.A1253G						.						65.0	72.0	70.0					15																	79749742		2196	4293	6489	SO:0001583	missense	23251	exon2			TGCCAAAGGATCA	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1253A>G	chr15.hg19:g.79749742A>G	ENSP00000307461:p.Lys418Arg	216.0	0.0		191.0	86.0	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	hg19	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	5.585	0.292666	0.10567	.	.	ENSG00000169330	ENST00000305428	T	0.33654	1.4	5.14	4.01	0.46588	.	0.338473	0.34750	N	0.003718	T	0.33030	0.0849	L	0.60455	1.87	0.32009	N	0.602276	B	0.20052	0.041	B	0.24155	0.051	T	0.34650	-0.9820	9	.	.	.	.	9.2707	0.37670	0.917:0.0:0.083:0.0	.	418	Q9UPX6	K1024_HUMAN	R	418	ENSP00000307461:K418R	.	K	+	2	0	KIAA1024	77536797	0.991000	0.36638	0.126000	0.21872	0.048000	0.14542	3.558000	0.53749	0.801000	0.34066	0.402000	0.26972	AAG	.	.		0.488	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
MEX3B	84206	hgsc.bcm.edu	37	15	82336831	82336831	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:82336831A>G	ENST00000329713.4	-	2	815	c.380T>C	c.(379-381)aTc>aCc	p.I127T	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	127	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGCAGAGATGATCTCCCTCCG	0.622																																					p.I127T		Atlas-SNP	.											.	MEX3B	50	.	0			c.T380C						.						54.0	53.0	53.0					15																	82336831		2203	4300	6503	SO:0001583	missense	84206	exon2			GAGATGATCTCCC	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.380T>C	chr15.hg19:g.82336831A>G	ENSP00000329918:p.Ile127Thr	34.0	0.0		31.0	14.0	NM_032246	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	hg19	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227673	0.79576	.	.	ENSG00000183496	ENST00000329713	T	0.46451	0.87	4.41	4.41	0.53225	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.128586	0.51477	D	0.000091	T	0.62829	0.2460	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.67833	-0.5568	10	0.87932	D	0	-25.1565	12.7441	0.57270	1.0:0.0:0.0:0.0	.	127	Q6ZN04	MEX3B_HUMAN	T	127	ENSP00000329918:I127T	ENSP00000329918:I127T	I	-	2	0	MEX3B	80123886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.373000	0.90131	1.857000	0.53885	0.402000	0.26972	ATC	.	.		0.622	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645	
EFTUD1	79631	hgsc.bcm.edu	37	15	82444096	82444096	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:82444096C>T	ENST00000268206.7	-	18	2867	c.2699G>A	c.(2698-2700)aGt>aAt	p.S900N	EFTUD1_ENST00000359445.3_Missense_Mutation_p.S849N	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	900					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCAAATTTACTTAGGTCCCA	0.463																																					p.S900N		Atlas-SNP	.											.	EFTUD1	74	.	0			c.G2699A						.						96.0	95.0	96.0					15																	82444096		1870	4104	5974	SO:0001583	missense	79631	exon18			AATTTACTTAGGT	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2699G>A	chr15.hg19:g.82444096C>T	ENSP00000268206:p.Ser900Asn	84.0	0.0		98.0	41.0	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	hg19	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739619	0.15642	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.62941	-0.01;-0.01	5.44	2.56	0.30785	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.537282	0.16462	N	0.213362	T	0.44498	0.1296	L	0.31420	0.93	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.22906	-1.0203	10	0.13108	T	0.6	2.3643	9.1368	0.36879	0.0:0.6772:0.0:0.3228	.	849;900	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	N	900;849	ENSP00000268206:S900N;ENSP00000352418:S849N	ENSP00000268206:S900N	S	-	2	0	EFTUD1	80231151	0.912000	0.30974	0.004000	0.12327	0.979000	0.70002	0.429000	0.21412	0.420000	0.25954	0.585000	0.79938	AGT	.	.		0.463	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
BTBD1	53339	hgsc.bcm.edu	37	15	83718868	83718868	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:83718868T>C	ENST00000261721.4	-	3	823	c.621A>G	c.(619-621)acA>acG	p.T207T	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Silent_p.T207T|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	207					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TTGCATCCATTGTGCTTTTGT	0.318																																					p.T207T		Atlas-SNP	.											.	BTBD1	32	.	0			c.A621G						.						123.0	116.0	118.0					15																	83718868		2203	4300	6503	SO:0001819	synonymous_variant	53339	exon3			ATCCATTGTGCTT	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.621A>G	chr15.hg19:g.83718868T>C		79.0	0.0		60.0	31.0	NM_025238	A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	ENST00000261721.4	hg19	CCDS10322.1																																																																																			.	.		0.318	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		
AKAP13	11214	hgsc.bcm.edu	37	15	86286977	86286977	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:86286977C>A	ENST00000394518.2	+	36	8408	c.8313C>A	c.(8311-8313)acC>acA	p.T2771T	AKAP13_ENST00000361243.2_Silent_p.T2775T|AKAP13_ENST00000394510.2_Silent_p.T1016T|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2771	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCCTCTACCCGCCTGTTTG	0.522																																					p.T2775T	Melanoma(94;603 1453 3280 32295 32951)	Atlas-SNP	.											.	AKAP13	394	.	0			c.C8325A						.						56.0	60.0	59.0					15																	86286977		2202	4299	6501	SO:0001819	synonymous_variant	11214	exon36			CTCTACCCGCCTG	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8313C>A	chr15.hg19:g.86286977C>A		138.0	0.0		101.0	15.0	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	hg19	CCDS32319.1																																																																																			.	.		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
AGBL1	123624	hgsc.bcm.edu	37	15	86702252	86702252	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:86702252A>C	ENST00000441037.2	+	4	440	c.345A>C	c.(343-345)gcA>gcC	p.A115A	AGBL1_ENST00000421325.2_Silent_p.A115A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	115					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCACCCAAGCAATCAGGTACA	0.448																																					p.A115A		Atlas-SNP	.											.	AGBL1	151	.	0			c.A345C						.						111.0	103.0	105.0					15																	86702252		1938	4141	6079	SO:0001819	synonymous_variant	123624	exon4			CCAAGCAATCAGG	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.345A>C	chr15.hg19:g.86702252A>C		86.0	0.0		81.0	41.0	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	hg19	CCDS58398.1																																																																																			.	.		0.448	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	hgsc.bcm.edu	37	15	86823010	86823010	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:86823010T>A	ENST00000441037.2	+	15	2173	c.2078T>A	c.(2077-2079)cTc>cAc	p.L693H	AGBL1_ENST00000421325.2_Missense_Mutation_p.L693H|AGBL1_ENST00000389298.3_Missense_Mutation_p.L424H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	693					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TACACAGCCCTCATGGTAACT	0.512																																					p.L693H		Atlas-SNP	.											.	AGBL1	151	.	0			c.T2078A						.						320.0	296.0	304.0					15																	86823010		1980	4170	6150	SO:0001583	missense	123624	exon15			CAGCCCTCATGGT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2078T>A	chr15.hg19:g.86823010T>A	ENSP00000413001:p.Leu693His	106.0	0.0		110.0	54.0	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	hg19	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503655	0.85176	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.17054	2.3;2.31	5.3	5.3	0.74995	.	0.168121	0.39274	N	0.001412	T	0.45756	0.1358	M	0.83774	2.66	0.47123	D	0.999326	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.98	T	0.50972	-0.8764	10	0.87932	D	0	-23.891	14.5795	0.68278	0.0:0.0:0.0:1.0	.	392;424;693	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	H	722;693;424	ENSP00000397173:L693H;ENSP00000373949:L424H	ENSP00000373949:L424H	L	+	2	0	AGBL1	84624014	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.600000	0.82769	2.230000	0.72887	0.533000	0.62120	CTC	.	.		0.512	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	hgsc.bcm.edu	37	15	87097675	87097675	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:87097675C>A	ENST00000441037.2	+	20	2858	c.2763C>A	c.(2761-2763)tcC>tcA	p.S921S	AGBL1_ENST00000389298.3_Silent_p.S652S|AGBL1_ENST00000421325.2_Silent_p.S921S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	921					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCGAGCTTCCACGGCCCGGG	0.512																																					p.S921S		Atlas-SNP	.											.	AGBL1	151	.	0			c.C2763A						.						31.0	32.0	32.0					15																	87097675		1894	4113	6007	SO:0001819	synonymous_variant	123624	exon20			AGCTTCCACGGCC	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2763C>A	chr15.hg19:g.87097675C>A		77.0	0.0		63.0	30.0	NM_152336	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	hg19	CCDS58398.1																																																																																			.	.		0.512	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
ACAN	176	hgsc.bcm.edu	37	15	89388804	89388804	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:89388804A>G	ENST00000561243.1	+	6	1120	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	ACAN_ENST00000559004.1_Missense_Mutation_p.T374A|ACAN_ENST00000558207.1_Missense_Mutation_p.T374A|ACAN_ENST00000439576.2_Missense_Mutation_p.T374A|ACAN_ENST00000352105.7_Missense_Mutation_p.T374A			P16112	PGCA_HUMAN	aggrecan	374					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCGTCCAGACAGTGACCTG	0.557																																					p.T374A		Atlas-SNP	.											.	ACAN	220	.	0			c.A1120G						.						65.0	74.0	71.0					15																	89388804		2164	4261	6425	SO:0001583	missense	176	exon7			GTCCAGACAGTGA	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1120A>G	chr15.hg19:g.89388804A>G	ENSP00000453342:p.Thr374Ala	92.0	0.0		75.0	36.0	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.418181	0.62622	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02763	4.41;4.17	5.61	5.61	0.85477	.	0.000000	0.33553	N	0.004786	T	0.13970	0.0338	M	0.78801	2.425	0.38200	D	0.940152	D;D;P	0.76494	0.999;0.999;0.874	D;D;B	0.76071	0.987;0.987;0.391	T	0.01767	-1.1278	10	0.39692	T	0.17	-9.1083	12.4865	0.55877	1.0:0.0:0.0:0.0	.	374;374;374	E7ENV9;E7EX88;Q6PID9	.;.;.	A	374	ENSP00000387356:T374A;ENSP00000341615:T374A	ENSP00000268134:T374A	T	+	1	0	ACAN	87189808	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.956000	0.63645	2.266000	0.75297	0.533000	0.62120	ACA	.	.		0.557	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
ABHD2	11057	hgsc.bcm.edu	37	15	89694906	89694906	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:89694906A>G	ENST00000352732.5	+	4	714		c.e4-1		ABHD2_ENST00000355100.3_Splice_Site|ABHD2_ENST00000565973.1_Splice_Site	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2						negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCTTTCTTTAGATACATTCC	0.448																																					.	Colon(11;252 417 24570 33239 41878)	Atlas-SNP	.											.	ABHD2	55	.	0			c.195-2A>G						.						105.0	98.0	100.0					15																	89694906		2200	4299	6499	SO:0001630	splice_region_variant	11057	exon4			TTCTTTAGATACA	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.195-1A>G	chr15.hg19:g.89694906A>G		81.0	0.0		64.0	32.0	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Splice_Site	SNP	ENST00000352732.5	hg19	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008552	0.54361	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABHD2	87495910	1.000000	0.71417	0.901000	0.35422	0.341000	0.28922	8.934000	0.92915	2.302000	0.77476	0.533000	0.62120	.	.	.		0.448	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		Intron
WDR93	56964	hgsc.bcm.edu	37	15	90246187	90246187	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:90246187A>C	ENST00000268130.7	+	3	411	c.310A>C	c.(310-312)Aaa>Caa	p.K104Q	WDR93_ENST00000558000.1_Missense_Mutation_p.K104Q|RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000560294.1_Missense_Mutation_p.K104Q	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	104					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCTCAACAAAATGCCAAA	0.358																																					p.K104Q		Atlas-SNP	.											.	WDR93	63	.	0			c.A310C						.						59.0	58.0	58.0					15																	90246187		2200	4299	6499	SO:0001583	missense	56964	exon3			CTCAACAAAATGC		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.310A>C	chr15.hg19:g.90246187A>C	ENSP00000268130:p.Lys104Gln	101.0	0.0		85.0	41.0	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	hg19	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	A	9.180	1.023334	0.19433	.	.	ENSG00000140527	ENST00000268130	T	0.29655	1.56	5.62	3.22	0.36961	WD40 repeat-like-containing domain (1);	0.815256	0.11195	N	0.589518	T	0.28764	0.0713	M	0.67953	2.075	0.09310	N	0.999999	B;B;B	0.20261	0.043;0.017;0.043	B;B;B	0.18561	0.018;0.022;0.018	T	0.28138	-1.0053	10	0.22109	T	0.4	-1.6312	5.9281	0.19124	0.7471:0.1655:0.0874:0.0	.	104;104;104	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	Q	104	ENSP00000268130:K104Q	ENSP00000268130:K104Q	K	+	1	0	WDR93	88047191	0.001000	0.12720	0.197000	0.23402	0.702000	0.40608	1.036000	0.30228	0.917000	0.36895	0.533000	0.62120	AAA	.	.		0.358	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
MCTP2	55784	hgsc.bcm.edu	37	15	94913364	94913364	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:94913364G>A	ENST00000357742.4	+	11	1537	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	MCTP2_ENST00000331706.4_Missense_Mutation_p.V101M|MCTP2_ENST00000557742.1_Missense_Mutation_p.V101M|MCTP2_ENST00000451018.3_Missense_Mutation_p.V513M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	513	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCTACAAGTGAAGGTTTT	0.363																																					p.V513M		Atlas-SNP	.											.	MCTP2	122	.	0			c.G1537A						.						97.0	94.0	95.0					15																	94913364		2197	4298	6495	SO:0001583	missense	55784	exon11			CTACAAGTGAAGG	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1537G>A	chr15.hg19:g.94913364G>A	ENSP00000350377:p.Val513Met	119.0	0.0		106.0	20.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423026	0.83559	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.75938	-0.98;-0.98;-0.98	5.84	5.84	0.93424	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052097	0.85682	D	0.000000	D	0.88492	0.6451	M	0.85041	2.73	0.80722	D	1	P;D;D	0.89917	0.927;0.999;1.0	D;D;D	0.85130	0.919;0.992;0.997	D	0.88848	0.3317	10	0.62326	D	0.03	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	513;101;513	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	M	513;101;513	ENSP00000395109:V513M;ENSP00000329646:V101M;ENSP00000350377:V513M	ENSP00000329646:V101M	V	+	1	0	MCTP2	92714368	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.769000	0.85360	2.748000	0.94277	0.650000	0.86243	GTG	.	.		0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
IGF1R	3480	hgsc.bcm.edu	37	15	99478555	99478555	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:99478555T>A	ENST00000268035.6	+	17	3808	c.3197T>A	c.(3196-3198)cTg>cAg	p.L1066Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.L1065Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1066	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTGCGATTGCTGGGTGTGGTG	0.547																																					p.L1066Q		Atlas-SNP	.											.	IGF1R	147	.	0			c.T3197A						.						77.0	65.0	69.0					15																	99478555		1941	3777	5718	SO:0001583	missense	3480	exon17			GATTGCTGGGTGT	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3197T>A	chr15.hg19:g.99478555T>A	ENSP00000268035:p.Leu1066Gln	87.0	0.0		75.0	35.0	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783494	0.90282	.	.	ENSG00000140443	ENST00000268035	D	0.90620	-2.7	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	D	0.000651	D	0.96204	0.8762	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97127	0.9815	10	0.87932	D	0	.	15.2481	0.73521	0.0:0.0:0.0:1.0	.	1065;1066	C9J5X1;P08069	.;IGF1R_HUMAN	Q	1066	ENSP00000268035:L1066Q	ENSP00000268035:L1066Q	L	+	2	0	IGF1R	97296078	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.015000	0.59207	0.533000	0.62120	CTG	.	.		0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
LRRK1	79705	hgsc.bcm.edu	37	15	101598240	101598240	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:101598240T>A	ENST00000388948.3	+	29	4932	c.4573T>A	c.(4573-4575)Ttt>Att	p.F1525I	LRRK1_ENST00000284395.5_Missense_Mutation_p.F1522I|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGACCCGACTTTTGCCACCTT	0.557																																					p.F1525I		Atlas-SNP	.											.	LRRK1	310	.	0			c.T4573A						.						97.0	98.0	98.0					15																	101598240		1994	4157	6151	SO:0001583	missense	79705	exon29			CCGACTTTTGCCA	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4573T>A	chr15.hg19:g.101598240T>A	ENSP00000373600:p.Phe1525Ile	80.0	0.0		55.0	24.0	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134767	0.77662	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.75477	-0.92;-0.94	4.57	4.57	0.56435	Protein kinase, catalytic domain (1);	0.207715	0.43747	D	0.000534	D	0.83608	0.5291	M	0.61703	1.905	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	D	0.84993	0.0895	10	0.56958	D	0.05	.	14.2612	0.66085	0.0:0.0:0.0:1.0	.	1525	Q38SD2	LRRK1_HUMAN	I	1525;1522;216;79	ENSP00000373600:F1525I;ENSP00000284395:F1522I	ENSP00000284395:F1522I	F	+	1	0	LRRK1	99415763	1.000000	0.71417	0.953000	0.39169	0.555000	0.35460	6.938000	0.75904	1.835000	0.53391	0.459000	0.35465	TTT	.	.		0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
LRRK1	79705	hgsc.bcm.edu	37	15	101605833	101605833	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:101605833A>G	ENST00000388948.3	+	32	5550	c.5191A>G	c.(5191-5193)Atg>Gtg	p.M1731V	LRRK1_ENST00000284395.5_Missense_Mutation_p.M1728V|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGCCCTACATGGCCCCCTC	0.617																																					p.M1731V		Atlas-SNP	.											.	LRRK1	310	.	0			c.A5191G						.						66.0	78.0	74.0					15																	101605833		2088	4215	6303	SO:0001583	missense	79705	exon32			CCCTACATGGCCC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5191A>G	chr15.hg19:g.101605833A>G	ENSP00000373600:p.Met1731Val	71.0	0.0		55.0	27.0	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182567	0.01620	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.69685	-0.42;-0.42	5.7	-6.66	0.01789	WD40 repeat-like-containing domain (1);	1.871250	0.02048	N	0.049842	T	0.37517	0.1006	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.27082	T	0.32	.	5.0728	0.14615	0.4641:0.0578:0.3406:0.1375	.	1731	Q38SD2	LRRK1_HUMAN	V	1731;1728;422;285	ENSP00000373600:M1731V;ENSP00000284395:M1728V	ENSP00000284395:M1728V	M	+	1	0	LRRK1	99423356	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.304000	0.02741	-2.243000	0.00707	-2.208000	0.00301	ATG	.	.		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
TARSL2	123283	hgsc.bcm.edu	37	15	102252089	102252089	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr15:102252089T>C	ENST00000335968.3	-	5	1022	c.806A>G	c.(805-807)gAa>gGa	p.E269G		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	269					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACCTGTCTTCAATGAACAT	0.428																																					p.E269G		Atlas-SNP	.											.	TARSL2	63	.	0			c.A806G						.						94.0	85.0	88.0					15																	102252089		2203	4300	6503	SO:0001583	missense	123283	exon5			CTGTCTTCAATGA	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.806A>G	chr15.hg19:g.102252089T>C	ENSP00000338093:p.Glu269Gly	74.0	0.0		67.0	15.0	NM_152334	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	hg19	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	T	9.102	1.004479	0.19199	.	.	ENSG00000185418	ENST00000335968;ENST00000539112	.	.	.	5.49	1.63	0.23807	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.276251	0.41396	N	0.000888	T	0.24236	0.0587	N	0.05280	-0.08	0.42438	D	0.9927	B	0.10296	0.003	B	0.12837	0.008	T	0.04153	-1.0973	9	0.15499	T	0.54	-5.3897	5.8254	0.18550	0.0:0.1559:0.1406:0.7034	.	269	A2RTX5	SYTC2_HUMAN	G	269	.	ENSP00000338093:E269G	E	-	2	0	TARSL2	100069612	0.993000	0.37304	0.185000	0.23176	0.855000	0.48748	1.710000	0.37920	0.016000	0.14998	0.433000	0.28618	GAA	.	.		0.428	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
RHBDF1	64285	hgsc.bcm.edu	37	16	114754	114754	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:114754T>C	ENST00000262316.6	-	3	333	c.191A>G	c.(190-192)cAt>cGt	p.H64R	RHBDF1_ENST00000454039.2_Missense_Mutation_p.H64R	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	64					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCGGAGCTCATGGTGGGGTGA	0.642																																					p.H64R		Atlas-SNP	.											.	RHBDF1	54	.	0			c.A191G						.						101.0	106.0	104.0					16																	114754		2203	4300	6503	SO:0001583	missense	64285	exon3			AGCTCATGGTGGG	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.191A>G	chr16.hg19:g.114754T>C	ENSP00000262316:p.His64Arg	66.0	0.0		44.0	20.0	NM_022450	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	hg19	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	5.691	0.311967	0.10789	.	.	ENSG00000007384	ENST00000262316;ENST00000454039;ENST00000338527;ENST00000450643;ENST00000420545;ENST00000419764	T;T;D	0.85339	0.84;-0.02;-1.97	5.62	-3.8	0.04307	.	0.764923	0.13222	N	0.404326	T	0.69278	0.3093	N	0.08118	0	0.20307	N	0.999912	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.002;0.0	T	0.44862	-0.9300	10	0.16420	T	0.52	2.0E-4	19.1641	0.93546	0.0:0.0:0.7182:0.2817	.	64;87;64	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	R	64	ENSP00000262316:H64R;ENSP00000392133:H64R;ENSP00000408915:H64R	ENSP00000262316:H64R	H	-	2	0	RHBDF1	54754	0.992000	0.36948	0.006000	0.13384	0.247000	0.25773	0.813000	0.27225	-0.570000	0.06022	-0.331000	0.08364	CAT	.	.		0.642	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450	
PDIA2	64714	hgsc.bcm.edu	37	16	333349	333349	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:333349T>A	ENST00000219406.6	+	1	198	c.180T>A	c.(178-180)ccT>ccA	p.P60P	PDIA2_ENST00000404312.1_Silent_p.P60P	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	60	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGAGCACCCTGCCCTGCTGG	0.701																																					p.P60P		Atlas-SNP	.											.	PDIA2	51	.	0			c.T180A						.						24.0	32.0	29.0					16																	333349		1941	4135	6076	SO:0001819	synonymous_variant	64714	exon1			GCACCCTGCCCTG	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.180T>A	chr16.hg19:g.333349T>A		67.0	0.0		47.0	27.0	NM_006849	A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Silent	SNP	ENST00000219406.6	hg19	CCDS42089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.243|0.243	-1.012534|-1.012534	0.02095|0.02095	.|.	.|.	ENSG00000185615|ENSG00000185615	ENST00000455994|ENST00000456379	.|.	.|.	.|.	3.82|3.82	-7.63|-7.63	0.01290|0.01290	.|.	.|.	.|.	.|.	.|.	T|T	0.16896|0.16896	0.0406|0.0406	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.15292|0.15292	-1.0442|-1.0442	5|4	0.87932|.	D|.	0|.	.|.	2.8748|2.8748	0.05628|0.05628	0.2254:0.296:0.3667:0.1119|0.2254:0.296:0.3667:0.1119	.|.	.|.	.|.	.|.	S|Q	42|57	.|.	ENSP00000415084:C42S|.	C|L	+|+	1|2	0|0	PDIA2|PDIA2	273350|273350	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.847000|0.847000	0.48162|0.48162	-2.182000|-2.182000	0.01256|0.01256	-2.542000|-2.542000	0.00485|0.00485	-0.373000|-0.373000	0.07131|0.07131	TGC|CTG	.	.		0.701	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849	
CCDC78	124093	hgsc.bcm.edu	37	16	774367	774367	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:774367A>T	ENST00000293889.6	-	9	1013	c.908T>A	c.(907-909)cTg>cAg	p.L303Q	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	303					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CAGATCCACCAGCCTCTTGTG	0.652																																					p.L303Q		Atlas-SNP	.											.	CCDC78	26	.	0			c.T908A						.						64.0	73.0	70.0					16																	774367		2198	4295	6493	SO:0001583	missense	124093	exon9			TCCACCAGCCTCT	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.908T>A	chr16.hg19:g.774367A>T	ENSP00000293889:p.Leu303Gln	37.0	0.0		41.0	20.0	NM_001031737	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	hg19	CCDS32353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.03|15.03	2.710942|2.710942	0.48517|0.48517	.|.	.|.	ENSG00000162004|ENSG00000162004	ENST00000293889|ENST00000345165	T|.	0.36699|.	1.24|.	5.38|5.38	4.3|4.3	0.51218|0.51218	.|.	0.137793|.	0.45606|.	D|.	0.000342|.	T|T	0.47002|0.47002	0.1422|0.1422	L|L	0.48642|0.48642	1.525|1.525	0.32213|0.32213	N|N	0.57623|0.57623	D;D;D|.	0.76494|.	0.998;0.999;0.999|.	D;D;D|.	0.71656|.	0.962;0.974;0.962|.	T|T	0.55211|0.55211	-0.8176|-0.8176	10|5	0.72032|.	D|.	0.01|.	-14.134|-14.134	8.7357|8.7357	0.34528|0.34528	0.9101:0.0:0.0899:0.0|0.9101:0.0:0.0899:0.0	.|.	62;303;152|.	D3DU63;A2IDD5;D3DU61|.	.;CCD78_HUMAN;.|.	Q|R	303|152	ENSP00000293889:L303Q|.	ENSP00000293889:L303Q|.	L|W	-|-	2|1	0|0	CCDC78|CCDC78	714368|714368	0.004000|0.004000	0.15560|0.15560	0.995000|0.995000	0.50966|0.50966	0.014000|0.014000	0.08584|0.08584	1.645000|1.645000	0.37238|0.37238	2.038000|2.038000	0.60285|0.60285	0.444000|0.444000	0.29173|0.29173	CTG|TGG	.	.		0.652	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476	
CACNA1H	8912	hgsc.bcm.edu	37	16	1270071	1270071	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:1270071A>G	ENST00000348261.5	+	35	6387	c.6139A>G	c.(6139-6141)Agg>Ggg	p.R2047G	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2041G|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2041G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2047					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AACCCCGGTGAGGCCGGTGAC	0.662																																					p.R2047G		Atlas-SNP	.											.	CACNA1H	317	.	0			c.A6139G						.						15.0	19.0	18.0					16																	1270071		1928	4108	6036	SO:0001583	missense	8912	exon35			CCGGTGAGGCCGG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6139A>G	chr16.hg19:g.1270071A>G	ENSP00000334198:p.Arg2047Gly	109.0	0.0		84.0	39.0	NM_021098	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	hg19	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396197	0.25205	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96491	-4.03;-3.98	4.62	0.818	0.18778	.	3.663200	0.00810	N	0.001492	D	0.90277	0.6959	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29716	0.075;0.036;0.255;0.0;0.02	B;B;B;B;B	0.20184	0.027;0.028;0.023;0.001;0.018	T	0.83200	-0.0079	10	0.23891	T	0.37	.	10.4864	0.44724	0.5792:0.4208:0.0:0.0	.	793;771;777;2041;2047	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	G	2047;2041	ENSP00000334198:R2047G;ENSP00000351401:R2041G	ENSP00000334198:R2047G	R	+	1	2	CACNA1H	1210072	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.131000	0.10482	-0.032000	0.13758	0.254000	0.18369	AGG	.	.		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
TELO2	9894	hgsc.bcm.edu	37	16	1551726	1551726	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:1551726G>A	ENST00000262319.6	+	11	1703	c.1424G>A	c.(1423-1425)gGc>gAc	p.G475D	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	475					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATCGTGGATGGCGGCGTCCCC	0.652																																					p.G475D		Atlas-SNP	.											.	TELO2	44	.	0			c.G1424A						.						45.0	55.0	51.0					16																	1551726		2199	4300	6499	SO:0001583	missense	9894	exon11			TGGATGGCGGCGT	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1424G>A	chr16.hg19:g.1551726G>A	ENSP00000262319:p.Gly475Asp	24.0	0.0		20.0	11.0	NM_016111	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	hg19	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	4.336	0.061679	0.08339	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.13307	2.6	4.45	0.133	0.14766	.	1.473200	0.03126	N	0.164575	T	0.09468	0.0233	L	0.36672	1.1	0.09310	N	1	B	0.28233	0.204	B	0.24006	0.05	T	0.23084	-1.0198	10	0.14252	T	0.57	0.7029	1.5534	0.02580	0.1929:0.1643:0.4736:0.1691	.	475	Q9Y4R8	TELO2_HUMAN	D	89;475	ENSP00000262319:G475D	ENSP00000262319:G475D	G	+	2	0	TELO2	1491727	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.175000	0.16762	-0.007000	0.14345	0.655000	0.94253	GGC	.	.		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111	
TBL3	10607	hgsc.bcm.edu	37	16	2026270	2026270	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:2026270A>T	ENST00000568546.1	+	13	1375	c.1247A>T	c.(1246-1248)cAg>cTg	p.Q416L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	416					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGCGTGGCTCAGGGTTCCGGT	0.637																																					p.Q416L	Melanoma(118;616 1651 35077 38081 48633)	Atlas-SNP	.											.	TBL3	54	.	0			c.A1247T						.						117.0	80.0	92.0					16																	2026270		2198	4299	6497	SO:0001583	missense	10607	exon13			TGGCTCAGGGTTC	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1247A>T	chr16.hg19:g.2026270A>T	ENSP00000454836:p.Gln416Leu	87.0	0.0		63.0	29.0	NM_006453	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	hg19	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	A	5.834	0.338180	0.11069	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.99	3.82	0.43975	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.435265	0.19833	N	0.105047	T	0.22399	0.0540	N	0.04132	-0.27	0.51233	D	0.999917	B;P	0.35527	0.005;0.507	B;B	0.33568	0.038;0.166	T	0.05903	-1.0857	9	0.37606	T	0.19	-14.9031	7.3119	0.26479	0.8043:0.0:0.0:0.1957	.	178;416	A0JLS5;Q12788	.;TBL3_HUMAN	L	416	.	ENSP00000331815:Q416L	Q	+	2	0	TBL3	1966271	0.985000	0.35326	1.000000	0.80357	0.284000	0.27059	1.606000	0.36826	1.874000	0.54306	0.459000	0.35465	CAG	.	.		0.637	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	
ZNF598	90850	hgsc.bcm.edu	37	16	2048704	2048704	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:2048704T>A	ENST00000563630.1	-	11	2437	c.2195A>T	c.(2194-2196)cAg>cTg	p.Q732L	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Splice_Site_p.Q732L|ZNF598_ENST00000431526.1_Splice_Site_p.Q787L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	787	Pro-rich.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGCCTGACCTGTCTGAACTC	0.672																																					p.Q787L		Atlas-SNP	.											.	ZNF598	55	.	0			c.A2360T						.						10.0	11.0	10.0					16																	2048704		1860	4076	5936	SO:0001630	splice_region_variant	90850	exon13			CTGACCTGTCTGA	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.2196+1A>T	chr16.hg19:g.2048704T>A		73.0	0.0		64.0	27.0	NM_178167	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	hg19		.	.	.	.	.	.	.	.	.	.	.	14.51	2.557353	0.45590	.	.	ENSG00000167962	ENST00000431526	T	0.20881	2.04	4.73	4.73	0.59995	.	0.058623	0.64402	D	0.000001	T	0.47801	0.1465	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69479	0.943;0.964	T	0.54070	-0.8348	10	0.62326	D	0.03	-28.0265	13.5873	0.61940	0.0:0.0:0.0:1.0	.	787;779	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	L	787	ENSP00000411409:Q787L	ENSP00000411409:Q787L	Q	-	2	0	ZNF598	1988705	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.561000	0.60809	1.996000	0.58369	0.374000	0.22700	CAG	.	.		0.672	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167	Missense_Mutation
E4F1	1877	hgsc.bcm.edu	37	16	2282755	2282755	+	Splice_Site	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:2282755A>C	ENST00000301727.4	+	6	778		c.e6-1		E4F1_ENST00000564139.1_Splice_Site|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000565090.1_Splice_Site	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TTCTCTCTGCAGATGAGCGCC	0.637																																					.		Atlas-SNP	.											.	E4F1	53	.	0			c.731-2A>C						.						52.0	61.0	58.0					16																	2282755		2196	4300	6496	SO:0001630	splice_region_variant	1877	exon6			CTCTGCAGATGAG	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.731-1A>C	chr16.hg19:g.2282755A>C		56.0	0.0		36.0	21.0	NM_004424	A8K2R4|O00146	Splice_Site	SNP	ENST00000301727.4	hg19	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.616415	0.28801	.	.	ENSG00000167967	ENST00000301727	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7005	0.69152	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	E4F1	2222756	1.000000	0.71417	0.819000	0.32651	0.398000	0.30690	9.109000	0.94291	2.154000	0.67381	0.459000	0.35465	.	.	.		0.637	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	Intron
ABCA3	21	hgsc.bcm.edu	37	16	2348543	2348543	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:2348543T>C	ENST00000301732.5	-	15	2442		c.e15-2		ABCA3_ENST00000382381.3_Splice_Site	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3						response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAAAGAGACCTGGGGCCCAGC	0.602																																					.		Atlas-SNP	.											.	ABCA3	176	.	0			c.1742-2A>G						.						53.0	53.0	53.0					16																	2348543		2198	4300	6498	SO:0001630	splice_region_variant	21	exon16			GAGACCTGGGGCC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1742-2A>G	chr16.hg19:g.2348543T>C		62.0	0.0		74.0	31.0	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Splice_Site	SNP	ENST00000301732.5	hg19	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.703639	0.30232	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2293	0.73374	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA3	2288544	1.000000	0.71417	0.760000	0.31359	0.145000	0.21501	2.991000	0.49409	2.281000	0.76405	0.533000	0.62120	.	.	.		0.602	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Intron
C16orf89	146556	hgsc.bcm.edu	37	16	5112500	5112500	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:5112500A>T	ENST00000315997.5	-	2	485	c.284T>A	c.(283-285)cTg>cAg	p.L95Q	C16orf89_ENST00000350219.4_Missense_Mutation_p.L133Q|C16orf89_ENST00000472572.3_Missense_Mutation_p.L95Q|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.L95Q|C16orf89_ENST00000422873.1_Missense_Mutation_p.L133Q	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	95						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CTTCTCCCCCAGCATCCCCAC	0.587																																					p.L95Q		Atlas-SNP	.											.	C16orf89	64	.	0			c.T284A						.						60.0	63.0	62.0					16																	5112500		1992	4173	6165	SO:0001583	missense	146556	exon2			TCCCCCAGCATCC		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.284T>A	chr16.hg19:g.5112500A>T	ENSP00000324672:p.Leu95Gln	61.0	0.0		60.0	30.0	NM_001098514	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	hg19	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097164	0.37048	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.98	4.98	0.66077	.	0.378221	0.22649	N	0.057359	T	0.56688	0.2002	L	0.56769	1.78	0.09310	N	0.999999	D;D	0.76494	0.999;0.996	D;D	0.66196	0.942;0.931	T	0.50906	-0.8772	10	0.56958	D	0.05	-28.942	11.0561	0.47920	1.0:0.0:0.0:0.0	.	95;133	Q6UX73;G3V0F0	CP089_HUMAN;.	Q	95;95;95;133;133;95	ENSP00000417158:L95Q;ENSP00000420566:L95Q;ENSP00000390402:L133Q;ENSP00000283478:L133Q;ENSP00000324672:L95Q	ENSP00000324672:L95Q	L	-	2	0	C16orf89	5052501	0.395000	0.25254	0.341000	0.25589	0.005000	0.04900	4.352000	0.59404	1.880000	0.54463	0.379000	0.24179	CTG	.	.		0.587	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459	
CLEC16A	23274	hgsc.bcm.edu	37	16	11076808	11076808	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:11076808A>T	ENST00000409790.1	+	10	1261	c.1031A>T	c.(1030-1032)gAg>gTg	p.E344V	CLEC16A_ENST00000409552.3_Missense_Mutation_p.E342V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATCTGTCTGAGATGTACGCT	0.413																																					p.E344V		Atlas-SNP	.											.	CLEC16A	101	.	0			c.A1031T						.						108.0	102.0	104.0					16																	11076808		1912	4139	6051	SO:0001583	missense	23274	exon9			TGTCTGAGATGTA	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1031A>T	chr16.hg19:g.11076808A>T	ENSP00000387122:p.Glu344Val	51.0	0.0		57.0	25.0	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	hg19	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153373	0.38021	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.41758	0.99	5.64	4.52	0.55395	.	0.054680	0.64402	D	0.000001	T	0.09335	0.0230	N	0.00082	-2.215	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12656	-1.0539	10	0.27082	T	0.32	-26.626	8.1531	0.31152	0.6438:0.0:0.0:0.3562	.	344;342	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	V	344;344;342	ENSP00000387122:E344V	ENSP00000386495:E342V	E	+	2	0	CLEC16A	10984309	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.044000	0.57361	2.144000	0.66660	0.533000	0.62120	GAG	.	.		0.413	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
MKL2	57496	hgsc.bcm.edu	37	16	14340581	14340581	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:14340581A>T	ENST00000341243.5	+	10	1431	c.1431A>T	c.(1429-1431)acA>acT	p.T477T	MKL2_ENST00000574045.1_Silent_p.T488T|MKL2_ENST00000571589.1_Silent_p.T488T|MKL2_ENST00000318282.5_Silent_p.T488T			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	477					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCCACCTACAGGAACCAGCA	0.502																																					p.T488T		Atlas-SNP	.											.	MKL2	103	.	0			c.A1464T						.						213.0	193.0	200.0					16																	14340581		2197	4300	6497	SO:0001819	synonymous_variant	57496	exon12			ACCTACAGGAACC	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1431A>T	chr16.hg19:g.14340581A>T		83.0	0.0		68.0	36.0	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	hg19																																																																																				.	.		0.502	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
XYLT1	64131	hgsc.bcm.edu	37	16	17353092	17353092	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:17353092T>C	ENST00000261381.6	-	3	750	c.666A>G	c.(664-666)agA>agG	p.R222R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	222					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGCTGCGGCTCTGTCCCCGG	0.592																																					p.R222R		Atlas-SNP	.											.	XYLT1	147	.	0			c.A666G						.						105.0	117.0	113.0					16																	17353092		2197	4300	6497	SO:0001819	synonymous_variant	64131	exon3			TGCGGCTCTGTCC	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.666A>G	chr16.hg19:g.17353092T>C		87.0	0.0		86.0	40.0	NM_022166	Q9H1B6	Silent	SNP	ENST00000261381.6	hg19	CCDS10569.1																																																																																			.	.		0.592	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
TMC7	79905	hgsc.bcm.edu	37	16	19033071	19033071	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:19033071A>G	ENST00000304381.5	+	4	711	c.581A>G	c.(580-582)tAc>tGc	p.Y194C	TMC7_ENST00000421369.3_Missense_Mutation_p.Y84C|TMC7_ENST00000569532.1_Missense_Mutation_p.Y194C	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	194					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTCACGAAATACAAGATCACC	0.423																																					p.Y194C		Atlas-SNP	.											.	TMC7	75	.	0			c.A581G						.						169.0	138.0	148.0					16																	19033071		2197	4300	6497	SO:0001583	missense	79905	exon4			CGAAATACAAGAT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.581A>G	chr16.hg19:g.19033071A>G	ENSP00000304710:p.Tyr194Cys	109.0	0.0		103.0	37.0	NM_024847	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	hg19	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919639	0.33908	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.51574	0.7;0.7	5.04	3.93	0.45458	.	0.289586	0.29838	N	0.011073	T	0.55878	0.1948	L	0.43152	1.355	0.40671	D	0.982216	D;P;D	0.76494	0.999;0.887;0.957	D;P;P	0.66847	0.947;0.593;0.719	T	0.53394	-0.8445	10	0.39692	T	0.17	.	10.4775	0.44674	0.854:0.0:0.0:0.146	.	194;194;194	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	C	194;84	ENSP00000304710:Y194C;ENSP00000397081:Y84C	ENSP00000304710:Y194C	Y	+	2	0	TMC7	18940572	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	6.440000	0.73435	0.851000	0.35264	-0.509000	0.04479	TAC	.	.		0.423	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	
GPR139	124274	hgsc.bcm.edu	37	16	20084903	20084903	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:20084903G>C	ENST00000570682.1	-	1	336	c.36C>G	c.(34-36)agC>agG	p.S12R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	12					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGACAGCGAGCTGTTGGCTG	0.701																																					p.S12R		Atlas-SNP	.											.	GPR139	75	.	0			c.C36G						.						33.0	34.0	34.0					16																	20084903		2203	4299	6502	SO:0001583	missense	124274	exon1			CAGCGAGCTGTTG	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.36C>G	chr16.hg19:g.20084903G>C	ENSP00000458791:p.Ser12Arg	126.0	0.0		115.0	52.0	NM_001002911	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	hg19	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999051	0.54147	.	.	ENSG00000180269	ENST00000326571	.	.	.	4.32	4.32	0.51571	.	0.429903	0.19621	N	0.109902	T	0.31231	0.0790	N	0.08118	0	0.35835	D	0.825609	B	0.06786	0.001	B	0.08055	0.003	T	0.30119	-0.9989	9	0.27082	T	0.32	-18.8853	12.1817	0.54216	0.0:0.0:1.0:0.0	.	12	Q6DWJ6	GP139_HUMAN	R	12	.	ENSP00000370779:S12R	S	-	3	2	GPR139	19992404	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.205000	0.42770	2.216000	0.71823	0.455000	0.32223	AGC	.	.		0.701	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911	
ACSM3	6296	hgsc.bcm.edu	37	16	20788756	20788756	+	Missense_Mutation	SNP	A	A	T	rs545664454		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:20788756A>T	ENST00000289416.5	+	4	967	c.492A>T	c.(490-492)caA>caT	p.Q164H	ACSM3_ENST00000440284.2_Missense_Mutation_p.Q164H|ACSM3_ENST00000450120.2_Missense_Mutation_p.Q119H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	164					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACAGACTACAATCTTCAAAAG	0.408																																					p.Q164H		Atlas-SNP	.											.	ACSM3	113	.	0			c.A492T						.						93.0	90.0	91.0					16																	20788756		2201	4300	6501	SO:0001583	missense	6296	exon4			ACTACAATCTTCA	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.492A>T	chr16.hg19:g.20788756A>T	ENSP00000289416:p.Gln164His	107.0	0.0		91.0	46.0	NM_005622	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	hg19	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	9.010	0.982226	0.18889	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.42900	0.96;0.96;0.96	6.05	-4.53	0.03462	AMP-dependent synthetase/ligase (1);	0.130941	0.52532	D	0.000062	T	0.28300	0.0699	L	0.33189	0.99	0.18873	N	0.999987	B;B;P	0.45212	0.234;0.154;0.853	B;B;B	0.37451	0.25;0.149;0.196	T	0.27971	-1.0058	10	0.66056	D	0.02	-8.6757	17.251	0.87042	0.3899:0.0:0.6101:0.0	.	119;164;164	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	H	164;164;119	ENSP00000289416:Q164H;ENSP00000394565:Q164H;ENSP00000395297:Q119H	ENSP00000289416:Q164H	Q	+	3	2	ACSM3	20696257	0.000000	0.05858	0.261000	0.24466	0.001000	0.01503	-0.372000	0.07504	-1.314000	0.02300	-1.867000	0.00556	CAA	.	.		0.408	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
DNAH3	55567	hgsc.bcm.edu	37	16	21136500	21136500	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:21136500T>G	ENST00000261383.3	-	9	1399	c.1400A>C	c.(1399-1401)cAc>cCc	p.H467P	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.H467P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	467	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTACTTTGTGTATCATGAA	0.468																																					p.H467P		Atlas-SNP	.											.	DNAH3	1142	.	0			c.A1400C						.						95.0	91.0	92.0					16																	21136500		2201	4300	6501	SO:0001583	missense	55567	exon9			ACTTTGTGTATCA	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1400A>C	chr16.hg19:g.21136500T>G	ENSP00000261383:p.His467Pro	51.0	0.0		68.0	35.0	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	hg19	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911241	0.33721	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22539	1.95;2.1	5.63	4.54	0.55810	.	0.181972	0.36778	N	0.002415	T	0.33876	0.0878	L	0.47016	1.485	0.48762	D	0.999704	B;D	0.63046	0.025;0.992	B;D	0.65010	0.014;0.931	T	0.02184	-1.1199	10	0.31617	T	0.26	.	10.692	0.45877	0.0:0.0759:0.0:0.9241	.	467;438	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	P	467;467;438	ENSP00000261383:H467P;ENSP00000394245:H467P	ENSP00000261383:H467P	H	-	2	0	DNAH3	21044001	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	6.229000	0.72294	0.980000	0.38523	0.533000	0.62120	CAC	.	.		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ZP2	7783	hgsc.bcm.edu	37	16	21215496	21215496	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:21215496G>A	ENST00000574002.1	-	10	1309	c.827C>T	c.(826-828)aCc>aTc	p.T276I	ZP2_ENST00000574091.1_Missense_Mutation_p.T276I|ZP2_ENST00000219593.4_Missense_Mutation_p.T276I|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	276					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTCTGGTATGGTGAGAGTCAT	0.448																																					p.T276I		Atlas-SNP	.											.	ZP2	92	.	0			c.C827T						.						102.0	91.0	95.0					16																	21215496		2200	4300	6500	SO:0001583	missense	7783	exon9			GGTATGGTGAGAG	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.827C>T	chr16.hg19:g.21215496G>A	ENSP00000460971:p.Thr276Ile	78.0	0.0		42.0	18.0	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	hg19	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041156	0.35989	.	.	ENSG00000103310	ENST00000219593	T	0.48836	0.8	6.08	2.55	0.30701	.	0.577135	0.18492	N	0.139620	T	0.54224	0.1845	L	0.54908	1.71	0.24118	N	0.995814	D;B;B	0.89917	1.0;0.059;0.027	D;B;B	0.68943	0.961;0.024;0.018	T	0.36601	-0.9741	10	0.28530	T	0.3	-2.4717	4.9809	0.14164	0.1301:0.1293:0.608:0.1326	.	276;276;276	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	I	276	ENSP00000219593:T276I	ENSP00000219593:T276I	T	-	2	0	ZP2	21122997	0.969000	0.33509	0.958000	0.39756	0.993000	0.82548	1.670000	0.37502	0.862000	0.35528	0.655000	0.94253	ACC	.	.		0.448	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
POLR3E	55718	hgsc.bcm.edu	37	16	22316495	22316495	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:22316495A>G	ENST00000299853.5	+	3	222	c.55A>G	c.(55-57)Aag>Gag	p.K19E	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000359210.4_Missense_Mutation_p.K19E|POLR3E_ENST00000564209.1_Missense_Mutation_p.K19E|POLR3E_ENST00000418581.2_Intron	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	19					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GTACTTGGCCAAGAGTCTGGC	0.532																																					p.K19E		Atlas-SNP	.											.	POLR3E	62	.	0			c.A55G						.						191.0	178.0	182.0					16																	22316495		2197	4300	6497	SO:0001583	missense	55718	exon3			TTGGCCAAGAGTC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.55A>G	chr16.hg19:g.22316495A>G	ENSP00000299853:p.Lys19Glu	76.0	0.0		71.0	29.0	NM_001258033	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	hg19	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	A	31	5.099329	0.94197	.	.	ENSG00000058600	ENST00000299853;ENST00000359210	T;T	0.46819	0.86;0.86	5.51	5.51	0.81932	.	0.097108	0.64402	D	0.000001	T	0.66287	0.2774	M	0.79011	2.435	0.58432	D	0.999995	D;D;D;D	0.63046	0.992;0.99;0.992;0.99	P;P;P;P	0.60415	0.874;0.731;0.825;0.801	T	0.71586	-0.4548	10	0.87932	D	0	-12.7431	14.614	0.68534	1.0:0.0:0.0:0.0	.	19;19;19;19	B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;RPC5_HUMAN;.	E	19	ENSP00000299853:K19E;ENSP00000352140:K19E	ENSP00000299853:K19E	K	+	1	0	POLR3E	22223996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.271000	0.78506	2.094000	0.63399	0.459000	0.35465	AAG	.	.		0.532	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119	
USP31	57478	hgsc.bcm.edu	37	16	23080584	23080584	+	Missense_Mutation	SNP	C	C	A	rs34435034		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:23080584C>A	ENST00000219689.7	-	16	2841	c.2842G>T	c.(2842-2844)Gtg>Ttg	p.V948L	USP31_ENST00000567975.1_Missense_Mutation_p.V241L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTGAACACGCCTTCCATG	0.577																																					p.V948L		Atlas-SNP	.											.	USP31	122	.	0			c.G2842T						.						86.0	88.0	87.0					16																	23080584		2197	4300	6497	SO:0001583	missense	57478	exon16			TGAACACGCCTTC	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2842G>T	chr16.hg19:g.23080584C>A	ENSP00000219689:p.Val948Leu	79.0	0.0		52.0	23.0	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	hg19	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282242	0.40394	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08193	3.12	6.06	4.13	0.48395	.	1.277350	0.05869	N	0.624252	T	0.07728	0.0194	N	0.22421	0.69	0.29065	N	0.88364	B;B;B	0.25441	0.102;0.061;0.126	B;B;B	0.28011	0.085;0.01;0.044	T	0.38802	-0.9644	10	0.09590	T	0.72	-11.5201	11.8951	0.52652	0.0:0.8609:0.0:0.1391	.	251;948;241	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	L	948;251	ENSP00000219689:V948L	ENSP00000219689:V948L	V	-	1	0	USP31	22988085	0.669000	0.27502	0.996000	0.52242	0.978000	0.69477	1.460000	0.35244	0.903000	0.36546	0.650000	0.86243	GTG	.	C|0.999;T|0.001		0.577	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
CACNG3	10368	hgsc.bcm.edu	37	16	24373102	24373102	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:24373102T>A	ENST00000005284.3	+	4	2068	c.866T>A	c.(865-867)cTa>cAa	p.L289Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	289					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACGCTTTTCTACAGTTCCAC	0.552																																					p.L289Q		Atlas-SNP	.											.	CACNG3	112	.	0			c.T866A						.						83.0	89.0	87.0					16																	24373102		2197	4300	6497	SO:0001583	missense	10368	exon4			CTTTTCTACAGTT	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.866T>A	chr16.hg19:g.24373102T>A	ENSP00000005284:p.Leu289Gln	96.0	0.0		94.0	40.0	NM_006539		Missense_Mutation	SNP	ENST00000005284.3	hg19	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	t	19.26	3.792955	0.70452	.	.	ENSG00000006116	ENST00000005284	T	0.61040	0.14	4.93	4.93	0.64822	.	0.159575	0.42682	D	0.000672	T	0.73567	0.3603	M	0.73962	2.25	0.49213	D	0.999768	D	0.67145	0.996	D	0.64595	0.927	T	0.77902	-0.2414	10	0.87932	D	0	-2.8647	14.3047	0.66377	0.0:0.0:0.0:1.0	.	289	O60359	CCG3_HUMAN	Q	289	ENSP00000005284:L289Q	ENSP00000005284:L289Q	L	+	2	0	CACNG3	24280603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.695000	0.84257	1.839000	0.53478	0.524000	0.50904	CTA	.	.		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
HS3ST4	9951	hgsc.bcm.edu	37	16	26147136	26147136	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:26147136T>G	ENST00000331351.5	+	2	1330	c.938T>G	c.(937-939)gTg>gGg	p.V313G	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	313					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ACCTTTGAGGTGCTGGCCTTC	0.532																																					p.V313G		Atlas-SNP	.											.	HS3ST4	120	.	0			c.T938G						.						167.0	159.0	161.0					16																	26147136		1568	3582	5150	SO:0001583	missense	9951	exon2			TTGAGGTGCTGGC	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.938T>G	chr16.hg19:g.26147136T>G	ENSP00000330606:p.Val313Gly	97.0	0.0		110.0	43.0	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	hg19	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.910367	0.33721	.	.	ENSG00000182601	ENST00000331351	T	0.52983	0.64	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000013	T	0.26810	0.0656	N	0.04508	-0.205	0.80722	D	1	B	0.13145	0.007	B	0.15870	0.014	T	0.09378	-1.0677	10	0.22706	T	0.39	.	14.5047	0.67746	0.0:0.0:0.0:1.0	.	313	Q9Y661	HS3S4_HUMAN	G	313	ENSP00000330606:V313G	ENSP00000330606:V313G	V	+	2	0	HS3ST4	26054637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.036000	0.64164	2.015000	0.59207	0.533000	0.62120	GTG	.	.		0.532	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
IL4R	3566	hgsc.bcm.edu	37	16	27374493	27374493	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:27374493C>G	ENST00000395762.2	+	11	2079	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.S592*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.S607*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.S607*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	607	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S607*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AAGGCCTTCTCAAGCCTGCTT	0.597																																					p.S607X		Atlas-SNP	.											IL4R,NS,carcinoma,0,1	IL4R	70	.	1	Substitution - Nonsense(1)	lung(1)	c.C1820G						.						36.0	39.0	38.0					16																	27374493		2196	4300	6496	SO:0001587	stop_gained	3566	exon11			CCTTCTCAAGCCT	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1820C>G	chr16.hg19:g.27374493C>G	ENSP00000379111:p.Ser607*	34.0	0.0		40.0	20.0	NM_000418	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	hg19	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.908099	0.97928	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	5.09	4.13	0.48395	.	2.792480	0.00951	N	0.002962	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9719	11.6839	0.51474	0.0:0.8212:0.1788:0.0	.	.	.	.	X	607;607;592;607	.	ENSP00000170630:S607X	S	+	2	0	IL4R	27281994	0.341000	0.24801	0.841000	0.33234	0.192000	0.23643	0.933000	0.28897	1.139000	0.42245	0.555000	0.69702	TCA	.	.		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
IL21R	50615	hgsc.bcm.edu	37	16	27448852	27448852	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:27448852A>T	ENST00000337929.3	+	4	669	c.196A>T	c.(196-198)Agc>Tgc	p.S66C	IL21R_ENST00000395755.1_Missense_Mutation_p.S66C|IL21R_ENST00000564089.1_Missense_Mutation_p.S66C|IL21R_ENST00000395754.4_Missense_Mutation_p.S66C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	66	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCTCCTGCAGCCTCCACAG	0.577			T	BCL6	NHL																																p.S88C		Atlas-SNP	.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R	95	.	0			c.A262T						.						118.0	92.0	101.0					16																	27448852		2197	4300	6497	SO:0001583	missense	50615	exon5			TCCTGCAGCCTCC	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.196A>T	chr16.hg19:g.27448852A>T	ENSP00000338010:p.Ser66Cys	72.0	0.0		65.0	31.0	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	hg19	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020343	0.35606	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.96619	-4.07;-4.07;-4.07	4.65	2.15	0.27550	Fibronectin, type III (1);	0.260360	0.39274	N	0.001420	D	0.96744	0.8937	M	0.69823	2.125	0.39204	D	0.963209	D	0.76494	0.999	D	0.72338	0.977	D	0.95199	0.8315	10	0.59425	D	0.04	-24.1159	4.8747	0.13650	0.6165:0.1954:0.0:0.188	.	66	Q9HBE5	IL21R_HUMAN	C	66	ENSP00000338010:S66C;ENSP00000379104:S66C;ENSP00000379103:S66C	ENSP00000338010:S66C	S	+	1	0	IL21R	27356353	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	1.284000	0.33249	0.704000	0.31869	-0.341000	0.08007	AGC	.	.		0.577	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
GTF3C1	2975	hgsc.bcm.edu	37	16	27509073	27509073	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:27509073T>C	ENST00000356183.4	-	14	2250	c.2235A>G	c.(2233-2235)ccA>ccG	p.P745P	GTF3C1_ENST00000561623.1_Silent_p.P745P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	745					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGATCCACTTGGGCCCTCTT	0.458																																					p.P745P		Atlas-SNP	.											.	GTF3C1	210	.	0			c.A2235G						.						136.0	125.0	129.0					16																	27509073		2197	4300	6497	SO:0001819	synonymous_variant	2975	exon14			TCCACTTGGGCCC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2235A>G	chr16.hg19:g.27509073T>C		125.0	0.0		116.0	53.0	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	hg19	CCDS32414.1																																																																																			.	.		0.458	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
KIAA0556	23247	hgsc.bcm.edu	37	16	27760972	27760972	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:27760972C>G	ENST00000261588.4	+	16	2710	c.2691C>G	c.(2689-2691)caC>caG	p.H897Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	897						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACACACTTCACGAGTCATGGA	0.617																																					p.H897Q		Atlas-SNP	.											KIAA0556_ENST00000261588,colon,carcinoma,0,2	KIAA0556	348	.	0			c.C2691G						.						91.0	86.0	88.0					16																	27760972		2197	4300	6497	SO:0001583	missense	23247	exon16			ACTTCACGAGTCA	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2691C>G	chr16.hg19:g.27760972C>G	ENSP00000261588:p.His897Gln	143.0	1.0		108.0	54.0	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	hg19	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995013	0.35226	.	.	ENSG00000047578	ENST00000261588	T	0.08458	3.09	4.7	-9.19	0.00685	.	0.302883	0.33572	N	0.004766	T	0.04407	0.0121	L	0.42245	1.32	0.32250	N	0.571539	B	0.15930	0.015	B	0.14023	0.01	T	0.49835	-0.8897	10	0.06625	T	0.88	-10.1703	10.6601	0.45698	0.0:0.1709:0.1767:0.6524	.	897	O60303	K0556_HUMAN	Q	897	ENSP00000261588:H897Q	ENSP00000261588:H897Q	H	+	3	2	KIAA0556	27668473	0.001000	0.12720	0.050000	0.19076	0.958000	0.62258	-2.635000	0.00868	-1.401000	0.02058	0.655000	0.94253	CAC	.	.		0.617	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
C16orf54	283897	hgsc.bcm.edu	37	16	29755668	29755668	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:29755668T>A	ENST00000329410.3	-	2	700	c.605A>T	c.(604-606)cAg>cTg	p.Q202L	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	202						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GACCCGTGGCTGGAGGCCCCA	0.667																																					p.Q202L		Atlas-SNP	.											.	C16orf54	18	.	0			c.A605T						.						13.0	15.0	14.0					16																	29755668		2082	4148	6230	SO:0001583	missense	283897	exon2			CGTGGCTGGAGGC	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.605A>T	chr16.hg19:g.29755668T>A	ENSP00000327506:p.Gln202Leu	93.0	0.0		99.0	52.0	NM_175900	A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	hg19	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466213	0.63625	.	.	ENSG00000185905	ENST00000329410	T	0.65732	-0.17	5.22	5.22	0.72569	.	0.000000	0.39544	U	0.001323	T	0.68016	0.2955	L	0.29908	0.895	0.40662	D	0.98213	D	0.76494	0.999	D	0.83275	0.996	T	0.72384	-0.4310	10	0.87932	D	0	-13.6752	11.4916	0.50383	0.0:0.0:0.0:1.0	.	202	Q6UWD8	CP054_HUMAN	L	202	ENSP00000327506:Q202L	ENSP00000327506:Q202L	Q	-	2	0	C16orf54	29663169	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	2.252000	0.43196	1.971000	0.57363	0.260000	0.18958	CAG	.	.		0.667	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900	
SEZ6L2	26470	hgsc.bcm.edu	37	16	29906726	29906726	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:29906726C>A	ENST00000308713.5	-	5	1234	c.707G>T	c.(706-708)gGa>gTa	p.G236V	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G192V|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G166V|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	236	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G236A(1)|p.G166A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGGGGATCCCCCACCAGC	0.627																																					p.G236V		Atlas-SNP	.											SEZ6L2_ENST00000350527,NS,carcinoma,0,2	SEZ6L2	137	.	2	Substitution - Missense(2)	lung(2)	c.G707T						.						41.0	50.0	47.0					16																	29906726		2197	4300	6497	SO:0001583	missense	26470	exon5			GGGGATCCCCCAC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.707G>T	chr16.hg19:g.29906726C>A	ENSP00000312550:p.Gly236Val	80.0	0.0		74.0	34.0	NM_001243332	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	hg19	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	16.73	3.205329	0.58234	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	CUB (5);	0.000000	0.48767	D	0.000179	T	0.59376	0.2189	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.992;1.0;1.0;0.99	D;D;D;D;P	0.77557	0.953;0.94;0.99;0.99;0.901	T	0.60037	-0.7341	10	0.52906	T	0.07	.	11.7866	0.52045	0.0:0.9146:0.0:0.0854	.	192;236;166;236;166	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	V	166;236;192	ENSP00000310206:G166V;ENSP00000312550:G236V;ENSP00000439412:G192V	ENSP00000312550:G236V	G	-	2	0	SEZ6L2	29814227	0.925000	0.31364	0.954000	0.39281	0.377000	0.30045	3.354000	0.52254	2.434000	0.82447	0.586000	0.80456	GGA	.	.		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
FBRS	64319	hgsc.bcm.edu	37	16	30680873	30680873	+	Silent	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:30680873G>C	ENST00000287468.5	+	12	1553	c.1290G>C	c.(1288-1290)ccG>ccC	p.P430P	FBRS_ENST00000356166.6_Silent_p.P950P|FBRS_ENST00000568722.1_Silent_p.P342P|FBRS_ENST00000395073.2_Intron	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	430								p.P430P(1)|p.?(1)		ovary(1)	1			Colorectal(24;0.103)			AGACCCCACCGGGAGCCCTTT	0.697																																					p.P430P		Atlas-SNP	.											.	FBRS	39	.	2	Unknown(1)|Substitution - coding silent(1)	lung(2)	c.G1290C						.						65.0	79.0	75.0					16																	30680873		1970	4149	6119	SO:0001819	synonymous_variant	64319	exon12			CCCACCGGGAGCC	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1290G>C	chr16.hg19:g.30680873G>C		64.0	0.0		72.0	32.0	NM_001105079	B4DP86|Q96CI9|Q9H9X4	Silent	SNP	ENST00000287468.5	hg19																																																																																				.	.		0.697	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452	
PHKG2	5261	hgsc.bcm.edu	37	16	30764551	30764551	+	Splice_Site	SNP	A	A	T	rs34885557		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:30764551A>T	ENST00000563588.1	+	5	565		c.e5-1		RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Splice_Site|PHKG2_ENST00000424889.3_Splice_Site	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCCTTCCCTTAGGATGCGGAA	0.532																																					.		Atlas-SNP	.											.	PHKG2	29	.	0			c.327-2A>T						.						41.0	40.0	40.0					16																	30764551		2197	4300	6497	SO:0001630	splice_region_variant	5261	exon5			TCCCTTAGGATGC	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.327-1A>T	chr16.hg19:g.30764551A>T		57.0	0.0		42.0	20.0	NM_001172432	A8K0C7|B4DEB7|E9PEU3|P11800	Splice_Site	SNP	ENST00000563588.1	hg19	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836871	0.71373	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5455	0.68027	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHKG2	30672052	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.339000	0.96797	2.065000	0.61736	0.533000	0.62120	.	.	.		0.532	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	Intron
