#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_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_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_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_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
SAMD11	148398	hgsc.bcm.edu	37	1	877831	877831	+	Missense_Mutation	SNP	T	T	C	rs6672356		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:877831T>C	ENST00000342066.3	+	10	1110	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	343				W -> R (in Ref. 1; AFP36417/AFP36421/ AFP36422, 2; BAB70781 and 4; AAH24295/ AAH33213). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GATGTTCGCCTGGCAGCAGGA	0.776													N|||	5008	1.0	1.0	1.0	5008	,	,		6579	1.0		1.0	False		,,,				2504	1.0				p.W343R		.											.	SAMD11-90	0			c.T1027C						.						2.0	2.0	2.0					1																	877831		1282	2953	4235	SO:0001583	missense	148398	exon10			TTCGCCTGGCAGC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1027T>C	1.37:g.877831T>C	ENSP00000342313:p.Trp343Arg	0	0		6	6	NM_152486	0	0	0	0	0	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	2176	0.9963369963369964	492	1.0	361	0.9972375690607734	569	0.9947552447552448	754	0.9947229551451188	c	0.132	-1.111921	0.01813	.	.	ENSG00000187634	ENST00000342066	.	.	.	3.52	2.51	0.30379	.	0.186377	0.36101	N	0.002790	T	0.00012	0.0000	N	0.00114	-2.085	0.49051	P	2.510000000000012E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35076	-0.9803	8	0.02654	T	1	-1.0006	7.519	0.27616	0.1614:0.742:0.0:0.0966	rs6672356;rs17856721;rs17856973	327;343	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	R	343	.	ENSP00000342313:W343R	W	+	1	0	SAMD11	867694	0.941000	0.31946	0.994000	0.49952	0.466000	0.32739	1.209000	0.32357	0.624000	0.30286	-0.701000	0.03672	TGG	T|0.004;C|0.996		0.776	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486	
VPS13D	55187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12294377	12294377	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:12294377C>G	ENST00000358136.3	+	2	184	c.54C>G	c.(52-54)gtC>gtG	p.V18V	VPS13D_ENST00000356315.4_Silent_p.V18V	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)		GAAAATATGTCAATAACCTGA	0.393																																					p.V18V		.											.	VPS13D-95	0			c.C54G						.						138.0	126.0	130.0					1																	12294377		2203	4300	6503	SO:0001819	synonymous_variant	55187	exon2			ATATGTCAATAAC	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.54C>G	1.37:g.12294377C>G		122	0		172	56	NM_015378	0	0	1	1	0		Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																			.		0.393	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRAMEF4	400735	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	12939472	12939472	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:12939472C>T	ENST00000235349.5	-	4	1400	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	444					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCCTCACTCTGTTCATC	0.512																																					p.V444M		.											.	PRAMEF4-45	0			c.G1330A						.						15.0	15.0	15.0					1																	12939472		1417	2461	3878	SO:0001583	missense	400735	exon4			CCCTCACTCTGTT		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1330G>A	1.37:g.12939472C>T	ENSP00000235349:p.Val444Met	776	0		1237	116	NM_001009611	0	0	0	0	0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915639	0.17907	.	.	ENSG00000243073	