ORAI3	93129	hgsc.bcm.edu	37	16	30965031	30965031	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:30965031A>G	ENST00000318663.4	+	2	978	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	ORAI3_ENST00000566237.1_Missense_Mutation_p.M252V|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	252					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CACAGCCATCATGGTACCCGT	0.627											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M252V		Atlas-SNP	.											.	ORAI3	19	.	0			c.A754G						.						55.0	62.0	59.0					16																	30965031		2197	4300	6497	SO:0001583	missense	93129	exon2			GCCATCATGGTAC	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.754A>G	chr16.hg19:g.30965031A>G	ENSP00000322249:p.Met252Val	57.0	0.0	821	47.0	25.0	NM_152288	Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	hg19	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.422990	0.83559	.	.	ENSG00000175938	ENST00000318663	T	0.42513	0.97	5.64	5.64	0.86602	.	0.085873	0.51477	D	0.000097	T	0.51160	0.1658	N	0.26042	0.785	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.50491	-0.8822	10	0.42905	T	0.14	-20.3393	14.8628	0.70394	1.0:0.0:0.0:0.0	.	252	Q9BRQ5	ORAI3_HUMAN	V	252	ENSP00000322249:M252V	ENSP00000322249:M252V	M	+	1	0	ORAI3	30872532	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.158000	0.67659	0.524000	0.50904	ATG	.	.		0.627	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288	
PYDC1	260434	hgsc.bcm.edu	37	16	31228226	31228226	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:31228226C>A	ENST00000302964.3	-	1	454	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	42	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCGAGCGCGCCCCGCGGGATG	0.647																																					p.G42C		Atlas-SNP	.											.	PYDC1	7	.	0			c.G124T						.						63.0	58.0	60.0					16																	31228226		2197	4299	6496	SO:0001583	missense	260434	exon1			GCGCGCCCCGCGG		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.124G>T	chr16.hg19:g.31228226C>A	ENSP00000304336:p.Gly42Cys	97.0	0.0		86.0	44.0	NM_152901	B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	hg19	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077048	0.55753	.	.	ENSG00000169900	ENST00000302964	T	0.50277	0.75	3.84	2.88	0.33553	Pyrin (2);DEATH-like (2);	0.000000	0.40728	U	0.001021	T	0.61949	0.2388	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50591	-0.8810	9	0.56958	D	0.05	.	7.0736	0.25191	0.0:0.873:0.0:0.127	.	42	Q8WXC3	PYDC1_HUMAN	C	42	ENSP00000304336:G42C	ENSP00000304336:G42C	G	-	1	0	PYDC1	31135727	0.171000	0.23029	0.001000	0.08648	0.033000	0.12548	3.870000	0.56070	0.809000	0.34255	0.561000	0.74099	GGC	.	.		0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901	
ITGAD	3681	hgsc.bcm.edu	37	16	31419776	31419776	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:31419776A>T	ENST00000389202.2	+	10	1089	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	347					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCTCCTTCCAGCACGAGATG	0.557																																					p.Q347L		Atlas-SNP	.											.	ITGAD	154	.	0			c.A1040T						.						81.0	72.0	75.0					16																	31419776		2197	4300	6497	SO:0001583	missense	3681	exon10			CCTTCCAGCACGA	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1040A>T	chr16.hg19:g.31419776A>T	ENSP00000373854:p.Gln347Leu	60.0	0.0		58.0	32.0	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697393	0.68386	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.41758	0.99	5.47	3.2	0.36748	.	.	.	.	.	T	0.55210	0.1906	M	0.72624	2.21	0.29096	N	0.881795	D;D	0.67145	0.996;0.996	P;P	0.58660	0.843;0.843	T	0.52223	-0.8604	9	0.72032	D	0.01	.	8.5239	0.33293	0.8346:0.0:0.1654:0.0	.	363;347	Q59H14;Q13349	.;ITAD_HUMAN	L	363;347	ENSP00000373854:Q347L	ENSP00000373854:Q347L	Q	+	2	0	ITGAD	31327277	1.000000	0.71417	0.418000	0.26571	0.876000	0.50452	2.753000	0.47524	0.909000	0.36697	0.524000	0.50904	CAG	.	.		0.557	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
ARMC5	79798	hgsc.bcm.edu	37	16	31477974	31477974	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:31477974A>T	ENST00000563544.1	+	7	3118	c.2572A>T	c.(2572-2574)Atc>Ttc	p.I858F	ARMC5_ENST00000538189.1_Missense_Mutation_p.I890F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.I502F|ARMC5_ENST00000268314.4_Missense_Mutation_p.I858F|ARMC5_ENST00000408912.3_Missense_Mutation_p.I953F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	858										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTGGGCCGCATCCACCTGGG	0.716																																					p.I858F		Atlas-SNP	.											.	ARMC5	94	.	0			c.A2572T						.						16.0	26.0	22.0					16																	31477974		2164	4267	6431	SO:0001583	missense	79798	exon6			GGCCGCATCCACC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2572A>T	chr16.hg19:g.31477974A>T	ENSP00000456877:p.Ile858Phe	50.0	0.0		47.0	20.0	NM_001105247	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	hg19	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	A	15.36	2.809743	0.50421	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.46063	2.16;2.18;2.2;0.88	5.07	2.79	0.32731	.	0.427059	0.23481	N	0.047719	T	0.21801	0.0525	N	0.08118	0	0.36530	D	0.8707	P;P;P;P	0.43701	0.815;0.815;0.815;0.703	B;B;B;B	0.42422	0.299;0.299;0.387;0.299	T	0.12553	-1.0543	10	0.46703	T	0.11	-25.2642	5.3445	0.16002	0.7708:0.0:0.2292:0.0	.	890;890;953;858	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	F	953;890;858;502	ENSP00000386125:I953F;ENSP00000443995:I890F;ENSP00000268314:I858F;ENSP00000400183:I502F	ENSP00000268314:I858F	I	+	1	0	ARMC5	31385475	0.000000	0.05858	0.995000	0.50966	0.929000	0.56500	0.185000	0.16958	0.967000	0.38186	0.368000	0.22195	ATC	.	.		0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
PHKB	5257	hgsc.bcm.edu	37	16	47622970	47622970	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:47622970T>C	ENST00000323584.5	+	10	1049	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	PHKB_ENST00000566044.1_Missense_Mutation_p.L335S|PHKB_ENST00000299167.8_Missense_Mutation_p.L342S|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.L335S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	342					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGAACATCATTGGAAGATCCC	0.338																																					p.L342S		Atlas-SNP	.											.	PHKB	298	.	0			c.T1025C						.						68.0	73.0	71.0					16																	47622970		2201	4300	6501	SO:0001583	missense	5257	exon10			CATCATTGGAAGA		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1025T>C	chr16.hg19:g.47622970T>C	ENSP00000313504:p.Leu342Ser	72.0	0.0		26.0	23.0	NM_000293	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	hg19	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877135	0.72180	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.94092	-3.35;-3.35	5.83	5.83	0.93111	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.153364	0.46145	D	0.000317	D	0.96448	0.8841	M	0.86268	2.805	0.48696	D	0.999691	D;P	0.53151	0.958;0.702	P;B	0.59825	0.864;0.444	D	0.96629	0.9465	10	0.56958	D	0.05	-4.9254	16.2071	0.82135	0.0:0.0:0.0:1.0	.	342;335	Q93100;Q93100-4	KPBB_HUMAN;.	S	335;335;342	ENSP00000414345:L335S;ENSP00000313504:L342S	ENSP00000299167:L335S	L	+	2	0	PHKB	46180471	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	5.040000	0.64191	2.240000	0.73641	0.477000	0.44152	TTG	.	.		0.338	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
PHKB	5257	hgsc.bcm.edu	37	16	47727355	47727355	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:47727355A>T	ENST00000323584.5	+	28	2856	c.2832A>T	c.(2830-2832)cgA>cgT	p.R944R	PHKB_ENST00000566044.1_Silent_p.R937R|PHKB_ENST00000299167.8_Silent_p.R944R|PHKB_ENST00000455779.1_Silent_p.R937R	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	944	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCTATGACCGAGTGTGGCAGA	0.488																																					p.R944R		Atlas-SNP	.											.	PHKB	298	.	0			c.A2832T						.						73.0	67.0	69.0					16																	47727355		2201	4300	6501	SO:0001819	synonymous_variant	5257	exon28			TGACCGAGTGTGG		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2832A>T	chr16.hg19:g.47727355A>T		148.0	0.0		70.0	59.0	NM_000293	Q8N4T5	Silent	SNP	ENST00000323584.5	hg19	CCDS10729.1																																																																																			.	.		0.488	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
ZNF423	23090	hgsc.bcm.edu	37	16	49764842	49764842	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:49764842G>A	ENST00000561648.1	-	3	170	c.117C>T	c.(115-117)agC>agT	p.S39S	ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.S39S|ZNF423_ENST00000562871.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	39					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCAGCGCACGGCTGGTTTTCT	0.493																																					p.S39S		Atlas-SNP	.											.	ZNF423	463	.	0			c.C117T						.						321.0	273.0	289.0					16																	49764842		2198	4300	6498	SO:0001819	synonymous_variant	23090	exon3			CGCACGGCTGGTT	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.117C>T	chr16.hg19:g.49764842G>A		101.0	0.0		45.0	38.0	NM_015069	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	hg19	CCDS32445.1																																																																																			.	.		0.493	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
RBL2	5934	hgsc.bcm.edu	37	16	53498136	53498136	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:53498136A>G	ENST00000262133.6	+	12	1697		c.e12-1		RBL2_ENST00000379935.4_Splice_Site|RBL2_ENST00000544545.1_Splice_Site	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2						chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTATTTTATAGGGTATTCTG	0.353																																					.		Atlas-SNP	.											.	RBL2	115	.	0			c.1561-2A>G						.						66.0	69.0	68.0					16																	53498136		2198	4300	6498	SO:0001630	splice_region_variant	5934	exon12			TTTTATAGGGTAT	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1561-1A>G	chr16.hg19:g.53498136A>G		50.0	0.0		30.0	25.0	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Splice_Site	SNP	ENST00000262133.6	hg19	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117580	0.77323	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9995	0.80280	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBL2	52055637	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.129000	0.94430	2.186000	0.69663	0.528000	0.53228	.	.	.		0.353	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	Intron
SLC12A3	6559	hgsc.bcm.edu	37	16	56936357	56936357	+	Missense_Mutation	SNP	C	C	A	rs13306666	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:56936357C>A	ENST00000563236.1	+	24	2818	c.2793C>A	c.(2791-2793)aaC>aaA	p.N931K	SLC12A3_ENST00000566786.1_Missense_Mutation_p.N939K|SLC12A3_ENST00000438926.2_Missense_Mutation_p.N940K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.N930K			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	931					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCACTGTCAACGAGATGCGGC	0.562																																					p.N940K		Atlas-SNP	.											SLC12A3,caecum,carcinoma,0,1	SLC12A3	99	.	0			c.C2820A						.						111.0	92.0	99.0					16																	56936357		2198	4300	6498	SO:0001583	missense	6559	exon24			TGTCAACGAGATG		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2793C>A	chr16.hg19:g.56936357C>A	ENSP00000456149:p.Asn931Lys	89.0	0.0		27.0	24.0	NM_000339	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	hg19	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	7.845	0.722675	0.15439	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.07	-10.1	0.00402	.	1.104770	0.06615	N	0.756285	T	0.24353	0.0590	N	0.25647	0.755	0.20638	N	0.999871	B;B;B	0.15141	0.004;0.007;0.012	B;B;B	0.26310	0.017;0.031;0.068	T	0.34900	-0.9810	9	0.46703	T	0.11	.	6.1675	0.20398	0.333:0.2396:0.0:0.4274	.	939;931;940	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	K	939;940	.	ENSP00000262502:N940K	N	+	3	2	SLC12A3	55493858	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-2.268000	0.01169	-2.460000	0.00537	-0.284000	0.09977	AAC	.	C|0.998;T|0.002		0.562	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
CNGB1	1258	hgsc.bcm.edu	37	16	57935438	57935438	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:57935438G>A	ENST00000251102.8	-	28	2946	c.2886C>T	c.(2884-2886)ctC>ctT	p.L962L	CNGB1_ENST00000564448.1_Silent_p.L956L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	962					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTACCTGAAAGAGTGCGACTT	0.537																																					p.L962L	Colon(156;1293 1853 16336 28962 38659)	Atlas-SNP	.											.	CNGB1	105	.	0			c.C2886T						.						108.0	112.0	110.0					16																	57935438		2056	4201	6257	SO:0001819	synonymous_variant	1258	exon28			CTGAAAGAGTGCG	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2886C>T	chr16.hg19:g.57935438G>A		59.0	0.0		37.0	32.0	NM_001297	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	hg19	CCDS42169.1																																																																																			.	.		0.537	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CCDC113	29070	hgsc.bcm.edu	37	16	58293762	58293762	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:58293762A>T	ENST00000219299.4	+	5	630	c.551A>T	c.(550-552)aAt>aTt	p.N184I	CCDC113_ENST00000443128.2_Missense_Mutation_p.N130I	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TTTTAGGATAATATGAAGGAG	0.348																																					p.N184I		Atlas-SNP	.											.	CCDC113	30	.	0			c.A551T						.						76.0	79.0	78.0					16																	58293762		2197	4300	6497	SO:0001583	missense	29070	exon5			AGGATAATATGAA	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.551A>T	chr16.hg19:g.58293762A>T	ENSP00000219299:p.Asn184Ile	190.0	0.0		89.0	81.0	NM_014157	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	hg19	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	A	7.973	0.749445	0.15778	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.31510	1.49;1.5	5.1	-3.26	0.05064	.	1.406200	0.03978	N	0.292758	T	0.20251	0.0487	L	0.33485	1.01	0.09310	N	1	B;B	0.20550	0.036;0.046	B;B	0.21546	0.025;0.035	T	0.22871	-1.0204	10	0.38643	T	0.18	-2.7455	2.4403	0.04492	0.2272:0.2797:0.3685:0.1246	.	130;184	B4DR20;Q9H0I3	.;CC113_HUMAN	I	130;184	ENSP00000402588:N130I;ENSP00000219299:N184I	ENSP00000219299:N184I	N	+	2	0	CCDC113	56851263	0.000000	0.05858	0.917000	0.36280	0.362000	0.29581	-0.010000	0.12743	-0.288000	0.09051	-0.338000	0.08134	AAT	.	.		0.348	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
PRSS54	221191	hgsc.bcm.edu	37	16	58320072	58320072	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:58320072T>G	ENST00000219301.4	-	5	685	c.291A>C	c.(289-291)atA>atC	p.I97I	PRSS54_ENST00000543437.1_5'UTR|PRSS54_ENST00000567164.1_Silent_p.I97I|PRSS54_ENST00000563336.1_5'Flank	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	97	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCATGTTACTTATACCCACTA	0.438																																					p.I97I		Atlas-SNP	.											.	PRSS54	48	.	0			c.A291C						.						215.0	173.0	187.0					16																	58320072		2198	4300	6498	SO:0001819	synonymous_variant	221191	exon5			GTTACTTATACCC	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.291A>C	chr16.hg19:g.58320072T>G		115.0	0.0		49.0	38.0	NM_001080492	Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	hg19	CCDS32463.1																																																																																			.	.		0.438	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492	
CDH5	1003	hgsc.bcm.edu	37	16	66431975	66431975	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:66431975A>T	ENST00000341529.3	+	9	1599	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAGCCCTACCAGCCCAAAGTG	0.577																																					p.Q484L		Atlas-SNP	.											.	CDH5	111	.	0			c.A1451T						.						174.0	160.0	165.0					16																	66431975		2201	4300	6501	SO:0001583	missense	1003	exon9			CCTACCAGCCCAA	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1451A>T	chr16.hg19:g.66431975A>T	ENSP00000344115:p.Gln484Leu	128.0	0.0		51.0	43.0	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	hg19	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832444	0.50845	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.14391	2.51	4.5	4.5	0.54988	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.10766	0.0263	L	0.29908	0.895	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.06144	-1.0843	9	0.87932	D	0	.	9.185	0.37165	0.8168:0.1832:0.0:0.0	.	484	P33151	CADH5_HUMAN	L	484;225	ENSP00000344115:Q484L	ENSP00000344115:Q484L	Q	+	2	0	CDH5	64989476	0.999000	0.42202	0.900000	0.35374	0.879000	0.50718	6.134000	0.71689	1.899000	0.54978	0.459000	0.35465	CAG	.	.		0.577	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
CMTM4	146223	hgsc.bcm.edu	37	16	66670433	66670433	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:66670433G>A	ENST00000330687.4	-	2	419	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	CMTM4_ENST00000563952.1_Missense_Mutation_p.P51S|CMTM4_ENST00000394106.2_Missense_Mutation_p.P80S	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	80	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CCTTCACACGGGGAGCATGCC	0.433																																					p.P80S		Atlas-SNP	.											.	CMTM4	19	.	0			c.C238T						.						113.0	99.0	104.0					16																	66670433		2201	4300	6501	SO:0001583	missense	146223	exon2			CACACGGGGAGCA	AF479814	CCDS10817.1, CCDS42170.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000183723	ENSG00000183723			19175	protein-coding gene	gene with protein product		607887	"""chemokine-like factor super family 4"", ""chemokine-like factor superfamily 4"""	CKLFSF4		12782130	Standard	NM_178818		Approved		uc002epz.3	Q8IZR5	OTTHUMG00000137500	ENST00000330687.4:c.238C>T	chr16.hg19:g.66670433G>A	ENSP00000333833:p.Pro80Ser	62.0	0.0		34.0	29.0	NM_178818	Q52M40|Q8IZR4|Q8IZV1	Missense_Mutation	SNP	ENST00000330687.4	hg19	CCDS10817.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432003	0.62844	.	.	ENSG00000183723	ENST00000330687;ENST00000394106	T;T	0.26373	1.74;1.74	5.73	5.73	0.89815	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06373	-1.0830	10	0.21014	T	0.42	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	80	Q8IZR5	CKLF4_HUMAN	S	80	ENSP00000333833:P80S;ENSP00000377666:P80S	ENSP00000333833:P80S	P	-	1	0	CMTM4	65227934	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.382000	0.97209	2.721000	0.93114	0.655000	0.94253	CCG	.	.		0.433	CMTM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268807.1		
KCTD19	146212	hgsc.bcm.edu	37	16	67325322	67325322	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:67325322A>G	ENST00000304372.5	-	14	2510	c.2455T>C	c.(2455-2457)Tat>Cat	p.Y819H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	819					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTCTGTGCATAAAACATCTCT	0.502																																					p.Y819H		Atlas-SNP	.											.	KCTD19	82	.	0			c.T2455C						.						72.0	70.0	70.0					16																	67325322		1967	4165	6132	SO:0001583	missense	146212	exon14			GTGCATAAAACAT	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2455T>C	chr16.hg19:g.67325322A>G	ENSP00000305702:p.Tyr819His	136.0	0.0		50.0	46.0	NM_001100915	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	hg19	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051870	0.75960	.	.	ENSG00000168676	ENST00000304372	T	0.73152	-0.72	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000121	T	0.75250	0.3824	L	0.27053	0.805	0.35604	D	0.808141	D	0.76494	0.999	D	0.83275	0.996	T	0.82508	-0.0422	10	0.87932	D	0	-10.8343	13.221	0.59887	1.0:0.0:0.0:0.0	.	819	Q17RG1	KCD19_HUMAN	H	819	ENSP00000305702:Y819H	ENSP00000305702:Y819H	Y	-	1	0	KCTD19	65882823	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.991000	0.70602	2.157000	0.67596	0.374000	0.22700	TAT	.	.		0.502	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
LRRC36	55282	hgsc.bcm.edu	37	16	67375858	67375858	+	Splice_Site	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:67375858A>C	ENST00000329956.6	+	2	89		c.e2-1		LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36											endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ATCTCTTTTCAGAACTGGTGG	0.413																																					.		Atlas-SNP	.											.	LRRC36	68	.	0			c.71-2A>C						.						104.0	101.0	102.0					16																	67375858		2198	4300	6498	SO:0001630	splice_region_variant	55282	exon2			CTTTTCAGAACTG	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.71-1A>C	chr16.hg19:g.67375858A>C		68.0	0.0		34.0	30.0	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Splice_Site	SNP	ENST00000329956.6	hg19	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962108	0.74016	.	.	ENSG00000159708	ENST00000329956	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1001	0.53778	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC36	65933359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.504000	0.60414	2.113000	0.64589	0.460000	0.39030	.	.	.		0.413	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	Intron
EDC4	23644	hgsc.bcm.edu	37	16	67909967	67909967	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:67909967A>G	ENST00000358933.5	+	2	441	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	68					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGGTCTTCGGACCATGCCACC	0.532																																					p.T68A		Atlas-SNP	.											.	EDC4	101	.	0			c.A202G						.						119.0	102.0	108.0					16																	67909967		2198	4300	6498	SO:0001583	missense	23644	exon2			CTTCGGACCATGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.202A>G	chr16.hg19:g.67909967A>G	ENSP00000351811:p.Thr68Ala	96.0	0.0		30.0	25.0	NM_014329	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	hg19	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.668018	0.29604	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	-0.238	0.13055	.	0.818985	0.11618	N	0.546070	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23013	-1.0200	9	0.20519	T	0.43	-4.0825	0.6508	0.00826	0.4217:0.141:0.1574:0.2799	.	68	Q6P2E9	EDC4_HUMAN	A	68	.	ENSP00000351811:T68A	T	+	1	0	EDC4	66467468	0.000000	0.05858	0.983000	0.44433	0.948000	0.59901	0.247000	0.18179	-0.019000	0.14055	0.533000	0.62120	ACC	.	.		0.532	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329	
HYDIN	54768	hgsc.bcm.edu	37	16	70995883	70995883	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:70995883G>T	ENST00000393567.2	-	38	6097	c.5947C>A	c.(5947-5949)Ctg>Atg	p.L1983M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1983					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTTTCCAGGCTTTCCTCA	0.448																																					p.L1983M		Atlas-SNP	.											.	HYDIN	788	.	0			c.C5947A						.						19.0	47.0	38.0					16																	70995883		1752	4040	5792	SO:0001583	missense	54768	exon38			TTTCCAGGCTTTC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5947C>A	chr16.hg19:g.70995883G>T	ENSP00000377197:p.Leu1983Met	110.0	0.0		62.0	34.0	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451706	0.26074	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.40756	1.02	4.32	-0.201	0.13212	.	0.000000	0.27891	U	0.017431	T	0.38506	0.1043	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	P	0.58928	0.848	T	0.18618	-1.0331	10	0.31617	T	0.26	.	4.8069	0.13325	0.2971:0.1627:0.5402:0.0	.	1982	F8WD23	.	M	1983;1982	ENSP00000377197:L1983M	ENSP00000310485:L274M	L	-	1	2	HYDIN	69553384	0.996000	0.38824	0.996000	0.52242	0.139000	0.21198	0.061000	0.14366	0.054000	0.16065	-0.430000	0.05897	CTG	.	.		0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
IST1	9798	hgsc.bcm.edu	37	16	71957226	71957226	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:71957226G>A	ENST00000378799.6	+	8	1151	c.795G>A	c.(793-795)caG>caA	p.Q265Q	IST1_ENST00000606369.1_Silent_p.Q117Q|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Intron|IST1_ENST00000535424.1_Silent_p.Q278Q|IST1_ENST00000538850.1_Silent_p.Q117Q|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Silent_p.Q265Q|IST1_ENST00000329908.8_Silent_p.Q265Q|IST1_ENST00000541571.2_Silent_p.Q265Q			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	263	Interaction with VPS37B.|Interaction with VTA1.				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)										GGACTTATCAGGCCTTTCCCA	0.463																																					p.Q278Q		Atlas-SNP	.											.	.	.	.	0			c.G834A						.						113.0	103.0	106.0					16																	71957226		2198	4300	6498	SO:0001819	synonymous_variant	9798	exon9			TTATCAGGCCTTT	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.795G>A	chr16.hg19:g.71957226G>A		97.0	0.0		63.0	53.0	NM_001270976	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	hg19	CCDS59272.1																																																																																			.	.		0.463	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	
CNTNAP4	85445	hgsc.bcm.edu	37	16	76523604	76523604	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:76523604A>T	ENST00000476707.1	+	12	2052	c.1913A>T	c.(1912-1914)cAg>cTg	p.Q638L	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q634L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q562L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q586L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	635	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCATCATACAGCACAACGGC	0.423																																					p.Q562L		Atlas-SNP	.											.	CNTNAP4	600	.	0			c.A1685T						.						41.0	36.0	38.0					16																	76523604		2198	4300	6498	SO:0001583	missense	85445	exon12			TCATACAGCACAA	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1913A>T	chr16.hg19:g.76523604A>T	ENSP00000417628:p.Gln638Leu	119.0	0.0		49.0	40.0	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.44	2.238303	0.39598	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.55	4.55	0.56014	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	.	.	.	.	T	0.25791	0.0628	.	.	.	0.35631	D	0.810189	B;B;B;B	0.16396	0.007;0.017;0.001;0.008	B;B;B;B	0.23275	0.021;0.04;0.015;0.045	T	0.25779	-1.0122	8	0.59425	D	0.04	.	8.717	0.34416	0.9136:0.0:0.0864:0.0	.	562;638;610;635	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	L	634;586;562;638	ENSP00000306893:Q634L;ENSP00000439733:Q586L;ENSP00000418741:Q562L;ENSP00000417628:Q638L	ENSP00000306893:Q634L	Q	+	2	0	CNTNAP4	75081105	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.100000	0.50275	2.045000	0.60652	0.455000	0.32223	CAG	.	.		0.423	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
PKD1L2	114780	hgsc.bcm.edu	37	16	81248727	81248727	+	RNA	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:81248727A>T	ENST00000525539.1	-	0	535				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCATCCTGGACCTGGATGAC	0.622											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V179D		Atlas-SNP	.											.	PKD1L2	361	.	0			c.T536A						.						18.0	24.0	22.0					16																	81248727		1956	4136	6092			114780	exon3			TCCTGGACCTGGA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		chr16.hg19:g.81248727A>T		107.0	0.0	1204	37.0	29.0	NM_001076780	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.34	3.364965	0.61513	.	.	ENSG00000166473	ENST00000337114	T	0.28454	1.61	4.77	4.77	0.60923	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.298098	0.29389	N	0.012292	T	0.52158	0.1717	.	.	.	0.45139	D	0.998158	D;D	0.59767	0.986;0.984	P;P	0.60609	0.656;0.877	T	0.58668	-0.7596	9	0.87932	D	0	-2.8932	14.3633	0.66787	1.0:0.0:0.0:0.0	.	179;179	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	D	179	ENSP00000337397:V179D	ENSP00000337397:V179D	V	-	2	0	PKD1L2	79806228	1.000000	0.71417	0.503000	0.27626	0.152000	0.21847	7.666000	0.83877	1.781000	0.52344	0.529000	0.55759	GTC	.	.		0.622	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
ADAD2	161931	hgsc.bcm.edu	37	16	84230327	84230327	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:84230327T>C	ENST00000315906.5	+	9	1653	c.1601T>C	c.(1600-1602)gTg>gCg	p.V534A	RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V616A|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	534	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCTGTGGGGAAGCCC	0.667																																					p.V616A		Atlas-SNP	.											ADAD2,NS,carcinoma,0,1	ADAD2	46	.	0			c.T1847C						.						59.0	61.0	60.0					16																	84230327		2200	4300	6500	SO:0001583	missense	161931	exon10			GGGCTGTGGGGAA	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1601T>C	chr16.hg19:g.84230327T>C	ENSP00000325153:p.Val534Ala	58.0	0.0		26.0	24.0	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	0.106	-1.144585	0.01728	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93604	-3.25;-3.25	5.27	4.18	0.49190	Adenosine deaminase/editase (2);	0.320112	0.25619	N	0.029435	T	0.81992	0.4940	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12837	0.007;0.008	T	0.66712	-0.5854	10	0.15066	T	0.55	-17.2826	7.0084	0.24849	0.0:0.1003:0.0:0.8997	.	534;616	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	A	534;616	ENSP00000325153:V534A;ENSP00000268624:V616A	ENSP00000268624:V616A	V	+	2	0	ADAD2	82787828	0.053000	0.20554	0.032000	0.17829	0.307000	0.27823	2.082000	0.41605	1.975000	0.57531	0.477000	0.44152	GTG	.	.		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174	
CDH15	1013	hgsc.bcm.edu	37	16	89246648	89246648	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:89246648G>C	ENST00000289746.2	+	3	307	c.242G>C	c.(241-243)aGc>aCc	p.S81T	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GTCATCTACAGCATCCAGGGA	0.622																																					p.S81T		Atlas-SNP	.											.	CDH15	54	.	0			c.G242C						.						46.0	43.0	44.0					16																	89246648		2197	4300	6497	SO:0001583	missense	1013	exon3			TCTACAGCATCCA	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.242G>C	chr16.hg19:g.89246648G>C	ENSP00000289746:p.Ser81Thr	84.0	0.0		37.0	27.0	NM_004933		Missense_Mutation	SNP	ENST00000289746.2	hg19	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408955	0.62399	.	.	ENSG00000129910	ENST00000289746	T	0.54866	0.55	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.45935	0.1367	L	0.53780	1.695	0.35365	D	0.788539	B	0.34255	0.445	B	0.33254	0.16	T	0.52975	-0.8503	10	0.07990	T	0.79	.	16.5579	0.84491	0.0:0.0:1.0:0.0	.	81	P55291	CAD15_HUMAN	T	81	ENSP00000289746:S81T	ENSP00000289746:S81T	S	+	2	0	CDH15	87774149	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.784000	0.62411	2.209000	0.71365	0.561000	0.74099	AGC	.	.		0.622	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
ANKRD11	29123	hgsc.bcm.edu	37	16	89350278	89350278	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr16:89350278T>C	ENST00000301030.4	-	9	3132	c.2672A>G	c.(2671-2673)gAc>gGc	p.D891G	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D891G	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	891	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCCCGGCTGTCCCGCCTCCT	0.557																																					p.D891G		Atlas-SNP	.											.	ANKRD11	195	.	0			c.A2672G						.						59.0	64.0	62.0					16																	89350278		2198	4300	6498	SO:0001583	missense	29123	exon9			CGGCTGTCCCGCC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2672A>G	chr16.hg19:g.89350278T>C	ENSP00000301030:p.Asp891Gly	79.0	0.0		41.0	38.0	NM_001256183	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	hg19	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	T	7.481	0.648710	0.14516	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.44881	0.91;0.91	5.44	5.44	0.79542	.	0.385891	0.25329	N	0.031445	T	0.37758	0.1015	L	0.47716	1.5	0.80722	D	1	P;P	0.38504	0.634;0.501	B;B	0.35971	0.215;0.107	T	0.19712	-1.0297	10	0.37606	T	0.19	.	15.1653	0.72818	0.0:0.0:0.0:1.0	.	510;891	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	G	891;891;510	ENSP00000301030:D891G;ENSP00000367581:D891G	ENSP00000301030:D891G	D	-	2	0	ANKRD11	87877779	1.000000	0.71417	0.255000	0.24374	0.009000	0.06853	5.840000	0.69402	2.058000	0.61347	0.482000	0.46254	GAC	.	.		0.557	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
SCARF1	8578	hgsc.bcm.edu	37	17	1538573	1538573	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:1538573T>G	ENST00000263071.4	-	11	2021	c.1972A>C	c.(1972-1974)Act>Cct	p.T658P	SCARF1_ENST00000348987.3_Missense_Mutation_p.T572P|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	658	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGTGGCCAGTGGCTGAATCC	0.687																																					p.T658P		Atlas-SNP	.											.	SCARF1	46	.	0			c.A1972C						.						15.0	18.0	17.0					17																	1538573		2058	4080	6138	SO:0001583	missense	8578	exon11			GGCCAGTGGCTGA	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1972A>C	chr17.hg19:g.1538573T>G	ENSP00000263071:p.Thr658Pro	71.0	0.0		46.0	39.0	NM_003693	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	hg19	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	T	7.944	0.743414	0.15642	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.35236	1.32;1.32	5.0	-3.74	0.04385	.	1.677830	0.03425	N	0.206831	T	0.32041	0.0816	L	0.51422	1.61	0.09310	N	1	P;P	0.41265	0.744;0.682	B;B	0.40825	0.341;0.163	T	0.32534	-0.9903	10	0.23891	T	0.37	8.1697	7.8658	0.29537	0.1276:0.5076:0.0:0.3648	.	572;658	Q14162-2;Q14162	.;SREC_HUMAN	P	658;572	ENSP00000263071:T658P;ENSP00000323964:T572P	ENSP00000263071:T658P	T	-	1	0	SCARF1	1485323	0.000000	0.05858	0.001000	0.08648	0.330000	0.28571	-0.588000	0.05774	-0.769000	0.04620	0.454000	0.30748	ACT	.	.		0.687	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
OR1D5	8386	hgsc.bcm.edu	37	17	2966603	2966603	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:2966603T>C	ENST00000575751.1	-	1	298	c.299A>G	c.(298-300)cAg>cGg	p.Q100R		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	100					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|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)			kidney(1)|lung(10)	11						GAAGTAGAGCTGTGTCAGACA	0.542																																					p.Q100R		Atlas-SNP	.											.	OR1D5	33	.	0			c.A299G						.						24.0	27.0	26.0					17																	2966603		2173	4250	6423	SO:0001583	missense	8386	exon1			TAGAGCTGTGTCA	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.299A>G	chr17.hg19:g.2966603T>C	ENSP00000459028:p.Gln100Arg	306.0	0.0		140.0	91.0	NM_014566	Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	hg19	CCDS58499.1																																																																																			.	.		0.542	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566	
OR1D2	4991	hgsc.bcm.edu	37	17	2996103	2996103	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:2996103A>T	ENST00000331459.1	-	1	187	c.188T>A	c.(187-189)cTg>cAg	p.L63Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	63					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GAGGTTGGCCAGGAAGAAGTA	0.537																																					p.L63Q		Atlas-SNP	.											.	OR1D2	39	.	0			c.T188A						.						153.0	150.0	151.0					17																	2996103		2203	4300	6503	SO:0001583	missense	4991	exon1			TTGGCCAGGAAGA	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.188T>A	chr17.hg19:g.2996103A>T	ENSP00000327585:p.Leu63Gln	174.0	0.0		110.0	91.0	NM_002548	Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	hg19	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	a	18.73	3.685733	0.68157	.	.	ENSG00000184166	ENST00000331459	T	0.14893	2.47	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58581	0.2132	H	0.99659	4.685	0.32194	N	0.578732	D	0.69078	0.997	D	0.67548	0.952	T	0.74705	-0.3575	9	0.87932	D	0	.	10.0639	0.42292	1.0:0.0:0.0:0.0	.	63	P34982	OR1D2_HUMAN	Q	63	ENSP00000327585:L63Q	ENSP00000327585:L63Q	L	-	2	0	OR1D2	2942853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.643000	0.91040	1.221000	0.43506	0.443000	0.29094	CTG	.	.		0.537	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548	
OR1A2	26189	hgsc.bcm.edu	37	17	3100889	3100889	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:3100889T>A	ENST00000381951.1	+	1	77	c.77T>A	c.(76-78)gTc>gAc	p.V26D		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	26					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAGAATAATGTCTTCTTTGTG	0.418																																					p.V26D		Atlas-SNP	.											.	OR1A2	52	.	0			c.T77A						.						178.0	161.0	167.0					17																	3100889		2203	4300	6503	SO:0001583	missense	26189	exon1			ATAATGTCTTCTT	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.77T>A	chr17.hg19:g.3100889T>A	ENSP00000371377:p.Val26Asp	96.0	0.0		49.0	36.0	NM_012352	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	hg19	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	T	6.778	0.512487	0.12944	.	.	ENSG00000172150	ENST00000381951	T	0.03689	3.84	3.68	3.68	0.42216	.	0.482987	0.17512	N	0.171591	T	0.09024	0.0223	M	0.83692	2.655	0.20764	N	0.999858	P	0.41041	0.736	B	0.41271	0.352	T	0.07328	-1.0778	10	0.87932	D	0	.	11.5786	0.50879	0.0:0.0:0.0:1.0	.	26	Q9Y585	OR1A2_HUMAN	D	26	ENSP00000371377:V26D	ENSP00000371377:V26D	V	+	2	0	OR1A2	3047639	0.001000	0.12720	0.700000	0.30305	0.019000	0.09904	1.042000	0.30303	1.672000	0.50884	0.491000	0.48974	GTC	.	.		0.418	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
SLC2A4	6517	hgsc.bcm.edu	37	17	7189182	7189182	+	Silent	SNP	C	C	T	rs375934415		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:7189182C>T	ENST00000317370.8	+	10	1549	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	SLC2A4_ENST00000571308.1_Silent_p.N427N|SLC2A4_ENST00000424875.2_Silent_p.N417N|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	427					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCTCCAACTGGACGAGCA	0.607																																					p.N427N		Atlas-SNP	.											.	SLC2A4	44	.	0			c.C1281T						.	C		0,4406		0,0,2203	79.0	68.0	72.0		1281	5.1	1.0	17		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC2A4	NM_001042.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		427/510	7189182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6517	exon10			CTCCAACTGGACG	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1281C>T	chr17.hg19:g.7189182C>T		111.0	0.0		50.0	44.0	NM_001042	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	hg19	CCDS11097.1																																																																																			.	.		0.607	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
TP53	7157	hgsc.bcm.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.Y205C	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,temporoparietal,glioma,0,24	TP53	33396	.	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	c.A614G						.						136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	exon6	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	TCCAAATACTCCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	chr17.hg19:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	133.0	0.0		73.0	60.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT	.	.		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MFSD6L	162387	hgsc.bcm.edu	37	17	8700730	8700730	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:8700730C>T	ENST00000329805.4	-	1	1937	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	570						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTGTTCTGTCCCCTGCTCAGA	0.547																																					p.G570E		Atlas-SNP	.											.	MFSD6L	46	.	0			c.G1709A						.						103.0	89.0	93.0					17																	8700730		2203	4300	6503	SO:0001583	missense	162387	exon1			TCTGTCCCCTGCT	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1709G>A	chr17.hg19:g.8700730C>T	ENSP00000330051:p.Gly570Glu	45.0	0.0		28.0	27.0	NM_152599	Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	hg19	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	2.889	-0.229988	0.06022	.	.	ENSG00000185156	ENST00000329805	D	0.95137	-3.62	5.03	3.07	0.35406	.	0.325810	0.27826	N	0.017693	D	0.84465	0.5478	L	0.27053	0.805	0.34810	D	0.737653	P	0.34864	0.473	B	0.24848	0.056	T	0.81885	-0.0727	10	0.02654	T	1	-13.8239	7.7331	0.28797	0.0:0.7419:0.0:0.2581	.	570	Q8IWD5	MFS6L_HUMAN	E	570	ENSP00000330051:G570E	ENSP00000330051:G570E	G	-	2	0	MFSD6L	8641455	0.997000	0.39634	0.646000	0.29493	0.891000	0.51852	3.094000	0.50227	0.722000	0.32252	0.557000	0.71058	GGG	.	.		0.547	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599	
DHRS7C	201140	hgsc.bcm.edu	37	17	9674809	9674809	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:9674809C>A	ENST00000330255.5	-	6	947	c.935G>T	c.(934-936)gGg>gTg	p.G312V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.G311V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	312					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CTGCAGTTACCCCTCCTCCGG	0.602																																					p.G312V		Atlas-SNP	.											.	DHRS7C	34	.	0			c.G935T						.						34.0	38.0	37.0					17																	9674809		1984	4147	6131	SO:0001583	missense	201140	exon6			AGTTACCCCTCCT		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.935G>T	chr17.hg19:g.9674809C>A	ENSP00000327975:p.Gly312Val	42.0	0.0		27.0	17.0	NM_001220493	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	hg19	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098582	0.07010	.	.	ENSG00000184544	ENST00000330255	D	0.86956	-2.19	5.5	3.48	0.39840	.	.	.	.	.	T	0.72606	0.3481	N	0.08118	0	0.35704	D	0.815886	B;B	0.18166	0.026;0.026	B;B	0.14023	0.01;0.01	T	0.70368	-0.4891	9	0.87932	D	0	.	6.6553	0.22984	0.0:0.6418:0.0:0.3582	.	312;308	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	312	ENSP00000327975:G312V	ENSP00000327975:G312V	G	-	2	0	DHRS7C	9615534	0.002000	0.14202	0.506000	0.27664	0.128000	0.20619	0.325000	0.19628	0.822000	0.34565	0.655000	0.94253	GGG	.	.		0.602	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912	
GLP2R	9340	hgsc.bcm.edu	37	17	9774103	9774103	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:9774103A>G	ENST00000262441.5	+	10	1609	c.1096A>G	c.(1096-1098)Att>Gtt	p.I366V	GLP2R_ENST00000574745.1_Missense_Mutation_p.I186V	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	366					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CAAGCTTCTCATTTCTAAGCT	0.388																																					p.I366V		Atlas-SNP	.											.	GLP2R	90	.	0			c.A1096G						.						176.0	188.0	184.0					17																	9774103		2203	4299	6502	SO:0001583	missense	9340	exon10			CTTCTCATTTCTA	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1096A>G	chr17.hg19:g.9774103A>G	ENSP00000262441:p.Ile366Val	134.0	0.0		48.0	34.0	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	hg19	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545543	0.27652	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.36878	1.23	6.17	3.98	0.46160	GPCR, family 2-like (1);	0.000000	0.40469	N	0.001091	T	0.15349	0.0370	N	0.14661	0.345	0.25154	N	0.990402	B	0.06786	0.001	B	0.13407	0.009	T	0.32771	-0.9894	10	0.02654	T	1	.	4.8724	0.13639	0.6841:0.1579:0.158:0.0	.	366	O95838	GLP2R_HUMAN	V	366	ENSP00000262441:I366V	ENSP00000262441:I366V	I	+	1	0	GLP2R	9714828	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.538000	0.36094	1.142000	0.42291	0.533000	0.62120	ATT	.	.		0.388	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
MYH1	4619	hgsc.bcm.edu	37	17	10416941	10416941	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:10416941A>T	ENST00000226207.5	-	9	900		c.e9+1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTACTCACATGTTTCAA	0.408																																					.		Atlas-SNP	.											.	MYH1	403	.	0			c.805+2T>A						.						107.0	105.0	106.0					17																	10416941		2203	4300	6503	SO:0001630	splice_region_variant	4619	exon10			TTACTCACATGTT		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.805+1T>A	chr17.hg19:g.10416941A>T		106.0	0.0		44.0	39.0	NM_005963	Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492895	0.84962	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5967	0.76587	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10357666	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.247000	0.72411	2.138000	0.66242	0.459000	0.35465	.	.	.		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron
MYH2	4620	hgsc.bcm.edu	37	17	10432930	10432930	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:10432930A>G	ENST00000245503.5	-	24	3452	c.3068T>C	c.(3067-3069)gTc>gCc	p.V1023A	MYH2_ENST00000397183.2_Missense_Mutation_p.V1023A|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1023					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGGTGTTGACTTTGTCCTC	0.468																																					p.V1023A		Atlas-SNP	.											.	MYH2	390	.	0			c.T3068C						.						202.0	192.0	196.0					17																	10432930		2203	4297	6500	SO:0001583	missense	4620	exon24			GTGTTGACTTTGT		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3068T>C	chr17.hg19:g.10432930A>G	ENSP00000245503:p.Val1023Ala	128.0	0.0		52.0	40.0	NM_017534	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	hg19	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104523	0.56291	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.91011	-2.77;-2.77	5.24	5.24	0.73138	.	0.000000	0.35466	U	0.003193	D	0.88537	0.6463	L	0.54323	1.7	0.58432	D	0.999993	P	0.37663	0.604	B	0.36845	0.234	D	0.89171	0.3537	10	0.56958	D	0.05	.	15.3006	0.73949	1.0:0.0:0.0:0.0	.	1023	Q9UKX2	MYH2_HUMAN	A	1023	ENSP00000245503:V1023A;ENSP00000380367:V1023A	ENSP00000245503:V1023A	V	-	2	0	MYH2	10373655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	2.194000	0.70268	0.482000	0.46254	GTC	.	.		0.468	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
DNAH9	1770	hgsc.bcm.edu	37	17	11809030	11809030	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:11809030G>A	ENST00000262442.4	+	61	11721	c.11653G>A	c.(11653-11655)Gat>Aat	p.D3885N	DNAH9_ENST00000608377.1_Missense_Mutation_p.D197N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3885N|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3885	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGAGCCCTAGATTTTGCAAC	0.428																																					p.D3885N		Atlas-SNP	.											.	DNAH9	695	.	0			c.G11653A						.						91.0	91.0	91.0					17																	11809030		2203	4300	6503	SO:0001583	missense	1770	exon61			GCCCTAGATTTTG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11653G>A	chr17.hg19:g.11809030G>A	ENSP00000262442:p.Asp3885Asn	84.0	0.0		39.0	32.0	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745864	0.89663	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.10960	2.82;2.82;2.82	4.81	4.81	0.61882	Dynein heavy chain (1);	0.143656	0.64402	N	0.000009	T	0.21347	0.0514	L	0.43598	1.365	0.80722	D	1	P;P	0.41569	0.566;0.755	B;P	0.53809	0.285;0.735	T	0.00704	-1.1602	10	0.29301	T	0.29	.	18.4172	0.90574	0.0:0.0:1.0:0.0	.	238;3885	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	N	3885;3885;2467;197;238	ENSP00000262442:D3885N;ENSP00000414874:D3885N;ENSP00000379323:D197N	ENSP00000262442:D3885N	D	+	1	0	DNAH9	11749755	1.000000	0.71417	0.969000	0.41365	0.478000	0.33099	7.711000	0.84669	2.665000	0.90641	0.655000	0.94253	GAT	.	.		0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
CENPV	201161	hgsc.bcm.edu	37	17	16253335	16253335	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:16253335T>C	ENST00000299736.4	-	2	481	c.419A>G	c.(418-420)cAg>cGg	p.Q140R	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	143					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						CACCAGGCCCTGGTATTCACT	0.413																																					p.Q140R		Atlas-SNP	.											.	CENPV	14	.	0			c.A419G						.						55.0	59.0	58.0					17																	16253335		2203	4300	6503	SO:0001583	missense	201161	exon2			AGGCCCTGGTATT	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.419A>G	chr17.hg19:g.16253335T>C	ENSP00000299736:p.Gln140Arg	302.0	1.0		132.0	111.0	NM_181716	B2RPK2|Q3L8N5|Q8NFH6	Missense_Mutation	SNP	ENST00000299736.4	hg19	CCDS32575.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683120	0.47991	.	.	ENSG00000166582	ENST00000299736	.	.	.	5.17	5.17	0.71159	.	0.436886	0.24879	N	0.034878	T	0.23806	0.0576	N	0.08118	0	0.28623	N	0.908075	B	0.29188	0.236	B	0.23716	0.048	T	0.15235	-1.0444	9	0.42905	T	0.14	.	13.2422	0.60004	0.0:0.0:0.0:1.0	.	140	Q7Z7K6-3	.	R	140	.	ENSP00000299736:Q140R	Q	-	2	0	CENPV	16194060	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.333000	0.43912	2.078000	0.62432	0.482000	0.46254	CAG	.	.		0.413	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131877.1	NM_181716	
TRPV2	51393	hgsc.bcm.edu	37	17	16332223	16332223	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:16332223T>A	ENST00000338560.7	+	10	1913	c.1514T>A	c.(1513-1515)cTg>cAg	p.L505Q	TRPV2_ENST00000577397.1_Missense_Mutation_p.L75Q|AC093484.4_ENST00000441875.1_RNA|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	505					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCGCTGGTGCTGGGCTGGCTG	0.597																																					p.L505Q		Atlas-SNP	.											.	TRPV2	74	.	0			c.T1514A						.						140.0	124.0	129.0					17																	16332223		2203	4300	6503	SO:0001583	missense	51393	exon10			TGGTGCTGGGCTG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1514T>A	chr17.hg19:g.16332223T>A	ENSP00000342222:p.Leu505Gln	47.0	0.0		28.0	24.0	NM_016113	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	hg19	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976798	0.53720	.	.	ENSG00000187688	ENST00000338560	D	0.99113	-5.44	5.58	5.58	0.84498	Ion transport (1);	0.139205	0.49305	D	0.000157	D	0.99287	0.9751	M	0.85462	2.755	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	D	0.99180	1.0867	10	0.72032	D	0.01	-12.8692	14.9328	0.70929	0.0:0.0:0.0:1.0	.	505	Q9Y5S1	TRPV2_HUMAN	Q	505	ENSP00000342222:L505Q	ENSP00000342222:L505Q	L	+	2	0	TRPV2	16272948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.559000	0.82265	2.131000	0.65755	0.533000	0.62120	CTG	.	.		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
ZNF287	57336	hgsc.bcm.edu	37	17	16455335	16455335	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:16455335A>T	ENST00000395824.1	-	6	2738	c.2121T>A	c.(2119-2121)aaT>aaA	p.N707K	ZNF287_ENST00000395825.3_Missense_Mutation_p.N707K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	700					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TATCACATTCATTACATTTAT	0.368																																					p.N707K		Atlas-SNP	.											.	ZNF287	60	.	0			c.T2121A						.						143.0	144.0	144.0					17																	16455335		2203	4300	6503	SO:0001583	missense	57336	exon6			ACATTCATTACAT	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.2121T>A	chr17.hg19:g.16455335A>T	ENSP00000379168:p.Asn707Lys	101.0	0.0		217.0	76.0	NM_020653	Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	hg19	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	A	8.541	0.873220	0.17322	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.07021	3.23;3.23	4.89	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.378699	0.22825	N	0.055177	T	0.02533	0.0077	N	0.02202	-0.64	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42258	-0.9462	10	0.25751	T	0.34	.	6.0826	0.19950	0.4411:0.1501:0.4088:0.0	.	700	Q9HBT7	ZN287_HUMAN	K	707	ENSP00000379169:N707K;ENSP00000379168:N707K	ENSP00000379168:N707K	N	-	3	2	ZNF287	16396060	0.000000	0.05858	0.972000	0.41901	0.998000	0.95712	-1.371000	0.02573	-0.393000	0.07739	0.454000	0.30748	AAT	.	.		0.368	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
MAPK7	5598	hgsc.bcm.edu	37	17	19286534	19286534	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:19286534A>T	ENST00000308406.5	+	7	2827	c.2441A>T	c.(2440-2442)cAg>cTg	p.Q814L	MAPK7_ENST00000395604.3_Missense_Mutation_p.Q814L|MAPK7_ENST00000571657.1_3'UTR|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.Q814L|MAPK7_ENST00000299612.7_Missense_Mutation_p.Q675L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	814					cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGACCTCCAGGACCCCTGA	0.602																																					p.Q814L		Atlas-SNP	.											.	MAPK7	72	.	0			c.A2441T						.						46.0	45.0	46.0					17																	19286534		2203	4300	6503	SO:0001583	missense	5598	exon7			ACCTCCAGGACCC	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2441A>T	chr17.hg19:g.19286534A>T	ENSP00000311005:p.Gln814Leu	61.0	0.0		36.0	17.0	NM_002749	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	hg19	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980735	0.53827	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.75260	-0.66;-0.92;-0.66;-0.66	4.91	4.91	0.64330	.	0.136830	0.49916	D	0.000128	T	0.68174	0.2972	L	0.47716	1.5	0.33226	D	0.555299	B	0.14438	0.01	B	0.14023	0.01	T	0.74548	-0.3629	10	0.87932	D	0	-15.4878	12.5144	0.56024	1.0:0.0:0.0:0.0	.	814	Q13164	MK07_HUMAN	L	814;675;814;814	ENSP00000311005:Q814L;ENSP00000299612:Q675L;ENSP00000378968:Q814L;ENSP00000378966:Q814L	ENSP00000299612:Q675L	Q	+	2	0	MAPK7	19227127	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.178000	0.42519	1.841000	0.53522	0.402000	0.26972	CAG	.	.		0.602	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033	
USP22	23326	hgsc.bcm.edu	37	17	20919135	20919135	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:20919135T>A	ENST00000261497.4	-	6	971	c.768A>T	c.(766-768)gcA>gcT	p.A256A	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.A244A	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	256	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GCTCGTAGCCTGCTAGGTGCC	0.637																																					p.A256A		Atlas-SNP	.											.	USP22	45	.	0			c.A768T						.						51.0	60.0	57.0					17																	20919135		2051	4187	6238	SO:0001819	synonymous_variant	23326	exon6			GTAGCCTGCTAGG	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.768A>T	chr17.hg19:g.20919135T>A		46.0	0.0		41.0	16.0	NM_015276	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	hg19	CCDS42285.1																																																																																			.	.		0.637	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1		
KCNJ12	3768	hgsc.bcm.edu	37	17	21319679	21319679	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:21319679A>G	ENST00000583088.1	+	3	1920	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Y342C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	342					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	AAGATTGACTACTCGCACTTC	0.582										Prostate(3;0.18)																											p.Y342C		Atlas-SNP	.											.	.	.	.	0			c.A1025G						.						157.0	155.0	156.0					17																	21319679		2203	4300	6503	SO:0001583	missense	100134444	exon3			TTGACTACTCGCA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1025A>G	chr17.hg19:g.21319679A>G	ENSP00000463778:p.Tyr342Cys	90.0	0.0		67.0	10.0	NM_001194958	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388784	0.61956	.	.	ENSG00000184185	ENST00000331718	D	0.95238	-3.65	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98628	1.0670	10	0.87932	D	0	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	342	Q14500	IRK12_HUMAN	C	342	ENSP00000328150:Y342C	ENSP00000328150:Y342C	Y	+	2	0	KCNJ12	21260272	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.179000	0.94861	2.206000	0.71126	0.533000	0.62120	TAC	.	.		0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
NLK	51701	hgsc.bcm.edu	37	17	26499544	26499544	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:26499544T>A	ENST00000407008.3	+	7	1767	c.1049T>A	c.(1048-1050)tTg>tAg	p.L350*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCTTGTAGTTGGATTTGATC	0.413																																					p.L350X		Atlas-SNP	.											.	NLK	88	.	0			c.T1049A						.						89.0	80.0	83.0					17																	26499544		2202	4300	6502	SO:0001630	splice_region_variant	51701	exon7			TGTAGTTGGATTT	AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1048-1T>A	chr17.hg19:g.26499544T>A		73.0	0.0		61.0	25.0	NM_016231	B2RCX1|Q2PNI9|Q6P2A3	Nonsense_Mutation	SNP	ENST00000407008.3	hg19	CCDS11224.2	.	.	.	.	.	.	.	.	.	.	T	37	6.371926	0.97515	.	.	ENSG00000087095	ENST00000407008	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5408	15.7393	0.77876	0.0:0.0:0.0:1.0	.	.	.	.	X	350	.	ENSP00000384625:L350X	L	+	2	0	NLK	23523671	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.499000	0.81566	2.308000	0.77769	0.533000	0.62120	TTG	.	.		0.413	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231	Nonsense_Mutation
CCL11	6356	hgsc.bcm.edu	37	17	32612882	32612882	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:32612882C>A	ENST00000305869.3	+	1	196	c.55C>A	c.(55-57)Ccc>Acc	p.P19T		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	19					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGCCTTCAGCCCCCAGGGGCT	0.562																																					p.P19T		Atlas-SNP	.											.	CCL11	12	.	0			c.C55A						.						114.0	113.0	114.0					17																	32612882		2203	4300	6503	SO:0001583	missense	6356	exon1			TTCAGCCCCCAGG	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.55C>A	chr17.hg19:g.32612882C>A	ENSP00000302234:p.Pro19Thr	44.0	0.0		43.0	21.0	NM_002986	P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	hg19	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	C	2.604	-0.292243	0.05568	.	.	ENSG00000172156	ENST00000305869	T	0.02472	4.28	4.48	-4.72	0.03269	.	1.482540	0.04225	N	0.334269	T	0.00998	0.0033	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.41910	-0.9482	9	0.02654	T	1	.	0.8354	0.01139	0.3226:0.1627:0.1061:0.4086	.	19	P51671	CCL11_HUMAN	T	19	ENSP00000302234:P19T	ENSP00000302234:P19T	P	+	1	0	CCL11	29636995	0.002000	0.14202	0.066000	0.19879	0.114000	0.19823	-0.527000	0.06200	-0.766000	0.04639	0.462000	0.41574	CCC	.	.		0.562	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986	
NLE1	54475	hgsc.bcm.edu	37	17	33462285	33462285	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:33462285C>A	ENST00000442241.4	-	10	1236	c.1197G>T	c.(1195-1197)tgG>tgT	p.W399C	NLE1_ENST00000360831.5_Missense_Mutation_p.W357C|NLE1_ENST00000586869.1_Missense_Mutation_p.W107C|NLE1_ENST00000593176.1_5'Flank	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	399					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCTGCCATCCCACAGCTTGA	0.562																																					p.W399C		Atlas-SNP	.											.	NLE1	42	.	0			c.G1197T						.						173.0	140.0	151.0					17																	33462285		2203	4300	6503	SO:0001583	missense	54475	exon10			GCCATCCCACAGC		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1197G>T	chr17.hg19:g.33462285C>A	ENSP00000413572:p.Trp399Cys	108.0	0.0		90.0	46.0	NM_018096	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	hg19	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996042|3.996042	0.74703|0.74703	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000360831;ENST00000537697	.|D	.|0.83506	.|-1.73	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94138|0.94138	0.8120|0.8120	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.95742|0.95742	0.8784|0.8784	5|10	.|0.87932	.|D	.|0	-12.2759|-12.2759	16.0884|16.0884	0.81073|0.81073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|375;399	.|B4E074;Q9NVX2	.|.;NLE1_HUMAN	V|C	179|399;107;375	.|ENSP00000413572:W399C	.|ENSP00000354075:W107C	G|W	-|-	2|3	0|0	NLE1|NLE1	30486398|30486398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.122000|7.122000	0.77169|0.77169	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	GGG|TGG	.	.		0.562	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	
UNC45B	146862	hgsc.bcm.edu	37	17	33495163	33495163	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:33495163T>A	ENST00000268876.5	+	10	1332	c.1235T>A	c.(1234-1236)cTg>cAg	p.L412Q	UNC45B_ENST00000591048.1_Missense_Mutation_p.L412Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.L412Q|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.L412Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.L412Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	412					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCCTTTGACCTGGGCAACCAG	0.577																																					p.L412Q		Atlas-SNP	.											.	UNC45B	133	.	0			c.T1235A						.						99.0	81.0	87.0					17																	33495163		2203	4300	6503	SO:0001583	missense	146862	exon10			TTGACCTGGGCAA	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1235T>A	chr17.hg19:g.33495163T>A	ENSP00000268876:p.Leu412Gln	114.0	0.0		101.0	44.0	NM_001267052	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	hg19	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475812	0.84640	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.068819	0.64402	D	0.000019	T	0.59555	0.2202	L	0.44542	1.39	0.36609	D	0.875097	D;D;D	0.69078	0.997;0.991;0.971	D;P;P	0.67725	0.953;0.804;0.824	T	0.68511	-0.5389	10	0.87932	D	0	-15.046	14.3661	0.66807	0.0:0.0:0.0:1.0	.	412;412;412	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	Q	412	ENSP00000378071:L412Q;ENSP00000268876:L412Q;ENSP00000412840:L412Q;ENSP00000367710:L412Q	ENSP00000268876:L412Q	L	+	2	0	UNC45B	30519276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.085000	0.71343	2.233000	0.73108	0.533000	0.62120	CTG	.	.		0.577	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
CCL18	6362	hgsc.bcm.edu	37	17	34398401	34398401	+	Nonstop_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:34398401A>T	ENST00000004921.3	+	3	333	c.270A>T	c.(268-270)tgA>tgT	p.*90C	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000588864.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	0					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGAATGCCTGAGGGGCCTGGA	0.607																																					p.X90C		Atlas-SNP	.											.	CCL18	9	.	0			c.A270T						.						46.0	45.0	45.0					17																	34398401		2203	4300	6503	SO:0001578	stop_lost	6362	exon3			TGCCTGAGGGGCC	Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"""Chemokine ligands"""	10616	protein-coding gene	gene with protein product		603757	"""small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"""	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.270A>T	chr17.hg19:g.34398401A>T	ENSP00000004921:p.*90Cysext*35	146.0	0.0		130.0	72.0	NM_002988	B5BUM2|Q53X71	Missense_Mutation	SNP	ENST00000004921.3	hg19	CCDS11306.1	.	.	.	.	.	.	.	.	.	.	.	5.623	0.299699	0.10622	.	.	ENSG00000006074	ENST00000004921	.	.	.	4.64	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1728	0.10337	0.6805:0.2089:0.1106:0.0	.	.	.	.	C	90	.	.	X	+	3	0	CCL18	31422514	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.204000	0.32296	0.343000	0.23821	0.533000	0.62120	TGA	.	.		0.607	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256583.1	NM_002988	
GPR179	440435	hgsc.bcm.edu	37	17	36485679	36485679	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:36485679C>A	ENST00000342292.4	-	11	3793	c.3773G>T	c.(3772-3774)aGt>aTt	p.S1258I	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1258					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGTTGCCACTGTCTGGCTG	0.602																																					p.S1258I		Atlas-SNP	.											.	GPR179	170	.	0			c.G3773T						.						64.0	67.0	66.0					17																	36485679		1963	4156	6119	SO:0001583	missense	440435	exon11			TTGCCACTGTCTG		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3773G>T	chr17.hg19:g.36485679C>A	ENSP00000345060:p.Ser1258Ile	43.0	0.0		44.0	20.0	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	hg19	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290562	0.23564	.	.	ENSG00000188888	ENST00000342292	T	0.61040	0.14	5.38	3.41	0.39046	.	0.835586	0.10912	N	0.620472	T	0.52613	0.1745	L	0.55481	1.735	0.09310	N	1	P	0.49961	0.93	B	0.41571	0.36	T	0.44298	-0.9337	10	0.72032	D	0.01	-0.1392	9.1095	0.36718	0.0:0.8303:0.0:0.1697	.	1258	Q6PRD1	GP179_HUMAN	I	1258	ENSP00000345060:S1258I	ENSP00000345060:S1258I	S	-	2	0	GPR179	33739205	0.001000	0.12720	0.001000	0.08648	0.034000	0.12701	0.730000	0.26043	0.841000	0.35020	0.462000	0.41574	AGT	.	.		0.602	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
PCGF2	7703	hgsc.bcm.edu	37	17	36891668	36891668	+	Silent	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:36891668G>T	ENST00000580830.1	-	12	1544	c.843C>A	c.(841-843)acC>acA	p.T281T	PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000581345.1_Silent_p.T281T|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000360797.2_Silent_p.T281T|PCGF2_ENST00000585100.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2	281	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CATGGGATGGGGTGGCTGGGC	0.692											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T281T		Atlas-SNP	.											.	PCGF2	24	.	0			c.C843A						.						18.0	14.0	15.0					17																	36891668		2190	4282	6472	SO:0001819	synonymous_variant	7703	exon11			GGATGGGGTGGCT	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.843C>A	chr17.hg19:g.36891668G>T		50.0	0.0	866	55.0	25.0	NM_007144	A6NGD8	Silent	SNP	ENST00000580830.1	hg19	CCDS32638.1																																																																																			.	.		0.692	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144	
CCR7	1236	hgsc.bcm.edu	37	17	38721654	38721654	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:38721654A>T	ENST00000246657.2	-	1	70	c.8T>A	c.(7-9)cTg>cAg	p.L3Q		NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	3					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TCACTCACCCAGGTCCATGAC	0.592																																					p.L3Q		Atlas-SNP	.											CCR7,NS,carcinoma,0,1	CCR7	31	.	0			c.T8A						.						144.0	113.0	124.0					17																	38721654		2203	4300	6503	SO:0001583	missense	1236	exon1			TCACCCAGGTCCA		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.8T>A	chr17.hg19:g.38721654A>T	ENSP00000246657:p.Leu3Gln	71.0	0.0		58.0	15.0	NM_001838		Missense_Mutation	SNP	ENST00000246657.2	hg19	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882786	0.33255	.	.	ENSG00000126353	ENST00000246657	T	0.61510	0.1	4.59	3.48	0.39840	.	6.654570	0.00481	N	0.000125	T	0.47340	0.1440	N	0.22421	0.69	0.80722	D	1	B	0.19583	0.037	B	0.15484	0.013	T	0.31888	-0.9927	10	0.51188	T	0.08	.	7.3185	0.26513	0.898:0.0:0.102:0.0	.	3	P32248	CCR7_HUMAN	Q	3	ENSP00000246657:L3Q	ENSP00000246657:L3Q	L	-	2	0	CCR7	35975180	1.000000	0.71417	0.994000	0.49952	0.653000	0.38743	0.763000	0.26517	0.847000	0.35167	0.450000	0.29827	CTG	.	.		0.592	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1		
KRT24	192666	hgsc.bcm.edu	37	17	38855854	38855854	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:38855854T>C	ENST00000264651.2	-	6	1259	c.1203A>G	c.(1201-1203)tcA>tcG	p.S401S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	401	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTTGAATTTCTGACAGCTGAG	0.463																																					p.S401S	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											.	KRT24	60	.	0			c.A1203G						.						104.0	101.0	102.0					17																	38855854		2203	4300	6503	SO:0001819	synonymous_variant	192666	exon6			AATTTCTGACAGC		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.1203A>G	chr17.hg19:g.38855854T>C		68.0	0.0		73.0	29.0	NM_019016	Q9NXG7	Silent	SNP	ENST00000264651.2	hg19	CCDS11372.1																																																																																			.	.		0.463	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
KRT40	125115	hgsc.bcm.edu	37	17	39137242	39137242	+	Splice_Site	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39137242C>T	ENST00000398486.2	-	6	1009	c.849G>A	c.(847-849)caG>caA	p.Q283Q	KRT40_ENST00000377755.4_Splice_Site_p.Q283Q	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	283	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTACTGACCTGAACAGCCA	0.473																																					p.Q283Q		Atlas-SNP	.											.	KRT40	27	.	0			c.G849A						.						196.0	193.0	194.0					17																	39137242		1955	4171	6126	SO:0001630	splice_region_variant	125115	exon6			ACTGACCTGAACA	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.849+1G>A	chr17.hg19:g.39137242C>T		85.0	0.0		103.0	48.0	NM_182497	Q6IFU5	Silent	SNP	ENST00000398486.2	hg19	CCDS42320.1																																																																																			.	.		0.473	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	Silent
KRT40	125115	hgsc.bcm.edu	37	17	39140425	39140425	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39140425A>T	ENST00000398486.2	-	3	261	c.101T>A	c.(100-102)cTc>cAc	p.L34H	KRT40_ENST00000377755.4_Missense_Mutation_p.L34H	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	34	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGTACCGGGGAGACAAGCTGT	0.577																																					p.L34H		Atlas-SNP	.											.	KRT40	27	.	0			c.T101A						.						47.0	54.0	52.0					17																	39140425		2080	4210	6290	SO:0001583	missense	125115	exon3			CCGGGGAGACAAG	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.101T>A	chr17.hg19:g.39140425A>T	ENSP00000381500:p.Leu34His	110.0	0.0		83.0	36.0	NM_182497	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	hg19	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822064	0.32237	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.83335	-1.71;-1.71	4.92	2.65	0.31530	.	0.293395	0.18722	N	0.133000	T	0.76702	0.4024	M	0.75264	2.295	0.21740	N	0.99956	B	0.23854	0.092	B	0.24269	0.052	T	0.59010	-0.7534	10	0.15066	T	0.55	.	3.4011	0.07324	0.588:0.0:0.2498:0.1622	.	34	Q6A162	K1C40_HUMAN	H	34	ENSP00000366984:L34H;ENSP00000381500:L34H	ENSP00000366984:L34H	L	-	2	0	KRT40	36393951	0.876000	0.30132	0.067000	0.19924	0.022000	0.10575	1.198000	0.32223	0.297000	0.22615	0.482000	0.46254	CTC	.	.		0.577	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
KRTAP9-9	81870	hgsc.bcm.edu	37	17	39411764	39411764	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39411764T>A	ENST00000394008.1	+	1	129	c.127T>A	c.(127-129)Tgc>Agc	p.C43S		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	48	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCTAGCTGCTGCCAGCCTTG	0.642																																					p.C43S		Atlas-SNP	.											.	KRTAP9-9	24	.	0			c.T127A						.																																			SO:0001583	missense	81870	exon1			AGCTGCTGCCAGC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.127T>A	chr17.hg19:g.39411764T>A	ENSP00000377576:p.Cys43Ser	49.0	0.0		37.0	18.0	NM_030975	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	hg19	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.733500	0.30684	.	.	ENSG00000198083	ENST00000394008	T	0.05025	3.51	4.07	1.74	0.24563	.	.	.	.	.	T	0.09774	0.0240	M	0.77616	2.38	0.09310	N	1	B	0.18968	0.032	B	0.19946	0.027	T	0.24333	-1.0163	9	0.62326	D	0.03	.	5.817	0.18497	0.1442:0.0:0.4649:0.3909	.	48	Q9BYP9	KRA99_HUMAN	S	43	ENSP00000377576:C43S	ENSP00000377576:C43S	C	+	1	0	KRTAP9-9	36665290	0.998000	0.40836	0.476000	0.27291	0.849000	0.48306	1.110000	0.31147	0.228000	0.21019	0.374000	0.22700	TGC	.	.		0.642	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975	
KRTAP16-1	100505753	hgsc.bcm.edu	37	17	39464596	39464596	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39464596A>T	ENST00000391352.1	-	1	909	c.910T>A	c.(910-912)Tgt>Agt	p.C304S		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	304	11 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						CTGGAGACACAACAAGAAGGC	0.572																																					p.C304S		Atlas-SNP	.											.	KRTAP16-1	12	.	0			c.T910A						.																																			SO:0001583	missense	100505753	exon1			AGACACAACAAGA	AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.910T>A	chr17.hg19:g.39464596A>T	ENSP00000375147:p.Cys304Ser	68.0	0.0		60.0	24.0	NM_001146182		Missense_Mutation	SNP	ENST00000391352.1	hg19	CCDS56032.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244325	0.39697	.	.	ENSG00000212657	ENST00000391352	T	0.05025	3.51	4.76	1.02	0.19986	.	.	.	.	.	T	0.08670	0.0215	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.31251	-0.9950	7	0.40728	T	0.16	.	6.3625	0.21437	0.5519:0.3004:0.0:0.1476	.	.	.	.	S	304	ENSP00000375147:C304S	ENSP00000375147:C304S	C	-	1	0	KRTAP16-1	36718122	0.042000	0.20092	0.121000	0.21740	0.976000	0.68499	1.428000	0.34892	-0.022000	0.13986	0.402000	0.26972	TGT	.	.		0.572	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257785.1	NM_001146182	
KRTAP16-1	100505753	hgsc.bcm.edu	37	17	39465344	39465344	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39465344A>C	ENST00000391352.1	-	1	161	c.162T>G	c.(160-162)tgT>tgG	p.C54W		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	54						keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						ACTGTGGCCCACAGCTGGATG	0.602																																					p.C54W		Atlas-SNP	.											.	KRTAP16-1	12	.	0			c.T162G						.																																			SO:0001583	missense	100505753	exon1			TGGCCCACAGCTG	AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.162T>G	chr17.hg19:g.39465344A>C	ENSP00000375147:p.Cys54Trp	168.0	0.0		191.0	84.0	NM_001146182		Missense_Mutation	SNP	ENST00000391352.1	hg19	CCDS56032.1	.	.	.	.	.	.	.	.	.	.	A	9.389	1.075132	0.20227	.	.	ENSG00000212657	ENST00000391352	T	0.01119	5.31	5.33	-6.04	0.02178	.	.	.	.	.	T	0.03827	0.0108	M	0.82132	2.575	0.31028	N	0.717708	.	.	.	.	.	.	T	0.00169	-1.1962	7	0.72032	D	0.01	.	12.8167	0.57669	0.7721:0.0:0.2279:0.0	.	.	.	.	W	54	ENSP00000375147:C54W	ENSP00000375147:C54W	C	-	3	2	KRTAP16-1	36718870	0.077000	0.21312	0.003000	0.11579	0.085000	0.17905	-0.160000	0.10041	-1.307000	0.02321	-0.453000	0.05500	TGT	.	.		0.602	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257785.1	NM_001146182	
KRT32	3882	hgsc.bcm.edu	37	17	39619248	39619248	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39619248G>C	ENST00000225899.3	-	6	1154	c.1051C>G	c.(1051-1053)Ctg>Gtg	p.L351V		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	351	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ATCTGGGCCAGCTGGGAGCTG	0.587																																					p.L351V		Atlas-SNP	.											.	KRT32	57	.	0			c.C1051G						.						74.0	74.0	74.0					17																	39619248		2203	4300	6503	SO:0001583	missense	3882	exon6			GGGCCAGCTGGGA	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1051C>G	chr17.hg19:g.39619248G>C	ENSP00000225899:p.Leu351Val	71.0	0.0		76.0	39.0	NM_002278		Missense_Mutation	SNP	ENST00000225899.3	hg19	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503365	0.44558	.	.	ENSG00000108759	ENST00000225899	D	0.89746	-2.56	4.98	2.96	0.34315	Filament (1);	0.000000	0.30109	N	0.010382	D	0.93229	0.7843	M	0.80508	2.5	0.40915	D	0.984267	D	0.57257	0.979	D	0.66084	0.941	D	0.93795	0.7096	10	0.87932	D	0	.	11.5181	0.50534	0.1559:0.0:0.8441:0.0	.	351	Q14532	K1H2_HUMAN	V	351	ENSP00000225899:L351V	ENSP00000225899:L351V	L	-	1	2	KRT32	36872774	0.726000	0.28059	0.999000	0.59377	0.127000	0.20565	1.028000	0.30128	1.219000	0.43474	-0.333000	0.08304	CTG	.	.		0.587	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278	
KRT15	3866	hgsc.bcm.edu	37	17	39673060	39673060	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39673060C>A	ENST00000254043.3	-	3	4323	c.738G>T	c.(736-738)gaG>gaT	p.E246D	KRT15_ENST00000393976.2_Splice_Site_p.E246D|KRT15_ENST00000393974.3_Splice_Site_p.E81D|KRT15_ENST00000393981.3_Splice_Site_p.E81D	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	246	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCTCTCACCTCTTCGTGGT	0.577																																					p.E246D		Atlas-SNP	.											.	KRT15	60	.	0			c.G738T						.						84.0	73.0	77.0					17																	39673060		2203	4300	6503	SO:0001630	splice_region_variant	3866	exon3			TCTCACCTCTTCG		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.738+1G>T	chr17.hg19:g.39673060C>A		45.0	0.0		40.0	14.0	NM_002275	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	hg19	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776217	0.90195	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	4.67	3.69	0.42338	Filament (1);	0.000000	0.47093	D	0.000255	D	0.89217	0.6652	M	0.89904	3.07	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.993;0.993	D;D;D	0.91635	0.999;0.951;0.951	D	0.90751	0.4657	9	.	.	.	.	13.2354	0.59967	0.0:0.9223:0.0:0.0777	.	81;246;246	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	D	246;81;246;81;81	ENSP00000254043:E246D;ENSP00000377544:E81D;ENSP00000377546:E246D;ENSP00000377550:E81D;ENSP00000409282:E81D	.	E	-	3	2	KRT15	36926586	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	2.632000	0.46511	1.169000	0.42739	0.655000	0.94253	GAG	.	.		0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275	Missense_Mutation
KRT9	3857	hgsc.bcm.edu	37	17	39728014	39728014	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:39728014A>G	ENST00000246662.4	-	1	296	c.231T>C	c.(229-231)tcT>tcC	p.S77S	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	77	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AACCACCCCCAGATCCTCCGC	0.582																																					p.S77S		Atlas-SNP	.											.	KRT9	78	.	0			c.T231C						.						106.0	94.0	98.0					17																	39728014		2203	4300	6503	SO:0001819	synonymous_variant	3857	exon1			ACCCCCAGATCCT		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.231T>C	chr17.hg19:g.39728014A>G		162.0	0.0		151.0	52.0	NM_000226	O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	hg19	CCDS32654.1																																																																																			.	.		0.582	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
GHDC	84514	hgsc.bcm.edu	37	17	40345476	40345476	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:40345476C>A	ENST00000301671.8	-	2	565	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	GHDC_ENST00000414034.3_Missense_Mutation_p.G42W|GHDC_ENST00000436923.2_Missense_Mutation_p.G42W|GHDC_ENST00000428494.2_Missense_Mutation_p.G42W|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_Missense_Mutation_p.G42W|GHDC_ENST00000587427.1_Missense_Mutation_p.G42W			Q8N2G8	GHDC_HUMAN	GH3 domain containing	42						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACCAGGGCCCCCCATGCCACT	0.682																																					p.G42W		Atlas-SNP	.											.	GHDC	63	.	0			c.G124T						.						9.0	9.0	9.0					17																	40345476		2159	4221	6380	SO:0001583	missense	84514	exon3			GGGCCCCCCATGC	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.124G>T	chr17.hg19:g.40345476C>A	ENSP00000301671:p.Gly42Trp	33.0	0.0		29.0	12.0	NM_001142622	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	hg19	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541967	0.65198	.	.	ENSG00000167925	ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	5.7	-4.38	0.03622	.	0.740503	0.12512	N	0.462409	T	0.30262	0.0759	N	0.19112	0.55	0.09310	N	1	P;D;D	0.60575	0.876;0.988;0.979	B;P;P	0.59115	0.299;0.852;0.514	T	0.26985	-1.0087	8	.	.	.	-0.2479	7.271	0.26256	0.0:0.2577:0.1373:0.605	.	42;42;42	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	W	42	.	.	G	-	1	0	GHDC	37599002	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.514000	0.02254	-0.348000	0.08286	-0.137000	0.14449	GGG	.	.		0.682	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484	
AOC3	8639	hgsc.bcm.edu	37	17	41004309	41004309	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:41004309T>A	ENST00000308423.2	+	1	1109	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	317			Y -> H (in dbSNP:rs438287).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCTACAGTTCTATCCCCAAGG	0.612																																					p.Y317N	NSCLC(3;192 220 10664 11501 16477)	Atlas-SNP	.											.	AOC3	88	.	0			c.T949A						.						39.0	44.0	43.0					17																	41004309		2197	4298	6495	SO:0001583	missense	8639	exon1			CAGTTCTATCCCC	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.949T>A	chr17.hg19:g.41004309T>A	ENSP00000312326:p.Tyr317Asn	42.0	0.0		55.0	26.0	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	hg19	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	T	3.689	-0.063922	0.07273	.	.	ENSG00000131471	ENST00000308423	T	0.03663	3.85	4.79	-0.566	0.11767	Copper amine oxidase, C-terminal (3);	0.821470	0.11194	N	0.589528	T	0.03220	0.0094	N	0.19112	0.55	0.09310	N	0.999998	B	0.18461	0.028	B	0.31495	0.131	T	0.45818	-0.9235	10	0.72032	D	0.01	.	6.3467	0.21353	0.0:0.2341:0.248:0.5179	.	317	Q16853	AOC3_HUMAN	N	317	ENSP00000312326:Y317N	ENSP00000312326:Y317N	Y	+	1	0	AOC3	38257835	0.123000	0.22298	0.174000	0.22961	0.451000	0.32288	0.273000	0.18662	-0.044000	0.13491	-1.471000	0.01009	TAT	.	T|0.720;C|0.280		0.612	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
NBR1	4077	hgsc.bcm.edu	37	17	41341610	41341610	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:41341610A>T	ENST00000422280.1	+	8	945	c.486A>T	c.(484-486)agA>agT	p.R162S	NBR1_ENST00000589872.1_Missense_Mutation_p.R162S|NBR1_ENST00000389312.4_Missense_Mutation_p.R162S|NBR1_ENST00000542611.1_Missense_Mutation_p.R141S|NBR1_ENST00000341165.6_Missense_Mutation_p.R162S|NBR1_ENST00000590996.1_Missense_Mutation_p.R162S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	162					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCTAGTTCAGAGAACAAGTGG	0.398																																					p.R162S		Atlas-SNP	.											.	NBR1	55	.	0			c.A486T						.						63.0	61.0	62.0					17																	41341610		1839	4089	5928	SO:0001583	missense	4077	exon8			GTTCAGAGAACAA	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.486A>T	chr17.hg19:g.41341610A>T	ENSP00000411250:p.Arg162Ser	115.0	0.0		99.0	49.0	NM_031862	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	hg19	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382993	0.82792	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.54279	1.37;0.58;1.37;1.21	5.87	4.79	0.61399	.	0.054253	0.85682	D	0.000000	T	0.63663	0.2530	M	0.67953	2.075	0.44880	D	0.997896	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.66847	0.947;0.921;0.942	T	0.67405	-0.5679	10	0.87932	D	0	-11.6239	4.7675	0.13139	0.7421:0.0:0.2579:0.0	.	141;162;162	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	162;141;162;162;162	ENSP00000411250:R162S;ENSP00000437545:R141S;ENSP00000343479:R162S;ENSP00000373963:R162S	ENSP00000343479:R162S	R	+	3	2	NBR1	38595136	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.089000	0.50183	2.248000	0.74166	0.533000	0.62120	AGA	.	.		0.398	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899	
NBR1	4077	hgsc.bcm.edu	37	17	41352594	41352594	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:41352594G>C	ENST00000422280.1	+	17	2896	c.2437G>C	c.(2437-2439)Gag>Cag	p.E813Q	NBR1_ENST00000589872.1_Missense_Mutation_p.E813Q|NBR1_ENST00000389312.4_Missense_Mutation_p.E813Q|NBR1_ENST00000542611.1_Missense_Mutation_p.E792Q|NBR1_ENST00000341165.6_Missense_Mutation_p.E813Q|NBR1_ENST00000590996.1_Missense_Mutation_p.E813Q	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	813					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCTAATCCCAGAGGTAGTGGA	0.557																																					p.E813Q		Atlas-SNP	.											.	NBR1	55	.	0			c.G2437C						.						65.0	57.0	59.0					17																	41352594		1568	3582	5150	SO:0001583	missense	4077	exon17			ATCCCAGAGGTAG	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2437G>C	chr17.hg19:g.41352594G>C	ENSP00000411250:p.Glu813Gln	207.0	0.0		180.0	75.0	NM_031862	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	hg19	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218390	0.79464	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000537493;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.51574	1.32;0.7;1.32;1.32	5.66	4.63	0.57726	.	.	.	.	.	T	0.66839	0.2830	M	0.71581	2.175	0.46521	D	0.999087	D;D;D	0.69078	0.997;0.981;0.977	D;P;P	0.75484	0.986;0.845;0.732	T	0.67852	-0.5563	9	0.51188	T	0.08	-5.3917	15.4539	0.75297	0.0:0.2453:0.7547:0.0	.	792;813;813	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	Q	813;792;64;813;813;813	ENSP00000411250:E813Q;ENSP00000437545:E792Q;ENSP00000343479:E813Q;ENSP00000373963:E813Q	ENSP00000343479:E813Q	E	+	1	0	NBR1	38708120	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.879000	0.69690	2.676000	0.91093	0.591000	0.81541	GAG	.	.		0.557	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899	
FZD2	2535	hgsc.bcm.edu	37	17	42635241	42635241	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:42635241G>T	ENST00000315323.3	+	1	317	c.185G>T	c.(184-186)gGc>gTc	p.G62V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	62	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AACCTTCTGGGCCACACGAAC	0.612																																					p.G62V		Atlas-SNP	.											.	FZD2	81	.	0			c.G185T						.						174.0	150.0	158.0					17																	42635241		2203	4300	6503	SO:0001583	missense	2535	exon1			TTCTGGGCCACAC	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.185G>T	chr17.hg19:g.42635241G>T	ENSP00000323901:p.Gly62Val	85.0	0.0		69.0	36.0	NM_001466	Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	hg19	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	18.64	3.667518	0.67814	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.81659	-1.52	4.14	4.14	0.48551	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94697	0.7879	10	0.87932	D	0	.	16.0247	0.80536	0.0:0.0:1.0:0.0	.	62	Q14332	FZD2_HUMAN	V	138;62	ENSP00000323901:G62V	ENSP00000323901:G62V	G	+	2	0	FZD2	39990767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.656000	0.83736	1.848000	0.53677	0.462000	0.41574	GGC	.	.		0.612	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466	
C17orf104	284071	hgsc.bcm.edu	37	17	42750732	42750732	+	Splice_Site	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:42750732A>C	ENST00000409122.2	+	7	2599		c.e7-1		RP11-1072C15.4_ENST00000591628.1_RNA	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104											autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TGCTTCCCTCAGGTTGTGACT	0.368																																					.		Atlas-SNP	.											.	C17orf104	75	.	0			c.2458-2A>C						.						208.0	175.0	185.0					17																	42750732		692	1591	2283	SO:0001630	splice_region_variant	284071	exon7			TCCCTCAGGTTGT		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2458-1A>C	chr17.hg19:g.42750732A>C		49.0	0.0		63.0	24.0	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Splice_Site	SNP	ENST00000409122.2	hg19	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110358	0.77210	.	.	ENSG00000180336	ENST00000409122	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9161	0.79521	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf104	40106258	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.071000	0.89494	2.171000	0.68590	0.528000	0.53228	.	.	.		0.368	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	Intron
HOXB6	3216	hgsc.bcm.edu	37	17	46675506	46675506	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:46675506A>T	ENST00000484302.2	-	2	629	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000225648.3_Missense_Mutation_p.S3T|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA			P17509	HXB6_HUMAN	homeobox B6	3					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACGAAATAGGAACTCATTGGG	0.597																																					p.S3T		Atlas-SNP	.											.	HOXB6	13	.	0			c.T7A						.						8.0	10.0	9.0					17																	46675506		2158	4218	6376	SO:0001583	missense	3216	exon3			AATAGGAACTCAT		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.7T>A	chr17.hg19:g.46675506A>T	ENSP00000420009:p.Ser3Thr	68.0	0.0		67.0	31.0	NM_018952	A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	hg19	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756445	0.89843	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.94537	-3.45;-3.45	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	D	0.96873	0.8979	M	0.76170	2.325	0.58432	D	0.999999	D;D	0.89917	0.974;1.0	D;D	0.83275	0.953;0.996	D	0.97462	1.0035	10	0.87932	D	0	.	15.007	0.71519	1.0:0.0:0.0:0.0	.	3;3	P17509-2;P17509	.;HXB6_HUMAN	T	3	ENSP00000420009:S3T;ENSP00000225648:S3T	ENSP00000225648:S3T	S	-	1	0	HOXB6	44030505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.592000	0.90828	2.208000	0.71279	0.459000	0.35465	TCC	.	.		0.597	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2		
SPOP	8405	hgsc.bcm.edu	37	17	47679227	47679227	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:47679227T>C	ENST00000393328.2	-	10	1345	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	SPOP_ENST00000504102.1_Splice_Site_p.Y327C|SPOP_ENST00000347630.2_Splice_Site_p.Y327C|SPOP_ENST00000503676.1_Splice_Site_p.Y327C|SPOP_ENST00000393331.3_Splice_Site_p.Y327C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	327	Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCCAACTCACTAGTTGATGAA	0.438										Prostate(2;0.17)																											p.Y327C		Atlas-SNP	.											.	SPOP	91	.	0			c.A980G						.						95.0	96.0	96.0					17																	47679227		2203	4300	6503	SO:0001630	splice_region_variant	8405	exon9			ACTCACTAGTTGA	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.980+1A>G	chr17.hg19:g.47679227T>C		99.0	0.0		76.0	37.0	NM_001007228	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	hg19	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269140	0.40095	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.55036	-0.8203	10	0.52906	T	0.07	-0.0427	15.2499	0.73536	0.0:0.0:0.0:1.0	.	327	O43791	SPOP_HUMAN	C	327;327;327;327;211;327;280	ENSP00000377001:Y327C;ENSP00000377004:Y327C;ENSP00000240327:Y327C;ENSP00000425905:Y327C;ENSP00000420908:Y327C	ENSP00000240327:Y327C	Y	-	2	0	SPOP	45034226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.080000	0.50112	2.273000	0.75805	0.482000	0.46254	TAT	.	.		0.438	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563	Missense_Mutation
SPOP	8405	hgsc.bcm.edu	37	17	47699405	47699405	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:47699405T>A	ENST00000393328.2	-	4	468	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	SPOP_ENST00000504102.1_Missense_Mutation_p.M35L|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.M35L|SPOP_ENST00000503676.1_Missense_Mutation_p.M35L|SPOP_ENST00000393331.3_Missense_Mutation_p.M35L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	35	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATGGTCCACATGTAGGAGAAT	0.373										Prostate(2;0.17)																											p.M35L		Atlas-SNP	.											.	SPOP	91	.	0			c.A103T						.						55.0	53.0	54.0					17																	47699405		2203	4300	6503	SO:0001583	missense	8405	exon3			TCCACATGTAGGA	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.103A>T	chr17.hg19:g.47699405T>A	ENSP00000377001:p.Met35Leu	148.0	0.0		120.0	55.0	NM_001007228	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	hg19	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282096	0.59867	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476;ENST00000508805	T;T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.48	5.48	0.80851	TRAF-type (1);TRAF-like (1);MATH (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	N	0.01242	-0.935	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15983	-1.0418	10	0.15499	T	0.54	-0.9742	15.4048	0.74868	0.0:0.0:0.0:1.0	.	35	O43791	SPOP_HUMAN	L	35	ENSP00000377001:M35L;ENSP00000377004:M35L;ENSP00000240327:M35L;ENSP00000425905:M35L;ENSP00000420908:M35L;ENSP00000426986:M35L;ENSP00000420960:M35L;ENSP00000426262:M35L;ENSP00000424119:M35L;ENSP00000426537:M35L;ENSP00000425410:M35L	ENSP00000240327:M35L	M	-	1	0	SPOP	45054404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.307000	0.77673	0.528000	0.53228	ATG	.	.		0.373	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563	
MYCBPAP	84073	hgsc.bcm.edu	37	17	48597032	48597032	+	Missense_Mutation	SNP	T	T	A	rs183786523		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:48597032T>A	ENST00000323776.5	+	7	1091	c.929T>A	c.(928-930)cTg>cAg	p.L310Q	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.L273Q|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGAGTCGACTGGAATACTTG	0.537																																					p.L310Q		Atlas-SNP	.											.	MYCBPAP	135	.	0			c.T929A						.						92.0	83.0	86.0					17																	48597032		2203	4300	6503	SO:0001583	missense	84073	exon7			GTCGACTGGAATA	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.929T>A	chr17.hg19:g.48597032T>A	ENSP00000323184:p.Leu310Gln	109.0	0.0		82.0	45.0	NM_032133		Missense_Mutation	SNP	ENST00000323776.5	hg19	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732647	0.69189	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.40756	1.02;1.02	5.86	3.56	0.40772	.	0.141462	0.46758	D	0.000264	T	0.51058	0.1652	M	0.72479	2.2	0.36170	D	0.848702	D;D	0.71674	0.998;0.998	D;D	0.65443	0.935;0.935	T	0.59423	-0.7457	10	0.11182	T	0.66	-5.2915	4.6699	0.12683	0.0:0.4328:0.0:0.5672	.	273;310	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	Q	310;273	ENSP00000323184:L310Q;ENSP00000397209:L273Q	ENSP00000323184:L310Q	L	+	2	0	MYCBPAP	45952031	0.994000	0.37717	0.967000	0.41034	0.936000	0.57629	2.892000	0.48625	1.035000	0.39972	0.460000	0.39030	CTG	.	T|1.000;C|0.000		0.537	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
AKAP1	8165	hgsc.bcm.edu	37	17	55187406	55187406	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:55187406G>T	ENST00000337714.3	+	3	1968	c.1735G>T	c.(1735-1737)Gat>Tat	p.D579Y	AKAP1_ENST00000572557.1_Missense_Mutation_p.D579Y|AKAP1_ENST00000539273.1_Missense_Mutation_p.D579Y|AKAP1_ENST00000571629.1_Missense_Mutation_p.D579Y	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	579					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GAACAGCATGGATTCCGTGGA	0.532																																					p.D579Y		Atlas-SNP	.											.	AKAP1	73	.	0			c.G1735T						.						93.0	87.0	89.0					17																	55187406		2203	4300	6503	SO:0001583	missense	8165	exon4			AGCATGGATTCCG	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1735G>T	chr17.hg19:g.55187406G>T	ENSP00000337736:p.Asp579Tyr	77.0	0.0		77.0	27.0	NM_001242902	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	hg19	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124410	0.56613	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.27256	1.68;1.68	5.18	5.18	0.71444	.	0.049094	0.85682	D	0.000000	T	0.52289	0.1725	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55897	-0.8068	10	0.87932	D	0	-18.2913	17.7148	0.88333	0.0:0.0:1.0:0.0	.	579	Q92667	AKAP1_HUMAN	Y	579;621;579	ENSP00000337736:D579Y;ENSP00000443139:D579Y	ENSP00000337736:D579Y	D	+	1	0	AKAP1	52542405	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	9.303000	0.96183	2.426000	0.82243	0.655000	0.94253	GAT	.	.		0.532	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1		
USP32	84669	hgsc.bcm.edu	37	17	58260585	58260585	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:58260585T>A	ENST00000300896.4	-	31	4258	c.4064A>T	c.(4063-4065)gAc>gTc	p.D1355V	USP32_ENST00000592339.1_Missense_Mutation_p.D1025V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAGGAGCACGTCCTCTTCCCC	0.577																																					p.D1355V		Atlas-SNP	.											.	USP32	128	.	0			c.A4064T						.						75.0	69.0	71.0					17																	58260585		2203	4300	6503	SO:0001583	missense	84669	exon31			AGCACGTCCTCTT	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4064A>T	chr17.hg19:g.58260585T>A	ENSP00000300896:p.Asp1355Val	137.0	0.0		130.0	70.0	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	hg19	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163053	0.38217	.	.	ENSG00000170832	ENST00000300896	T	0.46063	0.88	5.79	2.3	0.28687	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.293915	0.35870	N	0.002929	T	0.24005	0.0581	N	0.24115	0.695	0.36937	D	0.89218	B	0.02656	0.0	B	0.06405	0.002	T	0.08806	-1.0704	10	0.56958	D	0.05	.	3.4903	0.07636	0.1347:0.0724:0.1412:0.6517	.	1355	Q8NFA0	UBP32_HUMAN	V	1355	ENSP00000300896:D1355V	ENSP00000300896:D1355V	D	-	2	0	USP32	55615367	0.673000	0.27539	0.159000	0.22649	0.961000	0.63080	1.170000	0.31883	0.107000	0.17824	0.455000	0.32223	GAC	.	.		0.577	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
BRIP1	83990	hgsc.bcm.edu	37	17	59793426	59793426	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:59793426T>A	ENST00000259008.2	-	17	2647		c.e17-2		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAGTTCAACCtaataatttta	0.289			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													.		Atlas-SNP	.	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	BRIP1	237	.	0			c.2380-2A>T						.						29.0	28.0	28.0					17																	59793426		2203	4299	6502	SO:0001630	splice_region_variant	83990	exon18			TCAACCTAATAAT	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2380-2A>T	chr17.hg19:g.59793426T>A		54.0	0.0		39.0	16.0	NM_032043	Q3MJE2|Q8NCI5	Splice_Site	SNP	ENST00000259008.2	hg19	CCDS11631.1																																																																																			.	.		0.289	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	Intron
MRC2	9902	hgsc.bcm.edu	37	17	60744225	60744225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:60744225G>T	ENST00000303375.5	+	5	1369	c.967G>T	c.(967-969)Gag>Tag	p.E323*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	323	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCTCAACTGGGAGAGTGGTGA	0.637																																					p.E323X		Atlas-SNP	.											.	MRC2	126	.	0			c.G967T						.						56.0	58.0	58.0					17																	60744225		2203	4300	6503	SO:0001587	stop_gained	9902	exon5			AACTGGGAGAGTG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.967G>T	chr17.hg19:g.60744225G>T	ENSP00000307513:p.Glu323*	98.0	0.0		79.0	37.0	NM_006039	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Nonsense_Mutation	SNP	ENST00000303375.5	hg19	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	41	8.802297	0.98960	.	.	ENSG00000011028	ENST00000303375	.	.	.	3.77	3.77	0.43336	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-13.1823	15.7977	0.78424	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000307513:E323X	E	+	1	0	MRC2	58097957	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.657000	0.98554	1.939000	0.56221	0.462000	0.41574	GAG	.	.		0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1		
BPTF	2186	hgsc.bcm.edu	37	17	65907751	65907751	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:65907751A>G	ENST00000321892.4	+	13	4190	c.4129A>G	c.(4129-4131)Agt>Ggt	p.S1377G	BPTF_ENST00000306378.6_Missense_Mutation_p.S1251G|BPTF_ENST00000424123.3_Missense_Mutation_p.S1238G|BPTF_ENST00000335221.5_Missense_Mutation_p.S1377G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1377					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTTCCAAGAGTGCTTTACA	0.418																																					p.S1377G		Atlas-SNP	.											.	BPTF	415	.	0			c.A4129G						.						94.0	90.0	91.0					17																	65907751		2203	4300	6503	SO:0001583	missense	2186	exon13			TCCAAGAGTGCTT	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4129A>G	chr17.hg19:g.65907751A>G	ENSP00000315454:p.Ser1377Gly	126.0	0.0		122.0	49.0	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	hg19		.	.	.	.	.	.	.	.	.	.	A	4.645	0.119989	0.08881	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63580	-0.05;-0.05;-0.05	5.72	4.64	0.57946	.	.	.	.	.	T	0.49440	0.1557	L	0.29908	0.895	0.09310	N	1	B;B	0.33940	0.372;0.433	B;B	0.33454	0.114;0.164	T	0.43015	-0.9417	9	0.54805	T	0.06	-0.116	9.2717	0.37675	0.8434:0.0:0.1566:0.0	.	1251;1377	Q12830-2;Q12830-4	.;.	G	1251;1377;1377	ENSP00000307208:S1251G;ENSP00000334351:S1377G;ENSP00000315454:S1377G	ENSP00000307208:S1251G	S	+	1	0	BPTF	63338213	0.500000	0.26091	0.200000	0.23457	0.702000	0.40608	1.892000	0.39748	0.991000	0.38814	0.528000	0.53228	AGT	.	.		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
RNF157	114804	hgsc.bcm.edu	37	17	74151646	74151646	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:74151646T>C	ENST00000269391.6	-	15	1827	c.1695A>G	c.(1693-1695)ggA>ggG	p.G565G	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157_ENST00000319945.6_Silent_p.G565G	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	565							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCCTTACCTCTCCTTCTTCTG	0.587																																					p.G565G	GBM(186;507 2120 27388 27773 52994)	Atlas-SNP	.											.	RNF157	66	.	0			c.A1695G						.						42.0	44.0	44.0					17																	74151646		2202	4299	6501	SO:0001819	synonymous_variant	114804	exon15			TACCTCTCCTTCT	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1695A>G	chr17.hg19:g.74151646T>C		52.0	0.0		55.0	17.0	NM_052916	Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	hg19	CCDS32740.1																																																																																			.	.		0.587	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
SEC14L1	6397	hgsc.bcm.edu	37	17	75196640	75196640	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:75196640G>T	ENST00000413679.2	+	9	1197	c.894G>T	c.(892-894)atG>atT	p.M298I	SEC14L1_ENST00000443798.4_Missense_Mutation_p.M298I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M264I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M298I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M264I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M298I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.M298I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.M298I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	298					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GAGAGATCATGTGTCAGTCTT	0.448																																					p.M298I		Atlas-SNP	.											.	SEC14L1	81	.	0			c.G894T						.						147.0	141.0	143.0					17																	75196640		2203	4300	6503	SO:0001583	missense	6397	exon11			GATCATGTGTCAG	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.894G>T	chr17.hg19:g.75196640G>T	ENSP00000394716:p.Met298Ile	92.0	0.0		60.0	25.0	NM_001204408	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	hg19	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674621	0.47781	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.69306	-0.28;-0.28;-0.28;-0.28;-0.28;-0.39	5.4	3.22	0.36961	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.148106	0.64402	D	0.000008	T	0.49525	0.1562	N	0.22421	0.69	0.35984	D	0.836204	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55515	-0.8129	10	0.52906	T	0.07	-36.1981	9.3747	0.38275	0.0:0.3855:0.4608:0.1537	.	298;298	Q92503-2;Q92503	.;S14L1_HUMAN	I	298;298;298;298;298;264	ENSP00000376268:M298I;ENSP00000406030:M298I;ENSP00000390392:M298I;ENSP00000408169:M298I;ENSP00000394716:M298I;ENSP00000389838:M264I	ENSP00000376268:M298I	M	+	3	0	SEC14L1	72708235	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.242000	0.32755	1.368000	0.46115	0.650000	0.86243	ATG	.	.		0.448	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
TK1	7083	hgsc.bcm.edu	37	17	76170929	76170929	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:76170929A>G	ENST00000301634.7	-	7	854	c.616T>C	c.(616-618)Tgc>Cgc	p.C206R	TK1_ENST00000405273.1_Missense_Mutation_p.C206R|TK1_ENST00000588734.1_Missense_Mutation_p.C239R|TK1_ENST00000590862.1_Intron|TK1_ENST00000590430.1_3'UTR	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	206					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	GGCACTGGGCAGTTCTCTTTG	0.612																																					p.C206R		Atlas-SNP	.											.	TK1	23	.	0			c.T616C						.						43.0	42.0	42.0					17																	76170929		2203	4300	6503	SO:0001583	missense	7083	exon7			CTGGGCAGTTCTC		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.616T>C	chr17.hg19:g.76170929A>G	ENSP00000301634:p.Cys206Arg	65.0	0.0		49.0	22.0	NM_003258	B2RC58|Q969V0|Q9UMG9	Missense_Mutation	SNP	ENST00000301634.7	hg19	CCDS11754.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628987	0.28978	.	.	ENSG00000167900	ENST00000301634;ENST00000405273	.	.	.	5.7	4.61	0.57282	.	0.640586	0.17349	N	0.177448	T	0.41143	0.1146	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20140	-1.0284	9	0.35671	T	0.21	-12.3596	6.6955	0.23197	0.5999:0.3222:0.0779:0.0	.	206;206	B5BU32;P04183	.;KITH_HUMAN	R	206	.	ENSP00000301634:C206R	C	-	1	0	TK1	73682524	0.970000	0.33590	0.991000	0.47740	0.926000	0.56050	0.667000	0.25112	0.957000	0.37930	0.533000	0.62120	TGC	.	.		0.612	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258	
TMEM105	284186	hgsc.bcm.edu	37	17	79287489	79287489	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:79287489C>T	ENST00000332900.1	-	3	901	c.352G>A	c.(352-354)Ggg>Agg	p.G118R		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	118						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCCCACAGCCCCTTCATCCTC	0.602																																					p.G118R		Atlas-SNP	.											.	TMEM105	19	.	0			c.G352A						.						53.0	58.0	57.0					17																	79287489		2203	4300	6503	SO:0001583	missense	284186	exon3			ACAGCCCCTTCAT	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.352G>A	chr17.hg19:g.79287489C>T	ENSP00000329795:p.Gly118Arg	138.0	0.0		65.0	52.0	NM_178520		Missense_Mutation	SNP	ENST00000332900.1	hg19	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064680	0.20067	.	.	ENSG00000185332	ENST00000332900	T	0.58797	0.31	1.76	-0.629	0.11533	.	.	.	.	.	T	0.33147	0.0853	N	0.08118	0	0.09310	N	1	P	0.39094	0.659	B	0.40134	0.32	T	0.22765	-1.0207	9	0.87932	D	0	.	3.1892	0.06612	0.0:0.5348:0.2781:0.1871	.	118	Q8N8V8	TM105_HUMAN	R	118	ENSP00000329795:G118R	ENSP00000329795:G118R	G	-	1	0	TMEM105	76902084	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.416000	0.07097	-0.106000	0.12110	0.313000	0.20887	GGG	.	.		0.602	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520	
TBCD	6904	hgsc.bcm.edu	37	17	80887026	80887026	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr17:80887026A>T	ENST00000355528.4	+	31	2861	c.2731A>T	c.(2731-2733)Agt>Tgt	p.S911C	TBCD_ENST00000539345.2_Missense_Mutation_p.S911C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	911					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCAGCAGGCCAGTGAGAAGAT	0.607																																					p.S911C		Atlas-SNP	.											.	TBCD	94	.	0			c.A2731T						.						69.0	75.0	73.0					17																	80887026		2175	4264	6439	SO:0001583	missense	6904	exon31			CAGGCCAGTGAGA	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2731A>T	chr17.hg19:g.80887026A>T	ENSP00000347719:p.Ser911Cys	32.0	0.0		18.0	15.0	NM_005993	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	hg19	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.130845	0.37630	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.30981	1.51	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.128422	0.53938	D	0.000051	T	0.25827	0.0629	L	0.50333	1.59	0.80722	D	1	B;B;B	0.27910	0.077;0.044;0.193	B;B;B	0.27170	0.077;0.055;0.077	T	0.07888	-1.0749	9	.	.	.	.	7.8514	0.29457	0.908:0.0:0.092:0.0	.	662;911;911	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	C	911;662	ENSP00000347719:S911C	.	S	+	1	0	TBCD	78480315	1.000000	0.71417	0.458000	0.27068	0.556000	0.35491	4.036000	0.57304	2.001000	0.58596	0.533000	0.62120	AGT	.	.		0.607	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	
EPB41L3	23136	hgsc.bcm.edu	37	18	5396213	5396213	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:5396213T>C	ENST00000341928.2	-	19	3300	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	EPB41L3_ENST00000400111.3_Missense_Mutation_p.Y765C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.Y292C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.Y284C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.Y818C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Y987C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.Y765C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	987	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGATGATTCATATGTGATGGT	0.443																																					p.Y987C		Atlas-SNP	.											.	EPB41L3	222	.	0			c.A2960G						.						295.0	284.0	288.0					18																	5396213		2203	4300	6503	SO:0001583	missense	23136	exon19			GATTCATATGTGA	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2960A>G	chr18.hg19:g.5396213T>C	ENSP00000343158:p.Tyr987Cys	80.0	0.0		36.0	31.0	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572307	0.86542	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.84	5.84	0.93424	Band 4.1, C-terminal (1);	0.385314	0.25321	N	0.031519	D	0.88584	0.6476	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.993;0.998;0.999;0.973;1.0;0.998	D	0.89322	0.3641	10	0.56958	D	0.05	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	818;284;292;379;656;765;987;222	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	C	987;656;818;656;284;292;987;765	ENSP00000343158:Y987C;ENSP00000441174:Y818C;ENSP00000392195:Y284C;ENSP00000442233:Y292C;ENSP00000341138:Y987C;ENSP00000382981:Y765C	ENSP00000343158:Y987C	Y	-	2	0	EPB41L3	5386213	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	7.973000	0.88032	2.230000	0.72887	0.528000	0.53228	TAT	.	.		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
EPB41L3	23136	hgsc.bcm.edu	37	18	5416315	5416315	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:5416315T>C	ENST00000341928.2	-	13	1909	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Silent_p.T523T|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	523	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGTGGGAGATGTGGGGGCAC	0.562																																					p.T523T		Atlas-SNP	.											.	EPB41L3	222	.	0			c.A1569G						.						50.0	50.0	50.0					18																	5416315		2203	4300	6503	SO:0001819	synonymous_variant	23136	exon13			GGGAGATGTGGGG	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1569A>G	chr18.hg19:g.5416315T>C		35.0	0.0		26.0	19.0	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	hg19	CCDS11838.1																																																																																			.	.		0.562	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
TUBB6	84617	hgsc.bcm.edu	37	18	12325366	12325366	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:12325366T>A	ENST00000317702.5	+	4	812	c.578T>A	c.(577-579)gTg>gAg	p.V193E	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	193					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CACCAGCTGGTGGAGAATACA	0.592																																					p.V193E		Atlas-SNP	.											.	TUBB6	35	.	0			c.T578A						.						183.0	148.0	160.0					18																	12325366		2203	4300	6503	SO:0001583	missense	84617	exon4			AGCTGGTGGAGAA	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.578T>A	chr18.hg19:g.12325366T>A	ENSP00000318697:p.Val193Glu	111.0	0.0		45.0	36.0	NM_032525	B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	hg19	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141666	0.57044	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.69306	-0.39	5.03	5.03	0.67393	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.969;0.998	D	0.93087	0.6496	10	0.87932	D	0	.	15.0606	0.71951	0.0:0.0:0.0:1.0	.	165;193	B4DP54;Q9BUF5	.;TBB6_HUMAN	E	193;121;165	ENSP00000318697:V193E	ENSP00000318697:V193E	V	+	2	0	TUBB6	12315366	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.146000	0.71777	2.025000	0.59659	0.374000	0.22700	GTG	.	.		0.592	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
ROCK1	6093	hgsc.bcm.edu	37	18	18559965	18559965	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:18559965T>C	ENST00000399799.2	-	22	3500	c.2560A>G	c.(2560-2562)Aca>Gca	p.T854A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	854	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTATAAAGTGTCTGCAAAACA	0.269																																					p.T854A		Atlas-SNP	.											.	ROCK1	162	.	0			c.A2560G						.						40.0	38.0	38.0					18																	18559965		2185	4284	6469	SO:0001630	splice_region_variant	6093	exon22			AAAGTGTCTGCAA		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2560-1A>G	chr18.hg19:g.18559965T>C		60.0	0.0		47.0	20.0	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	hg19	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256131	0.80246	.	.	ENSG00000067900	ENST00000399799	T	0.65549	-0.16	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.76170	2.325	0.58432	D	0.999996	P	0.50066	0.931	P	0.48089	0.566	T	0.71517	-0.4569	10	0.42905	T	0.14	.	14.7008	0.69154	0.0:0.0:0.0:1.0	.	854	Q13464	ROCK1_HUMAN	A	854	ENSP00000382697:T854A	ENSP00000382697:T854A	T	-	1	0	ROCK1	16813963	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.203000	0.77864	2.134000	0.65973	0.460000	0.39030	ACA	.	.		0.269	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	Missense_Mutation
MIB1	57534	hgsc.bcm.edu	37	18	19345790	19345790	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:19345790T>A	ENST00000261537.6	+	2	551	c.287T>A	c.(286-288)aTt>aAt	p.I96N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	96					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATCATTGGCATTCGATGGAAG	0.383																																					p.I96N		Atlas-SNP	.											.	MIB1	87	.	0			c.T287A						.						145.0	129.0	135.0					18																	19345790		2203	4300	6503	SO:0001583	missense	57534	exon2			TTGGCATTCGATG	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.287T>A	chr18.hg19:g.19345790T>A	ENSP00000261537:p.Ile96Asn	59.0	0.0		49.0	32.0	NM_020774	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	hg19	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.852564	0.91355	.	.	ENSG00000101752	ENST00000261537	D	0.91124	-2.79	5.79	5.79	0.91817	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	L	0.61036	1.89	0.80722	D	1	P	0.49961	0.93	P	0.62298	0.9	D	0.94512	0.7719	10	0.87932	D	0	-7.2449	16.1113	0.81266	0.0:0.0:0.0:1.0	.	96	Q86YT6	MIB1_HUMAN	N	96	ENSP00000261537:I96N	ENSP00000261537:I96N	I	+	2	0	MIB1	17599788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.759000	0.85235	2.213000	0.71641	0.482000	0.46254	ATT	.	.		0.383	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
CABLES1	91768	hgsc.bcm.edu	37	18	20774494	20774494	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:20774494A>G	ENST00000256925.7	+	3	1000	c.1000A>G	c.(1000-1002)Agg>Ggg	p.R334G	CABLES1_ENST00000400473.2_Missense_Mutation_p.R7G|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.R69G	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	334	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACACGATACCAGGAATGGCAG	0.463																																					p.R334G		Atlas-SNP	.											.	CABLES1	32	.	0			c.A1000G						.						67.0	64.0	65.0					18																	20774494		1940	4153	6093	SO:0001583	missense	91768	exon3			GATACCAGGAATG	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1000A>G	chr18.hg19:g.20774494A>G	ENSP00000256925:p.Arg334Gly	62.0	0.0		53.0	29.0	NM_001100619	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	hg19	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454910	0.63290	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.53857	0.6;0.63;0.68	5.77	5.77	0.91146	.	0.131649	0.64402	D	0.000003	T	0.54287	0.1849	M	0.65975	2.015	0.47511	D	0.999442	B;P	0.42871	0.096;0.792	B;B	0.40329	0.073;0.326	T	0.57057	-0.7876	10	0.40728	T	0.16	-0.2103	16.1024	0.81184	1.0:0.0:0.0:0.0	.	69;334	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	G	7;334;69	ENSP00000383321:R7G;ENSP00000256925:R334G;ENSP00000413851:R69G	ENSP00000256925:R334G	R	+	1	2	CABLES1	19028492	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.375000	0.66173	2.200000	0.70718	0.459000	0.35465	AGG	.	.		0.463	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	
C18orf8	29919	hgsc.bcm.edu	37	18	21104400	21104400	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:21104400A>G	ENST00000269221.3	+	12	1124	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S	C18orf8_ENST00000590868.1_Silent_p.S290S	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	338						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGATTCTTCATCTTGGATTG	0.453																																					p.S338S		Atlas-SNP	.											.	C18orf8	58	.	0			c.A1014G						.						131.0	120.0	124.0					18																	21104400		2203	4300	6503	SO:0001819	synonymous_variant	29919	exon12			TTCTTCATCTTGG	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.1014A>G	chr18.hg19:g.21104400A>G		64.0	0.0		55.0	21.0	NM_013326	Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	hg19	CCDS32803.1																																																																																			.	.		0.453	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
ZNF521	25925	hgsc.bcm.edu	37	18	22669533	22669533	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:22669533C>A	ENST00000361524.3	-	7	3950	c.3802G>T	c.(3802-3804)Gca>Tca	p.A1268S	ZNF521_ENST00000538137.2_Missense_Mutation_p.A1268S|ZNF521_ENST00000584787.1_Missense_Mutation_p.A1048S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1268					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AACTTGTTTGCTTGAACAAAT	0.413			T	PAX5	ALL																																p.A1268S		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.G3802T						.						150.0	139.0	142.0					18																	22669533		2203	4300	6503	SO:0001583	missense	25925	exon7			TGTTTGCTTGAAC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3802G>T	chr18.hg19:g.22669533C>A	ENSP00000354794:p.Ala1268Ser	110.0	0.0		102.0	40.0	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558155	0.65538	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.27402	1.67	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000002	T	0.37758	0.1015	N	0.12527	0.23	0.53005	D	0.999969	D	0.76494	0.999	D	0.91635	0.999	T	0.16600	-1.0397	10	0.12103	T	0.63	-14.2605	20.0132	0.97467	0.0:1.0:0.0:0.0	.	1268	Q96K83	ZN521_HUMAN	S	1268;1302;1268	ENSP00000354794:A1268S	ENSP00000354794:A1268S	A	-	1	0	ZNF521	20923531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.708000	0.92522	0.650000	0.86243	GCA	.	.		0.413	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ZNF521	25925	hgsc.bcm.edu	37	18	22806527	22806527	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:22806527A>T	ENST00000361524.3	-	4	1503	c.1355T>A	c.(1354-1356)cTa>cAa	p.L452Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.L452Q|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.L232Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	452					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATGTTCATTTAGGTTATAGAG	0.453			T	PAX5	ALL																																p.L452Q		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.T1355A						.						89.0	89.0	89.0					18																	22806527		2203	4300	6503	SO:0001583	missense	25925	exon4			TCATTTAGGTTAT	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1355T>A	chr18.hg19:g.22806527A>T	ENSP00000354794:p.Leu452Gln	91.0	0.0		69.0	41.0	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329747	0.24167	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.22336	1.96;2.17	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.46034	0.1372	M	0.61703	1.905	0.42541	D	0.993072	D	0.89917	1.0	D	0.97110	1.0	T	0.41858	-0.9485	10	0.87932	D	0	-10.5503	16.6127	0.84892	1.0:0.0:0.0:0.0	.	452	Q96K83	ZN521_HUMAN	Q	452;486;452	ENSP00000354794:L452Q;ENSP00000382352:L452Q	ENSP00000354794:L452Q	L	-	2	0	ZNF521	21060525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.322000	0.78497	0.528000	0.53228	CTA	.	.		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ZNF521	25925	hgsc.bcm.edu	37	18	22807425	22807425	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:22807425T>A	ENST00000361524.3	-	4	605	c.457A>T	c.(457-459)Agg>Tgg	p.R153W	ZNF521_ENST00000538137.2_Missense_Mutation_p.R153W|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	153					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGAACAGCCTACTGCAGTAG	0.498			T	PAX5	ALL																																p.R153W		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.A457T						.						134.0	123.0	126.0					18																	22807425		2203	4300	6503	SO:0001583	missense	25925	exon4			ACAGCCTACTGCA	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.457A>T	chr18.hg19:g.22807425T>A	ENSP00000354794:p.Arg153Trp	143.0	0.0		119.0	62.0	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.319805	0.23994	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.30182	1.54;1.54	5.93	-6.18	0.02085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.56769	1.78	0.27090	N	0.962862	D	0.89917	1.0	D	0.91635	0.999	T	0.64132	-0.6479	10	0.87932	D	0	-27.9206	27.849	0.99998	0.0:0.0:0.884:0.1159	.	153	Q96K83	ZN521_HUMAN	W	153;187;153	ENSP00000354794:R153W;ENSP00000382352:R153W	ENSP00000354794:R153W	R	-	1	2	ZNF521	21061423	0.892000	0.30473	0.240000	0.24138	0.999000	0.98932	0.419000	0.21247	-0.847000	0.04168	0.533000	0.62120	AGG	.	.		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
TAF4B	6875	hgsc.bcm.edu	37	18	23854702	23854702	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:23854702T>C	ENST00000269142.5	+	4	1671	c.673T>C	c.(673-675)Tca>Cca	p.S225P	TAF4B_ENST00000400466.2_Missense_Mutation_p.S225P|TAF4B_ENST00000578121.1_Missense_Mutation_p.S225P	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	225					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCTGAAGCCTTCAAGTTTGGG	0.418																																					p.S225P		Atlas-SNP	.											.	TAF4B	71	.	0			c.T673C						.						158.0	151.0	153.0					18																	23854702		1891	4120	6011	SO:0001583	missense	6875	exon4			AAGCCTTCAAGTT	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.673T>C	chr18.hg19:g.23854702T>C	ENSP00000269142:p.Ser225Pro	186.0	0.0		164.0	71.0	NM_005640	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	hg19	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.404905	0.25378	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.25250	1.81;1.83;1.81	5.81	4.64	0.57946	.	0.417829	0.23912	N	0.043339	T	0.17152	0.0412	L	0.40543	1.245	0.35289	D	0.782017	B;B	0.15719	0.001;0.014	B;B	0.15484	0.001;0.013	T	0.18524	-1.0334	10	0.20046	T	0.44	-3.1267	4.1337	0.10160	0.1758:0.1123:0.0:0.7119	.	225;225	Q92750;A4PBF7	TAF4B_HUMAN;.	P	225	ENSP00000389365:S225P;ENSP00000269142:S225P;ENSP00000383314:S225P	ENSP00000269142:S225P	S	+	1	0	TAF4B	22108700	1.000000	0.71417	0.999000	0.59377	0.601000	0.36947	1.845000	0.39279	1.015000	0.39444	-0.301000	0.09380	TCA	.	.		0.418	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	
DSG3	1830	hgsc.bcm.edu	37	18	29039011	29039011	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:29039011C>A	ENST00000257189.4	+	5	471	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGTCGGGCTCTAAATGCCCA	0.348																																					p.L130I		Atlas-SNP	.											.	DSG3	172	.	0			c.C388A						.						69.0	68.0	68.0					18																	29039011		2203	4300	6503	SO:0001583	missense	1830	exon5			CGGGCTCTAAATG	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.388C>A	chr18.hg19:g.29039011C>A	ENSP00000257189:p.Leu130Ile	176.0	0.0		165.0	67.0	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	hg19	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646709	0.67358	.	.	ENSG00000134757	ENST00000257189	T	0.52526	0.66	5.39	-1.15	0.09709	Cadherin (4);Cadherin-like (1);	0.411769	0.17743	N	0.163498	T	0.50171	0.1600	M	0.72118	2.19	0.09310	N	1	D	0.56521	0.976	P	0.57283	0.817	T	0.38286	-0.9668	10	0.35671	T	0.21	.	1.574	0.02621	0.1236:0.3576:0.2423:0.2765	.	130	P32926	DSG3_HUMAN	I	130	ENSP00000257189:L130I	ENSP00000257189:L130I	L	+	1	2	DSG3	27293009	0.002000	0.14202	0.006000	0.13384	0.464000	0.32679	-0.516000	0.06282	0.048000	0.15891	-0.165000	0.13383	CTA	.	.		0.348	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
CCDC178	374864	hgsc.bcm.edu	37	18	30672732	30672732	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:30672732T>A	ENST00000383096.3	-	21	2563	c.2381A>T	c.(2380-2382)aAg>aTg	p.K794M	CCDC178_ENST00000403303.1_Missense_Mutation_p.K794M|CCDC178_ENST00000579947.1_Missense_Mutation_p.K794M|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.K756M|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.K794M|CCDC178_ENST00000406524.2_Missense_Mutation_p.K794M			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	794																	TACCTGTTTCTTATCTCTAAT	0.299																																					p.K794M		Atlas-SNP	.											.	.	.	.	0			c.A2381T						.						49.0	57.0	54.0					18																	30672732		2198	4281	6479	SO:0001583	missense	374864	exon20			TGTTTCTTATCTC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2381A>T	chr18.hg19:g.30672732T>A	ENSP00000372576:p.Lys794Met	254.0	0.0		200.0	104.0	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	hg19	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	6.211	0.407143	0.11754	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524	T;T;T;T	0.17528	2.34;2.34;2.35;2.27	5.6	5.6	0.85130	.	.	.	.	.	T	0.32882	0.0844	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.70016	0.948;0.967;0.943;0.912	T	0.03008	-1.1083	9	0.66056	D	0.02	-9.7934	14.7771	0.69738	0.0:0.0:0.0:1.0	.	794;794;756;794	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	M	794;794;756;794	ENSP00000385591:K794M;ENSP00000372576:K794M;ENSP00000300227:K756M;ENSP00000385867:K794M	ENSP00000300227:K756M	K	-	2	0	C18orf34	28926730	0.005000	0.15991	0.582000	0.28627	0.141000	0.21300	0.802000	0.27069	2.145000	0.66743	0.528000	0.53228	AAG	.	.		0.299	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
DTNA	1837	hgsc.bcm.edu	37	18	32444004	32444004	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:32444004A>T	ENST00000399113.3	+	16	1640	c.1640A>T	c.(1639-1641)gAg>gTg	p.E547V	DTNA_ENST00000444659.1_Missense_Mutation_p.E547V|DTNA_ENST00000596745.1_Missense_Mutation_p.E297V|DTNA_ENST00000556414.3_Missense_Mutation_p.E199V|DTNA_ENST00000399121.5_Missense_Mutation_p.E487V|DTNA_ENST00000598334.1_Missense_Mutation_p.E487V|DTNA_ENST00000601125.1_Missense_Mutation_p.E169V|DTNA_ENST00000269191.6_Missense_Mutation_p.E547V|DTNA_ENST00000598774.1_Missense_Mutation_p.E490V|DTNA_ENST00000599844.1_3'UTR|DTNA_ENST00000269192.7_Missense_Mutation_p.E256V|DTNA_ENST00000597599.1_Missense_Mutation_p.E487V|DTNA_ENST00000283365.9_Missense_Mutation_p.E490V|DTNA_ENST00000269190.7_Missense_Mutation_p.E548V|DTNA_ENST00000595022.1_Missense_Mutation_p.E487V|DTNA_ENST00000399097.3_Missense_Mutation_p.E195V|DTNA_ENST00000598142.1_Missense_Mutation_p.E490V|DTNA_ENST00000597674.1_Missense_Mutation_p.E169V|DTNA_ENST00000591182.1_Missense_Mutation_p.E195V|DTNA_ENST00000348997.5_Missense_Mutation_p.E544V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	547					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTCCAGTTGGAGGGTCTCATG	0.443																																					p.E547V		Atlas-SNP	.											.	DTNA	321	.	0			c.A1640T						.						75.0	77.0	77.0					18																	32444004		2203	4299	6502	SO:0001583	missense	1837	exon16			AGTTGGAGGGTCT	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1640A>T	chr18.hg19:g.32444004A>T	ENSP00000382064:p.Glu547Val	35.0	0.0		35.0	19.0	NM_001390	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	hg19	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.956498	0.92726	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.22539	1.96;1.95;2.02;1.95;2.02;1.95	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.994;0.998;0.999;0.999;0.998;1.0;0.997;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.983;0.981;0.997;0.994;0.987;0.996;0.995;0.994;0.994;0.994;0.994;0.994	T	0.50849	-0.8779	10	0.87932	D	0	-18.4609	16.2453	0.82441	1.0:0.0:0.0:0.0	.	199;256;237;297;547;547;487;490;195;544;487;498;490;490	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	V	490;490;487;548;195;544;547;547;547;547;256;195;199	ENSP00000283365:E490V;ENSP00000269190:E548V;ENSP00000336682:E544V;ENSP00000405819:E547V;ENSP00000269191:E547V;ENSP00000382064:E547V	ENSP00000269190:E548V	E	+	2	0	DTNA	30698002	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	9.328000	0.96403	2.241000	0.73720	0.533000	0.62120	GAG	.	.		0.443	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390	
RIT2	6014	hgsc.bcm.edu	37	18	40554045	40554045	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:40554045A>T	ENST00000326695.5	-	3	399	c.228T>A	c.(226-228)gcT>gcA	p.A76A	RIT2_ENST00000282028.4_Silent_p.A76A|RIT2_ENST00000589109.1_Silent_p.A76A|RIT2_ENST00000590910.1_Silent_p.A76A	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	76				A -> D (in Ref. 1; AAB42214). {ECO:0000305}.	neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTACCTGGCCAGCAGTGTCCA	0.363																																					p.A76A		Atlas-SNP	.											.	RIT2	56	.	0			c.T228A						.						75.0	65.0	68.0					18																	40554045		2203	4300	6503	SO:0001819	synonymous_variant	6014	exon3			CTGGCCAGCAGTG	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.228T>A	chr18.hg19:g.40554045A>T		296.0	1.0		252.0	134.0	NM_001272077	B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	hg19	CCDS11921.1																																																																																			.	.		0.363	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930	
HAUS1	115106	hgsc.bcm.edu	37	18	43703286	43703286	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:43703286A>G	ENST00000282058.6	+	6	702	c.622A>G	c.(622-624)Atg>Gtg	p.M208V	HAUS1_ENST00000588704.1_3'UTR|RNU6-1278P_ENST00000516130.1_RNA|HAUS1_ENST00000585518.1_Missense_Mutation_p.H76R	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	208					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGCCAGAGGCATGGATGCTTC	0.338																																					p.M208V	NSCLC(79;183 1423 5813 15597 38427)	Atlas-SNP	.											.	HAUS1	22	.	0			c.A622G						.						97.0	104.0	102.0					18																	43703286		2203	4300	6503	SO:0001583	missense	115106	exon6			AGAGGCATGGATG	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.622A>G	chr18.hg19:g.43703286A>G	ENSP00000282058:p.Met208Val	258.0	0.0		190.0	82.0	NM_138443	B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	hg19	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.925668	0.34002	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.28	4.1	0.47936	.	0.124345	0.64402	D	0.000001	T	0.56499	0.1989	M	0.74258	2.255	0.38240	D	0.941305	B	0.15930	0.015	B	0.10450	0.005	T	0.53365	-0.8449	9	0.24483	T	0.36	4.9293	6.3455	0.21347	0.6765:0.1652:0.0:0.1583	.	208	Q96CS2	HAUS1_HUMAN	V	208	.	ENSP00000282058:M208V	M	+	1	0	HAUS1	41957284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.914000	0.48797	0.925000	0.37094	0.460000	0.39030	ATG	.	.		0.338	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443	
KATNAL2	83473	hgsc.bcm.edu	37	18	44589401	44589401	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:44589401A>T	ENST00000245121.5	+	6	586	c.392A>T	c.(391-393)gAa>gTa	p.E131V	KATNAL2_ENST00000356157.7_Missense_Mutation_p.E203V|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCAACCAGTGAACTTGCCTTG	0.458																																					p.E131V		Atlas-SNP	.											.	KATNAL2	64	.	0			c.A392T						.						143.0	126.0	132.0					18																	44589401		2203	4300	6503	SO:0001583	missense	83473	exon6			CCAGTGAACTTGC	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.392A>T	chr18.hg19:g.44589401A>T	ENSP00000245121:p.Glu131Val	62.0	0.0		56.0	22.0	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	hg19	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808556	0.50421	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.94497	-3.44;-3.44	6.01	6.01	0.97437	.	0.278041	0.39544	N	0.001338	D	0.91603	0.7347	L	0.29908	0.895	0.39865	D	0.973438	P	0.48503	0.911	P	0.48270	0.572	D	0.91325	0.5085	10	0.44086	T	0.13	-14.9125	9.954	0.41655	0.9179:0.0:0.0821:0.0	.	203	Q8IYT4	KATL2_HUMAN	V	203;131	ENSP00000348478:E203V;ENSP00000245121:E131V	ENSP00000245121:E131V	E	+	2	0	KATNAL2	42843399	1.000000	0.71417	0.077000	0.20336	0.112000	0.19704	5.171000	0.64996	2.307000	0.77673	0.528000	0.53228	GAA	.	.		0.458	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
ATP8B1	5205	hgsc.bcm.edu	37	18	55338765	55338765	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:55338765T>G	ENST00000283684.4	-	16	1866	c.1867A>C	c.(1867-1869)Act>Cct	p.T623P	ATP8B1_ENST00000536015.1_Missense_Mutation_p.T623P|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	623					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAAATAACAGTGTCAGCACCT	0.348																																					p.T623P		Atlas-SNP	.											.	ATP8B1	126	.	0			c.A1867C						.						172.0	148.0	156.0					18																	55338765		2203	4300	6503	SO:0001583	missense	5205	exon17			TAACAGTGTCAGC	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1867A>C	chr18.hg19:g.55338765T>G	ENSP00000283684:p.Thr623Pro	154.0	0.0		130.0	54.0	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	hg19	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409808	0.83340	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70045	-0.45;-0.45	6.02	6.02	0.97574	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87795	0.6267	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91482	0.5205	10	0.87932	D	0	.	16.2061	0.82131	0.0:0.0:0.0:1.0	.	623	O43520	AT8B1_HUMAN	P	623	ENSP00000283684:T623P;ENSP00000445359:T623P	ENSP00000283684:T623P	T	-	1	0	ATP8B1	53489763	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.018000	0.88722	2.311000	0.77944	0.533000	0.62120	ACT	.	.		0.348	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
RAX	30062	hgsc.bcm.edu	37	18	56936364	56936364	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:56936364A>T	ENST00000334889.3	-	3	1099	c.913T>A	c.(913-915)Tgc>Agc	p.C305S	RAX_ENST00000256852.7_3'UTR	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	305					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CCGGGCCCGCACGGGTAGGAG	0.731																																					p.C305S	GBM(150;770 1898 17679 24325 37807)	Atlas-SNP	.											.	RAX	19	.	0			c.T913A						.						6.0	8.0	7.0					18																	56936364		2046	4100	6146	SO:0001583	missense	30062	exon3			GCCCGCACGGGTA	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.913T>A	chr18.hg19:g.56936364A>T	ENSP00000334813:p.Cys305Ser	51.0	0.0		42.0	15.0	NM_013435	Q86V11	Missense_Mutation	SNP	ENST00000334889.3	hg19	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.987880	0.93106	.	.	ENSG00000134438	ENST00000334889	D	0.88818	-2.43	3.98	3.98	0.46160	.	0.099413	0.64402	D	0.000001	D	0.92672	0.7671	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.90698	0.4618	10	0.21540	T	0.41	.	11.8646	0.52486	1.0:0.0:0.0:0.0	.	305	Q9Y2V3	RX_HUMAN	S	305	ENSP00000334813:C305S	ENSP00000334813:C305S	C	-	1	0	RAX	55087344	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	6.695000	0.74593	1.439000	0.47511	0.454000	0.30748	TGC	.	.		0.731	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2		
CCBE1	147372	hgsc.bcm.edu	37	18	57122130	57122130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:57122130T>A	ENST00000439986.4	-	6	644	c.607A>T	c.(607-609)Aag>Tag	p.K203*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	203					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TAGAACTCCTTGCATGTGGCA	0.557																																					p.K203X	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	Atlas-SNP	.											.	CCBE1	59	.	0			c.A607T						.						156.0	112.0	127.0					18																	57122130		2203	4300	6503	SO:0001587	stop_gained	147372	exon6			ACTCCTTGCATGT	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.607A>T	chr18.hg19:g.57122130T>A	ENSP00000404464:p.Lys203*	76.0	0.0		64.0	27.0	NM_133459	Q6MZX5|Q86SS2|Q8TF19	Nonsense_Mutation	SNP	ENST00000439986.4	hg19	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	T	36	5.885371	0.97068	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.48	5.48	0.80851	.	0.145275	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1422	14.567	0.68185	0.0:0.0:0.0:1.0	.	.	.	.	X	203	.	ENSP00000404464:K203X	K	-	1	0	CCBE1	55273110	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.166000	0.58203	2.059000	0.61396	0.459000	0.35465	AAG	.	.		0.557	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
CDH20	28316	hgsc.bcm.edu	37	18	59166656	59166656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:59166656G>T	ENST00000262717.4	+	3	882	c.484G>T	c.(484-486)Gag>Tag	p.E162*	CDH20_ENST00000538374.1_Nonsense_Mutation_p.E162*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.E162*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	162	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAATGACAATGAGCCCAAGTT	0.512																																					p.E162X		Atlas-SNP	.											.	CDH20	117	.	0			c.G484T						.						73.0	75.0	74.0					18																	59166656		2203	4300	6503	SO:0001587	stop_gained	28316	exon2			GACAATGAGCCCA	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.484G>T	chr18.hg19:g.59166656G>T	ENSP00000262717:p.Glu162*	114.0	0.0		101.0	54.0	NM_031891	Q495S3	Nonsense_Mutation	SNP	ENST00000262717.4	hg19	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	41	9.016063	0.99037	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	6.06	6.06	0.98353	.	0.117279	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	162	.	ENSP00000262717:E162X	E	+	1	0	CDH20	57317636	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.881000	0.87252	2.880000	0.98712	0.650000	0.86243	GAG	.	.		0.512	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
SERPINB2	5055	hgsc.bcm.edu	37	18	61562574	61562574	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:61562574T>C	ENST00000299502.4	+	3	325	c.245T>C	c.(244-246)aTg>aCg	p.M82T	SERPINB2_ENST00000457692.1_Missense_Mutation_p.M82T|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	82					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TGTGGGTTCATGCAGCAGATC	0.433																																					p.M82T		Atlas-SNP	.											.	SERPINB2	63	.	0			c.T245C						.						189.0	185.0	186.0					18																	61562574		2203	4300	6503	SO:0001583	missense	5055	exon3			GGTTCATGCAGCA	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.245T>C	chr18.hg19:g.61562574T>C	ENSP00000299502:p.Met82Thr	69.0	0.0		75.0	24.0	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	hg19	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	T	4.329	0.060439	0.08339	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;T	0.83591	-1.57;-1.74;-1.74;-1.55;-1.07	5.93	-7.49	0.01355	Serpin domain (3);	433.424000	0.00654	U	0.000566	T	0.69196	0.3084	L	0.41027	1.25	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57148	-0.7861	10	0.12766	T	0.61	.	3.3198	0.07047	0.1155:0.4126:0.2358:0.2361	.	82	P05120	PAI2_HUMAN	T	82	ENSP00000385397:M82T;ENSP00000299502:M82T;ENSP00000401645:M82T;ENSP00000402386:M82T;ENSP00000397096:M82T	ENSP00000299502:M82T	M	+	2	0	SERPINB2	59713554	0.000000	0.05858	0.001000	0.08648	0.234000	0.25298	-2.068000	0.01382	-1.714000	0.01390	-0.408000	0.06270	ATG	.	.		0.433	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
DSEL	92126	hgsc.bcm.edu	37	18	65180193	65180193	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:65180193A>G	ENST00000310045.7	-	2	3156	c.1683T>C	c.(1681-1683)ttT>ttC	p.F561F	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	551					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCCCACTCACAAATACCATTT	0.468																																					p.F561F		Atlas-SNP	.											.	DSEL	196	.	0			c.T1683C						.						90.0	83.0	85.0					18																	65180193		2203	4300	6503	SO:0001819	synonymous_variant	92126	exon2			ACTCACAAATACC	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1683T>C	chr18.hg19:g.65180193A>G		105.0	0.0		109.0	44.0	NM_032160	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	hg19	CCDS11995.1																																																																																			.	.		0.468	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
CCDC102B	79839	hgsc.bcm.edu	37	18	66678301	66678301	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:66678301T>C	ENST00000360242.5	+	7	1511	c.1394T>C	c.(1393-1395)gTg>gCg	p.V465A	CCDC102B_ENST00000584156.1_Missense_Mutation_p.V465A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.V465A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	465										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AGATTACGAGTGGAAGAACTA	0.373																																					p.V465A		Atlas-SNP	.											.	CCDC102B	92	.	0			c.T1394C						.						111.0	106.0	108.0					18																	66678301		2203	4300	6503	SO:0001583	missense	79839	exon9			TACGAGTGGAAGA	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1394T>C	chr18.hg19:g.66678301T>C	ENSP00000353377:p.Val465Ala	159.0	0.0		135.0	50.0	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	hg19	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	T	9.891	1.204337	0.22205	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.25912	1.77;1.77	5.29	5.29	0.74685	.	0.171467	0.27691	N	0.018247	T	0.42426	0.1202	M	0.71036	2.16	0.80722	D	1	D	0.55385	0.971	P	0.55615	0.78	T	0.37753	-0.9692	10	0.59425	D	0.04	-5.1028	11.6135	0.51074	0.0:0.0:0.0:1.0	.	465	Q68D86	C102B_HUMAN	A	465	ENSP00000316237:V465A;ENSP00000353377:V465A	ENSP00000316237:V465A	V	+	2	0	CCDC102B	64829281	1.000000	0.71417	0.846000	0.33378	0.276000	0.26787	5.958000	0.70330	1.994000	0.58287	0.533000	0.62120	GTG	.	.		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
FAM69C	125704	hgsc.bcm.edu	37	18	72114218	72114218	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr18:72114218T>A	ENST00000343998.6	-	2	507	c.499A>T	c.(499-501)Agc>Tgc	p.S167C	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	167						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GGCCCCAGGCTGCTGTTGGAC	0.701																																					p.S167C		Atlas-SNP	.											.	FAM69C	45	.	0			c.A499T						.						2.0	4.0	3.0					18																	72114218		578	1428	2006	SO:0001583	missense	125704	exon2			CCAGGCTGCTGTT	BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.499A>T	chr18.hg19:g.72114218T>A	ENSP00000344331:p.Ser167Cys	60.0	0.0		61.0	32.0	NM_001044369		Missense_Mutation	SNP	ENST00000343998.6	hg19	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386954	0.42308	.	.	ENSG00000187773	ENST00000343998	.	.	.	3.59	1.04	0.20106	.	0.377645	0.28482	N	0.015200	T	0.47116	0.1428	L	0.38175	1.15	0.38321	D	0.943539	D	0.65815	0.995	P	0.52672	0.706	T	0.46414	-0.9193	9	0.54805	T	0.06	-5.4831	5.8663	0.18777	0.0:0.0942:0.1658:0.74	.	167	Q0P6D2	FA69C_HUMAN	C	167	.	ENSP00000344331:S167C	S	-	1	0	FAM69C	70265198	0.828000	0.29307	0.874000	0.34290	0.442000	0.32017	0.693000	0.25497	0.091000	0.17302	0.402000	0.26972	AGC	.	.		0.701	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931	
THEG	51298	hgsc.bcm.edu	37	19	362299	362299	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:362299G>A	ENST00000342640.4	-	8	1083	c.1041C>T	c.(1039-1041)ggC>ggT	p.G347G	THEG_ENST00000346878.2_Silent_p.G323G	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	347					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTTGAGGCCCTTGCGCA	0.602																																					p.G347G		Atlas-SNP	.											.	THEG	58	.	0			c.C1041T						.						153.0	150.0	151.0					19																	362299		2203	4300	6503	SO:0001819	synonymous_variant	51298	exon8			GTTGAGGCCCTTG	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1041C>T	chr19.hg19:g.362299G>A		96.0	0.0		54.0	21.0	NM_016585	A6NMJ8	Silent	SNP	ENST00000342640.4	hg19	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	2.420	-0.333431	0.05278	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.98	0.308	0.15815	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38802	-0.9644	5	0.87932	D	0	-10.5385	5.0232	0.14372	0.129:0.4317:0.4393:0.0	.	.	.	.	V	125	.	ENSP00000431699:A125V	A	-	2	0	THEG	313299	0.001000	0.12720	0.010000	0.14722	0.059000	0.15707	0.247000	0.18179	0.315000	0.23110	-0.230000	0.12252	GCC	.	.		0.602	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
MISP	126353	hgsc.bcm.edu	37	19	758534	758534	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:758534G>T	ENST00000215582.6	+	2	1691	c.1588G>T	c.(1588-1590)Gtg>Ttg	p.V530L		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	530					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGGCTGGGAGGTGGCTGGGGC	0.667																																					p.V530L		Atlas-SNP	.											.	C19orf21	56	.	0			c.G1588T						.						31.0	38.0	35.0					19																	758534		2201	4298	6499	SO:0001583	missense	126353	exon2			TGGGAGGTGGCTG	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1588G>T	chr19.hg19:g.758534G>T	ENSP00000215582:p.Val530Leu	86.0	0.0		77.0	33.0	NM_173481		Missense_Mutation	SNP	ENST00000215582.6	hg19	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	9.589	1.125617	0.20959	.	.	ENSG00000099812	ENST00000215582	T	0.33216	1.42	3.24	2.15	0.27550	.	0.954746	0.08645	N	0.914884	T	0.22898	0.0553	L	0.60455	1.87	0.09310	N	1	P	0.46512	0.879	B	0.38755	0.281	T	0.12167	-1.0558	10	0.09590	T	0.72	-9.8294	4.0192	0.09657	0.1415:0.2549:0.6036:0.0	.	530	Q8IVT2	CS021_HUMAN	L	530	ENSP00000215582:V530L	ENSP00000215582:V530L	V	+	1	0	C19orf21	709534	0.013000	0.17824	0.015000	0.15790	0.004000	0.04260	0.419000	0.21247	0.879000	0.35944	0.561000	0.74099	GTG	.	.		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
MISP	126353	hgsc.bcm.edu	37	19	758601	758601	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:758601A>T	ENST00000215582.6	+	2	1758	c.1655A>T	c.(1654-1656)gAg>gTg	p.E552V		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	552					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGGAGAGGGAGAGTGTCCTG	0.617																																					p.E552V		Atlas-SNP	.											.	C19orf21	56	.	0			c.A1655T						.						50.0	57.0	54.0					19																	758601		2203	4300	6503	SO:0001583	missense	126353	exon2			AGAGGGAGAGTGT	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1655A>T	chr19.hg19:g.758601A>T	ENSP00000215582:p.Glu552Val	153.0	0.0		129.0	58.0	NM_173481		Missense_Mutation	SNP	ENST00000215582.6	hg19	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222775	0.39300	.	.	ENSG00000099812	ENST00000215582	T	0.34859	1.34	3.69	1.35	0.21983	.	0.452377	0.19429	N	0.114487	T	0.29028	0.0721	M	0.62723	1.935	0.25105	N	0.990754	B	0.32968	0.392	B	0.28638	0.092	T	0.20605	-1.0270	10	0.62326	D	0.03	-17.6222	5.0176	0.14345	0.4799:0.4061:0.1141:0.0	.	552	Q8IVT2	CS021_HUMAN	V	552	ENSP00000215582:E552V	ENSP00000215582:E552V	E	+	2	0	C19orf21	709601	0.998000	0.40836	0.719000	0.30619	0.316000	0.28119	1.410000	0.34691	0.060000	0.16281	0.459000	0.35465	GAG	.	.		0.617	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
APC2	10297	hgsc.bcm.edu	37	19	1460853	1460853	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:1460853C>G	ENST00000535453.1	+	11	3231	c.1518C>G	c.(1516-1518)caC>caG	p.H506Q	APC2_ENST00000233607.2_Missense_Mutation_p.H506Q|APC2_ENST00000238483.4_Missense_Mutation_p.H232Q|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCTCCACCAGGTACAGG	0.701																																					p.H506Q		Atlas-SNP	.											APC2,NS,malignant_melanoma,0,1	APC2	50	.	0			c.C1518G						.						23.0	27.0	26.0					19																	1460853		2200	4293	6493	SO:0001583	missense	10297	exon12			GCTCCACCAGGTA		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1518C>G	chr19.hg19:g.1460853C>G	ENSP00000442954:p.His506Gln	109.0	0.0		81.0	11.0	NM_005883	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	hg19	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	5.077	0.199913	0.09652	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.62498	0.02;1.04;0.02	4.07	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.063724	0.64402	D	0.000007	T	0.43100	0.1232	N	0.01576	-0.805	0.35386	D	0.79032	D;D	0.65815	0.96;0.995	D;D	0.70487	0.944;0.969	T	0.52909	-0.8512	10	0.06236	T	0.91	-39.0196	6.0903	0.19991	0.0:0.6978:0.1923:0.1099	.	505;506	O95996-3;O95996	.;APC2_HUMAN	Q	506;232;506	ENSP00000233607:H506Q;ENSP00000238483:H232Q;ENSP00000442954:H506Q	ENSP00000233607:H506Q	H	+	3	2	APC2	1411853	0.994000	0.37717	1.000000	0.80357	0.684000	0.39900	0.132000	0.15891	0.897000	0.36392	0.563000	0.77884	CAC	.	.		0.701	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
MAP2K2	5605	hgsc.bcm.edu	37	19	4117490	4117490	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4117490T>C	ENST00000262948.5	-	2	483	c.230A>G	c.(229-231)gAg>gGg	p.E77G	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	CGCGCCCAGCTCTGAGATCCT	0.612																																					p.E77G		Atlas-SNP	.											.	MAP2K2	72	.	0			c.A230G						.						73.0	68.0	69.0					19																	4117490		2203	4300	6503	SO:0001583	missense	5605	exon2			CCCAGCTCTGAGA	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.230A>G	chr19.hg19:g.4117490T>C	ENSP00000262948:p.Glu77Gly	70.0	0.0		55.0	16.0	NM_030662		Missense_Mutation	SNP	ENST00000262948.5	hg19	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	t	22.0	4.229875	0.79688	.	.	ENSG00000126934	ENST00000262948	D	0.93659	-3.26	4.67	3.65	0.41850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95150	0.8272	10	0.87932	D	0	-33.5457	8.6127	0.33813	0.0:0.0931:0.0:0.9069	.	77	P36507	MP2K2_HUMAN	G	77	ENSP00000262948:E77G	ENSP00000262948:E77G	E	-	2	0	MAP2K2	4068490	1.000000	0.71417	0.974000	0.42286	0.849000	0.48306	7.892000	0.87324	1.738000	0.51689	0.454000	0.30748	GAG	.	.		0.612	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2		
SIRT6	51548	hgsc.bcm.edu	37	19	4175099	4175099	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4175099T>A	ENST00000337491.2	-	7	728	c.664A>T	c.(664-666)Agc>Tgc	p.S222C	SIRT6_ENST00000381935.3_Missense_Mutation_p.S150C|SIRT6_ENST00000594279.1_Silent_p.P136P|SIRT6_ENST00000305232.6_Missense_Mutation_p.S195C|SIRT6_ENST00000601488.1_Silent_p.P147P	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	222	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTCCCGCTGGGCCGGATC	0.682																																					p.S222C		Atlas-SNP	.											.	SIRT6	16	.	0			c.A664T						.						22.0	20.0	21.0					19																	4175099		2194	4282	6476	SO:0001583	missense	51548	exon7			TCCCGCTGGGCCG	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.664A>T	chr19.hg19:g.4175099T>A	ENSP00000337332:p.Ser222Cys	58.0	0.0		35.0	19.0	NM_016539	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	hg19	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698439	0.48307	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.17370	2.28;2.28;2.28	4.49	4.49	0.54785	.	0.041854	0.85682	D	0.000000	T	0.26085	0.0636	L	0.50993	1.605	0.58432	D	0.999992	B;P	0.36599	0.389;0.56	B;P	0.47075	0.359;0.536	T	0.02698	-1.1122	10	0.54805	T	0.06	-29.4814	12.5915	0.56445	0.0:0.0:0.0:1.0	.	195;222	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	C	222;195;150	ENSP00000337332:S222C;ENSP00000305310:S195C;ENSP00000371360:S150C	ENSP00000305310:S195C	S	-	1	0	SIRT6	4126099	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	4.333000	0.59285	1.652000	0.50683	0.379000	0.24179	AGC	.	.		0.682	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2		
ANKRD24	170961	hgsc.bcm.edu	37	19	4207906	4207906	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4207906G>A	ENST00000600132.1	+	10	1049	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ANKRD24_ENST00000318934.4_Missense_Mutation_p.G258E|RN7SL84P_ENST00000578969.1_RNA|ANKRD24_ENST00000262970.5_Missense_Mutation_p.G348E	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	258										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCTGGCGGGGGACAAACTC	0.677											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G258E		Atlas-SNP	.											.	ANKRD24	180	.	0			c.G773A						.						13.0	17.0	16.0					19																	4207906		1956	4134	6090	SO:0001583	missense	170961	exon10			TGGCGGGGGACAA	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.773G>A	chr19.hg19:g.4207906G>A	ENSP00000471252:p.Gly258Glu	88.0	0.0	617	82.0	38.0	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	hg19	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676017	0.47886	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.34859	1.34;1.34	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.000000	0.34386	N	0.004017	T	0.52338	0.1728	L	0.45581	1.43	0.50313	D	0.999867	D;P	0.89917	1.0;0.664	D;P	0.91635	0.999;0.876	T	0.53781	-0.8390	10	0.66056	D	0.02	-51.6963	13.5487	0.61719	0.0:0.0:1.0:0.0	.	258;348	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	E	258;348	ENSP00000321731:G258E;ENSP00000262970:G348E	ENSP00000262970:G348E	G	+	2	0	ANKRD24	4158906	1.000000	0.71417	0.978000	0.43139	0.621000	0.37620	6.349000	0.73013	2.266000	0.75297	0.462000	0.41574	GGG	.	.		0.677	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
CCDC94	55702	hgsc.bcm.edu	37	19	4249223	4249223	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4249223A>G	ENST00000262962.7	+	2	92		c.e2-1			NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94											NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCCCCTGCAGAAATACTAC	0.587																																					.		Atlas-SNP	.											.	CCDC94	28	.	0			c.25-2A>G						.						59.0	48.0	51.0					19																	4249223		2203	4300	6503	SO:0001630	splice_region_variant	55702	exon2			CCCTGCAGAAATA	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.25-1A>G	chr19.hg19:g.4249223A>G		86.0	0.0		72.0	34.0	NM_018074	O75270|Q9H862|Q9NW16	Splice_Site	SNP	ENST00000262962.7	hg19	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305640	0.60305	.	.	ENSG00000105248	ENST00000262962	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1594	0.65436	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC94	4200223	1.000000	0.71417	0.985000	0.45067	0.644000	0.38419	7.061000	0.76699	2.076000	0.62316	0.528000	0.53228	.	.	.		0.587	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074	Intron
STAP2	55620	hgsc.bcm.edu	37	19	4333984	4333984	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4333984T>A	ENST00000594605.1	-	2	283	c.160A>T	c.(160-162)Aat>Tat	p.N54Y	STAP2_ENST00000600324.1_Missense_Mutation_p.N54Y	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	54	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCCGATTGCTATTGTAG	0.527																																					p.N54Y		Atlas-SNP	.											.	STAP2	38	.	0			c.A160T						.						65.0	66.0	66.0					19																	4333984		2203	4300	6503	SO:0001583	missense	55620	exon2			CCCGATTGCTATT	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.160A>T	chr19.hg19:g.4333984T>A	ENSP00000471052:p.Asn54Tyr	65.0	0.0		68.0	37.0	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	hg19	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278640	0.59758	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.05	5.05	0.67936	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.411506	0.25538	N	0.029993	T	0.54127	0.1839	L	0.57536	1.79	0.28246	N	0.925476	P;D	0.58620	0.873;0.983	P;P	0.58331	0.46;0.837	T	0.54091	-0.8345	9	0.87932	D	0	-3.9828	11.2648	0.49104	0.0:0.0:0.0:1.0	.	54;54	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	Y	54	.	ENSP00000317912:N54Y	N	-	1	0	STAP2	4284984	0.352000	0.24895	0.949000	0.38748	0.532000	0.34746	1.738000	0.38207	1.921000	0.55644	0.510000	0.49958	AAT	.	.		0.527	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	
ARRDC5	645432	hgsc.bcm.edu	37	19	4902726	4902726	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:4902726G>T	ENST00000381781.2	-	1	153	c.154C>A	c.(154-156)Ccc>Acc	p.P52T	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	52										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCACTATGGGGTCCACCAGG	0.507																																					p.P52T		Atlas-SNP	.											.	ARRDC5	19	.	0			c.C154A						.						150.0	138.0	142.0					19																	4902726		1894	4121	6015	SO:0001583	missense	645432	exon1			CTATGGGGTCCAC		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.154C>A	chr19.hg19:g.4902726G>T	ENSP00000371200:p.Pro52Thr	139.0	0.0		120.0	62.0	NM_001080523		Missense_Mutation	SNP	ENST00000381781.2	hg19	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920626	0.73213	.	.	ENSG00000205784	ENST00000381781	T	0.12672	2.66	5.37	5.37	0.77165	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.47093	D	0.000253	T	0.27933	0.0688	L	0.41236	1.265	0.40766	D	0.983044	D	0.89917	1.0	D	0.97110	1.0	T	0.00382	-1.1775	10	0.36615	T	0.2	-38.8905	14.4683	0.67499	0.0:0.0:1.0:0.0	.	52	A6NEK1	ARRD5_HUMAN	T	52	ENSP00000371200:P52T	ENSP00000371200:P52T	P	-	1	0	ARRDC5	4853726	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.859000	0.62954	2.796000	0.96246	0.650000	0.86243	CCC	.	.		0.507	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803	
ZNRF4	148066	hgsc.bcm.edu	37	19	5456001	5456001	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:5456001A>T	ENST00000222033.4	+	1	576	c.499A>T	c.(499-501)Acc>Tcc	p.T167S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	167	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTACGACTGCACCTTCGACCT	0.662																																					p.T167S		Atlas-SNP	.											.	ZNRF4	59	.	0			c.A499T						.						38.0	40.0	39.0					19																	5456001		2147	4244	6391	SO:0001583	missense	148066	exon1			GACTGCACCTTCG	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.499A>T	chr19.hg19:g.5456001A>T	ENSP00000222033:p.Thr167Ser	14.0	0.0		13.0	9.0	NM_181710	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	A	7.017	0.557858	0.13436	.	.	ENSG00000105428	ENST00000222033	T	0.06528	3.29	4.65	1.19	0.21007	Protease-associated domain, PA (1);	0.126722	0.49916	N	0.000130	T	0.03434	0.0099	L	0.28740	0.885	0.21675	N	0.999599	B	0.30179	0.271	B	0.27380	0.079	T	0.39840	-0.9594	10	0.23891	T	0.37	-12.3359	1.0194	0.01514	0.414:0.1595:0.0957:0.3308	.	167	Q8WWF5	ZNRF4_HUMAN	S	167	ENSP00000222033:T167S	ENSP00000222033:T167S	T	+	1	0	ZNRF4	5407001	0.024000	0.19004	0.064000	0.19789	0.253000	0.25986	0.140000	0.16056	-0.133000	0.11537	-0.669000	0.03829	ACC	.	.		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
RANBP3	8498	hgsc.bcm.edu	37	19	5918611	5918611	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:5918611T>A	ENST00000340578.6	-	15	1426	c.1369A>T	c.(1369-1371)Acc>Tcc	p.T457S	RANBP3_ENST00000034275.8_Missense_Mutation_p.T389S|RANBP3_ENST00000541471.1_Missense_Mutation_p.T329S|RANBP3_ENST00000591092.1_Missense_Mutation_p.T384S|RANBP3_ENST00000439268.2_Missense_Mutation_p.T452S	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	457	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CACAGCTTGGTGTTGAGGATC	0.612																																					p.T457S		Atlas-SNP	.											.	RANBP3	36	.	0			c.A1369T						.						136.0	153.0	148.0					19																	5918611		2135	4237	6372	SO:0001583	missense	8498	exon15			GCTTGGTGTTGAG	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1369A>T	chr19.hg19:g.5918611T>A	ENSP00000341483:p.Thr457Ser	118.0	0.0		96.0	49.0	NM_007322	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166370	0.78339	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000541471	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.98	4.98	0.66077	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.27944	0.81	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.999;0.998;0.998;0.999	T	0.33059	-0.9883	10	0.17369	T	0.5	-31.6078	12.635	0.56679	0.0:0.0:0.0:1.0	.	329;452;329;384;389;452;457	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	S	457;452;389;329	ENSP00000341483:T457S;ENSP00000404837:T452S;ENSP00000034275:T389S;ENSP00000445071:T329S	ENSP00000034275:T389S	T	-	1	0	RANBP3	5869611	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.600000	0.82769	1.859000	0.53934	0.459000	0.35465	ACC	.	.		0.612	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322	
DENND1C	79958	hgsc.bcm.edu	37	19	6478804	6478804	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:6478804G>A	ENST00000381480.2	-	6	468	c.356C>T	c.(355-357)gCc>gTc	p.A119V	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.A75V	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	119	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TTGGTCCTGGGCTAGGAGGTC	0.597																																					p.A119V		Atlas-SNP	.											.	DENND1C	93	.	0			c.C356T						.						60.0	69.0	66.0					19																	6478804		2017	4162	6179	SO:0001583	missense	79958	exon6			TCCTGGGCTAGGA	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.356C>T	chr19.hg19:g.6478804G>A	ENSP00000370889:p.Ala119Val	179.0	0.0		119.0	51.0	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	hg19	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636240	0.29068	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.76;2.76	4.98	4.98	0.66077	DENN (3);	0.179445	0.48286	D	0.000199	T	0.12092	0.0294	L	0.46819	1.47	0.30962	N	0.723577	B	0.29188	0.236	B	0.30401	0.115	T	0.05289	-1.0894	10	0.21014	T	0.42	-12.8762	15.7122	0.77641	0.0:0.0:1.0:0.0	.	119	Q8IV53	DEN1C_HUMAN	V	119;75	ENSP00000370889:A119V;ENSP00000437805:A75V	ENSP00000370889:A119V	A	-	2	0	DENND1C	6429804	0.995000	0.38212	0.913000	0.36048	0.086000	0.17979	3.513000	0.53414	2.313000	0.78055	0.313000	0.20887	GCC	.	.		0.597	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
C3	718	hgsc.bcm.edu	37	19	6710810	6710810	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:6710810T>C	ENST00000245907.6	-	13	1618	c.1526A>G	c.(1525-1527)gAg>gGg	p.E509G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	509					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGGCCGGGCTCTCGCACCTG	0.662																																					p.E509G		Atlas-SNP	.											.	C3	192	.	0			c.A1526G						.						50.0	51.0	51.0					19																	6710810		2203	4300	6503	SO:0001583	missense	718	exon13			CCGGGCTCTCGCA	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1526A>G	chr19.hg19:g.6710810T>C	ENSP00000245907:p.Glu509Gly	85.0	0.0		100.0	44.0	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	hg19	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	T	7.936	0.741733	0.15642	.	.	ENSG00000125730	ENST00000245907	T	0.66280	-0.2	5.17	4.15	0.48705	Alpha-2-macroglobulin, N-terminal 2 (1);	0.613743	0.17905	N	0.158071	T	0.40322	0.1112	N	0.17901	0.54	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.18650	-1.0330	10	0.27082	T	0.32	.	2.311	0.04186	0.1528:0.0858:0.1585:0.6028	.	509	P01024	CO3_HUMAN	G	509	ENSP00000245907:E509G	ENSP00000245907:E509G	E	-	2	0	C3	6661810	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.047000	0.14056	0.823000	0.34589	0.533000	0.62120	GAG	.	.		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
FBN3	84467	hgsc.bcm.edu	37	19	8175948	8175948	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:8175948A>T	ENST00000600128.1	-	33	4618	c.4204T>A	c.(4204-4206)Tgc>Agc	p.C1402S	FBN3_ENST00000601739.1_Missense_Mutation_p.C1402S|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402S			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTACCCTGGCAGGCCCGGTGG	0.667																																					p.C1402S		Atlas-SNP	.											.	FBN3	300	.	0			c.T4204A						.						54.0	52.0	53.0					19																	8175948		2203	4300	6503	SO:0001583	missense	84467	exon32			CCTGGCAGGCCCG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4204T>A	chr19.hg19:g.8175948A>T	ENSP00000470498:p.Cys1402Ser	63.0	0.0		50.0	17.0	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	hg19	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203206	0.58234	.	.	ENSG00000142449	ENST00000270509	D	0.99429	-5.89	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99560	0.9842	M	0.92970	3.365	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98231	1.0483	10	0.59425	D	0.04	.	12.5776	0.56373	1.0:0.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	S	1402	ENSP00000270509:C1402S	ENSP00000270509:C1402S	C	-	1	0	FBN3	8081948	1.000000	0.71417	0.983000	0.44433	0.128000	0.20619	8.443000	0.90320	1.434000	0.47414	0.379000	0.24179	TGC	.	.		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	hgsc.bcm.edu	37	19	9062263	9062263	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9062263T>C	ENST00000397910.4	-	3	25386	c.25183A>G	c.(25183-25185)Ata>Gta	p.I8395V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8397	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTGGATATGGAAACACTC	0.483																																					p.I8395V		Atlas-SNP	.											.	MUC16	4315	.	0			c.A25183G						.						133.0	126.0	128.0					19																	9062263		2000	4173	6173	SO:0001583	missense	94025	exon3			TGGATATGGAAAC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25183A>G	chr19.hg19:g.9062263T>C	ENSP00000381008:p.Ile8395Val	52.0	0.0		54.0	30.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.445	-0.113300	0.06881	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.69	-5.38	0.02673	.	.	.	.	.	T	0.12263	0.0298	N	0.22421	0.69	.	.	.	B	0.11235	0.004	B	0.12156	0.007	T	0.29274	-1.0017	8	0.87932	D	0	.	0.4557	0.00508	0.2815:0.226:0.2982:0.1943	.	8395	B5ME49	.	V	8395	ENSP00000381008:I8395V	ENSP00000381008:I8395V	I	-	1	0	MUC16	8923263	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.963000	0.01513	-1.915000	0.01077	0.324000	0.21423	ATA	.	.		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9067175	9067175	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9067175A>T	ENST00000397910.4	-	3	20474	c.20271T>A	c.(20269-20271)acT>acA	p.T6757T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6759	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGGATGTAGTTGGTGTGT	0.478																																					p.T6757T		Atlas-SNP	.											.	MUC16	4315	.	0			c.T20271A						.						273.0	268.0	270.0					19																	9067175		2199	4295	6494	SO:0001819	synonymous_variant	94025	exon3			GGATGTAGTTGGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20271T>A	chr19.hg19:g.9067175A>T		84.0	0.0		58.0	27.0	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																			.	.		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9067507	9067507	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9067507T>C	ENST00000397910.4	-	3	20142	c.19939A>G	c.(19939-19941)Att>Gtt	p.I6647V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6649	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCATCTCAATCCTTGTAATC	0.502																																					p.I6647V		Atlas-SNP	.											.	MUC16	4315	.	0			c.A19939G						.						104.0	102.0	103.0					19																	9067507		2022	4181	6203	SO:0001583	missense	94025	exon3			TCTCAATCCTTGT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19939A>G	chr19.hg19:g.9067507T>C	ENSP00000381008:p.Ile6647Val	96.0	0.0		90.0	42.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.155	0.584604	0.13749	.	.	ENSG00000181143	ENST00000397910	T	0.25250	1.81	2.57	-3.36	0.04913	.	.	.	.	.	T	0.14830	0.0358	L	0.38175	1.15	.	.	.	B	0.16603	0.018	B	0.11329	0.006	T	0.34004	-0.9846	8	0.87932	D	0	.	0.3985	0.00422	0.3637:0.1247:0.1862:0.3253	.	6647	B5ME49	.	V	6647	ENSP00000381008:I6647V	ENSP00000381008:I6647V	I	-	1	0	MUC16	8928507	0.000000	0.05858	0.000000	0.03702	0.579000	0.36224	-1.351000	0.02622	-0.919000	0.03803	0.138000	0.15974	ATT	.	.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9069194	9069194	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9069194G>A	ENST00000397910.4	-	3	18455	c.18252C>T	c.(18250-18252)gcC>gcT	p.A6084A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6086	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATCACCAGGGCGGTGCTGT	0.483																																					p.A6084A		Atlas-SNP	.											.	MUC16	4315	.	0			c.C18252T						.						77.0	85.0	83.0					19																	9069194		2120	4246	6366	SO:0001819	synonymous_variant	94025	exon3			CACCAGGGCGGTG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18252C>T	chr19.hg19:g.9069194G>A		111.0	0.0		111.0	56.0	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																			.	.		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9071260	9071260	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9071260T>A	ENST00000397910.4	-	3	16389	c.16186A>T	c.(16186-16188)Agc>Tgc	p.S5396C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5398	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCTGCTCAAATTTGGA	0.502																																					p.S5396C		Atlas-SNP	.											.	MUC16	4315	.	0			c.A16186T						.						350.0	328.0	335.0					19																	9071260		2073	4219	6292	SO:0001583	missense	94025	exon3			TGCTGCTCAAATT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16186A>T	chr19.hg19:g.9071260T>A	ENSP00000381008:p.Ser5396Cys	100.0	0.0		96.0	42.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.710	-0.059692	0.07317	.	.	ENSG00000181143	ENST00000397910	T	0.30448	1.53	2.38	-1.08	0.09936	.	.	.	.	.	T	0.28167	0.0695	L	0.27053	0.805	.	.	.	D	0.61697	0.99	P	0.54460	0.753	T	0.36962	-0.9726	8	0.87932	D	0	.	5.859	0.18736	0.0:0.4604:0.0:0.5396	.	5396	B5ME49	.	C	5396	ENSP00000381008:S5396C	ENSP00000381008:S5396C	S	-	1	0	MUC16	8932260	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.423000	0.21313	-0.376000	0.07943	-0.736000	0.03550	AGC	.	.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9077042	9077042	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9077042G>T	ENST00000397910.4	-	3	10607	c.10404C>A	c.(10402-10404)gaC>gaA	p.D3468E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3469	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGCCTTGGTCTCCAGAGG	0.502																																					p.D3468E		Atlas-SNP	.											.	MUC16	4315	.	0			c.C10404A						.						118.0	115.0	116.0					19																	9077042		2102	4221	6323	SO:0001583	missense	94025	exon3			GCCTTGGTCTCCA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10404C>A	chr19.hg19:g.9077042G>T	ENSP00000381008:p.Asp3468Glu	55.0	0.0		47.0	27.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.223	0.409355	0.11812	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	2.13	-4.26	0.03755	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.41236	0.351	T	0.44329	-0.9335	8	0.87932	D	0	.	3.7188	0.08448	0.5467:0.0:0.2655:0.1879	.	3468	B5ME49	.	E	3468	ENSP00000381008:D3468E	ENSP00000381008:D3468E	D	-	3	2	MUC16	8938042	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-0.822000	0.04448	-1.238000	0.02535	0.313000	0.20887	GAC	.	.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7G1	125962	hgsc.bcm.edu	37	19	9226012	9226012	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:9226012A>T	ENST00000541538.1	-	1	427	c.428T>A	c.(427-429)tTg>tAg	p.L143*	OR7G1_ENST00000293614.1_Nonsense_Mutation_p.L143*	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AAGAATCAGCAAGCCCCAGAA	0.483																																					p.L143X		Atlas-SNP	.											.	OR7G1	53	.	0			c.T428A						.						84.0	87.0	86.0					19																	9226012		2203	4300	6503	SO:0001587	stop_gained	125962	exon1			ATCAGCAAGCCCC		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.428T>A	chr19.hg19:g.9226012A>T	ENSP00000444134:p.Leu143*	92.0	0.0		89.0	32.0	NM_001005192	Q6IFJ5|Q96RA1	Nonsense_Mutation	SNP	ENST00000541538.1	hg19	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	a	12.96	2.093750	0.36952	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	.	.	.	3.78	-3.53	0.04667	.	0.620307	0.12078	U	0.501552	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8569	0.13564	0.1973:0.0:0.2747:0.528	.	.	.	.	X	143	.	ENSP00000293614:L143X	L	-	2	0	OR7G1	9087012	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.867000	0.01646	-0.515000	0.06479	0.410000	0.27636	TTG	.	.		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		
S1PR5	53637	hgsc.bcm.edu	37	19	10624587	10624587	+	Silent	SNP	C	C	T	rs544821498		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:10624587C>T	ENST00000439028.3	-	2	1226	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	S1PR5_ENST00000333430.4_Silent_p.S367S	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	367					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CGCGCTGGGGCGATGAGCGCT	0.731													C|||	1	0.000199681	0.0	0.0	5008	,	,		11295	0.0		0.0	False		,,,				2504	0.001				p.S367S		Atlas-SNP	.											.	S1PR5	33	.	0			c.G1101A						.						11.0	15.0	14.0					19																	10624587		2158	4218	6376	SO:0001819	synonymous_variant	53637	exon2			CTGGGGCGATGAG	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.1101G>A	chr19.hg19:g.10624587C>T		33.0	0.0		36.0	18.0	NM_030760	Q6NW11	Silent	SNP	ENST00000439028.3	hg19	CCDS12240.1																																																																																			.	.		0.731	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760	
S1PR5	53637	hgsc.bcm.edu	37	19	10625481	10625481	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:10625481A>G	ENST00000439028.3	-	2	332	c.207T>C	c.(205-207)gcT>gcC	p.A69A	S1PR5_ENST00000333430.4_Silent_p.A69A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	69					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GGAACATGGGAGCGTGGAAGC	0.662																																					p.A69A		Atlas-SNP	.											S1PR5,colon,carcinoma,-2,1	S1PR5	33	.	0			c.T207C						.						39.0	32.0	35.0					19																	10625481		2195	4297	6492	SO:0001819	synonymous_variant	53637	exon2			CATGGGAGCGTGG	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.207T>C	chr19.hg19:g.10625481A>G		70.0	0.0		70.0	17.0	NM_030760	Q6NW11	Silent	SNP	ENST00000439028.3	hg19	CCDS12240.1																																																																																			.	.		0.662	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760	
SMARCA4	6597	hgsc.bcm.edu	37	19	11101907	11101907	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:11101907A>C	ENST00000429416.3	+	9	1608	c.1327A>C	c.(1327-1329)Aag>Cag	p.K443Q	SMARCA4_ENST00000358026.2_Missense_Mutation_p.K443Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K443Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K443Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K443Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K443Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K443Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K443Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K443Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	443					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAGCGCAGCAAGCGCCAGTC	0.637			"""F, N, Mis"""		NSCLC																																p.K443Q		Atlas-SNP	.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4	502	.	1	Unknown(1)	lung(1)	c.A1327C						.						46.0	44.0	45.0					19																	11101907		2203	4300	6503	SO:0001583	missense	6597	exon8			CGCAGCAAGCGCC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1327A>C	chr19.hg19:g.11101907A>C	ENSP00000395654:p.Lys443Gln	94.0	0.0		90.0	33.0	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	hg19	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785314	0.90282	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.86	4.86	0.63082	.	0.056734	0.64402	D	0.000002	T	0.69611	0.3130	M	0.89601	3.045	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.99;0.994;0.994;0.99;0.968;0.994;0.994	T	0.77064	-0.2726	10	0.87932	D	0	-49.5151	13.8602	0.63554	1.0:0.0:0.0:0.0	.	443;443;443;443;443;443;443	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Q	443	ENSP00000395654:K443Q;ENSP00000350720:K443Q;ENSP00000343896:K443Q;ENSP00000445036:K443Q;ENSP00000392837:K443Q;ENSP00000397783:K443Q;ENSP00000414727:K443Q	ENSP00000343896:K443Q	K	+	1	0	SMARCA4	10962907	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.053000	0.93860	2.177000	0.69029	0.533000	0.62120	AAG	.	.		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
NFIX	4784	hgsc.bcm.edu	37	19	13136064	13136064	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:13136064A>T	ENST00000592199.1	+	2	257	c.257A>T	c.(256-258)gAg>gTg	p.E86V	NFIX_ENST00000587260.1_Missense_Mutation_p.E85V|NFIX_ENST00000358552.3_Missense_Mutation_p.E85V|NFIX_ENST00000587760.1_Missense_Mutation_p.E78V|NFIX_ENST00000397661.2_Missense_Mutation_p.E86V|NFIX_ENST00000585575.1_Missense_Mutation_p.E78V|NFIX_ENST00000588228.1_Missense_Mutation_p.E39V|NFIX_ENST00000360105.4_Missense_Mutation_p.E89V			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	86					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ATCCGGCCCGAGTTCCGCGAG	0.657																																					p.E94V		Atlas-SNP	.											.	NFIX	61	.	0			c.A281T						.						54.0	55.0	54.0					19																	13136064		2203	4300	6503	SO:0001583	missense	4784	exon2			GGCCCGAGTTCCG	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.257A>T	chr19.hg19:g.13136064A>T	ENSP00000467512:p.Glu86Val	66.0	0.0		61.0	28.0	NM_001271043	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	hg19		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092373	0.76756	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.77877	-1.13;-1.13	5.26	5.26	0.73747	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87257	0.6132	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;0.996;1.0;0.997	D;D;D;D;D	0.87578	0.996;0.993;0.99;0.998;0.993	D	0.88828	0.3303	10	0.87932	D	0	.	14.1503	0.65378	1.0:0.0:0.0:0.0	.	94;85;89;86;86	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	V	86;86;89;39;85	ENSP00000380781:E86V;ENSP00000351354:E85V	ENSP00000264825:E89V	E	+	2	0	NFIX	12997064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.283000	0.95860	1.992000	0.58205	0.533000	0.62120	GAG	.	.		0.657	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501	
CACNA1A	773	hgsc.bcm.edu	37	19	13411364	13411364	+	Splice_Site	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:13411364A>T	ENST00000360228.5	-	18	2278	c.2279T>A	c.(2278-2280)gTg>gAg	p.V760E	CACNA1A_ENST00000573710.2_Splice_Site_p.V761E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	761					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCACTTACACAGCTATAGA	0.547																																					p.V761E		Atlas-SNP	.											.	CACNA1A	715	.	0			c.T2282A						.						170.0	179.0	176.0					19																	13411364		2027	4190	6217	SO:0001630	splice_region_variant	773	exon18			ACTTACACAGCTA	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2279+1T>A	chr19.hg19:g.13411364A>T		87.0	0.0		74.0	23.0	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	hg19	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853333	0.32791	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95690	-3.78	5.19	5.19	0.71726	.	4.557950	0.00846	N	0.001790	D	0.92257	0.7544	L	0.29908	0.895	0.42082	D	0.991257	B;B;B	0.31153	0.09;0.145;0.31	B;B;B	0.29176	0.031;0.099;0.092	T	0.77305	-0.2637	9	.	.	.	.	8.712	0.34389	0.9129:0.0:0.0871:0.0	.	761;764;760	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	E	760;764;761;761	ENSP00000353362:V760E	.	V	-	2	0	CACNA1A	13272364	1.000000	0.71417	0.996000	0.52242	0.743000	0.42351	3.198000	0.51035	1.959000	0.56917	0.402000	0.26972	GTG	.	.		0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	Missense_Mutation
EMR3	84658	hgsc.bcm.edu	37	19	14749129	14749129	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:14749129A>T	ENST00000253673.5	-	11	1372	c.1272T>A	c.(1270-1272)ggT>ggA	p.G424G	EMR3_ENST00000344373.4_Silent_p.G372G|EMR3_ENST00000443157.2_Silent_p.G298G|EMR3_ENST00000599900.1_Silent_p.G209G	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	424					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGCAAAGCACCGGCGATGA	0.577																																					p.G424G		Atlas-SNP	.											.	EMR3	99	.	0			c.T1272A						.						89.0	71.0	77.0					19																	14749129		2203	4300	6503	SO:0001819	synonymous_variant	84658	exon11			CAAAGCACCGGCG	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1272T>A	chr19.hg19:g.14749129A>T		78.0	0.0		55.0	30.0	NM_032571		Silent	SNP	ENST00000253673.5	hg19	CCDS12315.1																																																																																			.	.		0.577	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
EMR3	84658	hgsc.bcm.edu	37	19	14755018	14755018	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:14755018T>A	ENST00000253673.5	-	9	1052	c.952A>T	c.(952-954)Agg>Tgg	p.R318W	EMR3_ENST00000344373.4_Missense_Mutation_p.R266W|EMR3_ENST00000443157.2_Missense_Mutation_p.R192W|EMR3_ENST00000599900.1_Missense_Mutation_p.R103W	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	318	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAGCCATCCCTGGACCACTGG	0.517																																					p.R318W		Atlas-SNP	.											EMR3,ear,carcinoma,+1,1	EMR3	99	.	0			c.A952T						.						107.0	91.0	96.0					19																	14755018		2203	4300	6503	SO:0001583	missense	84658	exon9			CATCCCTGGACCA	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.952A>T	chr19.hg19:g.14755018T>A	ENSP00000253673:p.Arg318Trp	75.0	0.0		66.0	30.0	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	hg19	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	t	20.7	4.034925	0.75617	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.69561	-0.41;-0.41;-0.41	3.3	3.3	0.37823	GPS domain (3);	.	.	.	.	T	0.71392	0.3334	L	0.52126	1.63	0.09310	N	1	D;P;P	0.52996	0.957;0.947;0.952	P;P;P	0.58520	0.84;0.649;0.762	T	0.59968	-0.7354	9	0.87932	D	0	.	8.3393	0.32235	0.0:0.0:0.0:1.0	.	192;266;318	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	W	192;318;266	ENSP00000396208:R192W;ENSP00000253673:R318W;ENSP00000340758:R266W	ENSP00000253673:R318W	R	-	1	2	EMR3	14616018	0.000000	0.05858	0.383000	0.26132	0.747000	0.42532	-0.646000	0.05403	1.531000	0.49152	0.520000	0.50463	AGG	.	.		0.517	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
ZNF333	84449	hgsc.bcm.edu	37	19	14828536	14828536	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:14828536T>C	ENST00000292530.6	+	11	982	c.891T>C	c.(889-891)gaT>gaC	p.D297D	ZNF333_ENST00000536363.1_Silent_p.D188D|ZNF333_ENST00000540689.2_Silent_p.D297D	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTCCATTGATGTGAAAGGGG	0.438																																					p.D297D	NSCLC(60;75 1281 16985 25154 29885)	Atlas-SNP	.											.	ZNF333	76	.	0			c.T891C						.						135.0	120.0	125.0					19																	14828536		2203	4300	6503	SO:0001819	synonymous_variant	84449	exon11			CATTGATGTGAAA		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.891T>C	chr19.hg19:g.14828536T>C		73.0	0.0		60.0	30.0	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	ENST00000292530.6	hg19	CCDS12316.1																																																																																			.	.		0.438	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
NOTCH3	4854	hgsc.bcm.edu	37	19	15290991	15290991	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:15290991T>G	ENST00000263388.2	-	20	3294	c.3219A>C	c.(3217-3219)ccA>ccC	p.P1073P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1073	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TACGGCCCTCTGGGCACACGC	0.652																																					p.P1073P		Atlas-SNP	.											.	NOTCH3	340	.	0			c.A3219C						.						59.0	51.0	54.0					19																	15290991		2203	4300	6503	SO:0001819	synonymous_variant	4854	exon20			GCCCTCTGGGCAC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3219A>C	chr19.hg19:g.15290991T>G		55.0	0.0		52.0	25.0	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	hg19	CCDS12326.1																																																																																			.	.		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
NOTCH3	4854	hgsc.bcm.edu	37	19	15299987	15299987	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:15299987T>A	ENST00000263388.2	-	8	1268		c.e8-2			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTTGGCGCCTGCCGGATGGA	0.667																																					.		Atlas-SNP	.											.	NOTCH3	340	.	0			c.1193-2A>T						.						55.0	50.0	52.0					19																	15299987		2203	4300	6503	SO:0001630	splice_region_variant	4854	exon9			GGCGCCTGCCGGA	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1193-2A>T	chr19.hg19:g.15299987T>A		79.0	0.0		66.0	25.0	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	hg19	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629605	0.28978	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2963	0.60298	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15160987	1.000000	0.71417	0.571000	0.28486	0.003000	0.03518	7.529000	0.81952	1.789000	0.52484	0.459000	0.35465	.	.	.		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron
F2RL3	9002	hgsc.bcm.edu	37	19	17000522	17000522	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:17000522T>A	ENST00000248076.3	+	2	578	c.248T>A	c.(247-249)cTc>cAc	p.L83H	F2RL3_ENST00000599210.1_Missense_Mutation_p.S82T	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	83					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGCCCGCCCTCTATGGGCTG	0.687																																					p.L83H		Atlas-SNP	.											.	F2RL3	20	.	0			c.T248A						.						14.0	15.0	15.0					19																	17000522		2188	4273	6461	SO:0001583	missense	9002	exon2			CCGCCCTCTATGG	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.248T>A	chr19.hg19:g.17000522T>A	ENSP00000248076:p.Leu83His	20.0	0.0		25.0	13.0	NM_003950	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	hg19	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262985	0.59431	.	.	ENSG00000127533	ENST00000248076	T	0.46063	0.88	4.0	4.0	0.46444	.	0.179139	0.36740	U	0.002433	T	0.43523	0.1251	N	0.19112	0.55	0.45806	D	0.998688	D	0.67145	0.996	P	0.61201	0.885	T	0.34800	-0.9814	10	0.40728	T	0.16	.	12.1057	0.53811	0.0:0.0:0.0:1.0	.	83	Q96RI0	PAR4_HUMAN	H	83	ENSP00000248076:L83H	ENSP00000248076:L83H	L	+	2	0	F2RL3	16861522	1.000000	0.71417	0.031000	0.17742	0.286000	0.27126	7.553000	0.82203	1.466000	0.48025	0.402000	0.26972	CTC	.	.		0.687	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1		
IL12RB1	3594	hgsc.bcm.edu	37	19	18171954	18171954	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:18171954A>G	ENST00000600835.2	-	16	2067	c.1769T>C	c.(1768-1770)aTt>aCt	p.I590T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.I590T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	590					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGAACTCAATGGCGGAGCT	0.537																																					p.I590T		Atlas-SNP	.											.	IL12RB1	92	.	0			c.T1769C						.						36.0	39.0	38.0					19																	18171954		1926	4126	6052	SO:0001583	missense	3594	exon15			AACTCAATGGCGG	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1769T>C	chr19.hg19:g.18171954A>G	ENSP00000470788:p.Ile590Thr	307.0	0.0		268.0	122.0	NM_005535	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	hg19	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.548783	0.00926	.	.	ENSG00000096996	ENST00000430026	T	0.80480	-1.38	2.47	2.47	0.30058	.	0.972993	0.08343	N	0.960587	T	0.57621	0.2066	N	0.11427	0.14	0.20196	N	0.999927	P;B	0.36535	0.557;0.421	B;B	0.30495	0.116;0.054	T	0.47699	-0.9097	10	0.11794	T	0.64	-10.6607	6.8551	0.24036	1.0:0.0:0.0:0.0	.	590;590	P42701-2;P42701	.;I12R1_HUMAN	T	590	ENSP00000403103:I590T	ENSP00000403103:I590T	I	-	2	0	IL12RB1	18032954	0.013000	0.17824	0.002000	0.10522	0.055000	0.15305	3.466000	0.53071	1.407000	0.46875	0.240000	0.17902	ATT	.	.		0.537	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
KIAA1683	80726	hgsc.bcm.edu	37	19	18377981	18377982	+	Missense_Mutation	DNP	CA	CA	AG	rs61740692	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:18377981_18377982CA>AG	ENST00000600328.3	-	3	561_562	c.368_369TG>CT	c.(367-369)cTG>cCT	p.L123P	KIAA1683_ENST00000392413.4_Missense_Mutation_p.L123P|KIAA1683_ENST00000600359.3_Missense_Mutation_p.L77P			Q9H0B3	K1683_HUMAN	KIAA1683	123	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCTGGGAAATCAGCTTCTGCCG	0.564																																					p.L123L|p.L123P		Atlas-SNP	.											.	KIAA1683	190	.	0			c.G369T|c.T368C						.																																			SO:0001583	missense	80726	exon3			GGAAATCAGCTTC|GAAATCAGCTTCT	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.368_369delinsAG	chr19.hg19:g.18377981_18377982delinsAG	ENSP00000470780:p.Leu123Pro	77.0	0.0		74.0|72.0	33.0|31.0	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent|Missense_Mutation	SNP	ENST00000600328.3	hg19	CCDS32958.1																																																																																			.	C|0.984;G|0.016|.		0.564	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
TMEM161A	54929	hgsc.bcm.edu	37	19	19243552	19243552	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:19243552C>T	ENST00000162044.9	-	4	264	c.200G>A	c.(199-201)gGc>gAc	p.G67D	TMEM161A_ENST00000450333.2_Missense_Mutation_p.G67D|TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67D	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	67					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CTCACTAAGGCCATTGGCCCA	0.632																																					p.G67D		Atlas-SNP	.											.	TMEM161A	37	.	0			c.G200A						.						73.0	49.0	57.0					19																	19243552		2203	4300	6503	SO:0001583	missense	54929	exon4			CTAAGGCCATTGG	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.200G>A	chr19.hg19:g.19243552C>T	ENSP00000162044:p.Gly67Asp	98.0	0.0		86.0	35.0	NM_001256766	B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	ENST00000162044.9	hg19	CCDS12393.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457575	0.63401	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	3.86	3.86	0.44501	.	0.285572	0.38381	N	0.001716	T	0.73644	0.3613	M	0.69823	2.125	0.80722	D	1	D;D;D	0.69078	0.992;0.994;0.997	P;P;P	0.61940	0.767;0.851;0.896	T	0.74185	-0.3747	9	0.36615	T	0.2	.	13.6353	0.62219	0.0:1.0:0.0:0.0	.	67;67;67	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	D	67	.	ENSP00000162044:G67D	G	-	2	0	TMEM161A	19104552	0.982000	0.34865	0.814000	0.32528	0.671000	0.39405	3.843000	0.55865	1.868000	0.54150	0.462000	0.41574	GGC	.	.		0.632	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814	
CILP2	148113	hgsc.bcm.edu	37	19	19651056	19651056	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:19651056A>T	ENST00000291495.5	+	3	292	c.207A>T	c.(205-207)ggA>ggT	p.G69G	CILP2_ENST00000586018.1_Silent_p.G75G	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	69						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCACCCCGGAGGCGACGGCG	0.721																																					p.G69G		Atlas-SNP	.											.	CILP2	84	.	0			c.A207T						.						22.0	24.0	23.0					19																	19651056		2192	4297	6489	SO:0001819	synonymous_variant	148113	exon3			CCCCGGAGGCGAC	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.207A>T	chr19.hg19:g.19651056A>T		27.0	0.0		30.0	15.0	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	hg19	CCDS12405.1																																																																																			.	.		0.721	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
CILP2	148113	hgsc.bcm.edu	37	19	19655120	19655120	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:19655120G>T	ENST00000291495.5	+	8	1851	c.1766G>T	c.(1765-1767)gGc>gTc	p.G589V	CILP2_ENST00000586018.1_Missense_Mutation_p.G595V	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	589						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGCCTTCTGGCGCTTTCCGC	0.667																																					p.G589V		Atlas-SNP	.											.	CILP2	84	.	0			c.G1766T						.						66.0	74.0	71.0					19																	19655120		2203	4300	6503	SO:0001583	missense	148113	exon8			CTTCTGGCGCTTT	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1766G>T	chr19.hg19:g.19655120G>T	ENSP00000291495:p.Gly589Val	71.0	0.0		56.0	33.0	NM_153221	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	hg19	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	3.212	-0.161451	0.06502	.	.	ENSG00000160161	ENST00000291495	T	0.46063	0.88	3.77	2.62	0.31277	.	0.598723	0.17292	N	0.179616	T	0.27524	0.0676	L	0.34521	1.04	0.21386	N	0.999707	B;B	0.29936	0.262;0.262	B;B	0.32533	0.081;0.147	T	0.08827	-1.0703	10	0.31617	T	0.26	-6.6907	3.9515	0.09371	0.1268:0.0:0.6356:0.2376	.	589;589	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	V	589	ENSP00000291495:G589V	ENSP00000291495:G589V	G	+	2	0	CILP2	19516120	0.059000	0.20769	0.004000	0.12327	0.097000	0.18754	2.799000	0.47892	1.658000	0.50742	0.430000	0.28490	GGC	.	.		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
PBX4	80714	hgsc.bcm.edu	37	19	19675781	19675781	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:19675781G>A	ENST00000251203.9	-	6	1172	c.886C>T	c.(886-888)Cca>Tca	p.P296S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	296					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TGGTTCCCTGGGACCCCAACT	0.537																																					p.P296S		Atlas-SNP	.											.	PBX4	34	.	0			c.C886T						.						235.0	233.0	234.0					19																	19675781		2203	4300	6503	SO:0001583	missense	80714	exon6			TCCCTGGGACCCC	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.886C>T	chr19.hg19:g.19675781G>A	ENSP00000251203:p.Pro296Ser	107.0	0.0		94.0	47.0	NM_025245	A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	hg19	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	3.920	-0.018396	0.07681	.	.	ENSG00000105717	ENST00000251203	D	0.90444	-2.67	3.67	0.0742	0.14394	.	0.446039	0.21782	N	0.069191	T	0.67655	0.2916	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60520	-0.7247	10	0.02654	T	1	-30.8686	4.7298	0.12959	0.2038:0.0:0.6254:0.1708	.	296	Q9BYU1	PBX4_HUMAN	S	296	ENSP00000251203:P296S	ENSP00000251203:P296S	P	-	1	0	PBX4	19536781	0.387000	0.25188	0.001000	0.08648	0.300000	0.27592	2.243000	0.43115	-0.045000	0.13468	0.505000	0.49811	CCA	.	.		0.537	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6		
GMIP	51291	hgsc.bcm.edu	37	19	19749243	19749243	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:19749243T>C	ENST00000203556.4	-	8	723	c.586A>G	c.(586-588)Aag>Gag	p.K196E	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.K196E|GMIP_ENST00000445806.2_Missense_Mutation_p.K196E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	196					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACTGCTCCTTGAACTCCTTC	0.597																																					p.K196E		Atlas-SNP	.											.	GMIP	55	.	0			c.A586G						.						156.0	110.0	126.0					19																	19749243		2203	4300	6503	SO:0001583	missense	51291	exon8			GCTCCTTGAACTC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.586A>G	chr19.hg19:g.19749243T>C	ENSP00000203556:p.Lys196Glu	113.0	0.0		92.0	33.0	NM_016573	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	hg19	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634589	0.87660	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.42131	0.98;0.98	4.18	4.18	0.49190	.	0.000000	0.45606	D	0.000343	T	0.54902	0.1887	M	0.84219	2.685	0.47905	D	0.99954	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.53549	0.729;0.729;0.729	T	0.61461	-0.7058	10	0.87932	D	0	-34.4022	7.7174	0.28712	0.0:0.0:0.2142:0.7858	.	196;196;196	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	E	196	ENSP00000203556:K196E;ENSP00000397075:K196E	ENSP00000203556:K196E	K	-	1	0	GMIP	19610243	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.422000	0.80217	1.751000	0.51876	0.402000	0.26972	AAG	.	.		0.597	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	
ZNF93	81931	hgsc.bcm.edu	37	19	20026109	20026109	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:20026109T>C	ENST00000343769.5	+	2	52	c.24T>C	c.(22-24)gaT>gaC	p.D8D	ZNF93_ENST00000591366.1_Silent_p.D8D|AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592160.1_Silent_p.D8D	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AATTTAGAGATGTGGCCATAG	0.418																																					p.D8D		Atlas-SNP	.											.	ZNF93	81	.	0			c.T24C						.						107.0	116.0	113.0					19																	20026109		2203	4300	6503	SO:0001819	synonymous_variant	81931	exon2			TAGAGATGTGGCC	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.24T>C	chr19.hg19:g.20026109T>C		35.0	0.0		40.0	22.0	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	hg19	CCDS32973.1																																																																																			.	.		0.418	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF430	80264	hgsc.bcm.edu	37	19	21239855	21239855	+	Silent	SNP	C	C	T	rs148853343		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:21239855C>T	ENST00000261560.5	+	5	922	c.741C>T	c.(739-741)acC>acT	p.T247T	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	247					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T247T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGTTCTCAACCCTTACTAGAC	0.358																																					p.T247T		Atlas-SNP	.											ZNF430,abdomen,malignant_melanoma,0,1	ZNF430	59	.	1	Substitution - coding silent(1)	skin(1)	c.C741T						.						53.0	59.0	57.0					19																	21239855		2203	4300	6503	SO:0001819	synonymous_variant	80264	exon5			CTCAACCCTTACT	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.741C>T	chr19.hg19:g.21239855C>T		221.0	0.0		182.0	81.0	NM_025189	Q86V70	Silent	SNP	ENST00000261560.5	hg19	CCDS32978.1																																																																																			.	.		0.358	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF431	170959	hgsc.bcm.edu	37	19	21365902	21365902	+	Missense_Mutation	SNP	G	G	T	rs571315156		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:21365902G>T	ENST00000311048.7	+	5	940	c.796G>T	c.(796-798)Ggc>Tgc	p.G266C	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	266					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGAATGTGGCAAAGCTTT	0.398																																					p.G266C		Atlas-SNP	.											.	ZNF431	71	.	0			c.G796T						.						45.0	49.0	47.0					19																	21365902		2201	4296	6497	SO:0001583	missense	170959	exon5			GAATGTGGCAAAG	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.796G>T	chr19.hg19:g.21365902G>T	ENSP00000308578:p.Gly266Cys	67.0	0.0		78.0	39.0	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	hg19	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.025085	0.54683	.	.	ENSG00000196705	ENST00000311048	T	0.07800	3.16	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34048	0.0884	H	0.94183	3.505	0.37630	D	0.921655	D	0.76494	0.999	D	0.76575	0.988	T	0.44112	-0.9349	9	0.87932	D	0	.	8.8725	0.35325	0.0:0.0:1.0:0.0	.	266	Q8TF32	ZN431_HUMAN	C	266	ENSP00000308578:G266C	ENSP00000308578:G266C	G	+	1	0	ZNF431	21157742	1.000000	0.71417	0.912000	0.35992	0.907000	0.53573	2.316000	0.43761	0.446000	0.26666	0.449000	0.29647	GGC	.	.		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF429	353088	hgsc.bcm.edu	37	19	21719234	21719234	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:21719234A>G	ENST00000358491.4	+	4	587	c.379A>G	c.(379-381)Aaa>Gaa	p.K127E	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	127					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGCTATACAAAGGAGGTTA	0.328																																					p.K127E		Atlas-SNP	.											.	ZNF429	338	.	0			c.A379G						.						70.0	75.0	73.0					19																	21719234		2147	4264	6411	SO:0001583	missense	353088	exon4			CTATACAAAGGAG	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.379A>G	chr19.hg19:g.21719234A>G	ENSP00000351280:p.Lys127Glu	138.0	0.0		113.0	45.0	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	hg19	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.783	1.175721	0.21704	.	.	ENSG00000197013	ENST00000358491	T	0.06608	3.28	1.17	-0.026	0.13932	.	.	.	.	.	T	0.07863	0.0197	M	0.79805	2.47	0.09310	N	1	B	0.25719	0.132	B	0.20184	0.028	T	0.35500	-0.9786	9	0.32370	T	0.25	.	2.1397	0.03772	0.4071:0.3336:0.2593:0.0	.	127	Q86V71	ZN429_HUMAN	E	127	ENSP00000351280:K127E	ENSP00000351280:K127E	K	+	1	0	ZNF429	21511074	0.000000	0.05858	0.012000	0.15200	0.039000	0.13416	-0.314000	0.08092	0.486000	0.27676	0.248000	0.18094	AAA	.	.		0.328	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF729	100287226	hgsc.bcm.edu	37	19	22497586	22497586	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:22497586G>T	ENST00000601693.1	+	4	1485	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	ZNF729_ENST00000357491.6_Missense_Mutation_p.G456V			A6NN14	ZN729_HUMAN	zinc finger protein 729	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ATTCATACTGGGGAGAAACCA	0.363																																					p.G456V		Atlas-SNP	.											.	ZNF729	78	.	0			c.G1367T						.																																			SO:0001583	missense	100287226	exon4			ATACTGGGGAGAA		CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1367G>T	chr19.hg19:g.22497586G>T	ENSP00000469582:p.Gly456Val	33.0	0.0		42.0	21.0	NM_001242680	M0QY45	Missense_Mutation	SNP	ENST00000601693.1	hg19	CCDS59368.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.936857	0.34189	.	.	ENSG00000196350	ENST00000357491	T	0.01599	4.74	1.27	-2.54	0.06307	.	.	.	.	.	T	0.04452	0.0122	M	0.77616	2.38	.	.	.	.	.	.	.	.	.	T	0.17167	-1.0378	6	0.87932	D	0	.	5.5136	0.16894	0.0:0.208:0.583:0.209	.	.	.	.	V	456	ENSP00000350085:G456V	ENSP00000350085:G456V	G	+	2	0	ZNF729	22289426	0.357000	0.24938	0.006000	0.13384	0.007000	0.05969	0.443000	0.21644	-0.249000	0.09569	0.484000	0.47621	GGG	.	.		0.363	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464396.1	XM_496301	
ZNF728	388523	hgsc.bcm.edu	37	19	23158819	23158819	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:23158819A>T	ENST00000594710.1	-	4	1465	c.1320T>A	c.(1318-1320)acT>acA	p.T440T		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	440					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTTTATGTTTAGTAAGGCTCG	0.378																																					p.T440T		Atlas-SNP	.											.	.	.	.	0			c.T1320A						.																																			SO:0001819	synonymous_variant	388523	exon4			ATGTTTAGTAAGG	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.1320T>A	chr19.hg19:g.23158819A>T		16.0	0.0		16.0	10.0	NM_001267716		Silent	SNP	ENST00000594710.1	hg19	CCDS59370.1																																																																																			.	.		0.378	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716	
ZNF681	148213	hgsc.bcm.edu	37	19	23926975	23926975	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:23926975A>G	ENST00000402377.3	-	4	1518	c.1377T>C	c.(1375-1377)ttT>ttC	p.F459F	ZNF681_ENST00000395385.3_Silent_p.F390F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	459					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGAACTGGTTAAAGGCTTTCC	0.368																																					p.F459F		Atlas-SNP	.											.	ZNF681	76	.	0			c.T1377C						.						51.0	53.0	53.0					19																	23926975		2203	4299	6502	SO:0001819	synonymous_variant	148213	exon4			CTGGTTAAAGGCT	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1377T>C	chr19.hg19:g.23926975A>G		38.0	0.0		21.0	8.0	NM_138286	B3KVF7	Silent	SNP	ENST00000402377.3	hg19	CCDS12414.2																																																																																			.	.		0.368	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
ZNF536	9745	hgsc.bcm.edu	37	19	30935770	30935770	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:30935770T>G	ENST00000355537.3	+	2	1448	c.1301T>G	c.(1300-1302)cTg>cGg	p.L434R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	434					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCTCCTGCCTGCAGAGTGGC	0.652																																					p.L434R		Atlas-SNP	.											.	ZNF536	424	.	0			c.T1301G						.						30.0	32.0	31.0					19																	30935770		2202	4294	6496	SO:0001583	missense	9745	exon2			CCTGCCTGCAGAG		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1301T>G	chr19.hg19:g.30935770T>G	ENSP00000347730:p.Leu434Arg	69.0	0.0		62.0	21.0	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235969	0.39498	.	.	ENSG00000198597	ENST00000355537	T	0.10382	2.88	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.21103	0.0508	L	0.32530	0.975	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.06716	-1.0811	10	0.16896	T	0.51	-19.0498	15.4838	0.75548	0.0:0.0:0.0:1.0	.	434;434	A7E228;O15090	.;ZN536_HUMAN	R	434	ENSP00000347730:L434R	ENSP00000347730:L434R	L	+	2	0	ZNF536	35627610	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.667000	0.83888	2.049000	0.60858	0.482000	0.46254	CTG	.	.		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF507	22847	hgsc.bcm.edu	37	19	32843894	32843894	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:32843894A>G	ENST00000311921.4	+	2	350	c.158A>G	c.(157-159)aAg>aGg	p.K53R	ZNF507_ENST00000544431.1_Missense_Mutation_p.K53R|ZNF507_ENST00000355898.5_Missense_Mutation_p.K53R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAGTTAAGCAAGATAGTGGAA	0.363																																					p.K53R		Atlas-SNP	.											.	ZNF507	92	.	0			c.A158G						.						68.0	67.0	67.0					19																	32843894		2203	4300	6503	SO:0001583	missense	22847	exon3			TAAGCAAGATAGT	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.158A>G	chr19.hg19:g.32843894A>G	ENSP00000312277:p.Lys53Arg	74.0	0.0		78.0	36.0	NM_001136156	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	hg19	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046418	0.55110	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.10668	3.14;3.14;2.85	5.5	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	M	0.63843	1.955	0.33723	D	0.617236	D;D	0.89917	0.999;1.0	D;D	0.74023	0.941;0.982	T	0.28681	-1.0036	10	0.11794	T	0.64	.	7.462	0.27300	0.7848:0.1429:0.0723:0.0	.	53;53	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	R	53	ENSP00000348162:K53R;ENSP00000312277:K53R;ENSP00000441549:K53R	ENSP00000312277:K53R	K	+	2	0	ZNF507	37535734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.472000	0.73567	1.027000	0.39758	0.402000	0.26972	AAG	.	.		0.363	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910	
RGS9BP	388531	hgsc.bcm.edu	37	19	33167237	33167237	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:33167237T>A	ENST00000334176.3	+	1	925	c.68T>A	c.(67-69)cTg>cAg	p.L23Q	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	23					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					TACCACCACCTGGTGCTGACC	0.711																																					p.L23Q		Atlas-SNP	.											.	RGS9BP	9	.	0			c.T68A						.						34.0	27.0	29.0					19																	33167237		2145	4235	6380	SO:0001583	missense	388531	exon1			ACCACCTGGTGCT	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.68T>A	chr19.hg19:g.33167237T>A	ENSP00000334134:p.Leu23Gln	34.0	0.0		50.0	22.0	NM_207391	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	hg19	CCDS12424.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250804	0.80135	.	.	ENSG00000186326	ENST00000334176	T	0.31769	1.48	4.63	3.59	0.41128	.	0.181976	0.37530	U	0.002054	T	0.32376	0.0827	M	0.76328	2.33	0.53688	D	0.99997	P	0.40211	0.707	B	0.36244	0.22	T	0.20042	-1.0287	10	0.87932	D	0	-23.8121	10.5762	0.45229	0.1445:0.0:0.0:0.8555	.	23	Q6ZS82	R9BP_HUMAN	Q	23	ENSP00000334134:L23Q	ENSP00000334134:L23Q	L	+	2	0	RGS9BP	37859077	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	6.034000	0.70933	0.773000	0.33404	0.254000	0.18369	CTG	.	.		0.711	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391	
KMT2B	9757	hgsc.bcm.edu	37	19	36221017	36221017	+	Silent	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:36221017G>C	ENST00000222270.7	+	23	5067	c.5067G>C	c.(5065-5067)ctG>ctC	p.L1689L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.L1689L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1689					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGATCTCCTGGATGGCAAGG	0.587																																					p.L1689L		Atlas-SNP	.											.	MLL4	229	.	0			c.G5067C						.						54.0	59.0	57.0					19																	36221017		2066	4210	6276	SO:0001819	synonymous_variant	8085	exon23			TCTCCTGGATGGC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5067G>C	chr19.hg19:g.36221017G>C		157.0	0.0		113.0	55.0	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	hg19	CCDS46055.1																																																																																			.	.		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ARHGAP33	115703	hgsc.bcm.edu	37	19	36276186	36276186	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:36276186A>T	ENST00000007510.4	+	18	1961	c.1817A>T	c.(1816-1818)aAg>aTg	p.K606M	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.K470M|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.K606M			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	606					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTCCCTCGAAAGAAGCCCCTG	0.687																																					p.K606M		Atlas-SNP	.											.	ARHGAP33	102	.	0			c.A1817T						.						28.0	36.0	33.0					19																	36276186		2200	4293	6493	SO:0001583	missense	115703	exon18			CTCGAAAGAAGCC	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1817A>T	chr19.hg19:g.36276186A>T	ENSP00000007510:p.Lys606Met	98.0	0.0		92.0	43.0	NM_052948	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	hg19		.	.	.	.	.	.	.	.	.	.	A	13.28	2.188802	0.38609	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.13420	2.88;2.59;2.92	4.34	3.29	0.37713	.	0.409870	0.22740	N	0.056209	T	0.12220	0.0297	L	0.29908	0.895	0.34292	D	0.683363	B;P;B	0.36599	0.038;0.56;0.022	B;B;B	0.40825	0.053;0.341;0.046	T	0.17961	-1.0352	10	0.59425	D	0.04	.	9.1418	0.36908	0.8362:0.0:0.0:0.1638	.	606;470;606	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	M	606;606;470	ENSP00000007510:K606M;ENSP00000320038:K606M;ENSP00000368227:K470M	ENSP00000007510:K606M	K	+	2	0	ARHGAP33	40968026	0.892000	0.30473	0.996000	0.52242	0.997000	0.91878	0.912000	0.28597	0.679000	0.31345	0.379000	0.24179	AAG	.	.		0.687	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948	
ZNF585A	199704	hgsc.bcm.edu	37	19	37644045	37644045	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:37644045T>G	ENST00000356958.4	-	5	1014	c.756A>C	c.(754-756)acA>acC	p.T252T	ZNF585A_ENST00000292841.5_Silent_p.T197T|ZNF585A_ENST00000355533.2_Silent_p.T197T|ZNF585A_ENST00000392157.2_Silent_p.T197T|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGACTTTTGTGTGAATGCTT	0.433																																					p.T197T		Atlas-SNP	.											.	ZNF585A	117	.	0			c.A591C						.						155.0	154.0	154.0					19																	37644045		2203	4300	6503	SO:0001819	synonymous_variant	199704	exon6			CTTTTGTGTGAAT	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.756A>C	chr19.hg19:g.37644045T>G		71.0	0.0		72.0	37.0	NM_199126	Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	hg19																																																																																				.	.		0.433	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
WDR87	83889	hgsc.bcm.edu	37	19	38383818	38383818	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:38383818A>T	ENST00000303868.5	-	4	2632	c.2408T>A	c.(2407-2409)cTa>cAa	p.L803Q	WDR87_ENST00000447313.2_Missense_Mutation_p.L842Q	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	803										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GTTGCACTGTAGGTATATTGG	0.507																																					p.L803Q		Atlas-SNP	.											.	WDR87	191	.	0			c.T2408A						.						53.0	46.0	48.0					19																	38383818		692	1591	2283	SO:0001583	missense	83889	exon4			CACTGTAGGTATA	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2408T>A	chr19.hg19:g.38383818A>T	ENSP00000368025:p.Leu803Gln	66.0	0.0		61.0	23.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725619	0.48833	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.25749	1.78;1.78	5.77	5.77	0.91146	.	0.000000	0.46442	D	0.000288	T	0.49541	0.1563	M	0.70275	2.135	0.28076	N	0.932406	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51332	-0.8719	10	0.87932	D	0	-17.9325	12.4663	0.55759	1.0:0.0:0.0:0.0	.	803;842	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	Q	842;803	ENSP00000405012:L842Q;ENSP00000368025:L803Q	ENSP00000368025:L803Q	L	-	2	0	WDR87	43075658	0.998000	0.40836	0.441000	0.26858	0.945000	0.59286	4.749000	0.62155	2.186000	0.69663	0.523000	0.50628	CTA	.	.		0.507	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
WDR87	83889	hgsc.bcm.edu	37	19	38384319	38384319	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:38384319A>G	ENST00000303868.5	-	4	2131	c.1907T>C	c.(1906-1908)tTa>tCa	p.L636S	WDR87_ENST00000447313.2_Missense_Mutation_p.L675S	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	636										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AAGCAATTTTAAACAGGACAC	0.463																																					p.L636S		Atlas-SNP	.											.	WDR87	191	.	0			c.T1907C						.						64.0	59.0	60.0					19																	38384319		692	1591	2283	SO:0001583	missense	83889	exon4			AATTTTAAACAGG	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.1907T>C	chr19.hg19:g.38384319A>G	ENSP00000368025:p.Leu636Ser	50.0	0.0		53.0	18.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266700	0.23136	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11604	2.76;2.76	5.47	4.44	0.53790	.	0.000000	0.45606	D	0.000346	T	0.28665	0.0710	M	0.76328	2.33	0.25225	N	0.989877	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.05566	-1.0877	10	0.87932	D	0	-20.4717	8.3844	0.32491	0.9079:0.0:0.0921:0.0	.	636;675	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	S	675;636	ENSP00000405012:L675S;ENSP00000368025:L636S	ENSP00000368025:L636S	L	-	2	0	WDR87	43076159	0.071000	0.21146	1.000000	0.80357	0.498000	0.33706	3.422000	0.52749	2.062000	0.61559	0.523000	0.50628	TTA	.	.		0.463	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
RYR1	6261	hgsc.bcm.edu	37	19	39076640	39076640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:39076640G>T	ENST00000359596.3	+	103	14866	c.14866G>T	c.(14866-14868)Gag>Tag	p.E4956*	RYR1_ENST00000355481.4_Nonsense_Mutation_p.E4951*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.E4951*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4956					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGAGGATATGGAGGTAGGTCA	0.562																																					p.E4956X		Atlas-SNP	.											.	RYR1	708	.	0			c.G14866T						.						98.0	91.0	93.0					19																	39076640		2203	4300	6503	SO:0001587	stop_gained	6261	exon103			GATATGGAGGTAG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14866G>T	chr19.hg19:g.39076640G>T	ENSP00000352608:p.Glu4956*	69.0	0.0		56.0	25.0	NM_000540	Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	55	24.841755	0.99962	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4182	0.87506	0.0:0.0:1.0:0.0	.	.	.	.	X	4956;4951;4951	.	ENSP00000347667:E4951X	E	+	1	0	RYR1	43768480	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.647000	0.98478	2.423000	0.82170	0.650000	0.86243	GAG	.	.		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
FBXO27	126433	hgsc.bcm.edu	37	19	39517611	39517611	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:39517611T>A	ENST00000292853.4	-	5	726	c.607A>T	c.(607-609)Aga>Tga	p.R203*	FBXO27_ENST00000509137.2_Nonsense_Mutation_p.R203*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.R202*	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	203	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACGAGGAGTCTGTACATACAG	0.557																																					p.R203X		Atlas-SNP	.											.	FBXO27	26	.	0			c.A607T						.						155.0	146.0	149.0					19																	39517611		2203	4300	6503	SO:0001587	stop_gained	126433	exon5			GGAGTCTGTACAT	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.607A>T	chr19.hg19:g.39517611T>A	ENSP00000292853:p.Arg203*	88.0	0.0		85.0	26.0	NM_178820	Q96C87	Nonsense_Mutation	SNP	ENST00000292853.4	hg19	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265772	0.59540	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	.	.	.	3.97	-0.938	0.10412	.	1.130880	0.06812	N	0.790508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.8285	1.1537	0.01791	0.2076:0.1699:0.4398:0.1827	.	.	.	.	X	203	.	ENSP00000292853:R203X	R	-	1	2	FBXO27	44209451	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.189000	0.09629	-0.126000	0.11682	-1.525000	0.00928	AGA	.	.		0.557	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1		
TTC9B	148014	hgsc.bcm.edu	37	19	40724111	40724111	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:40724111T>A	ENST00000311308.6	-	1	195	c.178A>T	c.(178-180)Agc>Tgc	p.S60C		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	60					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CGCAGGCTGCTGTCGAGCGCC	0.721																																					p.S60C		Atlas-SNP	.											.	TTC9B	8	.	0			c.A178T						.						21.0	18.0	19.0					19																	40724111		2201	4295	6496	SO:0001583	missense	148014	exon1			GGCTGCTGTCGAG	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.178A>T	chr19.hg19:g.40724111T>A	ENSP00000311760:p.Ser60Cys	22.0	0.0		30.0	17.0	NM_152479	A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	hg19	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213691	0.58452	.	.	ENSG00000174521	ENST00000311308	T	0.19250	2.16	4.46	3.41	0.39046	.	0.560619	0.18353	N	0.143823	T	0.16599	0.0399	L	0.47190	1.495	0.28992	N	0.888	B	0.06786	0.001	B	0.04013	0.001	T	0.19679	-1.0298	10	0.72032	D	0.01	-13.6359	3.7149	0.08434	0.192:0.1037:0.0:0.7043	.	60	Q8N6N2	TTC9B_HUMAN	C	60	ENSP00000311760:S60C	ENSP00000311760:S60C	S	-	1	0	TTC9B	45415951	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.196000	0.32198	0.552000	0.29026	0.241000	0.17934	AGC	.	.		0.721	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479	
PRX	57716	hgsc.bcm.edu	37	19	40903671	40903671	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:40903671T>A	ENST00000324001.7	-	7	858	c.588A>T	c.(586-588)cgA>cgT	p.R196R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	196	Arg/Lys-rich (basic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCCACTTCTCGTACACGCA	0.711																																					p.R196R		Atlas-SNP	.											.	PRX	151	.	0			c.A588T						.						4.0	5.0	5.0					19																	40903671		2009	3972	5981	SO:0001819	synonymous_variant	57716	exon7			CACTTCTCGTACA	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.588A>T	chr19.hg19:g.40903671T>A		23.0	0.0		19.0	10.0	NM_181882	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	hg19	CCDS33028.1																																																																																			.	.		0.711	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
CEACAM6	4680	hgsc.bcm.edu	37	19	42265920	42265920	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:42265920C>G	ENST00000199764.6	+	4	965	c.747C>G	c.(745-747)taC>taG	p.Y249*	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	249	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGGCCAATTACCGTCCAGGGG	0.517																																					p.Y249X		Atlas-SNP	.											.	CEACAM6	52	.	0			c.C747G						.						92.0	91.0	91.0					19																	42265920		2203	4300	6503	SO:0001587	stop_gained	4680	exon4			CAATTACCGTCCA	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.747C>G	chr19.hg19:g.42265920C>G	ENSP00000199764:p.Tyr249*	130.0	0.0		110.0	44.0	NM_002483	Q13774|Q14920|Q53XP7	Nonsense_Mutation	SNP	ENST00000199764.6	hg19	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392338	0.95988	.	.	ENSG00000086548	ENST00000199764	.	.	.	1.87	0.662	0.17880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.8308	0.18579	0.0:0.6345:0.3655:0.0	.	.	.	.	X	249	.	ENSP00000199764:Y249X	Y	+	3	2	CEACAM6	46957760	0.000000	0.05858	0.046000	0.18839	0.794000	0.44872	-0.311000	0.08124	0.076000	0.16826	0.305000	0.20034	TAC	.	.		0.517	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1		
LYPD4	147719	hgsc.bcm.edu	37	19	42342129	42342129	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:42342129A>C	ENST00000330743.3	-	4	1629	c.418T>G	c.(418-420)Tgt>Ggt	p.C140G	LYPD4_ENST00000343055.4_Missense_Mutation_p.C105G|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.C105G	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	140						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GGGCAGCTACAGGACGCAGAT	0.512																																					p.C140G		Atlas-SNP	.											.	LYPD4	30	.	0			c.T418G						.						123.0	106.0	111.0					19																	42342129		2203	4300	6503	SO:0001583	missense	147719	exon4			AGCTACAGGACGC	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.418T>G	chr19.hg19:g.42342129A>C	ENSP00000328737:p.Cys140Gly	117.0	0.0		97.0	45.0	NM_173506	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	hg19	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	N	4.636	0.118245	0.08881	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.68903	-0.36;-0.36	4.13	0.51	0.16983	.	1.693900	0.02980	N	0.145524	T	0.45175	0.1329	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23726	-1.0180	10	0.25106	T	0.35	0.6212	5.5958	0.17327	0.0988:0.0:0.3812:0.52	.	105;140	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	G	140;105	ENSP00000328737:C140G;ENSP00000339568:C105G	ENSP00000328737:C140G	C	-	1	0	LYPD4	47033969	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.215000	0.17562	-0.013000	0.14199	-0.370000	0.07254	TGT	.	.		0.512	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	
POU2F2	5452	hgsc.bcm.edu	37	19	42621499	42621499	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:42621499C>A	ENST00000526816.2	-	5	221	c.206G>T	c.(205-207)aGt>aTt	p.S69I	POU2F2_ENST00000529952.1_Missense_Mutation_p.S69I|POU2F2_ENST00000342301.4_Missense_Mutation_p.S69I|POU2F2_ENST00000389341.5_Missense_Mutation_p.S69I|POU2F2_ENST00000529067.1_Missense_Mutation_p.S69I|POU2F2_ENST00000533720.1_Missense_Mutation_p.S69I|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560398.1_Missense_Mutation_p.S91I			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	69					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGAATCGCCACTGGGGTCTTC	0.637																																					p.S69I		Atlas-SNP	.											.	POU2F2	106	.	0			c.G206T						.						44.0	46.0	45.0					19																	42621499		2203	4299	6502	SO:0001583	missense	5452	exon5			TCGCCACTGGGGT		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.206G>T	chr19.hg19:g.42621499C>A	ENSP00000431603:p.Ser69Ile	26.0	0.0		34.0	21.0	NM_002698	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	hg19	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878207	0.51801	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	D;D;D;D;D	0.85013	-1.86;-1.75;-1.93;-1.64;-1.69	3.97	3.97	0.46021	.	4.182530	0.00633	U	0.000485	D	0.84320	0.5446	L	0.39898	1.24	0.32974	D	0.522724	P;P;P	0.46512	0.589;0.879;0.804	B;B;B	0.43680	0.122;0.427;0.256	T	0.76971	-0.2761	10	0.72032	D	0.01	.	11.3907	0.49813	0.0:0.8157:0.1843:0.0	.	69;69;69	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	I	69;69;69;69;68;69;69;57	ENSP00000373992:S69I;ENSP00000339369:S69I;ENSP00000437221:S69I;ENSP00000437224:S69I;ENSP00000436988:S69I	ENSP00000292077:S69I	S	-	2	0	POU2F2	47313339	0.998000	0.40836	0.995000	0.50966	0.706000	0.40770	1.762000	0.38451	2.216000	0.71823	0.305000	0.20034	AGT	.	.		0.637	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
CIC	23152	hgsc.bcm.edu	37	19	42793207	42793207	+	Missense_Mutation	SNP	G	G	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:42793207G>C	ENST00000575354.2	+	7	1139	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q	CIC_ENST00000572681.2_Missense_Mutation_p.E1276Q|CIC_ENST00000160740.3_Missense_Mutation_p.E367Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACGGCGGAGAAGTAGACAG	0.667			"""Mis, F, S"""		oligodendroglioma																																p.E367Q		Atlas-SNP	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249	.	0			c.G1099C						.						46.0	51.0	49.0					19																	42793207		2203	4297	6500	SO:0001583	missense	23152	exon7			GGCGGAGAAGTAG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1099G>C	chr19.hg19:g.42793207G>C	ENSP00000458663:p.Glu367Gln	34.0	0.0		31.0	18.0	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489945	0.26686	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.76	3.73	0.42828	.	.	.	.	.	T	0.53126	0.1777	L	0.27053	0.805	0.37514	D	0.917255	D	0.61697	0.99	P	0.57204	0.815	T	0.62343	-0.6874	8	0.87932	D	0	-10.5508	12.2832	0.54776	0.0:0.0:0.8292:0.1708	.	367	Q96RK0	CIC_HUMAN	Q	367	.	ENSP00000160740:E367Q	E	+	1	0	CIC	47485047	1.000000	0.71417	0.839000	0.33178	0.017000	0.09413	4.791000	0.62460	1.242000	0.43836	-0.234000	0.12200	GAA	.	.		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
CXCL17	284340	hgsc.bcm.edu	37	19	42937971	42937971	+	Silent	SNP	A	A	G	rs545020215	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:42937971A>G	ENST00000601181.1	-	2	332	c.117T>C	c.(115-117)tcT>tcC	p.S39S	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	39					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	extracellular region (GO:0005576)				large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				GCCATCTCCTAGAAGCCTGGC	0.567											OREG0025504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A|||	7	0.00139776	0.0	0.0	5008	,	,		16897	0.0		0.0	False		,,,				2504	0.0072				p.S39S		Atlas-SNP	.											.	CXCL17	8	.	0			c.T117C						.						132.0	114.0	120.0					19																	42937971		2203	4300	6503	SO:0001819	synonymous_variant	284340	exon2			TCTCCTAGAAGCC		CCDS12608.1	19q13.2	2007-10-15				ENSG00000189377			19232	protein-coding gene	gene with protein product		611387				17201934	Standard	NM_198477		Approved	Dcip1, UNQ473, DMC, VCC1	uc002otu.3	Q6UXB2		ENST00000601181.1:c.117T>C	chr19.hg19:g.42937971A>G		46.0	0.0	912	31.0	18.0	NM_198477	A8KAC0	Silent	SNP	ENST00000601181.1	hg19	CCDS12608.1																																																																																			.	.		0.567	CXCL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463872.1		
PSG6	5675	hgsc.bcm.edu	37	19	43412004	43412004	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:43412004T>C	ENST00000292125.2	-	4	753	c.709A>G	c.(709-711)Aag>Gag	p.K237E	PSG6_ENST00000187910.2_Missense_Mutation_p.K237E|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATGGGCAGCTTCGCTGTGTGG	0.493																																					p.K237E		Atlas-SNP	.											.	PSG6	89	.	0			c.A709G						.						224.0	216.0	218.0					19																	43412004		2201	4299	6500	SO:0001583	missense	5675	exon4			GCAGCTTCGCTGT		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.709A>G	chr19.hg19:g.43412004T>C	ENSP00000292125:p.Lys237Glu	39.0	0.0		40.0	24.0	NM_001031850	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	hg19	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	2.564	-0.301221	0.05495	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.30714	1.52;1.54	1.42	-2.12	0.07165	.	.	.	.	.	T	0.07999	0.0200	N	0.00801	-1.175	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.17979	0.004;0.02	T	0.27054	-1.0085	9	0.40728	T	0.16	.	2.4016	0.04402	0.0:0.4139:0.328:0.2581	.	237;237	Q00889;Q00889-2	PSG6_HUMAN;.	E	237	ENSP00000187910:K237E;ENSP00000292125:K237E	ENSP00000187910:K237E	K	-	1	0	PSG6	48103844	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.550000	0.02180	-0.042000	0.13535	0.113000	0.15668	AAG	.	.		0.493	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
ZNF221	7638	hgsc.bcm.edu	37	19	44470227	44470227	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:44470227A>T	ENST00000251269.5	+	6	901	c.573A>T	c.(571-573)tcA>tcT	p.S191S	ZNF221_ENST00000592350.1_Silent_p.S191S|ZNF221_ENST00000587682.1_Silent_p.S191S	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCAACAATCACACTCAGGAG	0.398																																					p.S191S		Atlas-SNP	.											.	ZNF221	59	.	0			c.A573T						.						132.0	125.0	127.0					19																	44470227		2203	4300	6503	SO:0001819	synonymous_variant	7638	exon6			ACAATCACACTCA	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.573A>T	chr19.hg19:g.44470227A>T		86.0	0.0		55.0	23.0	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	hg19	CCDS12633.1																																																																																			.	.		0.398	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF230	7773	hgsc.bcm.edu	37	19	44515114	44515114	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:44515114A>G	ENST00000429154.2	+	5	1151	c.923A>G	c.(922-924)tAc>tGc	p.Y308C		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	308				YKS -> SKC (in Ref. 1; AAB62180). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GAGAAACTGTACAAATCTGAG	0.418																																					p.Y308C	GBM(175;914 2069 22996 47111 52600)	Atlas-SNP	.											.	ZNF230	44	.	0			c.A923G						.						142.0	138.0	139.0					19																	44515114		2203	4300	6503	SO:0001583	missense	7773	exon5			AACTGTACAAATC	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.923A>G	chr19.hg19:g.44515114A>G	ENSP00000409318:p.Tyr308Cys	86.0	0.0		55.0	24.0	NM_006300	O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	hg19	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298105	0.40694	.	.	ENSG00000159882	ENST00000429154	T	0.35973	1.28	2.55	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51958	0.1705	M	0.74647	2.275	0.26113	N	0.98065	D	0.89917	1.0	D	0.75484	0.986	T	0.40496	-0.9560	9	0.87932	D	0	.	2.4498	0.04515	0.4714:0.0:0.1425:0.3861	.	308	Q9UIE0	ZN230_HUMAN	C	308	ENSP00000409318:Y308C	ENSP00000409318:Y308C	Y	+	2	0	ZNF230	49206954	0.000000	0.05858	0.001000	0.08648	0.576000	0.36127	0.321000	0.19558	0.217000	0.20800	0.172000	0.16884	TAC	.	.		0.418	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1		
ZNF224	7767	hgsc.bcm.edu	37	19	44610721	44610721	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:44610721A>T	ENST00000336976.6	+	6	662	c.408A>T	c.(406-408)gcA>gcT	p.A136A	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	136					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGACTGAGGCAGGACTATCTG	0.408																																					p.A136A		Atlas-SNP	.											.	ZNF224	70	.	0			c.A408T						.						96.0	95.0	95.0					19																	44610721		2203	4300	6503	SO:0001819	synonymous_variant	7767	exon6			TGAGGCAGGACTA	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.408A>T	chr19.hg19:g.44610721A>T		71.0	0.0		77.0	38.0	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	hg19	CCDS33046.1																																																																																			.	.		0.408	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF112	7771	hgsc.bcm.edu	37	19	44832441	44832441	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:44832441T>A	ENST00000337401.4	-	5	1975	c.1887A>T	c.(1885-1887)agA>agT	p.R629S	ZNF112_ENST00000354340.4_Missense_Mutation_p.R623S|ZNF112_ENST00000536500.1_Missense_Mutation_p.R646S	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGTGTGGACTCTCTGATGGC	0.463																																					p.R629S		Atlas-SNP	.											.	ZFP112	219	.	0			c.A1887T						.						132.0	131.0	131.0					19																	44832441		2203	4300	6503	SO:0001583	missense	7771	exon5			GTGGACTCTCTGA	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1887A>T	chr19.hg19:g.44832441T>A	ENSP00000337081:p.Arg629Ser	146.0	0.0		113.0	49.0	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	hg19	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	t	16.84	3.235048	0.58886	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.24151	1.87;1.87;1.87	5.0	0.0326	0.14176	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36002	N	0.002854	T	0.37237	0.0996	L	0.58969	1.84	0.29605	N	0.847398	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.969;0.982	T	0.19910	-1.0291	10	0.59425	D	0.04	-29.812	4.7691	0.13146	0.0:0.2399:0.2866:0.4735	.	628;646;629	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	S	629;629;623;646;628	ENSP00000337081:R629S;ENSP00000346305:R623S;ENSP00000441990:R646S	ENSP00000253426:R628S	R	-	3	2	ZNF285	49524281	0.000000	0.05858	0.998000	0.56505	0.996000	0.88848	-0.478000	0.06575	0.016000	0.14998	-0.253000	0.11424	AGA	.	.		0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF112	7771	hgsc.bcm.edu	37	19	44833042	44833042	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:44833042T>G	ENST00000337401.4	-	5	1374	c.1286A>C	c.(1285-1287)aAt>aCt	p.N429T	ZNF112_ENST00000354340.4_Missense_Mutation_p.N423T|ZNF112_ENST00000536500.1_Missense_Mutation_p.N446T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AATGTCAAGATTTGAACTACA	0.368																																					p.N429T		Atlas-SNP	.											.	ZFP112	219	.	0			c.A1286C						.						88.0	86.0	87.0					19																	44833042		2203	4300	6503	SO:0001583	missense	7771	exon5			TCAAGATTTGAAC	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1286A>C	chr19.hg19:g.44833042T>G	ENSP00000337081:p.Asn429Thr	76.0	0.0		82.0	26.0	NM_001083335	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	hg19	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	3.032	-0.199420	0.06219	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.15603	2.41;2.41;2.41	4.73	2.59	0.31030	.	0.682943	0.12076	N	0.501709	T	0.12135	0.0295	L	0.42632	1.34	0.09310	N	1	P;P;B	0.38078	0.483;0.617;0.335	B;B;B	0.31101	0.058;0.124;0.058	T	0.16897	-1.0387	10	0.21540	T	0.41	-5.9597	8.9986	0.36068	0.0:0.1684:0.0:0.8316	.	428;446;429	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	429;429;423;446;428	ENSP00000337081:N429T;ENSP00000346305:N423T;ENSP00000441990:N446T	ENSP00000253426:N428T	N	-	2	0	ZNF285	49524882	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	0.246000	0.18160	0.894000	0.36317	0.459000	0.35465	AAT	.	.		0.368	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
RSPH6A	81492	hgsc.bcm.edu	37	19	46318016	46318016	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:46318016T>A	ENST00000221538.3	-	1	561	c.419A>T	c.(418-420)gAg>gTg	p.E140V	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E140V|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	140						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GACTGGGGGCTCCTGGAAGGT	0.612																																					p.E140V		Atlas-SNP	.											.	RSPH6A	70	.	0			c.A419T						.						41.0	45.0	43.0					19																	46318016		2203	4300	6503	SO:0001583	missense	81492	exon1			GGGGGCTCCTGGA	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.419A>T	chr19.hg19:g.46318016T>A	ENSP00000221538:p.Glu140Val	74.0	0.0		52.0	23.0	NM_030785	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	hg19	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.895000	0.33442	.	.	ENSG00000104941	ENST00000221538	T	0.17054	2.3	4.17	0.703	0.18116	.	2.063930	0.02016	N	0.047438	T	0.12347	0.0300	L	0.27053	0.805	0.09310	N	1	B	0.33073	0.396	B	0.26310	0.068	T	0.22661	-1.0210	10	0.35671	T	0.21	-14.1801	6.8589	0.24056	0.0:0.3047:0.0:0.6953	.	140	Q9H0K4	RSH6A_HUMAN	V	140	ENSP00000221538:E140V	ENSP00000221538:E140V	E	-	2	0	RSPH6A	51009856	0.003000	0.15002	0.031000	0.17742	0.020000	0.10135	0.861000	0.27885	-0.055000	0.13244	0.392000	0.25879	GAG	.	.		0.612	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
ARHGAP35	2909	hgsc.bcm.edu	37	19	47425269	47425269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:47425269C>T	ENST00000404338.3	+	1	3337	c.3337C>T	c.(3337-3339)Caa>Taa	p.Q1113*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1113					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TGACAGCACCCAAGGCAAAAT	0.498																																					p.Q1113X		Atlas-SNP	.											.	.	.	.	0			c.C3337T						.						58.0	56.0	56.0					19																	47425269		2043	4188	6231	SO:0001587	stop_gained	2909	exon1			AGCACCCAAGGCA	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3337C>T	chr19.hg19:g.47425269C>T	ENSP00000385720:p.Gln1113*	154.0	0.0		101.0	43.0	NM_004491	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	hg19	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	42	9.404450	0.99161	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-26.9041	18.7132	0.91666	0.0:1.0:0.0:0.0	.	.	.	.	X	1113	.	ENSP00000324820:Q1113X	Q	+	1	0	ARHGAP35	52117109	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.720000	0.93068	0.655000	0.94253	CAA	.	.		0.498	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
KPTN	11133	hgsc.bcm.edu	37	19	47986778	47986778	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:47986778A>T	ENST00000338134.3	-	2	397	c.290T>A	c.(289-291)gTg>gAg	p.V97E	KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	97					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGTGATCCCCACAACCAGACC	0.582											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V97E		Atlas-SNP	.											.	KPTN	34	.	0			c.T290A						.						31.0	37.0	35.0					19																	47986778		1968	4145	6113	SO:0001583	missense	11133	exon2			ATCCCCACAACCA	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.290T>A	chr19.hg19:g.47986778A>T	ENSP00000337850:p.Val97Glu	110.0	0.0	951	80.0	27.0	NM_007059	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	hg19	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625165	0.87560	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.80296	-0.1442	9	0.87932	D	0	-1.2341	13.3858	0.60795	1.0:0.0:0.0:0.0	.	97	Q9Y664	KPTN_HUMAN	E	97	.	ENSP00000337850:V97E	V	-	2	0	KPTN	52678590	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.438000	0.90305	1.881000	0.54492	0.398000	0.26397	GTG	.	.		0.582	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2		
ELSPBP1	64100	hgsc.bcm.edu	37	19	48519284	48519284	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:48519284T>G	ENST00000339841.2	+	4	521	c.343T>G	c.(343-345)Tgt>Ggt	p.C115G	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	115	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GTGGAAATTCTGTGAAACGAA	0.547																																					p.C115G		Atlas-SNP	.											.	ELSPBP1	29	.	0			c.T343G						.						131.0	111.0	118.0					19																	48519284		2203	4300	6503	SO:0001583	missense	64100	exon4			AAATTCTGTGAAA	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.343T>G	chr19.hg19:g.48519284T>G	ENSP00000340660:p.Cys115Gly	82.0	0.0		57.0	19.0	NM_022142	Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	hg19	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258236	0.39896	.	.	ENSG00000169393	ENST00000339841	D	0.91996	-2.95	3.55	3.55	0.40652	Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);	0.000000	0.50627	D	0.000110	D	0.96781	0.8949	H	0.96111	3.77	0.38260	D	0.94185	D	0.89917	1.0	D	0.87578	0.998	D	0.97225	0.9880	10	0.72032	D	0.01	.	9.0552	0.36401	0.0:0.0:0.0:1.0	.	115	Q96BH3	ESPB1_HUMAN	G	115	ENSP00000340660:C115G	ENSP00000340660:C115G	C	+	1	0	ELSPBP1	53211096	0.992000	0.36948	0.980000	0.43619	0.459000	0.32528	1.295000	0.33377	1.549000	0.49425	0.443000	0.29094	TGT	.	.		0.547	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1		
PLA2G4C	8605	hgsc.bcm.edu	37	19	48551611	48551611	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:48551611A>C	ENST00000599921.1	-	17	1972	c.1615T>G	c.(1615-1617)Tgc>Ggc	p.C539G	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.C549G|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.C539G|PLA2G4C_ENST00000354276.3_3'UTR			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	539	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TATGCCAAGCAGCAACTTCGG	0.532																																					p.C549G		Atlas-SNP	.											.	PLA2G4C	76	.	0			c.T1645G						.						107.0	82.0	90.0					19																	48551611		2203	4300	6503	SO:0001583	missense	8605	exon17			CCAAGCAGCAACT	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1615T>G	chr19.hg19:g.48551611A>C	ENSP00000469473:p.Cys539Gly	44.0	0.0		40.0	24.0	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	hg19	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	A	1.059	-0.673604	0.03403	.	.	ENSG00000105499	ENST00000413144	T	0.02369	4.32	1.66	0.579	0.17397	Lysophospholipase, catalytic domain (1);	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46952	-0.9154	9	0.46703	T	0.11	1.5938	3.0786	0.06254	0.7175:0.0:0.2825:0.0	.	549;539	B4DI40;Q9UP65	.;PA24C_HUMAN	G	539	ENSP00000400036:C539G	ENSP00000400036:C539G	C	-	1	0	PLA2G4C	53243423	0.188000	0.23250	0.011000	0.14972	0.032000	0.12392	0.256000	0.18351	0.124000	0.18369	0.332000	0.21555	TGC	.	.		0.532	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
FGF21	26291	hgsc.bcm.edu	37	19	49261303	49261303	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:49261303A>T	ENST00000593756.1	+	4	1028	c.456A>T	c.(454-456)ccA>ccT	p.P152P	FGF21_ENST00000222157.3_Silent_p.P152P|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	152					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACAAGTCCCCACACCGGGACC	0.682																																					p.P152P		Atlas-SNP	.											.	FGF21	21	.	0			c.A456T						.						42.0	50.0	47.0					19																	49261303		2203	4298	6501	SO:0001819	synonymous_variant	26291	exon3			GTCCCCACACCGG	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.456A>T	chr19.hg19:g.49261303A>T		188.0	0.0		164.0	59.0	NM_019113	Q8N683	Silent	SNP	ENST00000593756.1	hg19	CCDS12734.1																																																																																			.	.		0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1		
GYS1	2997	hgsc.bcm.edu	37	19	49473817	49473817	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:49473817T>C	ENST00000323798.3	-	14	1991	c.1795A>G	c.(1795-1797)Aaa>Gaa	p.K599E	GYS1_ENST00000263276.6_Missense_Mutation_p.K535E|GYS1_ENST00000544287.1_Missense_Mutation_p.K232E|GYS1_ENST00000541188.1_Missense_Mutation_p.K519E	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	599					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTAGGTATTTCCAGTCCAGA	0.602											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K599E		Atlas-SNP	.											.	GYS1	59	.	0			c.A1795G						.						31.0	36.0	34.0					19																	49473817		2203	4300	6503	SO:0001583	missense	2997	exon14			GGTATTTCCAGTC		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1795A>G	chr19.hg19:g.49473817T>C	ENSP00000317904:p.Lys599Glu	59.0	0.0	962	51.0	27.0	NM_002103	Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	hg19	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361226	0.61403	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.19	5.19	0.71726	.	0.045321	0.85682	D	0.000000	T	0.61565	0.2357	L	0.31926	0.97	0.80722	D	1	B;B;P	0.50066	0.021;0.128;0.931	B;B;P	0.46510	0.033;0.099;0.519	T	0.66791	-0.5834	10	0.72032	D	0.01	-19.5254	13.2988	0.60313	0.0:0.0:0.0:1.0	.	519;535;599	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	E	599;535;519;232	ENSP00000317904:K599E;ENSP00000263276:K535E;ENSP00000437922:K519E;ENSP00000444004:K232E	ENSP00000263276:K535E	K	-	1	0	GYS1	54165629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.109000	0.64355	0.459000	0.35465	AAA	.	.		0.602	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103	
TRPM4	54795	hgsc.bcm.edu	37	19	49703938	49703938	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:49703938G>T	ENST00000252826.5	+	19	2975	c.2849G>T	c.(2848-2850)gGg>gTg	p.G950V	TRPM4_ENST00000427978.2_Missense_Mutation_p.G805V|TRPM4_ENST00000355712.5_Missense_Mutation_p.G596V	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	950					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCACGGAGGGGCTCCTGAGG	0.612																																					p.G950V		Atlas-SNP	.											.	TRPM4	119	.	0			c.G2849T						.						54.0	52.0	53.0					19																	49703938		2203	4300	6503	SO:0001583	missense	54795	exon19			CGGAGGGGCTCCT	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2849G>T	chr19.hg19:g.49703938G>T	ENSP00000252826:p.Gly950Val	45.0	0.0		41.0	17.0	NM_017636	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	hg19	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069144	0.55539	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.64803	-0.12;-0.12;-0.12	4.57	3.54	0.40534	.	0.060880	0.64402	D	0.000005	T	0.69993	0.3173	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.76494	0.993;0.992;0.992;0.999	D;P;P;D	0.72982	0.955;0.856;0.856;0.979	T	0.71961	-0.4434	10	0.87932	D	0	-27.9137	11.4642	0.50227	0.0907:0.0:0.9092:0.0	.	596;776;805;950	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	V	950;805;596	ENSP00000252826:G950V;ENSP00000407492:G805V;ENSP00000347944:G596V	ENSP00000252826:G950V	G	+	2	0	TRPM4	54395750	1.000000	0.71417	0.996000	0.52242	0.494000	0.33585	3.411000	0.52672	1.061000	0.40601	0.313000	0.20887	GGG	.	.		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	
SCAF1	58506	hgsc.bcm.edu	37	19	50154181	50154181	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:50154181A>C	ENST00000360565.3	+	7	659	c.535A>C	c.(535-537)Acg>Ccg	p.T179P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	179					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CACCTTGGGCACGGGAGACGG	0.667																																					p.T179P		Atlas-SNP	.											.	SCAF1	78	.	0			c.A535C						.						33.0	25.0	28.0					19																	50154181		2203	4299	6502	SO:0001583	missense	58506	exon7			TTGGGCACGGGAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.535A>C	chr19.hg19:g.50154181A>C	ENSP00000353769:p.Thr179Pro	76.0	0.0		65.0	20.0	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	hg19	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	a	10.87	1.471260	0.26423	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.37584	1.19	4.42	4.42	0.53409	.	0.547159	0.15489	N	0.259696	T	0.35941	0.0949	N	0.19112	0.55	0.23776	N	0.99687	D	0.64830	0.994	P	0.59889	0.865	T	0.09271	-1.0682	10	0.35671	T	0.21	-2.173	7.529	0.27672	0.8087:0.0:0.0:0.1913	.	179	Q9H7N4	SFR19_HUMAN	P	179	ENSP00000353769:T179P	ENSP00000353769:T179P	T	+	1	0	SCAF1	54845993	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	2.225000	0.42954	2.002000	0.58637	0.525000	0.51046	ACG	.	.		0.667	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
SIGLEC11	114132	hgsc.bcm.edu	37	19	50453266	50453266	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:50453266A>T	ENST00000447370.2	-	11	2148	c.2058T>A	c.(2056-2058)ctT>ctA	p.L686L	SIGLEC11_ENST00000426971.2_Silent_p.L590L|U3_ENST00000408198.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	686					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCTCCAATTGAAGCCCAAAGC	0.612																																					p.L686L		Atlas-SNP	.											.	SIGLEC11	70	.	0			c.T2058A						.						33.0	30.0	31.0					19																	50453266		2202	4300	6502	SO:0001819	synonymous_variant	114132	exon11			CAATTGAAGCCCA	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.2058T>A	chr19.hg19:g.50453266A>T		99.0	0.0		71.0	27.0	NM_052884		Silent	SNP	ENST00000447370.2	hg19	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	2.794	-0.250723	0.05867	.	.	ENSG00000161640	ENST00000426971	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.20926	N	0.999821	.	.	.	.	.	.	T	0.20009	-1.0288	4	.	.	.	.	6.9775	0.24683	1.0:0.0:0.0:0.0	.	.	.	.	Y	580	.	.	F	-	2	0	SIGLEC11	55145078	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.576000	0.05854	1.044000	0.40200	0.459000	0.35465	TTC	.	.		0.612	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
NAPSA	9476	hgsc.bcm.edu	37	19	50861904	50861904	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:50861904A>C	ENST00000253719.2	-	9	1377	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	390					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GCTGCTCTTCATGTCCCCGCG	0.697																																					p.M390R		Atlas-SNP	.											.	NAPSA	38	.	0			c.T1169G						.						19.0	20.0	20.0					19																	50861904		2200	4299	6499	SO:0001583	missense	9476	exon9			CTCTTCATGTCCC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1169T>G	chr19.hg19:g.50861904A>C	ENSP00000253719:p.Met390Arg	108.0	0.0		68.0	30.0	NM_004851	Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	hg19	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.935602	0.00484	.	.	ENSG00000131400	ENST00000253719	T	0.27890	1.64	2.58	-5.17	0.02849	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.002540	0.08040	N	0.995041	T	0.07954	0.0199	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09796	-1.0658	10	0.15952	T	0.53	.	0.3384	0.00329	0.2436:0.2486:0.1487:0.359	.	390	O96009	NAPSA_HUMAN	R	390	ENSP00000253719:M390R	ENSP00000253719:M390R	M	-	2	0	NAPSA	55553716	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.727000	0.01860	-3.659000	0.00125	-2.160000	0.00327	ATG	.	.		0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851	
SHANK1	50944	hgsc.bcm.edu	37	19	51189492	51189492	+	Splice_Site	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:51189492A>G	ENST00000293441.1	-	20	2596		c.e20+1		SHANK1_ENST00000359082.3_Splice_Site|SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000391813.1_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGGCCGCCTACCTCAGTGGC	0.612																																					.		Atlas-SNP	.											.	SHANK1	210	.	0			c.2577+2T>C						.						58.0	51.0	54.0					19																	51189492		2203	4300	6503	SO:0001630	splice_region_variant	50944	exon21			CCGCCTACCTCAG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2577+1T>C	chr19.hg19:g.51189492A>G		45.0	0.0		19.0	9.0	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Splice_Site	SNP	ENST00000293441.1	hg19	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.953199	0.53293	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8749	0.52541	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHANK1	55881304	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	6.734000	0.74801	1.725000	0.51514	0.247000	0.18012	.	.	.		0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	Intron
SIGLECL1	284369	hgsc.bcm.edu	37	19	51768725	51768725	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:51768725A>T	ENST00000316401.7	+	3	507	c.126A>T	c.(124-126)ggA>ggT	p.G42G	SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	416	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GGTGGATGGGAGGAGTCCCCG	0.577																																					p.G42G		Atlas-SNP	.											.	.	.	.	0			c.A126T						.						80.0	72.0	75.0					19																	51768725		2203	4300	6503	SO:0001819	synonymous_variant	284369	exon3			GATGGGAGGAGTC	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.126A>T	chr19.hg19:g.51768725A>T		116.0	0.0		87.0	34.0	NM_173635	Q8IYH7	Silent	SNP	ENST00000316401.7	hg19	CCDS12827.1																																																																																			.	.		0.577	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
IGLON5	402665	hgsc.bcm.edu	37	19	51828607	51828607	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:51828607C>A	ENST00000270642.8	+	4	399	c.399C>A	c.(397-399)gcC>gcA	p.A133A		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	133	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						CAGTCCCTGCCCGCATTGTGA	0.652																																					p.A133A		Atlas-SNP	.											.	IGLON5	31	.	0			c.C399A						.						29.0	33.0	31.0					19																	51828607		2103	4221	6324	SO:0001819	synonymous_variant	402665	exon4			CCCTGCCCGCATT		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.399C>A	chr19.hg19:g.51828607C>A		61.0	0.0		46.0	21.0	NM_001101372		Silent	SNP	ENST00000270642.8	hg19	CCDS46158.1																																																																																			.	.		0.652	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372	
SIGLEC8	27181	hgsc.bcm.edu	37	19	51958812	51958812	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:51958812G>A	ENST00000321424.3	-	4	977	c.911C>T	c.(910-912)cCc>cTc	p.P304L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P211L|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P195L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	304	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGACCGTGAGGGGCACAGGGT	0.642																																					p.P304L		Atlas-SNP	.											.	SIGLEC8	130	.	0			c.C911T						.						50.0	49.0	49.0					19																	51958812		2203	4300	6503	SO:0001583	missense	27181	exon4			CGTGAGGGGCACA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.911C>T	chr19.hg19:g.51958812G>A	ENSP00000321077:p.Pro304Leu	73.0	0.0		46.0	26.0	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	hg19	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.81	2.347646	0.41599	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.13538	2.58;2.58;2.58	2.19	2.19	0.27852	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.673556	0.12250	N	0.485707	T	0.15003	0.0362	L	0.55743	1.74	0.09310	N	0.999997	P;P;P	0.40731	0.728;0.537;0.624	B;B;B	0.40901	0.223;0.343;0.3	T	0.12578	-1.0542	10	0.66056	D	0.02	.	7.9807	0.30181	0.0:0.0:1.0:0.0	.	195;211;304	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	195;304;211	ENSP00000389142:P195L;ENSP00000321077:P304L;ENSP00000339448:P211L	ENSP00000321077:P304L	P	-	2	0	SIGLEC8	56650624	0.001000	0.12720	0.053000	0.19242	0.125000	0.20455	0.575000	0.23729	1.533000	0.49186	0.502000	0.49764	CCC	.	.		0.642	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
SIGLEC12	89858	hgsc.bcm.edu	37	19	52003208	52003208	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:52003208G>T	ENST00000291707.3	-	2	829	c.774C>A	c.(772-774)aaC>aaA	p.N258K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.N140K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	258	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CATATATGTAGTTCCATTTCC	0.552																																					p.N258K		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.C774A						.						91.0	77.0	82.0					19																	52003208		2203	4300	6503	SO:0001583	missense	89858	exon2			TATGTAGTTCCAT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.774C>A	chr19.hg19:g.52003208G>T	ENSP00000291707:p.Asn258Lys	85.0	0.0		60.0	29.0	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	hg19	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	8.740	0.918641	0.17982	.	.	ENSG00000254521	ENST00000291707	T	0.68025	-0.3	0.673	-0.465	0.12157	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.618720	0.13110	U	0.413012	T	0.77116	0.4083	M	0.84082	2.675	0.09310	N	1	D;P	0.89917	1.0;0.941	D;P	0.64237	0.923;0.608	T	0.65274	-0.6208	9	0.66056	D	0.02	.	.	.	.	.	258;140	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	K	258	ENSP00000291707:N258K	ENSP00000291707:N258K	N	-	3	2	SIGLEC12	56695020	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.079000	0.11357	-0.134000	0.11516	0.503000	0.49774	AAC	.	.		0.552	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
SIGLEC12	89858	hgsc.bcm.edu	37	19	52004872	52004872	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:52004872C>A	ENST00000291707.3	-	1	171	c.116G>T	c.(115-117)tGt>tTt	p.C39F	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	39	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGAGACACACAGGCCCTC	0.587																																					p.C39F		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.G116T						.						111.0	83.0	93.0					19																	52004872		2203	4300	6503	SO:0001583	missense	89858	exon1			GAGACACACAGGC	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.116G>T	chr19.hg19:g.52004872C>A	ENSP00000291707:p.Cys39Phe	88.0	0.0		50.0	22.0	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	hg19	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.371512	0.61624	.	.	ENSG00000254521	ENST00000291707	T	0.65178	-0.14	2.09	2.09	0.27110	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82742	0.5103	H	0.96080	3.765	0.26366	N	0.976962	D	0.89917	1.0	D	0.80764	0.994	T	0.70400	-0.4882	9	0.87932	D	0	.	7.6643	0.28421	0.0:1.0:0.0:0.0	.	39	Q96PQ1	SIG12_HUMAN	F	39	ENSP00000291707:C39F	ENSP00000291707:C39F	C	-	2	0	SIGLEC12	56696684	0.390000	0.25213	0.942000	0.38095	0.723000	0.41478	0.691000	0.25467	1.173000	0.42796	0.503000	0.49774	TGT	.	.		0.587	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
SIGLEC6	946	hgsc.bcm.edu	37	19	52023460	52023460	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:52023460T>A	ENST00000425629.3	-	8	1392	c.1238A>T	c.(1237-1239)gAg>gTg	p.E413V	CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_Nonstop_Mutation_p.*354C|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.E397V|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E361V|SIGLEC6_ENST00000391797.3_Nonstop_Mutation_p.*343C	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	413					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGCCAGCCTCAGCAGGGTG	0.507																																					p.X354C		Atlas-SNP	.											.	SIGLEC6	142	.	0			c.A1062T						.						206.0	198.0	200.0					19																	52023460		1984	4166	6150	SO:0001583	missense	946	exon6			CCAGCCTCAGCAG	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1238A>T	chr19.hg19:g.52023460T>A	ENSP00000401502:p.Glu413Val	73.0	0.0		49.0	17.0	NM_198846	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	hg19	CCDS12834.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.023|0.023	-1.404729|-1.404729	0.01155|0.01155	.|.	.|.	ENSG00000105492|ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458|ENST00000343300	T;T|.	0.50548|.	1.17;0.74|.	2.57|2.57	-5.13|-5.13	0.02884|0.02884	.|.	.|.	.|.	.|.	.|.	T|.	0.18299|.	0.0439|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|.	0.31837|.	0.001;0.342;0.005|.	B;B;B|.	0.34385|.	0.002;0.181;0.005|.	T|.	0.24190|.	-1.0167|.	8|.	0.54805|.	T|.	0.06|.	.|.	2.9982|2.9982	0.06005|0.06005	0.3171:0.2772:0.0:0.4056|0.3171:0.2772:0.0:0.4056	.|.	361;397;413|.	C9JBE5;O43699-3;O43699|.	.;.;SIGL6_HUMAN|.	V|C	386;397;413;361|354	ENSP00000401502:E413V;ENSP00000410679:E361V|.	ENSP00000344064:E386V|.	E|X	-|-	2|3	0|0	SIGLEC6|SIGLEC6	56715272|56715272	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.266000|-1.266000	0.02842|0.02842	-1.398000|-1.398000	0.02066|0.02066	-1.333000|-1.333000	0.01266|0.01266	GAG|TGA	.	.		0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
FPR1	2357	hgsc.bcm.edu	37	19	52249744	52249744	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:52249744A>T	ENST00000595042.1	-	3	645	c.504T>A	c.(502-504)ccT>ccA	p.P168P	FPR1_ENST00000304748.4_Silent_p.P168P	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	168					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCGTTTTACCAGGTACTGTAG	0.532																																					p.P168P		Atlas-SNP	.											.	FPR1	64	.	0			c.T504A						.						83.0	78.0	80.0					19																	52249744		2203	4300	6503	SO:0001819	synonymous_variant	2357	exon3			TTTACCAGGTACT	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.504T>A	chr19.hg19:g.52249744A>T		54.0	0.0		48.0	24.0	NM_001193306	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	hg19	CCDS12839.1																																																																																			.	.		0.532	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
ZNF347	84671	hgsc.bcm.edu	37	19	53644359	53644359	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:53644359A>G	ENST00000334197.7	-	5	1790	c.1722T>C	c.(1720-1722)tgT>tgC	p.C574C	ZNF347_ENST00000601469.2_Silent_p.C575C|ZNF347_ENST00000452676.2_Silent_p.C575C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGACCTTGCCACACTCATTAC	0.418																																					p.C575C	Melanoma(64;205 1597 17324 45721)	Atlas-SNP	.											.	ZNF347	87	.	0			c.T1725C						.						153.0	145.0	148.0					19																	53644359		2203	4298	6501	SO:0001819	synonymous_variant	84671	exon5			CTTGCCACACTCA	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1722T>C	chr19.hg19:g.53644359A>G		66.0	0.0		37.0	17.0	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	hg19	CCDS33097.1																																																																																			.	.		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF677	342926	hgsc.bcm.edu	37	19	53741010	53741010	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:53741010A>C	ENST00000598513.1	-	5	1120	c.970T>G	c.(970-972)Tgt>Ggt	p.C324G	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.C324G	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	324					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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACCTTGCCACATATATTACAT	0.388																																					p.C324G		Atlas-SNP	.											.	ZNF677	94	.	0			c.T970G						.						113.0	104.0	107.0					19																	53741010		2203	4300	6503	SO:0001583	missense	342926	exon5			TGCCACATATATT	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.970T>G	chr19.hg19:g.53741010A>C	ENSP00000469391:p.Cys324Gly	99.0	0.0		72.0	40.0	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	hg19	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845002	0.51164	.	.	ENSG00000197928	ENST00000333952	D	0.85861	-2.04	2.21	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36409	N	0.002611	D	0.89945	0.6862	H	0.98883	4.36	0.30915	N	0.728634	B	0.23249	0.082	B	0.30029	0.11	D	0.86334	0.1700	10	0.66056	D	0.02	.	6.6411	0.22909	0.7561:0.2439:0.0:0.0	.	324	Q86XU0	ZN677_HUMAN	G	324	ENSP00000334394:C324G	ENSP00000334394:C324G	C	-	1	0	ZNF677	58432822	1.000000	0.71417	0.448000	0.26945	0.892000	0.51952	5.974000	0.70465	0.288000	0.22398	0.533000	0.62120	TGT	.	.		0.388	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
BIRC8	112401	hgsc.bcm.edu	37	19	53793261	53793261	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:53793261A>T	ENST00000426466.1	-	1	1614	c.367T>A	c.(367-369)Ttt>Att	p.F123I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	123					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTGAAATCAAATCCCATTCGT	0.388																																					p.F123I		Atlas-SNP	.											.	BIRC8	54	.	0			c.T367A						.						185.0	181.0	182.0					19																	53793261		2203	4300	6503	SO:0001583	missense	112401	exon1			AATCAAATCCCAT	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.367T>A	chr19.hg19:g.53793261A>T	ENSP00000412957:p.Phe123Ile	118.0	0.0		93.0	39.0	NM_033341	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	hg19	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754010	0.49362	.	.	ENSG00000163098	ENST00000426466	T	0.39406	1.08	0.502	0.502	0.16932	.	.	.	.	.	T	0.52629	0.1746	M	0.79475	2.455	0.45791	D	0.998673	D	0.65815	0.995	P	0.59221	0.854	T	0.51702	-0.8672	9	0.44086	T	0.13	-5.0451	5.4107	0.16346	0.9999:0.0:1.0E-4:0.0	.	123	Q96P09	BIRC8_HUMAN	I	123	ENSP00000412957:F123I	ENSP00000412957:F123I	F	-	1	0	BIRC8	58485073	0.934000	0.31675	0.016000	0.15963	0.010000	0.07245	1.909000	0.39917	0.486000	0.27676	0.344000	0.21773	TTT	.	.		0.388	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
DPRX	503834	hgsc.bcm.edu	37	19	54139945	54139945	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:54139945T>A	ENST00000376650.1	+	3	330	c.279T>A	c.(277-279)ggT>ggA	p.G93G		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G93G(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TACCAGAGGGTGGGGTCTCCA	0.512																																					p.G93G		Atlas-SNP	.											DPRX,NS,carcinoma,0,1	DPRX	34	.	1	Substitution - coding silent(1)	endometrium(1)	c.T279A						.						97.0	87.0	91.0					19																	54139945		2203	4300	6503	SO:0001819	synonymous_variant	503834	exon3			AGAGGGTGGGGTC		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.279T>A	chr19.hg19:g.54139945T>A		98.0	0.0		65.0	25.0	NM_001012728		Silent	SNP	ENST00000376650.1	hg19	CCDS33103.1																																																																																			.	.		0.512	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	
PRKCG	5582	hgsc.bcm.edu	37	19	54401219	54401219	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:54401219C>A	ENST00000263431.3	+	10	1228	c.946C>A	c.(946-948)Cgg>Agg	p.R316R	PRKCG_ENST00000542049.1_Silent_p.R203R|PRKCG_ENST00000540413.1_Silent_p.R316R|PRKCG_ENST00000536044.1_Nonsense_Mutation_p.C286*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	316				RVRM -> VSRT (in Ref. 5; AAA60102). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACAGCGGGTGCGGATGGGccc	0.587																																					p.R316R		Atlas-SNP	.											.	PRKCG	246	.	0			c.C946A						.						108.0	111.0	110.0					19																	54401219		2203	4300	6503	SO:0001819	synonymous_variant	5582	exon10			CGGGTGCGGATGG	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.946C>A	chr19.hg19:g.54401219C>A		57.0	0.0		38.0	22.0	NM_002739	B7Z8Q0	Silent	SNP	ENST00000263431.3	hg19	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112960	0.98070	.	.	ENSG00000126583	ENST00000536044	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.2693	0.66143	0.0:1.0:0.0:0.0	.	.	.	.	X	286	.	ENSP00000440541:C286X	C	+	3	2	PRKCG	59093031	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.618000	0.36954	2.530000	0.85305	0.484000	0.47621	TGC	.	.		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
CACNG7	59284	hgsc.bcm.edu	37	19	54444786	54444786	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:54444786A>C	ENST00000391767.1	+	5	699	c.487A>C	c.(487-489)Agg>Cgg	p.R163R	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.R163R|CACNG7_ENST00000222212.2_Silent_p.R163R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	163					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGTCATGAACAGGCCCAGCAG	0.557																																					p.R163R		Atlas-SNP	.											.	CACNG7	58	.	0			c.A487C						.						161.0	137.0	145.0					19																	54444786		2203	4300	6503	SO:0001819	synonymous_variant	59284	exon4			ATGAACAGGCCCA	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.487A>C	chr19.hg19:g.54444786A>C		67.0	0.0		55.0	30.0	NM_031896	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	hg19	CCDS12868.1																																																																																			.	.		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		
NLRP2	55655	hgsc.bcm.edu	37	19	55497556	55497556	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55497556C>A	ENST00000543010.1	+	8	2382	c.2239C>A	c.(2239-2241)Ctc>Atc	p.L747I	NLRP2_ENST00000448584.2_Missense_Mutation_p.L747I|NLRP2_ENST00000538819.1_Missense_Mutation_p.L723I|NLRP2_ENST00000263437.6_Missense_Mutation_p.L744I|NLRP2_ENST00000391721.4_Missense_Mutation_p.L723I|NLRP2_ENST00000339757.7_Missense_Mutation_p.L725I|NLRP2_ENST00000427260.2_Missense_Mutation_p.L724I|NLRP2_ENST00000537859.1_Missense_Mutation_p.L725I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	747					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCATCGGAACCTCTGCCTAGC	0.443																																					p.L747I		Atlas-SNP	.											.	NLRP2	161	.	0			c.C2239A						.						119.0	94.0	103.0					19																	55497556		2203	4300	6503	SO:0001583	missense	55655	exon8			CGGAACCTCTGCC	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2239C>A	chr19.hg19:g.55497556C>A	ENSP00000445135:p.Leu747Ile	97.0	0.0		91.0	38.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932335	0.18131	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21;0.21	2.65	-2.22	0.06952	.	0.768134	0.10716	N	0.642357	T	0.60599	0.2281	M	0.65975	2.015	0.09310	N	0.999997	P;D;P;D;P	0.58268	0.945;0.982;0.945;0.982;0.945	P;P;P;P;P	0.56751	0.643;0.805;0.643;0.805;0.643	T	0.51756	-0.8665	10	0.41790	T	0.15	.	3.3665	0.07206	0.2098:0.4303:0.0:0.3599	.	724;725;744;723;747	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	I	747;723;725;747;725;724;723;744	ENSP00000445135:L747I;ENSP00000375601:L723I;ENSP00000344074:L725I;ENSP00000409370:L747I;ENSP00000440601:L725I;ENSP00000402474:L724I;ENSP00000441133:L723I;ENSP00000263437:L744I	ENSP00000263437:L744I	L	+	1	0	NLRP2	60189368	0.041000	0.20044	0.014000	0.15608	0.008000	0.06430	-0.144000	0.10280	-0.652000	0.05408	-0.312000	0.09012	CTC	.	.		0.443	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP2	55655	hgsc.bcm.edu	37	19	55505725	55505725	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55505725G>T	ENST00000543010.1	+	11	2940	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	NLRP2_ENST00000448584.2_Missense_Mutation_p.G933W|NLRP2_ENST00000538819.1_Missense_Mutation_p.G909W|NLRP2_ENST00000263437.6_Missense_Mutation_p.G930W|NLRP2_ENST00000391721.4_Missense_Mutation_p.G909W|NLRP2_ENST00000339757.7_Missense_Mutation_p.G911W|NLRP2_ENST00000427260.2_Missense_Mutation_p.G910W|NLRP2_ENST00000537859.1_Missense_Mutation_p.G911W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	933					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTGGATCTGGGGCTGAATCA	0.443																																					p.G933W		Atlas-SNP	.											.	NLRP2	161	.	0			c.G2797T						.						197.0	169.0	179.0					19																	55505725		2203	4300	6503	SO:0001583	missense	55655	exon11			GATCTGGGGCTGA	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2797G>T	chr19.hg19:g.55505725G>T	ENSP00000445135:p.Gly933Trp	107.0	0.0		95.0	52.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922669	0.33908	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	2.48	1.43	0.22495	.	.	.	.	.	T	0.69196	0.3084	M	0.84948	2.725	0.09310	N	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.998	T	0.54186	-0.8331	9	0.42905	T	0.14	.	5.1988	0.15252	0.1695:0.0:0.8305:0.0	.	910;911;930;909;933	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	W	933;909;911;933;911;910;909;930	ENSP00000445135:G933W;ENSP00000375601:G909W;ENSP00000344074:G911W;ENSP00000409370:G933W;ENSP00000440601:G911W;ENSP00000402474:G910W;ENSP00000441133:G909W;ENSP00000263437:G930W	ENSP00000263437:G930W	G	+	1	0	NLRP2	60197537	0.981000	0.34729	0.147000	0.22382	0.012000	0.07955	0.923000	0.28757	0.595000	0.29777	0.561000	0.74099	GGG	.	.		0.443	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP2	55655	hgsc.bcm.edu	37	19	55505788	55505788	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55505788T>C	ENST00000543010.1	+	11	3003	c.2860T>C	c.(2860-2862)Tgc>Cgc	p.C954R	NLRP2_ENST00000448584.2_Missense_Mutation_p.C954R|NLRP2_ENST00000538819.1_Missense_Mutation_p.C930R|NLRP2_ENST00000263437.6_Missense_Mutation_p.C951R|NLRP2_ENST00000391721.4_Missense_Mutation_p.C930R|NLRP2_ENST00000339757.7_Missense_Mutation_p.C932R|NLRP2_ENST00000427260.2_Missense_Mutation_p.C931R|NLRP2_ENST00000537859.1_Missense_Mutation_p.C932R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	954					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAACCACTGTGCAACTTGAG	0.413																																					p.C954R		Atlas-SNP	.											.	NLRP2	161	.	0			c.T2860C						.						180.0	150.0	161.0					19																	55505788		2203	4300	6503	SO:0001583	missense	55655	exon11			CCACTGTGCAACT	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2860T>C	chr19.hg19:g.55505788T>C	ENSP00000445135:p.Cys954Arg	84.0	0.0		87.0	44.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	hg19	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901200	0.33535	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	2.47	2.47	0.30058	.	.	.	.	.	T	0.71022	0.3291	M	0.92691	3.335	0.09310	N	0.999991	D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;0.999	D;D;D;D;D	0.80764	0.985;0.994;0.969;0.994;0.985	T	0.57849	-0.7740	9	0.62326	D	0.03	.	6.8412	0.23963	0.0:0.0:0.0:1.0	.	931;932;951;930;954	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	954;930;932;954;932;931;930;951	ENSP00000445135:C954R;ENSP00000375601:C930R;ENSP00000344074:C932R;ENSP00000409370:C954R;ENSP00000440601:C932R;ENSP00000402474:C931R;ENSP00000441133:C930R;ENSP00000263437:C951R	ENSP00000263437:C951R	C	+	1	0	NLRP2	60197600	0.027000	0.19231	0.011000	0.14972	0.176000	0.22953	1.154000	0.31688	1.370000	0.46153	0.454000	0.30748	TGC	.	.		0.413	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
GP6	51206	hgsc.bcm.edu	37	19	55538983	55538983	+	Missense_Mutation	SNP	C	C	A	rs41301959		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55538983C>A	ENST00000417454.1	-	4	600	c.573G>T	c.(571-573)tgG>tgT	p.W191C	GP6_ENST00000333884.2_Missense_Mutation_p.W191C|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.W191C|CTC-550B14.6_ENST00000585492.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	191	Ig-like C2-type 2.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGGGGGCTGACCACAGGTATG	0.572																																					p.W191C		Atlas-SNP	.											.	GP6	55	.	0			c.G573T						.						54.0	60.0	58.0					19																	55538983		1952	4182	6134	SO:0001583	missense	51206	exon4			GGCTGACCACAGG	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.573G>T	chr19.hg19:g.55538983C>A	ENSP00000394922:p.Trp191Cys	78.0	0.0		56.0	34.0	NM_016363	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	hg19	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585543	0.46110	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.00902	5.56;5.56;5.56	3.99	3.99	0.46301	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07188	0.0182	M	0.92077	3.27	0.49915	D	0.999839	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.77004	0.892;0.983;0.989	T	0.00409	-1.1757	9	0.66056	D	0.02	.	11.8426	0.52364	0.0:1.0:0.0:0.0	.	191;191;191	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	C	191	ENSP00000394922:W191C;ENSP00000308782:W191C;ENSP00000334552:W191C	ENSP00000308782:W191C	W	-	3	0	GP6	60230795	0.998000	0.40836	0.998000	0.56505	0.153000	0.21895	2.109000	0.41863	2.262000	0.75019	0.555000	0.69702	TGG	.	.		0.572	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		
RDH13	112724	hgsc.bcm.edu	37	19	55556516	55556516	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55556516T>C	ENST00000415061.3	-	7	1065	c.922A>G	c.(922-924)Agg>Ggg	p.R308G	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|RDH13_ENST00000396247.3_Missense_Mutation_p.R237G|CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000592423.1_5'Flank	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	308					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GCCCAAAGCCTCCGGGCCACC	0.627																																					p.R308G		Atlas-SNP	.											.	RDH13	43	.	0			c.A922G						.						29.0	34.0	32.0					19																	55556516		1881	4102	5983	SO:0001583	missense	112724	exon7			AAAGCCTCCGGGC		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.922A>G	chr19.hg19:g.55556516T>C	ENSP00000391121:p.Arg308Gly	119.0	0.0		80.0	21.0	NM_001145971	Q6UX79|Q96G88	Missense_Mutation	SNP	ENST00000415061.3	hg19	CCDS54320.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669286	0.29604	.	.	ENSG00000160439	ENST00000415061;ENST00000396247	T;T	0.68624	-0.34;-0.34	4.61	2.46	0.29980	NAD(P)-binding domain (1);	0.095561	0.64402	D	0.000001	T	0.60599	0.2281	M	0.70903	2.155	0.29053	N	0.884387	P	0.38922	0.651	B	0.33521	0.165	T	0.59595	-0.7425	10	0.62326	D	0.03	.	10.0938	0.42462	0.0:0.0:0.3226:0.6773	.	308	Q8NBN7	RDH13_HUMAN	G	308;237	ENSP00000391121:R308G;ENSP00000379547:R237G	ENSP00000379547:R237G	R	-	1	2	RDH13	60248328	0.800000	0.28916	0.988000	0.46212	0.593000	0.36681	1.257000	0.32932	0.342000	0.23796	-0.940000	0.02684	AGG	.	.		0.627	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451470.1	NM_138412	
SYT5	6861	hgsc.bcm.edu	37	19	55689571	55689571	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:55689571A>G	ENST00000354308.3	-	3	614	c.245T>C	c.(244-246)aTa>aCa	p.I82T	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.I82T|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	82					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTGTCTATGTAACTCTG	0.642																																					p.I82T		Atlas-SNP	.											.	SYT5	45	.	0			c.T245C						.						22.0	21.0	22.0					19																	55689571		2198	4300	6498	SO:0001583	missense	6861	exon3			TTGTCTATGTAAC	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.245T>C	chr19.hg19:g.55689571A>G	ENSP00000346265:p.Ile82Thr	37.0	0.0		21.0	13.0	NM_003180	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	hg19	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	A	8.450	0.852859	0.17106	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.52057	0.68;0.68	4.06	4.06	0.47325	.	0.379657	0.29799	N	0.011178	T	0.20577	0.0495	N	0.03608	-0.345	0.37593	D	0.920254	B;B	0.34015	0.435;0.0	B;B	0.29353	0.101;0.004	T	0.18999	-1.0319	10	0.09338	T	0.73	.	12.7052	0.57058	1.0:0.0:0.0:0.0	.	82;82	Q4FD32;O00445	.;SYT5_HUMAN	T	82	ENSP00000442896:I82T;ENSP00000346265:I82T	ENSP00000346265:I82T	I	-	2	0	SYT5	60381383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.733000	0.55029	1.797000	0.52628	0.459000	0.35465	ATA	.	.		0.642	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180	
ZNF471	57573	hgsc.bcm.edu	37	19	57036782	57036782	+	Missense_Mutation	SNP	A	A	C	rs372005205		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:57036782A>C	ENST00000308031.5	+	5	1479	c.1346A>C	c.(1345-1347)cAt>cCt	p.H449P	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	449					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTCACTCAGCATCAAAGAGTA	0.393																																					p.H449P	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	Atlas-SNP	.											.	ZNF471	99	.	0			c.A1346C						.						94.0	91.0	92.0					19																	57036782		2203	4300	6503	SO:0001583	missense	57573	exon5			CTCAGCATCAAAG	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1346A>C	chr19.hg19:g.57036782A>C	ENSP00000309161:p.His449Pro	91.0	0.0		38.0	32.0	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	hg19	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260819	0.59431	.	.	ENSG00000196263	ENST00000308031	D	0.86865	-2.18	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95130	0.8422	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95741	0.8783	9	0.87932	D	0	.	11.4245	0.50003	1.0:0.0:0.0:0.0	.	449	Q9BX82	ZN471_HUMAN	P	449	ENSP00000309161:H449P	ENSP00000309161:H449P	H	+	2	0	ZNF471	61728594	0.866000	0.29940	0.707000	0.30419	0.951000	0.60555	3.671000	0.54576	1.536000	0.49237	0.379000	0.24179	CAT	.	.		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF71	58491	hgsc.bcm.edu	37	19	57132817	57132817	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:57132817A>T	ENST00000328070.6	+	3	396	c.162A>T	c.(160-162)gcA>gcT	p.A54A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	54					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATGCAGGTGCAGAGTGGGAGC	0.617																																					p.A54A		Atlas-SNP	.											.	ZNF71	69	.	0			c.A162T						.						43.0	42.0	43.0					19																	57132817		2203	4300	6503	SO:0001819	synonymous_variant	58491	exon3			AGGTGCAGAGTGG	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.162A>T	chr19.hg19:g.57132817A>T		125.0	0.0		42.0	37.0	NM_021216	Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	hg19	CCDS12947.1																																																																																			.	.		0.617	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
ZNF460	10794	hgsc.bcm.edu	37	19	57803168	57803168	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:57803168A>G	ENST00000360338.3	+	3	1581	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C	ZNF460_ENST00000537645.1_Missense_Mutation_p.Y379C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAAGCCCTATGAGTGTTTA	0.463																																					p.Y420C		Atlas-SNP	.											.	ZNF460	59	.	0			c.A1259G						.						71.0	73.0	72.0					19																	57803168		2203	4300	6503	SO:0001583	missense	10794	exon3			AGCCCTATGAGTG	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1259A>G	chr19.hg19:g.57803168A>G	ENSP00000353491:p.Tyr420Cys	91.0	0.0		54.0	51.0	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	hg19	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698945	0.30142	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.25414	1.8;1.8	1.68	0.52	0.17040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29749	0.0743	M	0.84219	2.685	0.09310	N	1	P	0.52061	0.95	B	0.43809	0.432	T	0.27400	-1.0075	9	0.87932	D	0	.	3.0136	0.06052	0.5806:0.259:0.1604:0.0	.	420	Q14592	ZN460_HUMAN	C	379;420	ENSP00000446167:Y379C;ENSP00000353491:Y420C	ENSP00000353491:Y420C	Y	+	2	0	ZNF460	62494980	0.003000	0.15002	0.144000	0.22314	0.803000	0.45373	0.730000	0.26043	0.080000	0.16959	0.528000	0.53228	TAT	.	.		0.463	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635	
ZNF549	256051	hgsc.bcm.edu	37	19	58048776	58048776	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:58048776T>G	ENST00000376233.3	+	4	585	c.404T>G	c.(403-405)gTg>gGg	p.V135G	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.V122G|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	135	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATACGTCTGTGGCCAGTGGG	0.473																																					p.V135G		Atlas-SNP	.											.	ZNF549	118	.	0			c.T404G						.						122.0	103.0	109.0					19																	58048776		2203	4300	6503	SO:0001583	missense	256051	exon4			CGTCTGTGGCCAG	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.404T>G	chr19.hg19:g.58048776T>G	ENSP00000365407:p.Val135Gly	159.0	0.0		93.0	68.0	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	hg19	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.424625	0.00186	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.59364	0.27;0.27	2.28	-3.41	0.04839	Krueppel-associated box (1);	.	.	.	.	T	0.15998	0.0385	N	0.00595	-1.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19095	-1.0316	9	0.11182	T	0.66	.	1.9729	0.03409	0.1366:0.1345:0.1793:0.5496	.	135;122	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	G	122;135	ENSP00000240719:V122G;ENSP00000365407:V135G	ENSP00000240719:V122G	V	+	2	0	ZNF549	62740588	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.957000	0.01521	-0.862000	0.04089	-1.122000	0.02009	GTG	.	.		0.473	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZSCAN18	65982	hgsc.bcm.edu	37	19	58598367	58598367	+	Missense_Mutation	SNP	C	C	G	rs368736992	byFrequency	TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:58598367C>G	ENST00000240727.6	-	5	1050	c.651G>C	c.(649-651)aaG>aaC	p.K217N	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.K217N|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.K273N|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.K82N	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGAAAGGACTTCAGCTTCT	0.632																																					p.K273N		Atlas-SNP	.											.	ZSCAN18	104	.	0			c.G819C						.						60.0	53.0	55.0					19																	58598367		2203	4300	6503	SO:0001583	missense	65982	exon5			AAAGGACTTCAGC	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.651G>C	chr19.hg19:g.58598367C>G	ENSP00000240727:p.Lys217Asn	27.0	0.0		17.0	16.0	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	hg19	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	7.607	0.674005	0.14841	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.52;4.21	3.06	2.0	0.26442	.	0.923172	0.08891	N	0.878662	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	P;D;P;P	0.54964	0.675;0.969;0.782;0.675	B;B;B;B	0.42959	0.228;0.403;0.279;0.145	T	0.49634	-0.8919	10	0.38643	T	0.18	-0.1177	5.4555	0.16588	0.0:0.8352:0.0:0.1648	.	273;82;217;217	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	N	273;217;82	ENSP00000240727:K217N;ENSP00000392653:K82N	ENSP00000240727:K217N	K	-	3	2	ZSCAN18	63290179	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.295000	0.19065	0.807000	0.34208	0.561000	0.74099	AAG	.	.		0.632	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
ZSCAN18	65982	hgsc.bcm.edu	37	19	58601546	58601546	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr19:58601546T>A	ENST00000240727.6	-	2	488	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q30L|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q86L|ZSCAN18_ENST00000421612.2_Intron	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	30					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TTCTTCCTGCTGGACTCCGGC	0.647																																					p.Q86L		Atlas-SNP	.											.	ZSCAN18	104	.	0			c.A257T						.						36.0	40.0	39.0					19																	58601546		2203	4300	6503	SO:0001583	missense	65982	exon2			TCCTGCTGGACTC	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.89A>T	chr19.hg19:g.58601546T>A	ENSP00000240727:p.Gln30Leu	215.0	1.0		81.0	62.0	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	hg19	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813444	0.32053	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.01998	4.51	3.52	-2.2	0.06994	.	.	.	.	.	T	0.01254	0.0041	N	0.24115	0.695	0.18873	N	0.999984	B;B;B;B	0.18310	0.027;0.0;0.011;0.006	B;B;B;B	0.12837	0.004;0.001;0.008;0.004	T	0.49062	-0.8978	9	0.08837	T	0.75	-1.0345	1.0985	0.01679	0.1836:0.1323:0.3748:0.3093	.	86;100;30;30	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	L	86;30	ENSP00000240727:Q30L	ENSP00000240727:Q30L	Q	-	2	0	ZSCAN18	63293358	0.002000	0.14202	0.007000	0.13788	0.042000	0.13812	0.430000	0.21428	-0.638000	0.05509	0.379000	0.24179	CAG	.	.		0.647	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
SLC52A3	113278	hgsc.bcm.edu	37	20	744623	744623	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:744623C>A	ENST00000217254.7	-	3	833	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.A198S	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	198					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CCGGGGAGGGCGGACACCAAA	0.567																																					p.A198S		Atlas-SNP	.											.	.	.	.	0			c.G592T						.						26.0	24.0	24.0					20																	744623		2197	4294	6491	SO:0001583	missense	113278	exon3			GGAGGGCGGACAC	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.592G>T	chr20.hg19:g.744623C>A	ENSP00000217254:p.Ala198Ser	52.0	0.0		63.0	17.0	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	hg19	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	0.299	-0.975106	0.02215	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.73258	-0.73;-0.73	2.92	-2.63	0.06133	.	4.686180	0.00999	N	0.003646	T	0.46795	0.1411	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42189	-0.9466	10	0.08837	T	0.75	.	7.6215	0.28187	0.0:0.3991:0.0:0.6009	.	198;198	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	S	198	ENSP00000217254:A198S;ENSP00000371370:A198S	ENSP00000217254:A198S	A	-	1	0	C20orf54	692623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.441000	0.02409	-0.612000	0.05701	-0.254000	0.11334	GCC	.	.		0.567	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
SIRPB1	10326	hgsc.bcm.edu	37	20	1551660	1551660	+	Missense_Mutation	SNP	A	A	T	rs201191774		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:1551660A>T	ENST00000381605.4	-	4	939	c.875T>A	c.(874-876)gTg>gAg	p.V292E	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	292	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTCCGGGACACATTTCCATT	0.557																																					p.V292E		Atlas-SNP	.											.	SIRPB1	83	.	0			c.T875A						.						187.0	169.0	175.0					20																	1551660		2203	4300	6503	SO:0001583	missense	10326	exon4			CGGGACACATTTC	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.875T>A	chr20.hg19:g.1551660A>T	ENSP00000371018:p.Val292Glu	96.0	0.0		145.0	40.0	NM_006065	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	hg19	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	6.022	0.372502	0.11409	.	.	ENSG00000101307	ENST00000381605	T	0.02258	4.37	2.39	2.39	0.29439	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.188170	0.06119	N	0.668564	T	0.02418	0.0074	N	0.25890	0.77	0.19775	N	0.999951	P	0.39964	0.697	B	0.42138	0.377	T	0.43750	-0.9372	10	0.13853	T	0.58	.	6.5862	0.22622	1.0:0.0:0.0:0.0	.	292	O00241	SIRB1_HUMAN	E	292	ENSP00000371018:V292E	ENSP00000371018:V292E	V	-	2	0	SIRPB1	1499660	0.000000	0.05858	0.009000	0.14445	0.026000	0.11368	0.313000	0.19415	1.095000	0.41419	0.260000	0.18958	GTG	.	A|1.000;G|0.000		0.557	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
C20orf141	128653	hgsc.bcm.edu	37	20	2796253	2796253	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:2796253T>A	ENST00000380589.4	+	2	504	c.330T>A	c.(328-330)ggT>ggA	p.G110G	TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Silent_p.G110G|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	110	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CCGGTGAAGGTCCTGGACAGC	0.627																																					p.G110G		Atlas-SNP	.											.	C20orf141	21	.	0			c.T330A						.						45.0	44.0	44.0					20																	2796253		2203	4300	6503	SO:0001819	synonymous_variant	128653	exon2			TGAAGGTCCTGGA		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.330T>A	chr20.hg19:g.2796253T>A		87.0	0.0		77.0	30.0	NM_080739		Silent	SNP	ENST00000380589.4	hg19	CCDS13034.1																																																																																			.	.		0.627	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739	
DDRGK1	65992	hgsc.bcm.edu	37	20	3180750	3180750	+	Splice_Site	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:3180750T>G	ENST00000354488.3	-	4	466		c.e4-2		DDRGK1_ENST00000380201.2_Splice_Site	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1							endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTCCTCTGCCTGGAGAGAGGT	0.637																																					.		Atlas-SNP	.											.	DDRGK1	21	.	0			c.409-2A>C						.						72.0	58.0	62.0					20																	3180750		2203	4299	6502	SO:0001630	splice_region_variant	65992	exon5			TCTGCCTGGAGAG	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.409-2A>C	chr20.hg19:g.3180750T>G		62.0	0.0		71.0	29.0	NM_023935	A6NIU5|C9JSZ5|Q9BW47	Splice_Site	SNP	ENST00000354488.3	hg19	CCDS13050.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294045	0.40594	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7287	0.51724	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDRGK1	3128750	1.000000	0.71417	0.907000	0.35723	0.377000	0.30045	4.510000	0.60455	2.025000	0.59659	0.533000	0.62120	.	.	.		0.637	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935	Intron
SMOX	54498	hgsc.bcm.edu	37	20	4168039	4168039	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:4168039C>T	ENST00000305958.4	+	7	1878	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	SMOX_ENST00000379460.2_Silent_p.F551F|SMOX_ENST00000339123.6_Silent_p.F498F|SMOX_ENST00000278795.3_Silent_p.F528F|SMOX_ENST00000346595.2_Silent_p.F186F	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	551					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGACCTCTTCCAGCAGGGGA	0.632																																					p.F581F		Atlas-SNP	.											.	SMOX	119	.	0			c.C1743T						.						62.0	56.0	58.0					20																	4168039		2203	4300	6503	SO:0001819	synonymous_variant	54498	exon8			CCTCTTCCAGCAG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1653C>T	chr20.hg19:g.4168039C>T		107.0	0.0		72.0	33.0	NM_001270691	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	hg19	CCDS13075.1																																																																																			.	.		0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
SLC23A2	9962	hgsc.bcm.edu	37	20	4913132	4913132	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:4913132T>A	ENST00000379333.1	-	3	469	c.77A>T	c.(76-78)gAg>gTg	p.E26V	SLC23A2_ENST00000424750.2_Missense_Mutation_p.E26V|SLC23A2_ENST00000338244.1_Missense_Mutation_p.E26V|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	26					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGCTTTGCCTCGTCTTCGTA	0.403																																					p.E26V		Atlas-SNP	.											.	SLC23A2	62	.	0			c.A77T						.						217.0	179.0	192.0					20																	4913132		2203	4300	6503	SO:0001583	missense	9962	exon3			TTTGCCTCGTCTT	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.77A>T	chr20.hg19:g.4913132T>A	ENSP00000368637:p.Glu26Val	81.0	0.0		83.0	30.0	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	hg19	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706180	0.48412	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.54866	0.55;0.55;0.55	5.14	5.14	0.70334	.	0.210797	0.43110	D	0.000613	T	0.38852	0.1056	N	0.19112	0.55	0.24168	N	0.995639	P;P;P	0.48911	0.917;0.596;0.917	B;B;B	0.41135	0.348;0.143;0.348	T	0.38993	-0.9635	10	0.66056	D	0.02	-9.7838	12.9483	0.58386	0.0:0.0:0.0:1.0	.	26;26;26	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	V	26	ENSP00000368637:E26V;ENSP00000344322:E26V;ENSP00000406601:E26V	ENSP00000344322:E26V	E	-	2	0	SLC23A2	4861132	0.989000	0.36119	0.146000	0.22360	0.764000	0.43329	4.687000	0.61708	1.954000	0.56735	0.450000	0.29827	GAG	.	.		0.403	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
PLCB4	5332	hgsc.bcm.edu	37	20	9449299	9449299	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:9449299G>A	ENST00000378493.1	+	32	3309	c.3294G>A	c.(3292-3294)aaG>aaA	p.K1098K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.K1098K|PLCB4_ENST00000378473.3_Silent_p.K1110K|PLCB4_ENST00000378501.2_Silent_p.K1098K|PLCB4_ENST00000278655.4_Silent_p.K1098K|PLCB4_ENST00000414679.2_Silent_p.K1110K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1098					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATCTATCAAGAATAAAGCAG	0.398																																					p.K1110K		Atlas-SNP	.											.	PLCB4	204	.	0			c.G3330A						.						122.0	114.0	117.0					20																	9449299		2203	4300	6503	SO:0001819	synonymous_variant	5332	exon35			TATCAAGAATAAA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3294G>A	chr20.hg19:g.9449299G>A		35.0	0.0		37.0	11.0	NM_001172646	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	hg19	CCDS13105.1																																																																																			.	.		0.398	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
PAK7	57144	hgsc.bcm.edu	37	20	9546811	9546811	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:9546811A>T	ENST00000378429.3	-	6	1757	c.1211T>A	c.(1210-1212)cTc>cAc	p.L404H	PAK7_ENST00000378423.1_Missense_Mutation_p.L404H|PAK7_ENST00000353224.5_Missense_Mutation_p.L404H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	404	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGCTGAGGGAGCTCAG	0.637																																					p.L404H		Atlas-SNP	.											.	PAK7	194	.	0			c.T1211A						.						91.0	88.0	89.0					20																	9546811		2203	4300	6503	SO:0001583	missense	57144	exon5			AGGCTGAGGGAGC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1211T>A	chr20.hg19:g.9546811A>T	ENSP00000367686:p.Leu404His	67.0	0.0		46.0	21.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587403	0.66105	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.34472	1.36;1.36;1.36	5.94	4.83	0.62350	.	0.103207	0.64402	D	0.000002	T	0.16471	0.0396	N	0.08118	0	0.49213	D	0.999767	P;P	0.51791	0.948;0.948	B;B	0.43155	0.41;0.41	T	0.02736	-1.1117	9	.	.	.	.	3.4129	0.07365	0.6842:0.0:0.3158:0.0	.	404;404	B0AZM9;Q9P286	.;PAK7_HUMAN	H	404;404;404;352	ENSP00000367686:L404H;ENSP00000322957:L404H;ENSP00000367679:L404H	.	L	-	2	0	PAK7	9494811	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.849000	0.55910	2.265000	0.75225	0.482000	0.46254	CTC	.	.		0.637	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
PAK7	57144	hgsc.bcm.edu	37	20	9561478	9561478	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:9561478T>C	ENST00000378429.3	-	5	850	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	PAK7_ENST00000378423.1_Missense_Mutation_p.K102E|PAK7_ENST00000353224.5_Missense_Mutation_p.K102E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	102	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGGCTTTCTTTCCTTAGGGAG	0.537																																					p.K102E		Atlas-SNP	.											.	PAK7	194	.	0			c.A304G						.						129.0	131.0	131.0					20																	9561478		2203	4300	6503	SO:0001583	missense	57144	exon4			TTTCTTTCCTTAG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.304A>G	chr20.hg19:g.9561478T>C	ENSP00000367686:p.Lys102Glu	72.0	0.0		65.0	22.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934958	0.73442	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.44083	0.93;0.93;0.93	5.82	5.82	0.92795	.	0.085006	0.85682	D	0.000000	T	0.42449	0.1203	L	0.55481	1.735	0.53688	D	0.999976	P;P	0.49090	0.842;0.919	B;B	0.42087	0.324;0.375	T	0.33369	-0.9871	9	.	.	.	.	16.1729	0.81831	0.0:0.0:0.0:1.0	.	102;102	B0AZM9;Q9P286	.;PAK7_HUMAN	E	102;102;102;50	ENSP00000367686:K102E;ENSP00000322957:K102E;ENSP00000367679:K102E	.	K	-	1	0	PAK7	9509478	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.231000	0.72307	2.214000	0.71695	0.533000	0.62120	AAA	.	.		0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
PAK7	57144	hgsc.bcm.edu	37	20	9624845	9624845	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:9624845T>A	ENST00000378429.3	-	4	678	c.132A>T	c.(130-132)gcA>gcT	p.A44A	PAK7_ENST00000378423.1_Silent_p.A44A|PAK7_ENST00000353224.5_Silent_p.A44A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	44	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A44A(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGCCGTATCTGCTAACAGGC	0.542																																					p.A44A		Atlas-SNP	.											PAK7,mouth,carcinoma,0,1	PAK7	194	.	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	c.A132T						.						128.0	116.0	120.0					20																	9624845		2203	4300	6503	SO:0001819	synonymous_variant	57144	exon3			CGTATCTGCTAAC	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.132A>T	chr20.hg19:g.9624845T>A		107.0	0.0		87.0	35.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	hg19	CCDS13107.1																																																																																			.	.		0.542	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
KIF16B	55614	hgsc.bcm.edu	37	20	16485049	16485049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:16485049T>A	ENST00000354981.2	-	10	1301	c.1144A>T	c.(1144-1146)Aga>Tga	p.R382*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R382*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R382*|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	382					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTTTTCAGTCTGGCTATTTCA	0.398																																					p.R382X		Atlas-SNP	.											.	KIF16B	305	.	0			c.A1144T						.						229.0	211.0	217.0					20																	16485049		2203	4300	6503	SO:0001587	stop_gained	55614	exon10			TCAGTCTGGCTAT	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1144A>T	chr20.hg19:g.16485049T>A	ENSP00000347076:p.Arg382*	143.0	0.0		114.0	51.0	NM_001199865	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	hg19	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	39	7.662869	0.98419	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7762	0.57451	0.0:0.0:0.1725:0.8275	.	.	.	.	X	382	.	ENSP00000347076:R382X	R	-	1	2	KIF16B	16433049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.148000	0.50647	2.371000	0.80710	0.533000	0.62120	AGA	.	.		0.398	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
CST9	128822	hgsc.bcm.edu	37	20	23586297	23586297	+	Silent	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:23586297T>G	ENST00000376971.3	-	1	216	c.205A>C	c.(205-207)Agg>Cgg	p.R69R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	69						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CGCAACAGCCTGTAGGCATGC	0.517																																					p.R69R		Atlas-SNP	.											.	CST9	26	.	0			c.A205C						.						257.0	196.0	217.0					20																	23586297		2203	4300	6503	SO:0001819	synonymous_variant	128822	exon1			ACAGCCTGTAGGC	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.205A>C	chr20.hg19:g.23586297T>G		107.0	0.0		121.0	56.0	NM_001008693	B2RP76|Q8TD53	Silent	SNP	ENST00000376971.3	hg19	CCDS33450.1																																																																																			.	.		0.517	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
HM13	81502	hgsc.bcm.edu	37	20	30102430	30102430	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:30102430C>T	ENST00000340852.5	+	1	200	c.76C>T	c.(76-78)Cct>Tct	p.P26S	HM13_ENST00000398174.3_Missense_Mutation_p.P26S|HM13_ENST00000335574.5_Missense_Mutation_p.P26S|HM13_ENST00000376127.3_Missense_Mutation_p.P26S	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	26					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TACGCGGCCGCCTTCCACGCC	0.711																																					p.P26S		Atlas-SNP	.											.	HM13	52	.	0			c.C76T						.						11.0	12.0	11.0					20																	30102430		2170	4252	6422	SO:0001583	missense	81502	exon1			CGGCCGCCTTCCA	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.76C>T	chr20.hg19:g.30102430C>T	ENSP00000343032:p.Pro26Ser	68.0	0.0		79.0	29.0	NM_178581	B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	hg19	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305057	0.81247	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.23348	1.97;1.96;1.97;1.91;1.91	4.06	4.06	0.47325	.	0.234366	0.44902	D	0.000407	T	0.36248	0.0960	L	0.58510	1.815	0.39586	D	0.969503	P;D;D;D	0.59767	0.889;0.986;0.986;0.965	B;P;P;P	0.53593	0.444;0.73;0.73;0.647	T	0.26608	-1.0098	10	0.56958	D	0.05	-11.8579	11.4548	0.50176	0.0:0.8177:0.1822:0.0	.	26;26;26;26	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	S	26	ENSP00000335294:P26S;ENSP00000343032:P26S;ENSP00000381237:P26S;ENSP00000365296:P26S;ENSP00000341347:P26S	ENSP00000335294:P26S	P	+	1	0	HM13	29566091	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.071000	0.41500	2.091000	0.63221	0.555000	0.69702	CCT	.	.		0.711	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580	
FOXS1	2307	hgsc.bcm.edu	37	20	30432970	30432970	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:30432970G>A	ENST00000375978.3	-	1	450	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	126					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTTGGCGGGGCCCCGGGTG	0.706																																					p.P126S		Atlas-SNP	.											.	FOXS1	29	.	0			c.C376T						.						12.0	14.0	14.0					20																	30432970		2193	4281	6474	SO:0001583	missense	2307	exon1			TGGCGGGGCCCCG	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.376C>T	chr20.hg19:g.30432970G>A	ENSP00000365145:p.Pro126Ser	27.0	0.0		27.0	13.0	NM_004118	Q96D28	Missense_Mutation	SNP	ENST00000375978.3	hg19	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	6.655	0.489429	0.12641	.	.	ENSG00000179772	ENST00000375978	D	0.93247	-3.19	4.5	1.14	0.20703	.	0.381500	0.18351	N	0.143881	D	0.83931	0.5361	L	0.27053	0.805	0.28440	N	0.916861	B	0.06786	0.001	B	0.06405	0.002	T	0.68439	-0.5408	10	0.12430	T	0.62	.	5.3393	0.15974	0.0996:0.0:0.4654:0.435	.	126	O43638	FOXS1_HUMAN	S	126	ENSP00000365145:P126S	ENSP00000365145:P126S	P	-	1	0	FOXS1	29896631	0.946000	0.32159	0.618000	0.29105	0.130000	0.20726	1.445000	0.35079	0.601000	0.29879	0.555000	0.69702	CCC	.	.		0.706	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118	
XKR7	343702	hgsc.bcm.edu	37	20	30585087	30585087	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:30585087A>T	ENST00000562532.2	+	3	1741	c.1567A>T	c.(1567-1569)Atc>Ttc	p.I523F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	523						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGCCTGTCATCCGGATTGA	0.642																																					p.I523F		Atlas-SNP	.											.	XKR7	62	.	0			c.A1567T						.						44.0	50.0	48.0					20																	30585087		2203	4299	6502	SO:0001583	missense	343702	exon3			CCTGTCATCCGGA	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1567A>T	chr20.hg19:g.30585087A>T	ENSP00000477059:p.Ile523Phe	29.0	0.0		29.0	16.0	NM_001011718	Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	hg19	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184979	0.78677	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.77772	0.4180	M	0.74467	2.265	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.80480	-0.1364	9	0.66056	D	0.02	-4.5707	13.404	0.60900	1.0:0.0:0.0:0.0	.	523	Q5GH72	XKR7_HUMAN	F	523	.	ENSP00000217299:I523F	I	+	1	0	XKR7	30048748	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.139000	0.94554	2.037000	0.60232	0.459000	0.35465	ATC	.	.		0.642	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
BPIFA1	51297	hgsc.bcm.edu	37	20	31827623	31827623	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:31827623A>G	ENST00000354297.4	+	4	406	c.335A>G	c.(334-336)gAc>gGc	p.D112G	BPIFA1_ENST00000375413.4_Missense_Mutation_p.D112G|BPIFA1_ENST00000375422.2_Missense_Mutation_p.D112G	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	112					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										AAGGTCACTGACCCCCAGCTG	0.512																																					p.D112G		Atlas-SNP	.											.	.	.	.	0			c.A335G						.						174.0	163.0	167.0					20																	31827623		2203	4300	6503	SO:0001583	missense	51297	exon4			TCACTGACCCCCA	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.335A>G	chr20.hg19:g.31827623A>G	ENSP00000346251:p.Asp112Gly	104.0	0.0		104.0	34.0	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	hg19	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.752326	0.31046	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04317	3.65;3.65;3.65	5.44	5.44	0.79542	.	0.565880	0.18004	N	0.154800	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.26052	-1.0114	10	0.62326	D	0.03	-0.0574	11.8174	0.52218	1.0:0.0:0.0:0.0	.	112	Q9NP55	BPIA1_HUMAN	G	112;112;112;98	ENSP00000364571:D112G;ENSP00000346251:D112G;ENSP00000364562:D112G	ENSP00000346251:D112G	D	+	2	0	BPIFA1	31291284	0.137000	0.22531	0.058000	0.19502	0.678000	0.39670	4.007000	0.57093	2.288000	0.76882	0.533000	0.62120	GAC	.	.		0.512	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
EDEM2	55741	hgsc.bcm.edu	37	20	33714169	33714169	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:33714169T>C	ENST00000374492.3	-	8	959	c.854A>G	c.(853-855)aAa>aGa	p.K285R	EDEM2_ENST00000374491.3_Missense_Mutation_p.K248R|EDEM2_ENST00000542871.1_Missense_Mutation_p.K9R|EDEM2_ENST00000540582.1_Missense_Mutation_p.K244R|EDEM2_ENST00000541621.1_Missense_Mutation_p.K64R	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	285					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCGGATGGCTTTGTTATACTC	0.517																																					p.K285R	Esophageal Squamous(51;906 1021 24535 36410 39145)	Atlas-SNP	.											.	EDEM2	46	.	0			c.A854G						.						159.0	144.0	149.0					20																	33714169		2203	4300	6503	SO:0001583	missense	55741	exon8			ATGGCTTTGTTAT	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.854A>G	chr20.hg19:g.33714169T>C	ENSP00000363616:p.Lys285Arg	99.0	0.0		68.0	26.0	NM_018217	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	hg19	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925567	0.34002	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.18	5.18	0.71444	.	0.155762	0.56097	D	0.000030	T	0.62441	0.2428	L	0.41710	1.295	0.45554	D	0.998502	B;B;B;B	0.12630	0.006;0.0;0.002;0.001	B;B;B;B	0.14023	0.01;0.004;0.004;0.006	T	0.57757	-0.7756	10	0.27785	T	0.31	-13.361	15.0331	0.71723	0.0:0.0:0.0:1.0	.	244;64;248;285	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	R	248;285;64;9;244	ENSP00000363615:K248R;ENSP00000363616:K285R;ENSP00000443528:K64R;ENSP00000441642:K9R;ENSP00000441548:K244R	ENSP00000363615:K248R	K	-	2	0	EDEM2	33177830	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.737000	0.38197	1.954000	0.56735	0.460000	0.39030	AAA	.	.		0.517	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217	
MMP24	10893	hgsc.bcm.edu	37	20	33839777	33839777	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:33839777C>A	ENST00000246186.6	+	3	550	c.465C>A	c.(463-465)cgC>cgA	p.R155R	MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	155					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GAAACAAGCGCTATGCCCTGA	0.557																																					p.R155R		Atlas-SNP	.											.	MMP24	35	.	0			c.C465A						.						142.0	151.0	148.0					20																	33839777		2042	4192	6234	SO:0001819	synonymous_variant	10893	exon3			CAAGCGCTATGCC	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.465C>A	chr20.hg19:g.33839777C>A		87.0	0.0		67.0	33.0	NM_006690	B7ZBG8|Q9H440	Silent	SNP	ENST00000246186.6	hg19	CCDS46593.1																																																																																			.	.		0.557	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690	
CEP250	11190	hgsc.bcm.edu	37	20	34065725	34065725	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:34065725C>G	ENST00000397527.1	+	17	2613	c.1893C>G	c.(1891-1893)agC>agG	p.S631R	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.S631R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	631	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGTGTGCAGCAGAATGGAGG	0.512																																					p.S631R		Atlas-SNP	.											.	CEP250	141	.	0			c.C1893G						.						45.0	45.0	45.0					20																	34065725		2202	4297	6499	SO:0001583	missense	11190	exon17			GTGCAGCAGAATG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1893C>G	chr20.hg19:g.34065725C>G	ENSP00000380661:p.Ser631Arg	118.0	0.0		97.0	48.0	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	hg19	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.341751|2.341751	0.41498|0.41498	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000425096|ENST00000397527;ENST00000342580;ENST00000425934	.|T;T;T	.|0.24151	.|2.82;2.83;1.87	5.6|5.6	3.3|3.3	0.37823|0.37823	.|.	.|0.616834	.|0.16353	.|N	.|0.218126	T|T	0.18130|0.18130	0.0435|0.0435	L|L	0.36672|0.36672	1.1|1.1	0.29753|0.29753	N|N	0.836141|0.836141	.|B	.|0.10296	.|0.003	.|B	.|0.14023	.|0.01	T|T	0.14008|0.14008	-1.0488|-1.0488	5|10	.|0.19590	.|T	.|0.45	.|.	8.6188|8.6188	0.33849|0.33849	0.0:0.7125:0.164:0.1235|0.0:0.7125:0.164:0.1235	.|.	.|631	.|Q9BV73	.|CP250_HUMAN	E|R	145|631;631;630	.|ENSP00000380661:S631R;ENSP00000341541:S631R;ENSP00000413827:S630R	.|ENSP00000341541:S631R	Q|S	+|+	1|3	0|2	CEP250|CEP250	33529139|33529139	0.878000|0.878000	0.30173|0.30173	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.711000|0.711000	0.25764|0.25764	1.338000|1.338000	0.45544|0.45544	0.650000|0.650000	0.86243|0.86243	CAG|AGC	.	.		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
SOGA1	140710	hgsc.bcm.edu	37	20	35406236	35406236	+	Splice_Site	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:35406236T>C	ENST00000279034.6	-	15	3320		c.e15-2		SOGA1_ENST00000237536.4_3'UTR	NM_199181.2	NP_954650.2	O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGCTTCTGGCTCTCTTCCCAG	0.592																																					.		Atlas-SNP	.											.	SOGA1	136	.	0			c.2994-2A>G						.						28.0	32.0	30.0					20																	35406236		1612	3572	5184	SO:0001630	splice_region_variant	140710	exon16			TCTGGCTCTCTTC	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000279034.6:c.2994-2A>G	chr20.hg19:g.35406236T>C		58.0	0.0		53.0	15.0	NM_199181	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Splice_Site	SNP	ENST00000279034.6	hg19	CCDS46598.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731593	0.48939	.	.	ENSG00000149639	ENST00000279034	.	.	.	2.96	-0.626	0.11544	.	.	.	.	.	.	.	.	.	.	.	0.38337	D	0.943955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6122	0.17412	0.0:0.4509:0.0:0.5491	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0889	34839650	1.000000	0.71417	0.352000	0.25734	0.910000	0.53928	1.258000	0.32944	-0.014000	0.14175	-0.456000	0.05471	.	.	.		0.592	SOGA1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276634.3	NM_199181	Intron
SOGA1	140710	hgsc.bcm.edu	37	20	35423004	35423004	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:35423004T>A	ENST00000357779.3	-	14	3095		c.e14-2		SOGA1_ENST00000279034.6_Splice_Site|SOGA1_ENST00000456801.2_Splice_Site|SOGA1_ENST00000237536.4_Splice_Site			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GATTTGGTTCTGCGAAGGACA	0.522																																					.		Atlas-SNP	.											.	SOGA1	136	.	0			c.2769-2A>T						.						67.0	67.0	67.0					20																	35423004		2010	4163	6173	SO:0001630	splice_region_variant	140710	exon15			TGGTTCTGCGAAG	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2769-2A>T	chr20.hg19:g.35423004T>A		77.0	0.0		66.0	35.0	NM_199181	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Splice_Site	SNP	ENST00000357779.3	hg19		.	.	.	.	.	.	.	.	.	.	T	13.94	2.386488	0.42308	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5192	0.67840	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0889	34856418	1.000000	0.71417	0.992000	0.48379	0.552000	0.35366	7.489000	0.81451	2.254000	0.74563	0.533000	0.62120	.	.	.		0.522	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	Intron
LPIN3	64900	hgsc.bcm.edu	37	20	39978721	39978721	+	Silent	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:39978721C>G	ENST00000373257.3	+	7	877	c.786C>G	c.(784-786)tcC>tcG	p.S262S		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	262					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGCCCGAGTCCTCAGTGGTCC	0.627																																					p.S262S		Atlas-SNP	.											.	LPIN3	69	.	0			c.C786G						.						25.0	20.0	22.0					20																	39978721		2201	4299	6500	SO:0001819	synonymous_variant	64900	exon7			CGAGTCCTCAGTG	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.786C>G	chr20.hg19:g.39978721C>G		82.0	0.0		81.0	29.0	NM_022896	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	hg19	CCDS33469.1																																																																																			.	.		0.627	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
STK4	6789	hgsc.bcm.edu	37	20	43607128	43607128	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:43607128A>T	ENST00000372806.3	+	3	256	c.161A>T	c.(160-162)cAg>cTg	p.Q54L	STK4_ENST00000499879.2_Missense_Mutation_p.Q54L|STK4_ENST00000372801.1_Missense_Mutation_p.Q54L|STK4_ENST00000396731.4_Missense_Mutation_p.Q54L	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GAGACCGGCCAGATTGTTGCT	0.403																																					p.Q54L	GBM(187;1039 2137 11798 21916 33213)	Atlas-SNP	.											.	STK4	84	.	0			c.A161T						.						81.0	82.0	82.0					20																	43607128		2203	4300	6503	SO:0001583	missense	6789	exon3			CCGGCCAGATTGT		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.161A>T	chr20.hg19:g.43607128A>T	ENSP00000361892:p.Gln54Leu	72.0	0.0		60.0	24.0	NM_006282	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	hg19	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304719	0.81247	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054356	0.85682	D	0.000000	T	0.75824	0.3902	L	0.50993	1.605	0.58432	D	0.999998	D;B;B;B	0.56287	0.975;0.1;0.04;0.122	P;B;B;B	0.60473	0.875;0.039;0.046;0.106	T	0.77958	-0.2392	10	0.66056	D	0.02	.	15.8431	0.78864	1.0:0.0:0.0:0.0	.	54;54;54;54	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	L	54	ENSP00000361892:Q54L;ENSP00000379957:Q54L;ENSP00000361887:Q54L;ENSP00000443514:Q54L	ENSP00000361887:Q54L	Q	+	2	0	STK4	43040542	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	9.335000	0.96500	2.136000	0.66102	0.533000	0.62120	CAG	.	.		0.403	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282	
SEMG2	6407	hgsc.bcm.edu	37	20	43851485	43851485	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:43851485T>C	ENST00000372769.3	+	2	1302	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	404	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATAAGGAAAATAAAATATCAT	0.383																																					p.N404N		Atlas-SNP	.											.	SEMG2	92	.	0			c.T1212C						.						71.0	68.0	69.0					20																	43851485		2203	4300	6503	SO:0001819	synonymous_variant	6407	exon2			GGAAAATAAAATA		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1212T>C	chr20.hg19:g.43851485T>C		109.0	0.0		105.0	45.0	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	hg19	CCDS13346.1																																																																																			.	.		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
SLC12A5	57468	hgsc.bcm.edu	37	20	44684872	44684872	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:44684872A>G	ENST00000454036.2	+	22	2989	c.2940A>G	c.(2938-2940)gaA>gaG	p.E980E	SLC12A5_ENST00000243964.3_Silent_p.E957E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	980					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACGTCCCAGAAGAGACGGCTG	0.577																																					p.E980E		Atlas-SNP	.											.	SLC12A5	181	.	0			c.A2940G						.						77.0	74.0	75.0					20																	44684872		2203	4300	6503	SO:0001819	synonymous_variant	57468	exon22			CCCAGAAGAGACG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2940A>G	chr20.hg19:g.44684872A>G		99.0	0.0		88.0	33.0	NM_001134771	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	hg19	CCDS46610.1																																																																																			.	.		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
CSE1L	1434	hgsc.bcm.edu	37	20	47675054	47675054	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:47675054A>G	ENST00000262982.2	+	2	177	c.54A>G	c.(52-54)acA>acG	p.T18T	CSE1L_ENST00000396192.3_Silent_p.T18T|CSE1L_ENST00000542325.1_5'UTR	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	18					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TAAAGAAAACACTTGATCCTG	0.358																																					p.T18T		Atlas-SNP	.											.	CSE1L	83	.	0			c.A54G						.						110.0	119.0	116.0					20																	47675054		2203	4300	6503	SO:0001819	synonymous_variant	1434	exon2			GAAAACACTTGAT	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.54A>G	chr20.hg19:g.47675054A>G		68.0	0.0		52.0	29.0	NM_001256135	A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	hg19	CCDS13412.1																																																																																			.	.		0.358	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316	
STX16	8675	hgsc.bcm.edu	37	20	57246218	57246218	+	Silent	SNP	A	A	G	rs546565420		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:57246218A>G	ENST00000371141.4	+	7	1381	c.657A>G	c.(655-657)acA>acG	p.T219T	STX16-NPEPL1_ENST00000530122.1_Silent_p.T219T|STX16_ENST00000358029.4_Silent_p.T215T|STX16_ENST00000361830.3_Silent_p.T219T|STX16_ENST00000355957.5_Silent_p.T202T|STX16_ENST00000496003.1_Intron|STX16_ENST00000361770.5_Silent_p.T202T|STX16_ENST00000359617.4_Silent_p.T166T|STX16_ENST00000371132.4_Silent_p.T198T	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	219					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AGGGTTTTACAGAGGACCAGT	0.418																																					p.T219T		Atlas-SNP	.											.	STX16	36	.	0			c.A657G						.						102.0	97.0	99.0					20																	57246218		2203	4300	6503	SO:0001819	synonymous_variant	8675	exon7			TTTTACAGAGGAC	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.657A>G	chr20.hg19:g.57246218A>G		87.0	0.0		72.0	27.0	NM_001001433	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	hg19	CCDS13468.1																																																																																			.	.		0.418	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433	
PHACTR3	116154	hgsc.bcm.edu	37	20	58349384	58349384	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:58349384A>T	ENST00000371015.1	+	7	1480	c.1013A>T	c.(1012-1014)gAg>gTg	p.E338V	PHACTR3_ENST00000395639.4_Missense_Mutation_p.E227V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E297V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E297V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E297V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E227V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E335V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	338						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CGGGGCAAGGAGAGGGAGGAG	0.507																																					p.E338V		Atlas-SNP	.											.	PHACTR3	104	.	0			c.A1013T						.						106.0	103.0	104.0					20																	58349384		2203	4300	6503	SO:0001583	missense	116154	exon7			GCAAGGAGAGGGA	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1013A>T	chr20.hg19:g.58349384A>T	ENSP00000360054:p.Glu338Val	85.0	0.0		99.0	36.0	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	hg19	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981029	0.34942	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.87;1.85;1.48;1.88;1.88;1.88;1.48	5.06	5.06	0.68205	.	0.467536	0.26510	N	0.023967	T	0.31670	0.0804	L	0.57536	1.79	0.47621	D	0.999471	B;B;B	0.26902	0.163;0.008;0.008	B;B;B	0.26969	0.075;0.011;0.007	T	0.07177	-1.0786	10	0.33141	T	0.24	-15.4158	13.9996	0.64424	1.0:0.0:0.0:0.0	.	227;338;335	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	V	335;338;227;297;297;297;227	ENSP00000353002:E335V;ENSP00000360054:E338V;ENSP00000379001:E227V;ENSP00000442483:E297V;ENSP00000347866:E297V;ENSP00000378998:E297V;ENSP00000354555:E227V	ENSP00000347866:E297V	E	+	2	0	PHACTR3	57782779	1.000000	0.71417	0.997000	0.53966	0.249000	0.25844	6.175000	0.71949	1.893000	0.54813	0.533000	0.62120	GAG	.	.		0.507	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
CDH26	60437	hgsc.bcm.edu	37	20	58563998	58563998	+	Missense_Mutation	SNP	A	A	G	rs547604097		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr20:58563998A>G	ENST00000244047.5	+	9	1374	c.1063A>G	c.(1063-1065)Att>Gtt	p.I355V	CDH26_ENST00000348616.4_Missense_Mutation_p.I355V			Q8IXH8	CAD26_HUMAN	cadherin 26	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGCCTCATCATTGTCGTGGA	0.567																																					p.I355V		Atlas-SNP	.											.	CDH26	229	.	0			c.A1063G						.						58.0	63.0	61.0					20																	58563998		2203	4300	6503	SO:0001583	missense	60437	exon9			CTCATCATTGTCG	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1063A>G	chr20.hg19:g.58563998A>G	ENSP00000244047:p.Ile355Val	64.0	0.0		70.0	29.0	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	hg19		.	.	.	.	.	.	.	.	.	.	A	3.222	-0.159347	0.06544	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.56103	0.48;0.48	5.19	-1.44	0.08856	.	0.622919	0.16780	N	0.199840	T	0.26557	0.0649	N	0.11023	0.085	0.09310	N	1	P	0.35383	0.498	B	0.40066	0.318	T	0.34304	-0.9834	10	0.08179	T	0.78	.	5.6053	0.17377	0.5488:0.1366:0.3147:0.0	.	355	Q8IXH8-4	.	V	355	ENSP00000244047:I355V;ENSP00000339390:I355V	ENSP00000244047:I355V	I	+	1	0	CDH26	57997393	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.321000	0.19558	-0.498000	0.06632	0.533000	0.62120	ATT	.	.		0.567	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
USP25	29761	hgsc.bcm.edu	37	21	17196476	17196476	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:17196476A>G	ENST00000285679.6	+	11	1568	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C	USP25_ENST00000285681.2_Missense_Mutation_p.Y400C|USP25_ENST00000400183.2_Missense_Mutation_p.Y400C|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	400	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAAGTTTTATATTTGGACAGG	0.313																																					p.Y400C		Atlas-SNP	.											.	USP25	156	.	0			c.A1199G						.						62.0	64.0	63.0					21																	17196476		2201	4298	6499	SO:0001583	missense	29761	exon11			TTTTATATTTGGA	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1199A>G	chr21.hg19:g.17196476A>G	ENSP00000285679:p.Tyr400Cys	28.0	0.0		28.0	15.0	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.868062	0.72065	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74315	-0.83;-0.83;-0.83	4.67	4.67	0.58626	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.64567	1.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.85314	0.1080	10	0.59425	D	0.04	.	14.8212	0.70074	1.0:0.0:0.0:0.0	.	400;400;400	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	C	400	ENSP00000285681:Y400C;ENSP00000285679:Y400C;ENSP00000383044:Y400C	ENSP00000285679:Y400C	Y	+	2	0	USP25	16118347	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.901000	0.92560	2.063000	0.61619	0.528000	0.53228	TAT	.	.		0.313	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
TMPRSS15	5651	hgsc.bcm.edu	37	21	19732132	19732132	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:19732132T>C	ENST00000284885.3	-	8	855	c.822A>G	c.(820-822)acA>acG	p.T274T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	274	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGTATAATATGTATTAAAAT	0.244																																					p.T274T		Atlas-SNP	.											.	TMPRSS15	189	.	0			c.A822G						.						28.0	34.0	32.0					21																	19732132		2177	4249	6426	SO:0001819	synonymous_variant	5651	exon8			ATAATATGTATTA		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.822A>G	chr21.hg19:g.19732132T>C		188.0	0.0		188.0	86.0	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	hg19	CCDS13571.1																																																																																			.	.		0.244	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	hgsc.bcm.edu	37	21	22782650	22782650	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:22782650A>G	ENST00000400546.1	+	10	1501	c.1252A>G	c.(1252-1254)Atc>Gtc	p.I418V	NCAM2_ENST00000284894.7_Missense_Mutation_p.I276V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	418	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGGAAATCCTATCAATATAAG	0.313																																					p.I418V		Atlas-SNP	.											.	NCAM2	220	.	0			c.A1252G						.						54.0	52.0	53.0					21																	22782650		1817	4067	5884	SO:0001583	missense	4685	exon10			AATCCTATCAATA		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1252A>G	chr21.hg19:g.22782650A>G	ENSP00000383392:p.Ile418Val	353.0	0.0		322.0	144.0	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	hg19	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	3.053	-0.195039	0.06259	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.25085	1.82;1.82	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050564	0.85682	D	0.000000	T	0.09949	0.0244	N	0.02751	-0.505	0.80722	D	1	B;B	0.21147	0.052;0.052	B;B	0.17722	0.018;0.019	T	0.13019	-1.0525	10	0.02654	T	1	-14.9905	13.6486	0.62297	1.0:0.0:0.0:0.0	.	276;418	B7Z5K2;O15394	.;NCAM2_HUMAN	V	418;276	ENSP00000383392:I418V;ENSP00000284894:I276V	ENSP00000284894:I276V	I	+	1	0	NCAM2	21704521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.106000	0.71511	1.961000	0.56991	0.482000	0.46254	ATC	.	.		0.313	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
JAM2	58494	hgsc.bcm.edu	37	21	27062262	27062262	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:27062262T>A	ENST00000480456.1	+	3	768	c.218T>A	c.(217-219)gTc>gAc	p.V73D	JAM2_ENST00000400532.1_Missense_Mutation_p.V73D|JAM2_ENST00000312957.5_Missense_Mutation_p.V73D|JAM2_ENST00000425221.2_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	73	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCTCCTTTGTCTACTATCAA	0.438																																					p.V73D		Atlas-SNP	.											.	JAM2	33	.	0			c.T218A						.						120.0	122.0	122.0					21																	27062262		1866	4089	5955	SO:0001583	missense	58494	exon3			CCTTTGTCTACTA	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.218T>A	chr21.hg19:g.27062262T>A	ENSP00000420419:p.Val73Asp	35.0	0.0		25.0	19.0	NM_021219	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	hg19	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105952	0.77096	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957	T;T;T	0.69040	-0.37;-0.37;-0.37	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057005	0.64402	D	0.000001	T	0.81019	0.4736	M	0.82056	2.57	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;0.998;0.995;0.997	T	0.82922	-0.0217	10	0.62326	D	0.03	.	11.4919	0.50385	0.0:0.0:0.0:1.0	.	73;73;73;73	A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;JAM2_HUMAN	D	73	ENSP00000420419:V73D;ENSP00000383376:V73D;ENSP00000318416:V73D	ENSP00000318416:V73D	V	+	2	0	JAM2	25984133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.827000	0.55745	2.279000	0.76181	0.528000	0.53228	GTC	.	.		0.438	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1		
APP	351	hgsc.bcm.edu	37	21	27277345	27277345	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:27277345T>C	ENST00000346798.3	-	15	1987	c.1954A>G	c.(1954-1956)Act>Gct	p.T652A	APP_ENST00000354192.3_Missense_Mutation_p.T521A|APP_ENST00000359726.3_Missense_Mutation_p.T596A|APP_ENST00000448388.2_Missense_Mutation_p.T542A|APP_ENST00000357903.3_Missense_Mutation_p.T633A|APP_ENST00000440126.3_Missense_Mutation_p.T628A|APP_ENST00000439274.2_Missense_Mutation_p.T596A|APP_ENST00000348990.5_Missense_Mutation_p.T577A|APP_ENST00000358918.3_Intron	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	652					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCTGGTCGAGTGGTCAGTCCT	0.532																																					p.T652A		Atlas-SNP	.											APP,NS,carcinoma,0,1	APP	90	.	0			c.A1954G						.						150.0	133.0	139.0					21																	27277345		2203	4300	6503	SO:0001583	missense	351	exon15			GTCGAGTGGTCAG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1954A>G	chr21.hg19:g.27277345T>C	ENSP00000284981:p.Thr652Ala	104.0	0.0		98.0	34.0	NM_000484	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	hg19	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129933	0.56721	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;D;D;D;D;D;D;D	0.96073	-1.96;-3.89;-3.89;-1.97;-3.9;-3.89;-1.97;-1.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	L	0.50333	1.59	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.998;0.956;0.999;0.974;0.974;0.998	D;D;P;D;D;D;D	0.85130	0.993;0.993;0.899;0.997;0.953;0.953;0.993	D	0.96799	0.9588	10	0.52906	T	0.07	-17.7823	15.3268	0.74172	0.0:0.0:0.0:1.0	.	542;596;628;521;577;633;652	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	A	652;521;577;633;596;542;628;596	ENSP00000284981:T652A;ENSP00000346129:T521A;ENSP00000345463:T577A;ENSP00000350578:T633A;ENSP00000352760:T596A;ENSP00000388538:T542A;ENSP00000387483:T628A;ENSP00000398879:T596A	ENSP00000284981:T652A	T	-	1	0	APP	26199216	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.093000	0.71422	2.288000	0.76882	0.533000	0.62120	ACT	.	.		0.532	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
ADAMTS5	11096	hgsc.bcm.edu	37	21	28306845	28306845	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:28306845T>A	ENST00000284987.5	-	4	1750	c.1629A>T	c.(1627-1629)ggA>ggT	p.G543G	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	543	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTCTCCCCTTTCCACAAGGCG	0.522																																					p.G543G	Esophageal Squamous(53;683 1080 10100 14424 45938)	Atlas-SNP	.											.	ADAMTS5	184	.	0			c.A1629T						.						93.0	86.0	88.0					21																	28306845		2203	4300	6503	SO:0001819	synonymous_variant	11096	exon4			CCCCTTTCCACAA	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1629A>T	chr21.hg19:g.28306845T>A		114.0	0.0		83.0	38.0	NM_007038	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	hg19	CCDS13579.1																																																																																			.	.		0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
KRTAP11-1	337880	hgsc.bcm.edu	37	21	32253723	32253723	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:32253723A>C	ENST00000332378.4	-	1	151	c.121T>G	c.(121-123)Tgt>Ggt	p.C41G		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	41						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTGGGCAAACAGATGCCGCCC	0.572																																					p.C41G		Atlas-SNP	.											.	KRTAP11-1	46	.	0			c.T121G						.						76.0	73.0	74.0					21																	32253723		2203	4300	6503	SO:0001583	missense	337880	exon1			GCAAACAGATGCC	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.121T>G	chr21.hg19:g.32253723A>C	ENSP00000330720:p.Cys41Gly	113.0	0.0		109.0	45.0	NM_175858	A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	hg19	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.673384	0.29693	.	.	ENSG00000182591	ENST00000332378	T	0.04654	3.58	5.4	1.74	0.24563	.	0.689891	0.13918	N	0.353780	T	0.06826	0.0174	M	0.63843	1.955	0.19775	N	0.999955	B	0.27316	0.175	B	0.26693	0.072	T	0.23691	-1.0181	10	0.62326	D	0.03	-0.4836	8.1465	0.31115	0.7592:0.0:0.2408:0.0	.	41	Q8IUC1	KR111_HUMAN	G	41	ENSP00000330720:C41G	ENSP00000330720:C41G	C	-	1	0	KRTAP11-1	31175594	0.729000	0.28090	0.715000	0.30552	0.816000	0.46133	0.481000	0.22260	0.130000	0.18549	0.529000	0.55759	TGT	.	.		0.572	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1		
SETD4	54093	hgsc.bcm.edu	37	21	37408515	37408515	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:37408515A>G	ENST00000399215.1	-	10	2595	c.1223T>C	c.(1222-1224)aTa>aCa	p.I408T	SETD4_ENST00000399212.1_Missense_Mutation_p.I384T|SETD4_ENST00000332131.4_Missense_Mutation_p.I408T|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	408				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TAGTTGGTTTATCAGGGCCTC	0.378																																					p.I408T		Atlas-SNP	.											.	SETD4	37	.	0			c.T1223C						.						123.0	122.0	122.0					21																	37408515		2203	4300	6503	SO:0001583	missense	54093	exon11			TGGTTTATCAGGG	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1223T>C	chr21.hg19:g.37408515A>G	ENSP00000382163:p.Ile408Thr	100.0	0.0		86.0	35.0	NM_017438	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	hg19	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	A	3.542	-0.093530	0.07053	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.15952	2.38;2.38;2.38	5.63	-3.12	0.05282	Rubisco LS methyltransferase, substrate-binding domain (1);	0.938409	0.09149	N	0.841874	T	0.10121	0.0248	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.004;0.007	T	0.42498	-0.9448	10	0.13470	T	0.59	-36.9396	2.206	0.03935	0.2357:0.4258:0.1637:0.1749	.	384;408	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	T	408;384;408	ENSP00000382163:I408T;ENSP00000382161:I384T;ENSP00000329189:I408T	ENSP00000329189:I408T	I	-	2	0	SETD4	36330385	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.253000	0.08794	-0.160000	0.11002	0.460000	0.39030	ATA	.	.		0.378	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	
DOPEY2	9980	hgsc.bcm.edu	37	21	37572789	37572789	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:37572789A>T	ENST00000399151.3	+	4	566	c.481A>T	c.(481-483)Atc>Ttc	p.I161F	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	161					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCTCCGAGATCTCCGACAG	0.622																																					p.I161F		Atlas-SNP	.											.	DOPEY2	184	.	0			c.A481T						.						45.0	45.0	45.0					21																	37572789		2203	4300	6503	SO:0001583	missense	9980	exon4			TCCGAGATCTCCG	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.481A>T	chr21.hg19:g.37572789A>T	ENSP00000382104:p.Ile161Phe	27.0	0.0		31.0	14.0	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834308	0.50951	.	.	ENSG00000142197	ENST00000399151	T	0.11169	2.8	5.42	5.42	0.78866	Dopey, N-terminal (1);	0.047232	0.85682	D	0.000000	T	0.15349	0.0370	N	0.11364	0.135	0.46725	D	0.99917	D;D	0.71674	0.995;0.998	D;D	0.70935	0.933;0.971	T	0.33752	-0.9856	9	.	.	.	.	14.923	0.70854	1.0:0.0:0.0:0.0	.	161;161	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	F	161	ENSP00000382104:I161F	.	I	+	1	0	DOPEY2	36494659	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.649000	0.67936	2.180000	0.69256	0.482000	0.46254	ATC	.	.		0.622	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
DOPEY2	9980	hgsc.bcm.edu	37	21	37605269	37605269	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:37605269A>G	ENST00000399151.3	+	15	2603	c.2518A>G	c.(2518-2520)Agc>Ggc	p.S840G		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	840					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCTATAAGAGCTCTGGACA	0.473																																					p.S840G		Atlas-SNP	.											.	DOPEY2	184	.	0			c.A2518G						.						119.0	113.0	115.0					21																	37605269		2203	4300	6503	SO:0001583	missense	9980	exon15			TATAAGAGCTCTG	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2518A>G	chr21.hg19:g.37605269A>G	ENSP00000382104:p.Ser840Gly	191.0	0.0		158.0	74.0	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481459	0.26598	.	.	ENSG00000142197	ENST00000399151	T	0.13778	2.56	5.98	0.879	0.19155	.	0.590844	0.20063	N	0.100031	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.32561	-0.9902	10	0.23302	T	0.38	-9.8206	6.3183	0.21202	0.6105:0.1243:0.2652:0.0	.	840;840	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	G	840	ENSP00000382104:S840G	ENSP00000382104:S840G	S	+	1	0	DOPEY2	36527139	1.000000	0.71417	0.035000	0.18076	0.930000	0.56654	3.496000	0.53288	0.128000	0.18479	0.528000	0.53228	AGC	.	.		0.473	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
HMGN1	3150	hgsc.bcm.edu	37	21	40720227	40720227	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:40720227T>A	ENST00000380749.5	-	4	399	c.117A>T	c.(115-117)gcA>gcT	p.A39A	HMGN1_ENST00000361263.4_5'Flank|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000380747.1_Silent_p.A55A|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_Silent_p.A29A	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	39					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				CCTTCGCTGCTGCCTTTTTCG	0.547																																					p.A39A		Atlas-SNP	.											.	HMGN1	8	.	0			c.A117T						.						89.0	87.0	88.0					21																	40720227		2203	4300	6503	SO:0001819	synonymous_variant	3150	exon4			CGCTGCTGCCTTT		CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.117A>T	chr21.hg19:g.40720227T>A		102.0	0.0		80.0	33.0	NM_004965	Q3KQR8	Silent	SNP	ENST00000380749.5	hg19	CCDS33559.1																																																																																			.	.		0.547	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141645.2	NM_004965	
PRDM15	63977	hgsc.bcm.edu	37	21	43281737	43281737	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:43281737T>G	ENST00000269844.3	-	7	936	c.826A>C	c.(826-828)Atg>Ctg	p.M276L	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000447207.2_5'Flank	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AAAGTGTGCATGCTGGCACTT	0.562																																					p.M276L		Atlas-SNP	.											.	PRDM15	110	.	0			c.A826C						.						132.0	107.0	116.0					21																	43281737		2203	4300	6503	SO:0001583	missense	63977	exon7			TGTGCATGCTGGC	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.826A>C	chr21.hg19:g.43281737T>G	ENSP00000269844:p.Met276Leu	75.0	0.0		59.0	21.0	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	hg19	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	T	7.481	0.648763	0.14516	.	.	ENSG00000141956	ENST00000269844	T	0.06933	3.24	2.16	-3.48	0.04739	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41448	-0.9508	9	0.62326	D	0.03	.	0.5087	0.00591	0.1665:0.2405:0.2397:0.3532	.	276	P57071	PRD15_HUMAN	L	276	ENSP00000269844:M276L	ENSP00000269844:M276L	M	-	1	0	PRDM15	42154806	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.553000	0.06012	-0.764000	0.04651	-0.337000	0.08149	ATG	.	.		0.562	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
KRTAP10-4	386672	hgsc.bcm.edu	37	21	45994365	45994365	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:45994365T>C	ENST00000400374.3	+	1	760	c.730T>C	c.(730-732)Tct>Cct	p.S244P	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	244	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCCTGTGTGCTCTGAGGATTC	0.632																																					p.S244P		Atlas-SNP	.											.	KRTAP10-4	44	.	0			c.T730C						.						105.0	107.0	107.0					21																	45994365		2203	4300	6503	SO:0001583	missense	386672	exon1			GTGTGCTCTGAGG	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.730T>C	chr21.hg19:g.45994365T>C	ENSP00000383225:p.Ser244Pro	33.0	0.0		34.0	14.0	NM_198687	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	hg19	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	1.107	-0.659226	0.03454	.	.	ENSG00000215454	ENST00000400374	T	0.00892	5.57	2.13	0.969	0.19686	.	.	.	.	.	T	0.01695	0.0054	M	0.84082	2.675	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.39375	-0.9617	9	0.66056	D	0.02	.	3.8286	0.08865	0.0:0.1934:0.0:0.8066	.	244	P60372	KR104_HUMAN	P	244	ENSP00000383225:S244P	ENSP00000383225:S244P	S	+	1	0	KRTAP10-4	44818793	0.000000	0.05858	0.024000	0.17045	0.139000	0.21198	0.046000	0.14035	0.275000	0.22094	0.413000	0.27773	TCT	.	.		0.632	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
KRTAP12-2	353323	hgsc.bcm.edu	37	21	46086475	46086475	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:46086475C>A	ENST00000360770.3	-	1	369	c.329G>T	c.(328-330)tGc>tTc	p.C110F	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	110	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACAGGCCTGCAGCTCACAGG	0.637																																					p.C110F		Atlas-SNP	.											.	KRTAP12-2	10	.	0			c.G329T						.						58.0	66.0	64.0					21																	46086475		2166	4252	6418	SO:0001583	missense	353323	exon1			GGCCTGCAGCTCA	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.329G>T	chr21.hg19:g.46086475C>A	ENSP00000354001:p.Cys110Phe	88.0	0.0		68.0	23.0	NM_181684	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	hg19	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	c	14.56	2.572082	0.45798	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.07114	3.22	3.55	2.64	0.31445	.	.	.	.	.	T	0.35364	0.0929	M	0.93150	3.385	0.20764	N	0.999854	D	0.76494	0.999	D	0.71870	0.975	T	0.19224	-1.0312	9	0.87932	D	0	.	10.4991	0.44796	0.0:0.8001:0.1999:0.0	.	110	P59991	KR122_HUMAN	F	110;60	ENSP00000354001:C110F	ENSP00000354001:C110F	C	-	2	0	KRTAP12-2	44910903	0.957000	0.32711	0.339000	0.25562	0.073000	0.16967	0.370000	0.20433	0.442000	0.26555	0.407000	0.27541	TGC	.	.		0.637	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684	
COL6A2	1292	hgsc.bcm.edu	37	21	47552138	47552138	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:47552138T>A	ENST00000300527.4	+	28	2836	c.2732T>A	c.(2731-2733)cTg>cAg	p.L911Q		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	911	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACACAATACCTGAACTCCTTC	0.682																																					p.L911Q		Atlas-SNP	.											.	COL6A2	351	.	0			c.T2732A						.						18.0	19.0	19.0					21																	47552138		2192	4296	6488	SO:0001583	missense	1292	exon28			AATACCTGAACTC	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2732T>A	chr21.hg19:g.47552138T>A	ENSP00000300527:p.Leu911Gln	41.0	0.0		23.0	21.0	NM_001849	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	hg19	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493590	0.26774	.	.	ENSG00000142173	ENST00000300527	T	0.79033	-1.23	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.440483	0.22437	U	0.060061	D	0.84474	0.5480	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.84998	0.0898	10	0.87932	D	0	-28.1939	8.7972	0.34887	0.1681:0.0:0.0:0.8319	.	911	P12110	CO6A2_HUMAN	Q	911	ENSP00000300527:L911Q	ENSP00000300527:L911Q	L	+	2	0	COL6A2	46376566	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	5.900000	0.69853	1.541000	0.49316	0.260000	0.18958	CTG	.	.		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
C21orf58	54058	hgsc.bcm.edu	37	21	47735441	47735441	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr21:47735441C>T	ENST00000291691.7	-	4	1527	c.391G>A	c.(391-393)Gat>Aat	p.D131N	C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.D48N|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397679.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	131										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TGCAGGGCATCGTCCGGCCGG	0.597																																					p.D131N		Atlas-SNP	.											.	C21orf58	25	.	0			c.G391A						.						109.0	81.0	90.0					21																	47735441		2203	4300	6503	SO:0001583	missense	54058	exon4			GGGCATCGTCCGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.391G>A	chr21.hg19:g.47735441C>T	ENSP00000291691:p.Asp131Asn	77.0	0.0		35.0	28.0	NM_058180	B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	hg19	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082236	0.55861	.	.	ENSG00000160298	ENST00000417060;ENST00000291691;ENST00000397685	T;T;T	0.21543	2.0;2.0;2.0	4.98	-0.15	0.13416	.	1.246520	0.06189	N	0.680903	T	0.19248	0.0462	L	0.52573	1.65	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.34725	-0.9817	10	0.62326	D	0.03	0.0	4.6313	0.12502	0.0:0.4345:0.3015:0.264	.	131;131	P58505;P58505-2	CU058_HUMAN;.	N	93;131;48	ENSP00000402356:D93N;ENSP00000291691:D131N;ENSP00000380801:D48N	ENSP00000291691:D131N	D	-	1	0	C21orf58	46559869	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.998000	0.03701	-0.380000	0.07894	-0.126000	0.14955	GAT	.	.		0.597	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180	
GNB1L	54584	hgsc.bcm.edu	37	22	19808139	19808139	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:19808139T>A	ENST00000329517.6	-	4	472	c.236A>T	c.(235-237)cAg>cTg	p.Q79L	GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79L|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79L|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657																																					p.Q79L		Atlas-SNP	.											GNB1L,NS,carcinoma,0,1	GNB1L	34	.	1	Substitution - Missense(1)	prostate(1)	c.A236T						.						28.0	33.0	32.0					22																	19808139		2203	4299	6502	SO:0001583	missense	54584	exon4			CGCCCCTGGGGCA	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.236A>T	chr22.hg19:g.19808139T>A	ENSP00000331313:p.Gln79Leu	107.0	0.0		82.0	32.0	NM_053004	Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	hg19	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.605604	0.28623	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.37058	1.22;1.22;5.0	5.57	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.771754	0.11573	U	0.550516	T	0.24967	0.0606	L	0.46157	1.445	0.19775	N	0.999957	B	0.32160	0.358	B	0.23716	0.048	T	0.33266	-0.9875	10	0.87932	D	0	-16.2102	1.8293	0.03127	0.1681:0.0893:0.1757:0.5669	.	79	Q9BYB4	GNB1L_HUMAN	L	79	ENSP00000331313:Q79L;ENSP00000385154:Q79L;ENSP00000384626:Q79L	ENSP00000331313:Q79L	Q	-	2	0	GNB1L	18188139	0.348000	0.24861	0.734000	0.30879	0.972000	0.66771	0.530000	0.23036	0.356000	0.24157	0.455000	0.32223	CAG	.	.		0.657	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1		
P2RX6	9127	hgsc.bcm.edu	37	22	21380894	21380894	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:21380894C>A	ENST00000413302.2	+	12	1462	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.S412S|P2RX6_ENST00000443995.3_Silent_p.S385S|P2RX6_ENST00000336296.2_Silent_p.S428S			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	438					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CAACCCATTCCGGGAGCCTGT	0.637																																					p.S438S		Atlas-SNP	.											.	.	.	.	0			c.C1314A						.						34.0	29.0	31.0					22																	21380894		2200	4287	6487	SO:0001819	synonymous_variant	9127	exon12			CCATTCCGGGAGC		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1314C>A	chr22.hg19:g.21380894C>A		96.0	0.0		72.0	26.0	NM_005446	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	hg19	CCDS13788.2																																																																																			.	.		0.637	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446	
PRAME	23532	hgsc.bcm.edu	37	22	22892325	22892325	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:22892325A>G	ENST00000398741.1	-	5	1082	c.776T>C	c.(775-777)aTg>aCg	p.M259T	PRAME_ENST00000402697.1_Missense_Mutation_p.M259T|PRAME_ENST00000398743.2_Missense_Mutation_p.M259T|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000424204.2_Missense_Mutation_p.M243T|PRAME_ENST00000405655.3_Missense_Mutation_p.M259T|PRAME_ENST00000539862.1_Missense_Mutation_p.M243T|PRAME_ENST00000543184.1_Missense_Mutation_p.M259T	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	259					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGATTAATCATCTGGCCCAG	0.483																																					p.M259T	Melanoma(73;1707 1838 15168 27201)	Atlas-SNP	.											.	PRAME	78	.	0			c.T776C						.						98.0	91.0	93.0					22																	22892325		2203	4300	6503	SO:0001583	missense	23532	exon5			TTAATCATCTGGC	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.776T>C	chr22.hg19:g.22892325A>G	ENSP00000381726:p.Met259Thr	75.0	0.0		80.0	32.0	NM_206954	B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	hg19	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819437	0.32145	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.00986	5.47;5.47;5.47;5.47;5.47;5.47;5.47	3.78	3.78	0.43462	.	0.115233	0.64402	D	0.000014	T	0.05456	0.0144	M	0.89030	3	0.26454	N	0.975553	D	0.71674	0.998	D	0.68192	0.956	T	0.02942	-1.1091	10	0.87932	D	0	.	9.1966	0.37231	1.0:0.0:0.0:0.0	.	259	P78395	PRAME_HUMAN	T	259;259;259;259;243;259;243	ENSP00000381728:M259T;ENSP00000445675:M259T;ENSP00000381726:M259T;ENSP00000384343:M259T;ENSP00000445097:M243T;ENSP00000385198:M259T;ENSP00000407342:M243T	ENSP00000381726:M259T	M	-	2	0	PRAME	21222325	0.996000	0.38824	0.990000	0.47175	0.022000	0.10575	2.845000	0.48254	1.944000	0.56390	0.533000	0.62120	ATG	.	.		0.483	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
SUSD2	56241	hgsc.bcm.edu	37	22	24584255	24584255	+	Missense_Mutation	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:24584255G>A	ENST00000358321.3	+	14	2665	c.2404G>A	c.(2404-2406)Gcg>Acg	p.A802T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	802					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGCGGCGGTTGCGCTCGTCTA	0.677																																					p.A802T		Atlas-SNP	.											.	SUSD2	68	.	0			c.G2404A						.						57.0	60.0	59.0					22																	24584255		2203	4299	6502	SO:0001583	missense	56241	exon14			GCGGTTGCGCTCG	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2404G>A	chr22.hg19:g.24584255G>A	ENSP00000351075:p.Ala802Thr	36.0	0.0		31.0	18.0	NM_019601	Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	hg19	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424638	0.25639	.	.	ENSG00000099994	ENST00000358321	T	0.20598	2.06	4.71	-8.18	0.01053	.	0.772302	0.11865	N	0.521959	T	0.06325	0.0163	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31586	-0.9938	10	0.18276	T	0.48	-5.8995	0.1339	0.00076	0.3238:0.2287:0.2035:0.244	.	802	Q9UGT4	SUSD2_HUMAN	T	802	ENSP00000351075:A802T	ENSP00000351075:A802T	A	+	1	0	SUSD2	22914255	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.219000	0.09228	-1.172000	0.02762	-1.297000	0.01338	GCG	.	.		0.677	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601	
GGT5	2687	hgsc.bcm.edu	37	22	24629889	24629889	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:24629889A>T	ENST00000327365.4	-	2	673	c.257T>A	c.(256-258)aTg>aAg	p.M86K	GGT5_ENST00000398292.3_Missense_Mutation_p.M86K|GGT5_ENST00000263112.7_Missense_Mutation_p.M86K|GGT5_ENST00000418439.2_Intron	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	86					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCCAGGCCCATGCTCTGAGG	0.612																																					p.M86K		Atlas-SNP	.											.	GGT5	61	.	0			c.T257A						.						114.0	92.0	100.0					22																	24629889		2203	4300	6503	SO:0001583	missense	2687	exon2			AGGCCCATGCTCT	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.257T>A	chr22.hg19:g.24629889A>T	ENSP00000330080:p.Met86Lys	101.0	0.0		111.0	54.0	NM_001099782	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	hg19	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889803	0.72524	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292	T;T;T	0.06371	3.31;3.31;3.31	4.87	2.68	0.31781	.	0.128752	0.64402	D	0.000002	T	0.22085	0.0532	M	0.91406	3.205	0.80722	D	1	P;P;B;P	0.35575	0.454;0.51;0.336;0.51	B;P;B;P	0.48982	0.36;0.597;0.222;0.597	T	0.00307	-1.1830	10	0.62326	D	0.03	-12.8913	8.8518	0.35203	0.864:0.0:0.136:0.0	.	86;86;86;86	P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;GGT5_HUMAN	K	86;86;1;86	ENSP00000330080:M86K;ENSP00000263112:M86K;ENSP00000381340:M86K	ENSP00000263112:M86K	M	-	2	0	GGT5	22959889	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.327000	0.52045	0.315000	0.23110	0.254000	0.18369	ATG	.	.		0.612	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121	
TMEM211	255349	hgsc.bcm.edu	37	22	25334227	25334227	+	Missense_Mutation	SNP	A	A	T	rs112354981		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:25334227A>T	ENST00000423535.1	-	2	228	c.229T>A	c.(229-231)Tgg>Agg	p.W77R	TMEM211_ENST00000382744.1_Missense_Mutation_p.W6R|TMEM211_ENST00000407886.1_Missense_Mutation_p.W6R			Q6ICI0	TM211_HUMAN	transmembrane protein 211	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AACAGGAGCCAGCCTCCGAGG	0.577																																					p.W6R		Atlas-SNP	.											.	TMEM211	16	.	0			c.T16A						.						64.0	59.0	61.0					22																	25334227		2203	4300	6503	SO:0001583	missense	255349	exon2			GGAGCCAGCCTCC		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.229T>A	chr22.hg19:g.25334227A>T	ENSP00000387813:p.Trp77Arg	26.0	0.0		33.0	16.0	NM_001001663		Missense_Mutation	SNP	ENST00000423535.1	hg19		.	.	.	.	.	.	.	.	.	.	A	17.74	3.464111	0.63513	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.78126	-1.15;-0.56;-1.15	4.06	4.06	0.47325	.	0.000000	0.45126	D	0.000395	D	0.85465	0.5703	M	0.69823	2.125	0.44162	D	0.99696	D	0.76494	0.999	D	0.72338	0.977	D	0.86752	0.1961	10	0.72032	D	0.01	-29.1687	11.4718	0.50272	1.0:0.0:0.0:0.0	.	77	Q6ICI0	TM211_HUMAN	R	6;77;6	ENSP00000385494:W6R;ENSP00000387813:W77R;ENSP00000372192:W6R	ENSP00000372192:W6R	W	-	1	0	TMEM211	23664227	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.917000	0.48821	1.872000	0.54250	0.440000	0.28878	TGG	.	A|0.500;G|0.500		0.577	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663	
KIAA1671	85379	hgsc.bcm.edu	37	22	25581013	25581013	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:25581013A>G	ENST00000406486.4	+	12	5656	c.5269A>G	c.(5269-5271)Agc>Ggc	p.S1757G	KIAA1671_ENST00000358431.3_Missense_Mutation_p.S1757G|KIAA1671_ENST00000401395.1_Missense_Mutation_p.S264G			Q9BY89	K1671_HUMAN	KIAA1671	1757										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						CCAACCCAAGAGCCCCAAGTC	0.632																																					p.S1757G		Atlas-SNP	.											.	KIAA1671	28	.	0			c.A5269G						.						21.0	27.0	25.0					22																	25581013		692	1591	2283	SO:0001583	missense	85379	exon9			CCCAAGAGCCCCA		CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.5269A>G	chr22.hg19:g.25581013A>G	ENSP00000385152:p.Ser1757Gly	139.0	0.0		106.0	40.0	NM_001145206	B0QYF2|B7ZW08|Q5THZ5	Missense_Mutation	SNP	ENST00000406486.4	hg19	CCDS46676.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269544	0.40095	.	.	ENSG00000197077	ENST00000406486;ENST00000358431;ENST00000401395	.	.	.	4.54	2.16	0.27623	.	0.860828	0.10298	N	0.691488	T	0.39655	0.1086	M	0.63843	1.955	0.32192	N	0.578963	B;B	0.34329	0.287;0.449	B;B	0.30495	0.116;0.107	T	0.52697	-0.8541	9	0.72032	D	0.01	.	2.8888	0.05670	0.519:0.0:0.1451:0.3358	.	1757;264	Q9BY89;Q9BY89-2	K1671_HUMAN;.	G	1757;1757;264	.	ENSP00000351207:S1757G	S	+	1	0	KIAA1671	23911013	0.994000	0.37717	0.996000	0.52242	0.774000	0.43823	1.625000	0.37029	0.558000	0.29135	-0.408000	0.06270	AGC	.	.		0.632	KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320306.6	NM_001145206	
MYO18B	84700	hgsc.bcm.edu	37	22	26423048	26423048	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:26423048A>T	ENST00000407587.2	+	43	7280	c.7111A>T	c.(7111-7113)Aca>Tca	p.T2371S	MYO18B_ENST00000335473.7_Missense_Mutation_p.T2370S|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2370S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2370						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTCCGACCACACCCAGGGA	0.582																																					p.T2370S		Atlas-SNP	.											.	MYO18B	322	.	0			c.A7108T						.						91.0	99.0	97.0					22																	26423048		1994	4167	6161	SO:0001583	missense	84700	exon43			CCGACCACACCCA	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7111A>T	chr22.hg19:g.26423048A>T	ENSP00000386096:p.Thr2371Ser	56.0	0.0		56.0	25.0	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	hg19		.	.	.	.	.	.	.	.	.	.	A	4.875	0.162662	0.09287	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87179	-2.2;-2.2;-2.22	4.86	-8.03	0.01114	.	2.664100	0.01326	N	0.011097	T	0.71126	0.3303	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.0;0.0;0.002;0.001	B;B;B;B;B	0.08055	0.002;0.001;0.001;0.003;0.001	T	0.64744	-0.6335	10	0.10636	T	0.68	.	11.9263	0.52820	0.1335:0.2192:0.6473:0.0	.	1883;2372;2370;2371;2370	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	S	2370;2370;2371	ENSP00000441229:T2370S;ENSP00000334563:T2370S;ENSP00000386096:T2371S	ENSP00000334563:T2370S	T	+	1	0	MYO18B	24753048	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-0.685000	0.05167	-1.742000	0.01342	-0.464000	0.05259	ACA	.	.		0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	hgsc.bcm.edu	37	22	26688929	26688929	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:26688929A>T	ENST00000248933.6	+	2	747	c.652A>T	c.(652-654)Agg>Tgg	p.R218W	SEZ6L_ENST00000360929.3_Missense_Mutation_p.R218W|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R218W|SEZ6L_ENST00000402979.1_De_novo_Start_InFrame|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R218W|SEZ6L_ENST00000403121.1_De_novo_Start_InFrame|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R218W			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	218					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACTCCCCCAGAGGCCAGAACC	0.642																																					p.R218W		Atlas-SNP	.											.	SEZ6L	174	.	0			c.A652T						.						39.0	44.0	42.0					22																	26688929		2199	4293	6492	SO:0001583	missense	23544	exon2			CCCCAGAGGCCAG	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.652A>T	chr22.hg19:g.26688929A>T	ENSP00000248933:p.Arg218Trp	156.0	0.0		84.0	38.0	NM_021115	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	hg19	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221691	0.39300	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.27557	1.9;2.01;2.1;1.9;1.66	3.84	0.415	0.16411	.	0.857165	0.09894	U	0.741905	T	0.24470	0.0593	N	0.08118	0	0.21064	N	0.999792	P;P;D;D;P;P	0.63046	0.953;0.953;0.992;0.992;0.953;0.953	B;B;P;P;B;B	0.58970	0.43;0.315;0.849;0.849;0.315;0.315	T	0.13335	-1.0513	10	0.38643	T	0.18	.	4.2931	0.10888	0.6277:0.1733:0.199:0.0	.	218;218;218;218;218;218	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	W	218	ENSP00000384772:R218W;ENSP00000437037:R218W;ENSP00000354185:R218W;ENSP00000248933:R218W;ENSP00000342661:R218W	ENSP00000248933:R218W	R	+	1	2	SEZ6L	25018929	0.000000	0.05858	0.159000	0.22649	0.448000	0.32197	0.170000	0.16663	-0.082000	0.12640	0.333000	0.21579	AGG	.	.		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
HPS4	89781	hgsc.bcm.edu	37	22	26849269	26849269	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:26849269T>G	ENST00000398145.2	-	14	2673	c.2057A>C	c.(2056-2058)cAg>cCg	p.Q686P	HPS4_ENST00000493455.2_Intron|HPS4_ENST00000398141.1_Missense_Mutation_p.Q699P|HPS4_ENST00000336873.5_Missense_Mutation_p.Q686P|HPS4_ENST00000402105.3_Missense_Mutation_p.Q681P	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	686					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCGCCATCCTGAGGGTTTGG	0.592									Hermansky-Pudlak syndrome																												p.Q686P		Atlas-SNP	.											.	HPS4	123	.	0			c.A2057C						.						128.0	129.0	129.0					22																	26849269		2203	4300	6503	SO:0001583	missense	89781	exon14	Familial Cancer Database	HPS, HPS1-8	CCATCCTGAGGGT		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.2057A>C	chr22.hg19:g.26849269T>G	ENSP00000381213:p.Gln686Pro	67.0	0.0		41.0	20.0	NM_022081	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	hg19	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341917	0.41498	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.46	3.42	0.39159	.	0.134270	0.52532	D	0.000075	T	0.44030	0.1274	M	0.77103	2.36	0.41815	D	0.989993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.38972	-0.9636	10	0.87932	D	0	-9.7599	9.2347	0.37459	0.0:0.0856:0.0:0.9144	.	686;686;686;699;681	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	P	686;699;681;686	ENSP00000381213:Q686P;ENSP00000381210:Q699P;ENSP00000384185:Q681P;ENSP00000338457:Q686P	ENSP00000338457:Q686P	Q	-	2	0	HPS4	25179269	1.000000	0.71417	0.809000	0.32408	0.047000	0.14425	5.048000	0.64238	0.748000	0.32831	0.454000	0.30748	CAG	.	.		0.592	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081	
CRYBB1	1414	hgsc.bcm.edu	37	22	26995533	26995533	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:26995533T>A	ENST00000215939.2	-	6	810	c.680A>T	c.(679-681)cAg>cTg	p.Q227L	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	227	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACGCAGGGACTGCATCTGTGG	0.617																																					p.Q227L		Atlas-SNP	.											.	CRYBB1	49	.	0			c.A680T						.						69.0	59.0	62.0					22																	26995533		2203	4300	6503	SO:0001583	missense	1414	exon6			AGGGACTGCATCT		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.680A>T	chr22.hg19:g.26995533T>A	ENSP00000215939:p.Gln227Leu	112.0	0.0		97.0	40.0	NM_001887		Missense_Mutation	SNP	ENST00000215939.2	hg19	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637910	0.87760	.	.	ENSG00000100122	ENST00000215939	T	0.76709	-1.04	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.87394	0.6166	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88888	0.3344	10	0.66056	D	0.02	.	12.9201	0.58226	0.0:0.0:0.0:1.0	.	227	P53674	CRBB1_HUMAN	L	227	ENSP00000215939:Q227L	ENSP00000215939:Q227L	Q	-	2	0	CRYBB1	25325533	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	5.541000	0.67212	1.904000	0.55121	0.460000	0.39030	CAG	.	.		0.617	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
CRYBA4	1413	hgsc.bcm.edu	37	22	27026355	27026355	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:27026355A>T	ENST00000354760.3	+	6	530	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	165	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ATGTGCTGGAATGCGATCACC	0.542																																					p.E165D		Atlas-SNP	.											.	CRYBA4	33	.	0			c.A495T						.						121.0	97.0	105.0					22																	27026355		2203	4300	6503	SO:0001583	missense	1413	exon6			GCTGGAATGCGAT		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.495A>T	chr22.hg19:g.27026355A>T	ENSP00000346805:p.Glu165Asp	53.0	0.0		45.0	15.0	NM_001886	Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	hg19	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582644	0.46006	.	.	ENSG00000196431	ENST00000354760	T	0.78246	-1.16	4.4	2.01	0.26516	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	D	0.000005	D	0.87107	0.6095	M	0.91459	3.21	0.49389	D	0.999785	D	0.76494	0.999	D	0.97110	1.0	D	0.84807	0.0788	10	0.49607	T	0.09	.	5.0367	0.14438	0.3553:0.0:0.6447:0.0	.	165	P53673	CRBA4_HUMAN	D	165	ENSP00000346805:E165D	ENSP00000346805:E165D	E	+	3	2	CRYBA4	25356355	1.000000	0.71417	0.806000	0.32338	0.001000	0.01503	3.578000	0.53892	1.064000	0.40671	-0.364000	0.07487	GAA	.	.		0.542	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	
CHEK2	11200	hgsc.bcm.edu	37	22	29130640	29130640	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:29130640T>A	ENST00000405598.1	-	3	261	c.70A>T	c.(70-72)Agc>Tgc	p.S24C	CHEK2_ENST00000382566.1_Missense_Mutation_p.S24C|CHEK2_ENST00000403642.1_Missense_Mutation_p.S24C|CHEK2_ENST00000382578.1_Missense_Mutation_p.S24C|CHEK2_ENST00000328354.6_Missense_Mutation_p.S24C|CHEK2_ENST00000404276.1_Missense_Mutation_p.S24C|CHEK2_ENST00000348295.3_Missense_Mutation_p.S24C|CHEK2_ENST00000402731.1_Missense_Mutation_p.S24C|CHEK2_ENST00000382580.2_Missense_Mutation_p.S24C|CHEK2_ENST00000382565.1_Missense_Mutation_p.S24C|CHEK2_ENST00000544772.1_5'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	24					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGGTAACGCTGCCATGGGGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.S24C		Atlas-SNP	.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2	438	.	0			c.A70T						.						128.0	106.0	113.0					22																	29130640		2203	4300	6503	SO:0001583	missense	11200	exon2			TAACGCTGCCATG	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.70A>T	chr22.hg19:g.29130640T>A	ENSP00000386087:p.Ser24Cys	110.0	0.0		94.0	33.0	NM_145862	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	hg19	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546427	0.27652	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;D;D	0.94376	0.62;-0.28;-0.18;-3.41;-0.34;-0.34;-0.34;-0.29;-0.28;0.62;0.17;-3.35;-2.4	4.63	-9.27	0.00659	.	1.412880	0.04396	N	0.363279	T	0.82217	0.4989	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;P	0.45827	0.0;0.0;0.0;0.0;0.0;0.867	B;B;B;B;B;B	0.41202	0.001;0.001;0.0;0.001;0.0;0.35	T	0.80037	-0.1550	10	0.36615	T	0.2	11.8626	2.8334	0.05507	0.1094:0.1871:0.1963:0.5072	.	24;24;24;24;24;24	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	C	24;24;24;24;24;24;24;24;24;24;24;24;24;34	ENSP00000329012:S24C;ENSP00000372021:S24C;ENSP00000372006:S24C;ENSP00000372007:S24C;ENSP00000329178:S24C;ENSP00000385747:S24C;ENSP00000386087:S24C;ENSP00000372023:S24C;ENSP00000384919:S24C;ENSP00000384835:S24C;ENSP00000397478:S24C;ENSP00000408065:S24C;ENSP00000381099:S34C	ENSP00000329178:S24C	S	-	1	0	CHEK2	27460640	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.432000	0.02430	-2.458000	0.00538	-0.408000	0.06270	AGC	.	.		0.567	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
MORC2	22880	hgsc.bcm.edu	37	22	31333654	31333654	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:31333654A>G	ENST00000397641.3	-	15	1822	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	MORC2_ENST00000215862.4_Missense_Mutation_p.S410P|MORC2_ENST00000469915.1_Intron			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	472						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGTTGGCAGAGAGGTAGCCA	0.547																																					p.S410P		Atlas-SNP	.											.	MORC2	78	.	0			c.T1228C						.						69.0	65.0	66.0					22																	31333654		2203	4300	6503	SO:0001583	missense	22880	exon16			TGGCAGAGAGGTA	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1414T>C	chr22.hg19:g.31333654A>G	ENSP00000380763:p.Ser472Pro	38.0	0.0		44.0	19.0	NM_014941	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	hg19		.	.	.	.	.	.	.	.	.	.	A	29.0	4.968457	0.92855	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14144	2.53;2.53	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.21518	-1.0243	10	0.72032	D	0.01	.	15.8945	0.79325	1.0:0.0:0.0:0.0	.	472	Q9Y6X9	MORC2_HUMAN	P	472;410	ENSP00000380763:S472P;ENSP00000215862:S410P	ENSP00000215862:S410P	S	-	1	0	MORC2	29663654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.210000	0.71456	0.454000	0.30748	TCT	.	.		0.547	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
BPIFC	254240	hgsc.bcm.edu	37	22	32828474	32828474	+	Missense_Mutation	SNP	C	C	A	rs374301481		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:32828474C>A	ENST00000397452.1	-	11	1145	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.E345D|BPIFC_ENST00000534972.1_Missense_Mutation_p.E69D			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	345						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TTATGGGAGGCTCTGTGGCCA	0.493																																					p.E345D		Atlas-SNP	.											.	.	.	.	0			c.G1035T						.						261.0	242.0	248.0					22																	32828474		2203	4300	6503	SO:0001583	missense	254240	exon10			GGGAGGCTCTGTG	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1035G>T	chr22.hg19:g.32828474C>A	ENSP00000380594:p.Glu345Asp	111.0	0.0		99.0	46.0	NM_174932	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	hg19	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633996	0.29068	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.07216	3.21;3.21;3.21	6.07	-1.39	0.08997	.	0.403397	0.29466	N	0.012069	T	0.08670	0.0215	M	0.76838	2.35	0.22127	N	0.999344	P	0.36354	0.549	B	0.37198	0.243	T	0.30268	-0.9984	10	0.15499	T	0.54	-7.3211	5.3781	0.16176	0.1339:0.4605:0.0:0.4056	.	345	Q8NFQ6	BPIFC_HUMAN	D	345;345;69	ENSP00000380594:E345D;ENSP00000300399:E345D;ENSP00000439123:E69D	ENSP00000300399:E345D	E	-	3	2	BPIFC	31158474	0.700000	0.27796	0.979000	0.43373	0.115000	0.19883	0.077000	0.14738	0.159000	0.19401	0.650000	0.86243	GAG	.	.		0.493	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
SYN3	8224	hgsc.bcm.edu	37	22	32914296	32914296	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:32914296A>G	ENST00000358763.2	-	13	1586	c.1344T>C	c.(1342-1344)ccT>ccC	p.P448P	SYN3_ENST00000332840.5_Silent_p.P448P|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	448	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGGGGCTGAGGAGACTGAG	0.527																																					p.P448P		Atlas-SNP	.											.	SYN3	77	.	0			c.T1344C						.						45.0	56.0	52.0					22																	32914296		2203	4300	6503	SO:0001819	synonymous_variant	8224	exon12			GGGCTGAGGAGAC	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1344T>C	chr22.hg19:g.32914296A>G		22.0	0.0		25.0	12.0	NM_003490	B1B1F9	Silent	SNP	ENST00000358763.2	hg19	CCDS13908.1																																																																																			.	.		0.527	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4		
MYH9	4627	hgsc.bcm.edu	37	22	36684453	36684453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:36684453C>A	ENST00000216181.5	-	34	5007	c.4777G>T	c.(4777-4779)Gag>Tag	p.E1593*	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1593					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCTCCATCTCCCGCACCTGG	0.622			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.E1593X		Atlas-SNP	.		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	MYH9	225	.	0			c.G4777T						.						67.0	57.0	61.0					22																	36684453		2203	4300	6503	SO:0001587	stop_gained	4627	exon34	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	CCATCTCCCGCAC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4777G>T	chr22.hg19:g.36684453C>A	ENSP00000216181:p.Glu1593*	25.0	0.0		26.0	11.0	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	ENST00000216181.5	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	47	13.370925	0.99738	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	1015;195;1593	.	ENSP00000216181:E1593X	E	-	1	0	MYH9	35014399	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	GAG	.	.		0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
EIF3D	8664	hgsc.bcm.edu	37	22	36920644	36920644	+	Splice_Site	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:36920644T>A	ENST00000216190.8	-	4	675	c.305A>T	c.(304-306)cAg>cTg	p.Q102L	EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Splice_Site_p.Q102L	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TTGGCCTACCTGGGCAAATCT	0.507																																					p.Q102L		Atlas-SNP	.											.	EIF3D	37	.	0			c.A305T						.						125.0	104.0	111.0					22																	36920644		2203	4300	6503	SO:0001630	splice_region_variant	8664	exon4			CCTACCTGGGCAA	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.306+1A>T	chr22.hg19:g.36920644T>A		75.0	0.0		56.0	28.0	NM_003753		Missense_Mutation	SNP	ENST00000216190.8	hg19	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.838548	0.51057	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.43757	1.38	0.80722	D	1	B	0.12630	0.006	B	0.14023	0.01	T	0.50224	-0.8853	9	0.19590	T	0.45	-0.2562	16.5582	0.84512	0.0:0.0:0.0:1.0	.	102	O15371	EIF3D_HUMAN	L	102	.	ENSP00000216190:Q102L	Q	-	2	0	EIF3D	35250590	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.755000	0.85180	2.308000	0.77769	0.533000	0.62120	CAG	.	.		0.507	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1		Missense_Mutation
ELFN2	114794	hgsc.bcm.edu	37	22	37769351	37769351	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:37769351T>A	ENST00000402918.2	-	3	3009	c.2224A>T	c.(2224-2226)Acc>Tcc	p.T742S	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	742					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGCGAGTAGGTGGAGTCACGC	0.642																																					p.T742S		Atlas-SNP	.											.	ELFN2	89	.	0			c.A2224T						.						67.0	62.0	64.0					22																	37769351		2203	4300	6503	SO:0001583	missense	114794	exon3			AGTAGGTGGAGTC	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2224A>T	chr22.hg19:g.37769351T>A	ENSP00000385277:p.Thr742Ser	51.0	0.0		44.0	18.0	NM_052906	Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	hg19	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	T	9.270	1.045446	0.19748	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.49139	0.79;0.79	4.63	-4.34	0.03666	.	0.512774	0.22551	N	0.058585	T	0.18299	0.0439	N	0.02011	-0.69	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.42905	T	0.14	-24.9305	12.5652	0.56306	0.0:0.4851:0.0:0.5149	.	742	Q5R3F8	PPR29_HUMAN	S	742	ENSP00000300147:T742S;ENSP00000385277:T742S	ENSP00000300147:T742S	T	-	1	0	ELFN2	36099297	1.000000	0.71417	0.758000	0.31321	0.982000	0.71751	0.632000	0.24583	-1.053000	0.03218	-0.372000	0.07161	ACC	.	.		0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
MICALL1	85377	hgsc.bcm.edu	37	22	38318312	38318312	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:38318312C>A	ENST00000215957.6	+	6	1029	c.903C>A	c.(901-903)ccC>ccA	p.P301P		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	301	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CGGGCCGCCCCACCCCTGCCC	0.721																																					p.P301P		Atlas-SNP	.											.	MICALL1	53	.	0			c.C903A						.						2.0	3.0	3.0					22																	38318312		1601	3463	5064	SO:0001819	synonymous_variant	85377	exon6			CCGCCCCACCCCT	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.903C>A	chr22.hg19:g.38318312C>A		20.0	0.0		23.0	12.0	NM_033386	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	hg19	CCDS13961.1																																																																																			.	.		0.721	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
APOBEC3D	140564	hgsc.bcm.edu	37	22	39421150	39421150	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:39421150A>C	ENST00000216099.8	+	3	693	c.286A>C	c.(286-288)Agg>Cgg	p.R96R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R96R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	96	CMP/dCMP deaminase zinc-binding 1.				defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GCCTGCTAACAGGCGCTTCCA	0.547																																					p.R96R		Atlas-SNP	.											.	APOBEC3D	61	.	0			c.A286C						.						102.0	100.0	101.0					22																	39421150		2202	4300	6502	SO:0001819	synonymous_variant	140564	exon3			GCTAACAGGCGCT	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.286A>C	chr22.hg19:g.39421150A>C		97.0	0.0		77.0	28.0	NM_152426	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	hg19	CCDS46709.1																																																																																			.	.		0.547	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426	
TTLL1	25809	hgsc.bcm.edu	37	22	43459928	43459928	+	Splice_Site	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:43459928C>A	ENST00000266254.7	-	7	879		c.e7-1		TTLL1_ENST00000331018.7_Splice_Site	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1						axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AAGCTTGTACCTAGGAGGGAA	0.438																																					.		Atlas-SNP	.											.	TTLL1	41	.	0			c.639-1G>T						.						159.0	153.0	155.0					22																	43459928		2203	4300	6503	SO:0001630	splice_region_variant	25809	exon8			TTGTACCTAGGAG	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.639-1G>T	chr22.hg19:g.43459928C>A		100.0	0.0		80.0	35.0	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Splice_Site	SNP	ENST00000266254.7	hg19	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770617	0.49680	.	.	ENSG00000100271	ENST00000495814;ENST00000331018;ENST00000266254	.	.	.	5.44	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9128	0.58189	0.0:0.9244:0.0:0.0756	.	.	.	.	.	-1	.	.	.	-	.	.	TTLL1	41789872	1.000000	0.71417	0.996000	0.52242	0.533000	0.34776	4.526000	0.60566	1.437000	0.47472	0.591000	0.81541	.	.	.		0.438	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	Intron
ARHGAP8	23779	hgsc.bcm.edu	37	22	45218295	45218295	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:45218295A>T	ENST00000389774.2	+	7	665	c.524A>T	c.(523-525)gAg>gTg	p.E175V	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E266V|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E354V|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E144V|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E354V|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E275V|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.E144V	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TACCTGAGTGAGCTCCACGAA	0.478																																					p.E266V		Atlas-SNP	.											.	PRR5-ARHGAP8	53	.	0			c.A797T						.						137.0	134.0	135.0					22																	45218295		2203	4300	6503	SO:0001583	missense	553158	exon9			TGAGTGAGCTCCA	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.524A>T	chr22.hg19:g.45218295A>T	ENSP00000374424:p.Glu175Val	118.0	0.0		66.0	26.0	NM_181334	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	hg19	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.75|13.75	2.331317|2.331317	0.41297|0.41297	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000336963;ENST00000356099|ENST00000515632	T;T;T;T;T;T;T|.	0.70631|.	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5|.	4.26|4.26	4.26|4.26	0.50523|0.50523	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.000000|.	0.33272|.	U|.	0.005096|.	T|T	0.72938|0.72938	0.3523|0.3523	M|M	0.78223|0.78223	2.4|2.4	0.47153|0.47153	D|D	0.999336|0.999336	D;P;D;D;D;D;D|.	0.76494|.	0.99;0.948;0.998;0.999;0.971;0.992;0.995|.	D;P;D;D;P;P;D|.	0.79784|.	0.92;0.859;0.939;0.993;0.816;0.906;0.934|.	T|T	0.74569|0.74569	-0.3622|-0.3622	10|5	0.87932|.	D|.	0|.	.|.	11.7684|11.7684	0.51943|0.51943	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	180;144;180;175;185;354;275|.	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;B1AHC4;B1AHC3|.	.;.;.;RHG08_HUMAN;.;.;.|.	V|C	275;354;354;266;175;144;144|198	ENSP00000354732:E275V;ENSP00000262731:E354V;ENSP00000429240:E354V;ENSP00000374423:E266V;ENSP00000374424:E175V;ENSP00000337287:E144V;ENSP00000348407:E144V|.	ENSP00000337287:E144V|.	E|S	+|+	2|1	0|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43596959|43596959	1.000000|1.000000	0.71417|0.71417	0.512000|0.512000	0.27736|0.27736	0.010000|0.010000	0.07245|0.07245	7.116000|7.116000	0.77119|0.77119	1.771000|1.771000	0.52183|0.52183	0.383000|0.383000	0.25322|0.25322	GAG|AGC	.	.		0.478	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701	
PKDREJ	10343	hgsc.bcm.edu	37	22	46657787	46657787	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:46657787A>G	ENST00000253255.5	-	1	1432	c.1433T>C	c.(1432-1434)tTg>tCg	p.L478S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	478	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTTAGGAACAAAGAAAATCT	0.398																																					p.L478S		Atlas-SNP	.											.	PKDREJ	195	.	0			c.T1433C						.						98.0	106.0	103.0					22																	46657787		2203	4300	6503	SO:0001583	missense	10343	exon1			AGGAACAAAGAAA	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1433T>C	chr22.hg19:g.46657787A>G	ENSP00000253255:p.Leu478Ser	73.0	0.0		54.0	26.0	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	hg19	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314310	0.40996	.	.	ENSG00000130943	ENST00000253255	T	0.80994	-1.44	5.18	5.18	0.71444	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.46442	D	0.000294	D	0.88254	0.6387	M	0.66939	2.045	0.36331	D	0.858856	D	0.89917	1.0	D	0.83275	0.996	D	0.91832	0.5476	10	0.87932	D	0	-17.7051	14.5202	0.67844	1.0:0.0:0.0:0.0	.	478	Q9NTG1	PKDRE_HUMAN	S	478	ENSP00000253255:L478S	ENSP00000253255:L478S	L	-	2	0	PKDREJ	45036451	0.923000	0.31300	0.339000	0.25562	0.003000	0.03518	6.507000	0.73717	2.082000	0.62665	0.533000	0.62120	TTG	.	.		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TBC1D22A	25771	hgsc.bcm.edu	37	22	47189485	47189485	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:47189485C>A	ENST00000337137.4	+	3	373	c.207C>A	c.(205-207)agC>agA	p.S69R	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S22R|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.S50R|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S22R|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.S69R|TBC1D22A_ENST00000472791.1_3'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	69							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAATACCAGCGATGCCTGGG	0.612																																					p.S69R		Atlas-SNP	.											.	TBC1D22A	54	.	0			c.C207A						.						67.0	62.0	63.0					22																	47189485		2203	4300	6503	SO:0001583	missense	25771	exon3			TACCAGCGATGCC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.207C>A	chr22.hg19:g.47189485C>A	ENSP00000336724:p.Ser69Arg	82.0	0.0		66.0	37.0	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	hg19	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919073	0.73098	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.51574	1.69;0.7;1.54;1.62;1.76	4.7	-4.9	0.03094	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.78049	2.395	0.51012	D	0.999904	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.77004	0.957;0.988;0.989;0.957	T	0.67256	-0.5716	10	0.66056	D	0.02	-12.6946	12.9514	0.58403	0.0:0.6093:0.0:0.3907	.	69;50;69;69	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	R	69;22;69;50;22	ENSP00000336724:S69R;ENSP00000370383:S22R;ENSP00000384036:S69R;ENSP00000347932:S50R;ENSP00000385634:S22R	ENSP00000336724:S69R	S	+	3	2	TBC1D22A	45568149	0.143000	0.22626	0.833000	0.33012	0.968000	0.65278	-0.612000	0.05616	-0.734000	0.04843	-0.639000	0.03973	AGC	.	.		0.612	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
MOV10L1	54456	hgsc.bcm.edu	37	22	50599429	50599429	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr22:50599429A>G	ENST00000262794.5	+	26	3582	c.3499A>G	c.(3499-3501)Aca>Gca	p.T1167A	MOV10L1_ENST00000395858.3_Missense_Mutation_p.T1121A|MOV10L1_ENST00000540615.1_Intron|MOV10L1_ENST00000395852.1_Missense_Mutation_p.T294A|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T1167A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1167					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATACAGTATTACAAACGGTGT	0.498																																					p.T1167A		Atlas-SNP	.											.	MOV10L1	238	.	0			c.A3499G						.						266.0	245.0	252.0					22																	50599429		2203	4300	6503	SO:0001583	missense	54456	exon26			AGTATTACAAACG	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3499A>G	chr22.hg19:g.50599429A>G	ENSP00000262794:p.Thr1167Ala	147.0	0.0		115.0	41.0	NM_018995	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	hg19	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.360565	0.01245	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395852	D;D;T;D	0.92149	-1.72;-1.72;-1.35;-2.98	5.14	2.96	0.34315	.	0.516685	0.23291	N	0.049795	T	0.80507	0.4636	N	0.17082	0.46	0.20764	N	0.99985	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.62511	-0.6839	10	0.09338	T	0.73	-14.3664	5.7805	0.18304	0.7378:0.1717:0.0906:0.0	.	294;1121;1167	Q9BXT6-2;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	A	1167;1167;1121;294	ENSP00000438978:T1167A;ENSP00000262794:T1167A;ENSP00000379199:T1121A;ENSP00000379193:T294A	ENSP00000262794:T1167A	T	+	1	0	MOV10L1	48941556	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	1.128000	0.31369	0.764000	0.33197	0.408000	0.27601	ACA	.	.		0.498	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
NLGN4X	57502	hgsc.bcm.edu	37	X	5810965	5810965	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:5810965T>A	ENST00000381095.3	-	6	2971	c.2344A>T	c.(2344-2346)Att>Ttt	p.I782F	NLGN4X_ENST00000275857.6_Missense_Mutation_p.I782F|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I802F|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I782F|NLGN4X_ENST00000381092.1_Missense_Mutation_p.I782F	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	782					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGTTTGGAATCATGGTGATG	0.532																																					p.I782F		Atlas-SNP	.											.	NLGN4X	191	.	0			c.A2344T						.						308.0	253.0	271.0					X																	5810965		2203	4300	6503	SO:0001583	missense	57502	exon6			TTGGAATCATGGT	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2344A>T	chrX.hg19:g.5810965T>A	ENSP00000370485:p.Ile782Phe	118.0	0.0		68.0	59.0	NM_181332	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	hg19	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825517	0.71143	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.82	3.82	0.43975	.	0.268763	0.19869	N	0.104233	T	0.35480	0.0933	M	0.74881	2.28	0.58432	D	0.999997	D;P;P	0.54601	0.967;0.911;0.947	P;P;P	0.52267	0.694;0.459;0.66	T	0.25363	-1.0134	10	0.87932	D	0	.	11.2516	0.49028	0.0:0.0:0.0:1.0	.	839;782;802	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	F	782;802;782;782;782	ENSP00000370485:I782F;ENSP00000370483:I802F;ENSP00000275857:I782F;ENSP00000370482:I782F;ENSP00000439203:I782F	ENSP00000275857:I782F	I	-	1	0	NLGN4X	5820965	1.000000	0.71417	0.950000	0.38849	0.966000	0.64601	6.912000	0.75753	1.222000	0.43521	0.417000	0.27973	ATT	.	.		0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
FAM9A	171482	hgsc.bcm.edu	37	X	8767070	8767070	+	Missense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:8767070T>A	ENST00000543214.1	-	3	292	c.157A>T	c.(157-159)Agg>Tgg	p.R53W	FAM9A_ENST00000381003.3_Missense_Mutation_p.R53W	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	53						nucleus (GO:0005634)		p.R53G(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GCAGCCTTCCTGCTGCGCTTC	0.562																																					p.R53W		Atlas-SNP	.											.	FAM9A	57	.	1	Substitution - Missense(1)	endometrium(1)	c.A157T						.						107.0	76.0	86.0					X																	8767070		2203	4300	6503	SO:0001583	missense	171482	exon3			CCTTCCTGCTGCG		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.157A>T	chrX.hg19:g.8767070T>A	ENSP00000440163:p.Arg53Trp	106.0	0.0		72.0	62.0	NM_174951	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	hg19	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	8.214	0.800994	0.16397	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.207	0.207	0.15214	.	.	.	.	.	T	0.26810	0.0656	L	0.34521	1.04	0.09310	N	1	P	0.50819	0.939	B	0.43680	0.427	T	0.14643	-1.0465	7	0.66056	D	0.02	.	.	.	.	.	53	Q8IZU1	FAM9A_HUMAN	W	53	.	ENSP00000370391:R53W	R	-	1	2	FAM9A	8727070	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	-0.238000	0.08977	0.234000	0.21139	0.231000	0.17811	AGG	.	.		0.562	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
TLR7	51284	hgsc.bcm.edu	37	X	12905637	12905637	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:12905637T>G	ENST00000380659.3	+	3	2149	c.2010T>G	c.(2008-2010)ttT>ttG	p.F670L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	670					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGGAGTTTTTGATGGTATGC	0.353																																					p.F670L		Atlas-SNP	.											.	TLR7	125	.	0			c.T2010G						.						78.0	85.0	82.0					X																	12905637		2203	4299	6502	SO:0001583	missense	51284	exon3			AGTTTTTGATGGT	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2010T>G	chrX.hg19:g.12905637T>G	ENSP00000370034:p.Phe670Leu	61.0	0.0		46.0	32.0	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	hg19	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991315	0.54041	.	.	ENSG00000196664	ENST00000380659	T	0.78003	-1.14	5.46	4.29	0.51040	.	0.060847	0.64402	D	0.000003	T	0.76205	0.3955	L	0.37850	1.14	0.51233	D	0.999918	P	0.39551	0.678	P	0.50109	0.631	T	0.72730	-0.4205	10	0.40728	T	0.16	.	10.547	0.45066	0.0:0.077:0.0:0.923	.	670	Q9NYK1	TLR7_HUMAN	L	670	ENSP00000370034:F670L	ENSP00000370034:F670L	F	+	3	2	TLR7	12815558	1.000000	0.71417	0.951000	0.38953	0.951000	0.60555	1.073000	0.30691	0.725000	0.32318	0.430000	0.28490	TTT	.	.		0.353	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TLR8	51311	hgsc.bcm.edu	37	X	12938413	12938413	+	Silent	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:12938413C>A	ENST00000218032.6	+	2	1341	c.1254C>A	c.(1252-1254)tcC>tcA	p.S418S	TLR8_ENST00000311912.5_Silent_p.S436S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	418					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S436S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AAAATTTCTCCAATCTGGAAA	0.353																																					p.S418S		Atlas-SNP	.											.	TLR8	134	.	1	Substitution - coding silent(1)	lung(1)	c.C1254A						.						49.0	54.0	52.0					X																	12938413		2199	4296	6495	SO:0001819	synonymous_variant	51311	exon2			TTTCTCCAATCTG	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1254C>A	chrX.hg19:g.12938413C>A		55.0	0.0		40.0	38.0	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	hg19	CCDS14152.1																																																																																			.	.		0.353	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
DDX53	168400	hgsc.bcm.edu	37	X	23019627	23019627	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:23019627A>G	ENST00000327968.5	+	1	1541	c.1453A>G	c.(1453-1455)Agc>Ggc	p.S485G	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	485	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TGACTTGTCAAGCGACTTCAA	0.418																																					p.S485G		Atlas-SNP	.											.	DDX53	76	.	0			c.A1453G						.						116.0	102.0	107.0					X																	23019627		2203	4300	6503	SO:0001583	missense	168400	exon1			TTGTCAAGCGACT	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1453A>G	chrX.hg19:g.23019627A>G	ENSP00000368667:p.Ser485Gly	115.0	0.0		80.0	74.0	NM_182699	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	hg19	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461223	0.63513	.	.	ENSG00000184735	ENST00000327968	T	0.04758	3.56	4.32	4.32	0.51571	Helicase, C-terminal (2);	0.043818	0.85682	D	0.000000	T	0.14227	0.0344	L	0.47190	1.495	0.49798	D	0.999822	D	0.89917	1.0	D	0.91635	0.999	T	0.00601	-1.1650	10	0.72032	D	0.01	-8.6362	10.8846	0.46960	1.0:0.0:0.0:0.0	.	485	Q86TM3	DDX53_HUMAN	G	485	ENSP00000368667:S485G	ENSP00000368667:S485G	S	+	1	0	DDX53	22929548	1.000000	0.71417	0.021000	0.16686	0.019000	0.09904	7.219000	0.78000	1.532000	0.49169	0.486000	0.48141	AGC	.	.		0.418	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
FAM47C	442444	hgsc.bcm.edu	37	X	37027900	37027900	+	Missense_Mutation	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:37027900C>T	ENST00000358047.3	+	1	1469	c.1417C>T	c.(1417-1419)Cat>Tat	p.H473Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	473										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGTGTCCCATCTCTGCCC	0.637																																					p.H473Y		Atlas-SNP	.											.	FAM47C	267	.	0			c.C1417T						.						65.0	62.0	63.0					X																	37027900		2202	4300	6502	SO:0001583	missense	442444	exon1			GTGTCCCATCTCT	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1417C>T	chrX.hg19:g.37027900C>T	ENSP00000367913:p.His473Tyr	54.0	0.0		50.0	46.0	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	hg19	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.290	1.050486	0.19827	.	.	ENSG00000198173	ENST00000358047	T	0.18960	2.18	1.44	-2.89	0.05665	.	.	.	.	.	T	0.35970	0.0950	M	0.76574	2.34	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.19353	-1.0308	9	0.62326	D	0.03	.	3.5628	0.07889	0.2386:0.572:0.0:0.1894	.	473	Q5HY64	FA47C_HUMAN	Y	473	ENSP00000367913:H473Y	ENSP00000367913:H473Y	H	+	1	0	FAM47C	36937821	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.387000	0.20718	-0.998000	0.03446	-0.572000	0.04151	CAT	.	.		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
UBA1	7317	hgsc.bcm.edu	37	X	47074244	47074244	+	Silent	SNP	G	G	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:47074244G>A	ENST00000335972.6	+	26	3276	c.3093G>A	c.(3091-3093)gtG>gtA	p.V1031V	UBA1_ENST00000377351.4_Silent_p.V1031V|UBA1_ENST00000377269.3_Silent_p.V479V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1031					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGCCACGTGCGGGCGCTGG	0.602																																					p.V1031V		Atlas-SNP	.											.	UBA1	89	.	0			c.G3093A						.						99.0	72.0	81.0					X																	47074244		2203	4300	6503	SO:0001819	synonymous_variant	7317	exon26			CCACGTGCGGGCG	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.3093G>A	chrX.hg19:g.47074244G>A		34.0	0.0		25.0	24.0	NM_153280	Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	hg19	CCDS14275.1																																																																																			.	.		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
SUV39H1	6839	hgsc.bcm.edu	37	X	48558575	48558575	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:48558575A>T	ENST00000376687.3	+	3	449	c.259A>T	c.(259-261)Aag>Tag	p.K87*	SUV39H1_ENST00000337852.6_Nonsense_Mutation_p.K98*|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.Q24L	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	87	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with SIRT1.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCGTATCCTCAAGCAGTTCCA	0.567																																					p.K87X		Atlas-SNP	.											.	SUV39H1	36	.	0			c.A259T						.						30.0	22.0	24.0					X																	48558575		2199	4298	6497	SO:0001587	stop_gained	6839	exon3			ATCCTCAAGCAGT	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.259A>T	chrX.hg19:g.48558575A>T	ENSP00000365877:p.Lys87*	135.0	1.0		115.0	104.0	NM_003173	B2R6E8|B4DST0|Q53G60|Q6FHK6	Nonsense_Mutation	SNP	ENST00000376687.3	hg19	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.309281|6.309281	0.97462|0.97462	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687|ENST00000448548;ENST00000453214	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.134893|.	0.49916|.	D|.	0.000136|.	.|T	.|0.41373	.|0.1156	.|.	.|.	.|.	0.24671|0.24671	N|N	0.993417|0.993417	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28235	.|-1.0050	.|5	0.02654|0.34782	T|T	1|0.22	.|.	11.3805|11.3805	0.49754|0.49754	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	98;87|86;24	.|.	ENSP00000337976:K98X|ENSP00000410043:Q86L	K|Q	+|+	1|2	0|0	SUV39H1|SUV39H1	48443519|48443519	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.815000|0.815000	0.46073|0.46073	2.367000|2.367000	0.44213|0.44213	1.584000|1.584000	0.49913|0.49913	0.409000|0.409000	0.27619|0.27619	AAG|CAA	.	.		0.567	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173	
GPR173	54328	hgsc.bcm.edu	37	X	53106453	53106453	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:53106453T>C	ENST00000332582.4	+	2	1141	c.650T>C	c.(649-651)aTg>aCg	p.M217T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	217					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CACCGCAAGATGAAGCCAGTG	0.592																																					p.M217T		Atlas-SNP	.											.	GPR173	66	.	0			c.T650C						.						23.0	22.0	22.0					X																	53106453		2196	4288	6484	SO:0001583	missense	54328	exon2			GCAAGATGAAGCC	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.650T>C	chrX.hg19:g.53106453T>C	ENSP00000331600:p.Met217Thr	20.0	0.0		30.0	27.0	NM_018969	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	hg19	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109921	0.56398	.	.	ENSG00000184194	ENST00000332582	T	0.71103	-0.54	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.77820	2.39	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.78723	-0.2093	10	0.12766	T	0.61	-11.4851	11.4995	0.50428	0.0:0.0:0.0:1.0	.	217	Q9NS66	GP173_HUMAN	T	217	ENSP00000331600:M217T	ENSP00000331600:M217T	M	+	2	0	GPR173	53123178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.614000	0.50241	0.430000	0.28490	ATG	.	.		0.592	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
TRO	7216	hgsc.bcm.edu	37	X	54955840	54955840	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:54955840A>T	ENST00000173898.7	+	12	2795	c.2683A>T	c.(2683-2685)Acc>Tcc	p.T895S	TRO_ENST00000375041.2_Missense_Mutation_p.T498S|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T426S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	895	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CATACTCAGCACCAGTGTCTG	0.557																																					p.T895S		Atlas-SNP	.											.	TRO	246	.	0			c.A2683T						.						69.0	63.0	65.0					X																	54955840		2087	4200	6287	SO:0001583	missense	7216	exon12			CTCAGCACCAGTG	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2683A>T	chrX.hg19:g.54955840A>T	ENSP00000173898:p.Thr895Ser	55.0	0.0		43.0	43.0	NM_001039705	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	hg19	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	7.125	0.578684	0.13686	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.13196	2.61;2.61;2.61	2.81	2.81	0.32909	.	.	.	.	.	T	0.27594	0.0678	L	0.50333	1.59	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.03051	-1.1078	9	0.56958	D	0.05	.	8.5314	0.33337	1.0:0.0:0.0:0.0	.	498;895	B1AKE9;Q12816	.;TROP_HUMAN	S	895;426;498	ENSP00000173898:T895S;ENSP00000405126:T426S;ENSP00000364181:T498S	ENSP00000173898:T895S	T	+	1	0	TRO	54972565	0.000000	0.05858	0.539000	0.28077	0.095000	0.18619	0.033000	0.13754	1.355000	0.45865	0.443000	0.29094	ACC	.	.		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
MTMR8	55613	hgsc.bcm.edu	37	X	63490847	63490847	+	Missense_Mutation	SNP	C	C	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:63490847C>G	ENST00000374852.3	-	13	1655	c.1588G>C	c.(1588-1590)Gat>Cat	p.D530H	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	530						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCATGCACATCTGTCTCCAGC	0.478																																					p.D530H		Atlas-SNP	.											.	MTMR8	178	.	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.G1588C						.						121.0	100.0	107.0					X																	63490847		2203	4300	6503	SO:0001583	missense	55613	exon13			GCACATCTGTCTC	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1588G>C	chrX.hg19:g.63490847C>G	ENSP00000363985:p.Asp530His	120.0	0.0		91.0	86.0	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	hg19	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.99|10.99	1.506647|1.506647	0.26949|0.26949	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.94330|.	-3.4|.	3.75|3.75	1.87|1.87	0.25490|0.25490	.|.	0.314036|.	0.20770|.	U|.	0.086009|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.02129|0.02129	-0.67|-0.67	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.31420|0.31420	-0.9944|-0.9944	10|5	0.08599|.	T|.	0.76|.	.|.	5.3298|5.3298	0.15926|0.15926	0.0:0.6106:0.0:0.3894|0.0:0.6106:0.0:0.3894	.|.	530|.	Q96EF0|.	MTMR8_HUMAN|.	H|T	530;416|333	ENSP00000363985:D530H|.	ENSP00000247400:D416H|.	D|R	-|-	1|2	0|0	MTMR8|MTMR8	63407572|63407572	0.009000|0.009000	0.17119|0.17119	0.008000|0.008000	0.14137|0.14137	0.989000|0.989000	0.77384|0.77384	0.350000|0.350000	0.20079|0.20079	0.523000|0.523000	0.28482|0.28482	0.594000|0.594000	0.82650|0.82650	GAT|AGA	.	.		0.478	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
AR	367	hgsc.bcm.edu	37	X	66937427	66937427	+	Silent	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:66937427A>C	ENST00000374690.3	+	5	2805	c.2281A>C	c.(2281-2283)Agg>Cgg	p.R761R	AR_ENST00000396043.2_Silent_p.R229R|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	760	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGTCAACTCCAGGATGCTCTA	0.537									Androgen Insensitivity Syndrome																												p.R761R		Atlas-SNP	.											.	AR	249	.	0			c.A2281C	GRCh37	CX034080	AR	X		.						134.0	95.0	108.0					X																	66937427		2203	4300	6503	SO:0001819	synonymous_variant	367	exon5	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AACTCCAGGATGC	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2281A>C	chrX.hg19:g.66937427A>C		58.0	0.0		58.0	52.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	hg19	CCDS14387.1																																																																																			.	.		0.537	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
RLIM	51132	hgsc.bcm.edu	37	X	73812565	73812565	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:73812565T>A	ENST00000332687.6	-	4	803	c.585A>T	c.(583-585)tcA>tcT	p.S195S	RLIM_ENST00000349225.2_Silent_p.S195S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	195					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACGCTTCAGTTGAATTTCGTT	0.483																																					p.S195S	Esophageal Squamous(169;1899 1923 14997 18818 32118)	Atlas-SNP	.											.	RLIM	90	.	0			c.A585T						.						183.0	156.0	165.0					X																	73812565		2203	4300	6503	SO:0001819	synonymous_variant	51132	exon5			TTCAGTTGAATTT	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.585A>T	chrX.hg19:g.73812565T>A		47.0	0.0		43.0	33.0	NM_183353	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	hg19	CCDS14427.1																																																																																			.	.		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
ATRX	546	hgsc.bcm.edu	37	X	76938245	76938245	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:76938245T>A	ENST00000373344.5	-	9	2717	c.2503A>T	c.(2503-2505)Aga>Tga	p.R835*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R797*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	835					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGGTGGTTCTGGcagcacca	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.R835X		Atlas-SNP	.		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833	.	1	Unknown(1)	bone(1)	c.A2503T						.						130.0	142.0	138.0					X																	76938245		2202	4293	6495	SO:0001587	stop_gained	546	exon9			TGGTTCTGGCAGC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2503A>T	chrX.hg19:g.76938245T>A	ENSP00000362441:p.Arg835*	54.0	0.0		53.0	52.0	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	hg19	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	39	7.446328	0.98289	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.401292	0.26816	N	0.022360	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0166	8.8438	0.35157	0.0:0.0846:0.0:0.9154	.	.	.	.	X	835;797;762	.	ENSP00000362441:R835X	R	-	1	2	ATRX	76824901	1.000000	0.71417	0.744000	0.31058	0.463000	0.32649	4.988000	0.63863	1.917000	0.55516	0.380000	0.24917	AGA	.	.		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
BRWD3	254065	hgsc.bcm.edu	37	X	79979304	79979304	+	Silent	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:79979304T>C	ENST00000373275.4	-	16	1809	c.1593A>G	c.(1591-1593)acA>acG	p.T531T	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	531					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATGAGAATCTGTGCAGGCAA	0.378																																					p.T531T		Atlas-SNP	.											.	BRWD3	251	.	0			c.A1593G						.						93.0	82.0	86.0					X																	79979304		2203	4300	6503	SO:0001819	synonymous_variant	254065	exon16			AGAATCTGTGCAG		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1593A>G	chrX.hg19:g.79979304T>C		52.0	0.0		47.0	45.0	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	hg19	CCDS14447.1																																																																																			.	.		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
RPS6KA6	27330	hgsc.bcm.edu	37	X	83390124	83390124	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:83390124A>C	ENST00000262752.2	-	7	603	c.596T>G	c.(595-597)cTg>cGg	p.L199R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L199R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	199	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCTGGCTTCAGGTCTCTATA	0.363																																					p.L199R		Atlas-SNP	.											.	RPS6KA6	116	.	0			c.T596G						.						50.0	45.0	47.0					X																	83390124		2203	4297	6500	SO:0001583	missense	27330	exon7			GGCTTCAGGTCTC	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.596T>G	chrX.hg19:g.83390124A>C	ENSP00000262752:p.Leu199Arg	301.0	0.0		260.0	233.0	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	hg19	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026606	0.75390	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.43294	0.95;0.95	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.77445	0.4131	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86094	0.1552	10	0.87932	D	0	.	13.5737	0.61862	1.0:0.0:0.0:0.0	.	199;199	B7ZL90;Q9UK32	.;KS6A6_HUMAN	R	199	ENSP00000262752:L199R;ENSP00000440830:L199R	ENSP00000262752:L199R	L	-	2	0	RPS6KA6	83276780	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.126000	0.94411	1.577000	0.49804	0.437000	0.28790	CTG	.	.		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
DACH2	117154	hgsc.bcm.edu	37	X	85769362	85769362	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:85769362G>T	ENST00000373125.4	+	3	608	c.608G>T	c.(607-609)gGc>gTc	p.G203V	DACH2_ENST00000508860.1_Missense_Mutation_p.G36V|DACH2_ENST00000373131.1_Missense_Mutation_p.G190V|DACH2_ENST00000510272.1_5'UTR	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	203					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCAGTCCCAGGCCTCTTATCG	0.478																																					p.G203V		Atlas-SNP	.											.	DACH2	263	.	0			c.G608T						.						49.0	41.0	44.0					X																	85769362		2203	4300	6503	SO:0001583	missense	117154	exon3			TCCCAGGCCTCTT	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.608G>T	chrX.hg19:g.85769362G>T	ENSP00000362217:p.Gly203Val	224.0	0.0		197.0	176.0	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	hg19	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206840	0.58343	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	D;D	0.87029	-2.19;-2.2	4.88	4.01	0.46588	.	0.163605	0.41938	D	0.000782	D	0.91054	0.7185	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.974;0.994;0.987	D	0.90175	0.4238	10	0.51188	T	0.08	.	12.126	0.53917	0.0857:0.0:0.9143:0.0	.	69;190;203	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	203;190;203;36;36	ENSP00000362223:G190V;ENSP00000362217:G203V	ENSP00000345134:G203V	G	+	2	0	DACH2	85656018	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.572000	0.74005	0.834000	0.34852	0.506000	0.49869	GGC	.	.		0.478	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
PCDH11X	27328	hgsc.bcm.edu	37	X	91873834	91873834	+	Silent	SNP	C	C	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:91873834C>T	ENST00000373094.1	+	7	4784	c.3939C>T	c.(3937-3939)ccC>ccT	p.P1313P	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1305P|PCDH11X_ENST00000298274.8_Silent_p.P1276P|PCDH11X_ENST00000361655.2_Silent_p.P1295P|PCDH11X_ENST00000373097.1_Silent_p.P1303P|PCDH11X_ENST00000373088.1_Silent_p.P1276P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1313					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACTTCATCCCAGTGATGATT	0.478																																					p.P1313P	NSCLC(38;925 1092 2571 38200 45895)	Atlas-SNP	.											.	PCDH11X	714	.	0			c.C3939T						.						182.0	166.0	171.0					X																	91873834		2203	4300	6503	SO:0001819	synonymous_variant	27328	exon7			TCATCCCAGTGAT	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3939C>T	chrX.hg19:g.91873834C>T		172.0	0.0		162.0	151.0	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	hg19	CCDS14461.1																																																																																			.	.		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
ARMCX3	51566	hgsc.bcm.edu	37	X	100880234	100880234	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:100880234A>T	ENST00000341189.4	+	5	1131	c.265A>T	c.(265-267)Aga>Tga	p.R89*	ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.R89*|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.R89*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	89					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGCTGGAACCagagctagggc	0.547																																					p.R89X		Atlas-SNP	.											.	ARMCX3	33	.	0			c.A265T						.						70.0	69.0	70.0					X																	100880234		2203	4300	6503	SO:0001587	stop_gained	51566	exon5			GGAACCAGAGCTA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.265A>T	chrX.hg19:g.100880234A>T	ENSP00000340672:p.Arg89*	37.0	0.0		30.0	29.0	NM_016607	Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	hg19	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	A	38	7.035055	0.98017	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.22	4.22	0.49857	.	0.611666	0.16813	N	0.198462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0219	8.7431	0.34569	1.0:0.0:0.0:0.0	.	.	.	.	X	89	.	.	R	+	1	2	ARMCX3	100766890	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.612000	0.54142	1.885000	0.54596	0.481000	0.45027	AGA	.	.		0.547	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607	
COL4A5	1287	hgsc.bcm.edu	37	X	107821343	107821343	+	Silent	SNP	T	T	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:107821343T>A	ENST00000361603.2	+	12	925	c.681T>A	c.(679-681)ggT>ggA	p.G227G	COL4A5_ENST00000328300.6_Silent_p.G227G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	227	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACCCAAAGGTGAAAAAGTGA	0.378									Alport syndrome with Diffuse Leiomyomatosis																												p.G227G		Atlas-SNP	.											.	COL4A5	262	.	0			c.T681A						.						37.0	37.0	37.0					X																	107821343		2185	4289	6474	SO:0001819	synonymous_variant	1287	exon12	Familial Cancer Database		CAAAGGTGAAAAA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.681T>A	chrX.hg19:g.107821343T>A		192.0	0.0		159.0	145.0	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	hg19	CCDS14543.1																																																																																			.	.		0.378	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
PAK3	5063	hgsc.bcm.edu	37	X	110391047	110391047	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:110391047T>C	ENST00000372010.1	+	8	846	c.404T>C	c.(403-405)cTa>cCa	p.L135P	PAK3_ENST00000425146.1_Missense_Mutation_p.L120P|PAK3_ENST00000360648.4_Missense_Mutation_p.L156P|PAK3_ENST00000372007.5_Missense_Mutation_p.L120P|PAK3_ENST00000262836.4_Missense_Mutation_p.L135P|PAK3_ENST00000518291.1_Missense_Mutation_p.L156P|PAK3_ENST00000519681.1_Missense_Mutation_p.L141P|PAK3_ENST00000446737.1_Missense_Mutation_p.L120P|PAK3_ENST00000417227.1_Missense_Mutation_p.L141P			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	135	Autoregulatory region. {ECO:0000250}.|Linker.			VLDV -> CSRC (in Ref. 2; AAF67008). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAAGCTGTTCTAGATGTTCTC	0.413										TSP Lung(19;0.15)																											p.L156P		Atlas-SNP	.											.	PAK3	179	.	0			c.T467C						.						116.0	100.0	105.0					X																	110391047		2203	4300	6503	SO:0001583	missense	5063	exon5			CTGTTCTAGATGT	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.404T>C	chrX.hg19:g.110391047T>C	ENSP00000361080:p.Leu135Pro	244.0	0.0		250.0	223.0	NM_001128168	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	hg19	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983683	0.53827	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.74	5.74	0.90152	PAK-box/P21-Rho-binding (1);	0.076673	0.53938	D	0.000055	D	0.94499	0.8229	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.995	D;D;D;D	0.79784	0.981;0.993;0.993;0.981	D	0.95449	0.8532	10	0.87932	D	0	.	15.039	0.71774	0.0:0.0:0.0:1.0	.	141;156;135;120	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	P	120;120;135;141;120;156;156;156;141;135	ENSP00000410853:L120P;ENSP00000401982:L120P;ENSP00000361080:L135P;ENSP00000429113:L141P;ENSP00000361077:L120P;ENSP00000428921:L156P;ENSP00000405642:L156P;ENSP00000353864:L156P;ENSP00000389172:L141P;ENSP00000262836:L135P	ENSP00000262836:L135P	L	+	2	0	PAK3	110277703	0.997000	0.39634	0.639000	0.29394	0.938000	0.57974	7.698000	0.84413	1.935000	0.56089	0.437000	0.28790	CTA	.	.		0.413	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
RBMXL3	139804	hgsc.bcm.edu	37	X	114424720	114424720	+	Missense_Mutation	SNP	T	T	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:114424720T>C	ENST00000424776.3	+	1	758	c.716T>C	c.(715-717)gTc>gCc	p.V239A	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	239							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GGCCCGCGGGTCCGGGAGCCA	0.682																																					p.V239A		Atlas-SNP	.											.	RBMXL3	83	.	0			c.T716C						.						4.0	6.0	5.0					X																	114424720		667	1537	2204	SO:0001583	missense	139804	exon1			CGCGGGTCCGGGA	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.716T>C	chrX.hg19:g.114424720T>C	ENSP00000417451:p.Val239Ala	42.0	0.0		33.0	28.0	NM_001145346	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	hg19	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	t	2.183	-0.387059	0.04932	.	.	ENSG00000175718	ENST00000424776	T	0.03831	3.79	0.562	0.562	0.17290	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.27765	0.188	B	0.17433	0.018	T	0.43734	-0.9373	9	0.87932	D	0	.	5.2285	0.15408	0.0:1.0E-4:0.0:0.9999	.	239	Q8N7X1	RMXL3_HUMAN	A	239	ENSP00000417451:V239A	ENSP00000417451:V239A	V	+	2	0	RBMXL3	114330976	0.947000	0.32204	0.001000	0.08648	0.001000	0.01503	0.923000	0.28757	0.432000	0.26286	0.310000	0.20435	GTC	.	.		0.682	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
DOCK11	139818	hgsc.bcm.edu	37	X	117722105	117722105	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:117722105A>G	ENST00000276202.7	+	17	1864	c.1801A>G	c.(1801-1803)Att>Gtt	p.I601V	DOCK11_ENST00000276204.6_Missense_Mutation_p.I601V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	601					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGATTGTATTACTTCTTC	0.308																																					p.I601V		Atlas-SNP	.											.	DOCK11	185	.	0			c.A1801G						.						94.0	91.0	92.0					X																	117722105		2201	4291	6492	SO:0001583	missense	139818	exon17			GATTGTATTACTT	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1801A>G	chrX.hg19:g.117722105A>G	ENSP00000276202:p.Ile601Val	54.0	0.0		47.0	45.0	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	hg19	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	1.728	-0.494854	0.04322	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.14144	2.53;2.53	5.92	4.79	0.61399	.	0.107463	0.64402	D	0.000005	T	0.02342	0.0072	N	0.00335	-1.625	0.30442	N	0.776079	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31392	-0.9945	10	0.10377	T	0.69	-3.4468	1.66	0.02789	0.4573:0.0:0.2675:0.2752	.	601;601	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	601	ENSP00000276204:I601V;ENSP00000276202:I601V	ENSP00000276202:I601V	I	+	1	0	DOCK11	117606133	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.396000	0.52565	2.000000	0.58554	0.481000	0.45027	ATT	.	.		0.308	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	hgsc.bcm.edu	37	X	117722147	117722147	+	Missense_Mutation	SNP	T	T	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:117722147T>G	ENST00000276202.7	+	17	1906	c.1843T>G	c.(1843-1845)Tgc>Ggc	p.C615G	DOCK11_ENST00000276204.6_Missense_Mutation_p.C615G	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	615					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAAAAGAATTGCCAAAATAT	0.313																																					p.C615G		Atlas-SNP	.											.	DOCK11	185	.	0			c.T1843G						.						96.0	93.0	94.0					X																	117722147		2201	4296	6497	SO:0001583	missense	139818	exon17			AAGAATTGCCAAA	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1843T>G	chrX.hg19:g.117722147T>G	ENSP00000276202:p.Cys615Gly	57.0	0.0		46.0	41.0	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	hg19	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950089	0.34377	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.16196	2.36;2.36	5.82	5.82	0.92795	.	0.086103	0.85682	D	0.000000	T	0.12092	0.0294	N	0.25144	0.715	0.51767	D	0.999938	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-6.5108	12.7932	0.57545	0.0:0.0:0.0:1.0	.	615;615	A6NIW2;Q5JSL3	.;DOC11_HUMAN	G	615	ENSP00000276204:C615G;ENSP00000276202:C615G	ENSP00000276202:C615G	C	+	1	0	DOCK11	117606175	0.549000	0.26481	0.995000	0.50966	0.961000	0.63080	0.858000	0.27845	1.958000	0.56883	0.481000	0.45027	TGC	.	.		0.313	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
IGSF1	3547	hgsc.bcm.edu	37	X	130419759	130419759	+	Missense_Mutation	SNP	G	G	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:130419759G>T	ENST00000361420.3	-	4	440	c.361C>A	c.(361-363)Cta>Ata	p.L121I	IGSF1_ENST00000370910.1_Missense_Mutation_p.L112I|IGSF1_ENST00000370901.4_Missense_Mutation_p.L121I|IGSF1_ENST00000370904.1_Missense_Mutation_p.L112I|IGSF1_ENST00000370903.3_Missense_Mutation_p.L121I|IGSF1_ENST00000370900.1_Missense_Mutation_p.L121I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	121	Ig-like C2-type 1.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCAACTCTAGAACTTTACTG	0.473																																					p.L121I		Atlas-SNP	.											.	IGSF1	231	.	0			c.C361A						.						75.0	72.0	73.0					X																	130419759		2203	4300	6503	SO:0001583	missense	3547	exon4			ACTCTAGAACTTT	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.361C>A	chrX.hg19:g.130419759G>T	ENSP00000355010:p.Leu121Ile	35.0	0.0		40.0	38.0	NM_001555	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	hg19	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814960	0.50527	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903;ENST00000370901;ENST00000370900	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	4.76	3.81	0.43845	Immunoglobulin-like fold (1);	0.211844	0.23789	N	0.044544	T	0.40522	0.1120	M	0.91038	3.17	0.31199	N	0.699974	P;D;D	0.63046	0.942;0.99;0.992	P;D;D	0.76071	0.638;0.979;0.987	T	0.52011	-0.8632	10	0.72032	D	0.01	.	6.6331	0.22867	0.1635:0.0:0.8365:0.0	.	121;112;121	Q8N6C5-3;Q8N6C5-2;Q8N6C5	.;.;IGSF1_HUMAN	I	112;121;112;121;121;121	ENSP00000359947:L112I;ENSP00000355010:L121I;ENSP00000359941:L112I;ENSP00000359940:L121I;ENSP00000359938:L121I;ENSP00000359937:L121I	ENSP00000355010:L121I	L	-	1	2	IGSF1	130247440	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.346000	0.33964	0.908000	0.36671	0.600000	0.82982	CTA	.	.		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
PLAC1	10761	hgsc.bcm.edu	37	X	133700330	133700330	+	Missense_Mutation	SNP	C	C	A			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:133700330C>A	ENST00000359237.4	-	3	668	c.383G>T	c.(382-384)tGc>tTc	p.C128F	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TCTCATGGAGCAGGGCTTGGT	0.542																																					p.C128F		Atlas-SNP	.											.	PLAC1	17	.	0			c.G383T						.						127.0	106.0	113.0					X																	133700330		2203	4300	6503	SO:0001583	missense	10761	exon3			ATGGAGCAGGGCT	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.383G>T	chrX.hg19:g.133700330C>A	ENSP00000352173:p.Cys128Phe	70.0	0.0		76.0	70.0	NM_021796		Missense_Mutation	SNP	ENST00000359237.4	hg19	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	C	2.809	-0.247387	0.05867	.	.	ENSG00000170965	ENST00000359237	D	0.81499	-1.5	4.64	-3.64	0.04515	.	0.989692	0.08194	N	0.983304	T	0.59649	0.2209	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44065	-0.9352	10	0.11485	T	0.65	-2.6072	0.4916	0.00565	0.2732:0.1665:0.1494:0.411	.	128	Q9HBJ0	PLAC1_HUMAN	F	128	ENSP00000352173:C128F	ENSP00000352173:C128F	C	-	2	0	PLAC1	133527996	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-1.161000	0.03144	-0.886000	0.03966	-0.224000	0.12420	TGC	.	.		0.542	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796	
SAGE1	55511	hgsc.bcm.edu	37	X	134993960	134993960	+	Missense_Mutation	SNP	A	A	C			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:134993960A>C	ENST00000370709.3	+	17	2369	c.2369A>C	c.(2368-2370)aAc>aCc	p.N790T	SAGE1_ENST00000324447.3_Missense_Mutation_p.N790T|SAGE1_ENST00000537770.1_Missense_Mutation_p.N414T|SAGE1_ENST00000535938.1_Missense_Mutation_p.N790T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	790						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCACCAAAAACTACAGTGTC	0.428																																					p.N790T		Atlas-SNP	.											.	SAGE1	160	.	0			c.A2369C						.						128.0	118.0	121.0					X																	134993960		2203	4300	6503	SO:0001583	missense	55511	exon18			CCAAAAACTACAG	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2369A>C	chrX.hg19:g.134993960A>C	ENSP00000359743:p.Asn790Thr	84.0	0.0		75.0	68.0	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	hg19	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	9.436	1.086860	0.20390	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.34072	1.38;1.38;1.41;1.38	2.45	-4.9	0.03094	.	0.395989	0.26935	N	0.021753	T	0.27731	0.0682	N	0.16743	0.435	0.09310	N	1	B;D	0.64830	0.095;0.994	B;P	0.60173	0.124;0.87	T	0.34304	-0.9834	10	0.32370	T	0.25	.	6.0703	0.19885	0.6642:0.2183:0.1175:0.0	.	414;790	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	790;790;414;790	ENSP00000323191:N790T;ENSP00000445959:N790T;ENSP00000438276:N414T;ENSP00000359743:N790T	ENSP00000323191:N790T	N	+	2	0	SAGE1	134821626	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-1.511000	0.02260	-1.840000	0.01184	0.150000	0.16122	AAC	.	.		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
MAGEC2	51438	hgsc.bcm.edu	37	X	141291576	141291576	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:141291576A>T	ENST00000247452.3	-	3	545	c.198T>A	c.(196-198)ccT>ccA	p.P66P		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	66					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCAGGACCACCAA	0.532										HNSCC(46;0.14)																											p.P66P		Atlas-SNP	.											.	MAGEC2	102	.	0			c.T198A						.						73.0	71.0	71.0					X																	141291576		2203	4300	6503	SO:0001819	synonymous_variant	51438	exon3			CTCCTCAGGACCA	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.198T>A	chrX.hg19:g.141291576A>T		44.0	0.0		37.0	34.0	NM_016249	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	hg19	CCDS14678.1																																																																																			.	.		0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
SLITRK2	84631	hgsc.bcm.edu	37	X	144904336	144904336	+	Silent	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:144904336A>T	ENST00000370490.1	+	1	4648	c.393A>T	c.(391-393)ctA>ctT	p.L131L	SLITRK2_ENST00000428560.2_Silent_p.L131L|SLITRK2_ENST00000434188.2_Silent_p.L131L|SLITRK2_ENST00000413937.2_Silent_p.L131L|SLITRK2_ENST00000447897.2_Silent_p.L131L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	131					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTTCCTAGGCCTGGAGA	0.502																																					p.L131L		Atlas-SNP	.											.	SLITRK2	221	.	0			c.A393T						.						77.0	61.0	67.0					X																	144904336		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			CTTCCTAGGCCTG	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.393A>T	chrX.hg19:g.144904336A>T		102.0	0.0		58.0	52.0	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	hg19	CCDS14680.1																																																																																			.	.		0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
AFF2	2334	hgsc.bcm.edu	37	X	147967466	147967466	+	Missense_Mutation	SNP	A	A	T			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:147967466A>T	ENST00000370460.2	+	8	1789	c.1310A>T	c.(1309-1311)gAg>gTg	p.E437V	AFF2_ENST00000286437.5_Missense_Mutation_p.E78V|AFF2_ENST00000342251.3_Missense_Mutation_p.E404V|AFF2_ENST00000370457.5_Missense_Mutation_p.E404V|AFF2_ENST00000370458.1_Missense_Mutation_p.E398V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	437					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGACCTTGAGCCTGTGAAG	0.473																																					p.E437V		Atlas-SNP	.											.	AFF2	679	.	0			c.A1310T						.						327.0	275.0	293.0					X																	147967466		2203	4300	6503	SO:0001583	missense	2334	exon8			ACCTTGAGCCTGT	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1310A>T	chrX.hg19:g.147967466A>T	ENSP00000359489:p.Glu437Val	55.0	0.0		48.0	43.0	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253834	0.80135	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.45	5.45	0.79879	.	0.060479	0.64402	D	0.000007	T	0.77246	0.4102	L	0.50333	1.59	0.48632	D	0.999686	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.974;0.955;0.955;0.955;0.955;0.974;0.998	T	0.77710	-0.2486	10	0.48119	T	0.1	.	14.5211	0.67851	1.0:0.0:0.0:0.0	.	78;402;404;398;427;437;398	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	V	437;404;404;398;78	ENSP00000359489:E437V;ENSP00000359486:E404V;ENSP00000345459:E404V;ENSP00000359487:E398V;ENSP00000286437:E78V	ENSP00000286437:E78V	E	+	2	0	AFF2	147775159	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	4.973000	0.63763	1.808000	0.52836	0.481000	0.45027	GAG	.	.		0.473	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MTMR1	8776	hgsc.bcm.edu	37	X	149867740	149867740	+	Silent	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:149867740A>G	ENST00000370390.3	+	2	376	c.219A>G	c.(217-219)tcA>tcG	p.S73S	MTMR1_ENST00000544228.1_Silent_p.S73S|MTMR1_ENST00000451863.2_Silent_p.S73S|MTMR1_ENST00000541925.1_5'UTR|MTMR1_ENST00000445323.2_Silent_p.S73S|MTMR1_ENST00000542156.1_Silent_p.S73S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	73					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCAGGTTCAGTGACATCAG	0.353																																					p.S73S		Atlas-SNP	.											.	MTMR1	82	.	0			c.A219G						.						143.0	134.0	137.0					X																	149867740		2203	4300	6503	SO:0001819	synonymous_variant	8776	exon2			AGGTTCAGTGACA	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.219A>G	chrX.hg19:g.149867740A>G		45.0	0.0		32.0	30.0	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	hg19	CCDS14695.1																																																																																			.	.		0.353	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
DKC1	1736	hgsc.bcm.edu	37	X	153996705	153996705	+	Missense_Mutation	SNP	A	A	G			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:153996705A>G	ENST00000369550.5	+	8	979	c.769A>G	c.(769-771)Aag>Gag	p.K257E	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	257					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATGAGTGAAAAGGTATGTGT	0.483									Congenital Dyskeratosis																												p.K257E		Atlas-SNP	.											.	DKC1	41	.	0			c.A769G						.						255.0	216.0	229.0					X																	153996705		2203	4300	6503	SO:0001583	missense	1736	exon8	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AGTGAAAAGGTAT	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.769A>G	chrX.hg19:g.153996705A>G	ENSP00000358563:p.Lys257Glu	40.0	0.0		30.0	27.0	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	hg19	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466126	0.63625	.	.	ENSG00000130826	ENST00000369550	D	0.87571	-2.27	5.88	5.88	0.94601	Pseudouridine synthase, catalytic domain (1);	0.044317	0.85682	D	0.000000	T	0.79667	0.4485	N	0.20881	0.62	0.54753	D	0.99998	B;B	0.11235	0.004;0.004	B;B	0.09377	0.002;0.004	T	0.74160	-0.3755	10	0.35671	T	0.21	-26.7131	13.9652	0.64205	1.0:0.0:0.0:0.0	.	257;257	A8MUT5;O60832	.;DKC1_HUMAN	E	257	ENSP00000358563:K257E	ENSP00000358563:K257E	K	+	1	0	DKC1	153649899	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.947000	0.75959	1.979000	0.57680	0.486000	0.48141	AAG	.	.		0.483	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
CFHR1	3078	hgsc.bcm.edu	37	1	196799671	196799671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:196799671delG	ENST00000320493.5	+	5	737	c.649delG	c.(649-651)gggfs	p.G217fs	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Frame_Shift_Del_p.G158fs	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	217	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TATTGACAATGGGGACATTAC	0.398																																					p.N216fs		Atlas-INDEL	.											.	CFHR1	47	.	0			c.648delT						.						85.0	100.0	95.0					1																	196799671		1878	4132	6010	SO:0001589	frameshift_variant	3078	exon5			.	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.649delG	chr1.hg19:g.196799671delG	ENSP00000314299:p.Gly217fs	261.0	0.0		183.0	14.0	NM_002113	A8K465|Q3B774|Q9UJ17	Frame_Shift_Del	DEL	ENST00000320493.5	hg19	CCDS1386.1																																																																																			.	.		0.398	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113	
RB1	5925	hgsc.bcm.edu	37	13	48953748	48953748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:48953748delC	ENST00000267163.4	+	14	1489	c.1351delC	c.(1351-1353)cgcfs	p.R451fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	451	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R451C(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTGGAGTTCGCTTGTATTA	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.V450fs		Atlas-Indel,Pindel	.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	RB1	1068	.	26	Whole gene deletion(15)|Unknown(8)|Substitution - Missense(3)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.1350delT						.						21.0	22.0	22.0					13																	48953748		2201	4300	6501	SO:0001589	frameshift_variant	5925	exon14	Familial Cancer Database		.	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1351delC	chr13.hg19:g.48953748delC	ENSP00000267163:p.Arg451fs	276.0	0.0		211.0	191.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	hg19	CCDS31973.1																																																																																			.	.		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RFPL4B	442247	hgsc.bcm.edu	37	6	112671556	112671556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:112671556delG	ENST00000441065.2	+	3	958	c.646delG	c.(646-648)gaafs	p.E217fs	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	217	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TGCTGACTTAGAAGAAATCCA	0.453																																					p.L215fs		Atlas-Indel,Pindel	.											.	RFPL4B	36	.	0			c.645delA						.						68.0	64.0	65.0					6																	112671556		2203	4300	6503	SO:0001589	frameshift_variant	442247	exon3			.	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.646delG	chr6.hg19:g.112671556delG	ENSP00000423391:p.Glu217fs	45.0	0.0		49.0	28.0	NM_001013734	A2RU91	Frame_Shift_Del	DEL	ENST00000441065.2	hg19	CCDS34515.1																																																																																			.	.		0.453	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734	
BTG1	694	hgsc.bcm.edu	37	12	92539312	92539324	+	5'UTR	DEL	GGGGGCGGCGTGC	GGGGGCGGCGTGC	-	rs377332794|rs576191276		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	GGGGGCGGCGTGC	GGGGGCGGCGTGC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:92539312_92539324delGGGGGCGGCGTGC	ENST00000256015.3	-	0	349_361				RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000551563.2_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|C12orf79_ENST00000546975.1_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative						cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				AGGGATGCATgggggcggcgtgcgggggcggcc	0.732			T	MYC	BCLL																																.		Atlas-Indel,Pindel	.		Dom	yes		12	12q22	694	"""B-cell translocation gene 1, anti-proliferative"""		L	.	BTG1	30	.	0			.						.																																			SO:0001623	5_prime_UTR_variant	694	wholegene			.		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.-13GCACGCCGCCCCC>-	chr12.hg19:g.92539312_92539324delGGGGGCGGCGTGC		43.0	0.0		44.0	19.0	NM_001731	P31607	Frame_Shift_Del	DEL	ENST00000256015.3	hg19	CCDS9043.1																																																																																			.	.		0.732	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1		
EYS	346007	hgsc.bcm.edu	37	6	66204911	66204911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr6:66204911delT	ENST00000370621.3	-	4	919	c.393delA	c.(391-393)aaafs	p.K131fs	EYS_ENST00000342421.5_Frame_Shift_Del_p.K131fs|EYS_ENST00000370618.3_Frame_Shift_Del_p.K131fs|EYS_ENST00000503581.1_Frame_Shift_Del_p.K131fs|EYS_ENST00000370616.2_Frame_Shift_Del_p.K131fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.K131fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	131					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTGCATTCCTTTTAGTCTGC	0.403																																					p.G132fs		Atlas-Indel,Pindel	.											.	EYS	527	.	0			c.394delG						.						70.0	64.0	66.0					6																	66204911		2203	4300	6503	SO:0001589	frameshift_variant	346007	exon4			.		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.393delA	chr6.hg19:g.66204911delT	ENSP00000359655:p.Lys131fs	102.0	0.0		99.0	44.0	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Del	DEL	ENST00000370621.3	hg19																																																																																				.	.		0.403	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
STON1	11037	hgsc.bcm.edu	37	2	48808054	48808054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:48808054delC	ENST00000406226.1	+	3	477	c.282delC	c.(280-282)atcfs	p.I94fs	STON1-GTF2A1L_ENST00000394751.3_Frame_Shift_Del_p.I94fs|STON1-GTF2A1L_ENST00000405008.1_Frame_Shift_Del_p.I94fs|STON1_ENST00000309835.3_Frame_Shift_Del_p.I94fs|STON1_ENST00000404752.1_Frame_Shift_Del_p.I94fs|STON1-GTF2A1L_ENST00000394754.1_Frame_Shift_Del_p.I94fs|STON1-GTF2A1L_ENST00000309827.2_Frame_Shift_Del_p.I94fs|STON1-GTF2A1L_ENST00000402114.2_Frame_Shift_Del_p.I94fs	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	94					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.I94I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCTGGCATCCCCAAAGCAG	0.473																																					p.I94fs		Atlas-Indel,Pindel	.											.	STON1-GTF2A1L	180	.	2	Substitution - coding silent(2)	lung(2)	c.281delT						.						122.0	124.0	123.0					2																	48808054		2203	4300	6503	SO:0001589	frameshift_variant	286749	exon2			.	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.282delC	chr2.hg19:g.48808054delC	ENSP00000384615:p.Ile94fs	133.0	0.0		107.0	50.0	NM_001198593	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Frame_Shift_Del	DEL	ENST00000406226.1	hg19	CCDS1841.1																																																																																			.	.		0.473	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
EML5	161436	hgsc.bcm.edu	37	14	89154769	89154769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:89154769delT	ENST00000380664.5	-	18	2587	c.2588delA	c.(2587-2589)aatfs	p.N863fs	EML5_ENST00000554922.1_Frame_Shift_Del_p.N863fs|EML5_ENST00000352093.5_Intron			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	863						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATTGTGTCATTTTTCCCCAG	0.393																																					p.N863fs		Atlas-Indel,Pindel	.											.	EML5	141	.	0			c.2589delT						.						265.0	253.0	257.0					14																	89154769		1932	4144	6076	SO:0001589	frameshift_variant	161436	exon18			.	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2588delA	chr14.hg19:g.89154769delT	ENSP00000370039:p.Asn863fs	60.0	0.0		56.0	23.0	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Del	DEL	ENST00000380664.5	hg19	CCDS45148.1																																																																																			.	.		0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
COL6A3	1293	hgsc.bcm.edu	37	2	238303641	238303641	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:238303641delG	ENST00000295550.4	-	3	750	c.298delC	c.(298-300)caafs	p.Q100fs	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.Q100fs|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.Q100fs|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	100	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGACTTCTTGTTTAGTACGA	0.403																																					p.Q100fs		Atlas-Indel,Pindel	.											.	COL6A3	608	.	0			c.299delA						.						93.0	96.0	95.0					2																	238303641		2203	4300	6503	SO:0001589	frameshift_variant	1293	exon3			.	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.298delC	chr2.hg19:g.238303641delG	ENSP00000295550:p.Gln100fs	156.0	0.0		129.0	63.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Frame_Shift_Del	DEL	ENST00000295550.4	hg19	CCDS33412.1																																																																																			.	.		0.403	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CFH	3075	hgsc.bcm.edu	37	1	196714988	196714988	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:196714988delG	ENST00000367429.4	+	21	3592	c.3352delG	c.(3352-3354)gggfs	p.G1118fs		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1118	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATTGACAATGGGGACATTAC	0.398																																					p.N1117fs		Atlas-Indel,Pindel	.											.	CFH	251	.	0			c.3351delT						.						138.0	133.0	135.0					1																	196714988		2203	4300	6503	SO:0001589	frameshift_variant	3075	exon21			.	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3352delG	chr1.hg19:g.196714988delG	ENSP00000356399:p.Gly1118fs	239.0	0.0		114.0	87.0	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Frame_Shift_Del	DEL	ENST00000367429.4	hg19	CCDS1385.1																																																																																			.	.		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CCDC176	80127	hgsc.bcm.edu	37	14	74514746	74514757	+	In_Frame_Del	DEL	AAGAGAGTCATA	AAGAGAGTCATA	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	AAGAGAGTCATA	AAGAGAGTCATA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr14:74514746_74514757delAAGAGAGTCATA	ENST00000394009.3	+	7	884_895	c.761_772delAAGAGAGTCATA	c.(760-774)caagagagtcatact>cct	p.254_258QESHT>P	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_5'UTR|CCDC176_ENST00000489323.1_3'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	254					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											CAGAAGTTGCAAGAGAGTCATACTTTACTTTT	0.354																																					p.254_257del		Atlas-Indel,Pindel	.											.	.	.	.	0			c.760_771del						.																																			SO:0001651	inframe_deletion	80127	exon7			.	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.761_772delAAGAGAGTCATA	chr14.hg19:g.74514746_74514757delAAGAGAGTCATA	ENSP00000377577:p.Gln254_Thr258delinsPro	227.0	0.0		149.0	24.0	NM_025057	Q0P604|Q9H5P8	In_Frame_Del	DEL	ENST00000394009.3	hg19	CCDS32119.2																																																																																			.	.		0.354	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057	
CDK5R2	8941	hgsc.bcm.edu	37	2	219825484	219825484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr2:219825484delC	ENST00000302625.4	+	1	1108	c.942delC	c.(940-942)gacfs	p.D314fs	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	314					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAACGCCGACCCCCACTTCT	0.711																																					p.D314fs		Atlas-Indel,Pindel	.											.	CDK5R2	17	.	0			c.941delA						.						36.0	38.0	38.0					2																	219825484		2203	4299	6502	SO:0001589	frameshift_variant	8941	exon1			.	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.942delC	chr2.hg19:g.219825484delC	ENSP00000304250:p.Asp314fs	71.0	0.0		76.0	32.0	NM_003936	Q4ZFW6	Frame_Shift_Del	DEL	ENST00000302625.4	hg19	CCDS2427.1																																																																																			.	.		0.711	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936	
TRIM13	10206	hgsc.bcm.edu	37	13	50589218	50589250	+	3'UTR	DEL	AAAAAAAAAAAAAATATATATATATATATATAT	AAAAAAAAAAAAAATATATATATATATATATAT	-	rs2472598|rs59009716|rs12875615|rs9535412|rs60457674|rs71082132		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	AAAAAAAAAAAAAATATATATATATATATATAT	AAAAAAAAAAAAAATATATATATATATATATAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr13:50589218_50589250delAAAAAAAAAAAAAATATATATATATATATATAT	ENST00000378182.3	+	0	3880_3912				TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_5'Flank|KCNRG_ENST00000312942.1_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		taataaaaaaaaaaaaaaaaaaaatatatatatatatatatatatatatatat	0.258																																					.		Atlas-INDEL	.											.	TRIM13	30	.	0			.						.																																			SO:0001624	3_prime_UTR_variant	10206	.			.	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.*1950AAAAAAAAAAAAAATATATATATATATATATAT>-	chr13.hg19:g.50589218_50589250delAAAAAAAAAAAAAATATATATATATATATATAT		30.0	0.0		23.0	15.0	.	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	DEL	ENST00000378182.3	hg19	CCDS9423.1																																																																																			.	.		0.258	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
PDZD4	57595	hgsc.bcm.edu	37	X	153073936	153073936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:153073936delC	ENST00000164640.4	-	2	366	c.175delG	c.(175-177)gacfs	p.D59fs	PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	59						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAGCTGTCCCCCCGGAGG	0.657																																					p.D59fs		Atlas-Indel,Pindel	.											.	PDZD4	67	.	0			c.176delA						.						44.0	34.0	38.0					X																	153073936		2202	4296	6498	SO:0001589	frameshift_variant	57595	exon2			.	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.175delG	chrX.hg19:g.153073936delC	ENSP00000164640:p.Asp59fs	99.0	0.0		46.0	40.0	NM_032512	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	hg19	CCDS14732.1																																																																																			.	.		0.657	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512	
PLPPR4	9890	hgsc.bcm.edu	37	1	99771914	99771914	+	Frame_Shift_Del	DEL	C	C	-	rs201251961		TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr1:99771914delC	ENST00000370185.3	+	7	2137	c.1640delC	c.(1639-1641)tccfs	p.S547fs	LPPR4_ENST00000457765.1_Frame_Shift_Del_p.S489fs|LPPR4_ENST00000370184.1_Frame_Shift_Del_p.S389fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		547					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATAAGCACCTCCCCCAAAAGC	0.537																																					p.S547fs		Atlas-Indel,Pindel	.											.	LPPR4	143	.	0			c.1639delT						.						84.0	90.0	88.0					1																	99771914		2203	4300	6503	SO:0001589	frameshift_variant	0	exon7			.																												ENST00000370185.3:c.1640delC	chr1.hg19:g.99771914delC	ENSP00000359204:p.Ser547fs	101.0	0.0		69.0	36.0	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Frame_Shift_Del	DEL	ENST00000370185.3	hg19	CCDS757.1																																																																																			.	.		0.537	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
PTPRB	5787	hgsc.bcm.edu	37	12	70983979	70983979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chr12:70983979delA	ENST00000261266.5	-	6	1190	c.1161delT	c.(1159-1161)aatfs	p.N388fs	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000551525.1_Frame_Shift_Del_p.N605fs|PTPRB_ENST00000550358.1_Frame_Shift_Del_p.N606fs|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_Frame_Shift_Del_p.N388fs|PTPRB_ENST00000334414.6_Frame_Shift_Del_p.N606fs	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	388	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCTGCCATTATTGTTTGCCT	0.448											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N606fs		Atlas-Indel,Pindel	.											.	PTPRB	676	.	0			c.1816delA						.						118.0	116.0	117.0					12																	70983979		1932	4151	6083	SO:0001589	frameshift_variant	5787	exon8			.	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1161delT	chr12.hg19:g.70983979delA	ENSP00000261266:p.Asn388fs	152.0	0.0	1126	111.0	38.0	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Frame_Shift_Del	DEL	ENST00000261266.5	hg19	CCDS44944.1																																																																																			.	.		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
HDAC6	10013	hgsc.bcm.edu	37	X	48681555	48681555	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UB-A7MB-01A-11D-A33Q-10	TCGA-UB-A7MB-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	c7af114d-6f4d-4bf8-978c-4eebf696b12e	2cff442a-ea76-4fbd-9c30-57cc414c49bd	g.chrX:48681555delG	ENST00000334136.5	+	25	2924	c.2746delG	c.(2746-2748)gggfs	p.G917fs	HDAC6_ENST00000444343.2_Frame_Shift_Del_p.G931fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.G917fs			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	917					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCAGCCACAGGGGGAGCCAC	0.637																																					p.T915fs	Pancreas(112;205 1675 2305 8976 15959)	Pindel	.											.	HDAC6	111	.	0			c.2745delA						.						19.0	18.0	18.0					X																	48681555		2199	4294	6493	SO:0001589	frameshift_variant	10013	exon25			.	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2746delG	chrX.hg19:g.48681555delG	ENSP00000334061:p.Gly917fs	70.0	0.0		67.0	31.0	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Frame_Shift_Del	DEL	ENST00000334136.5	hg19	CCDS14306.1																																																																																			.	.		0.637	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
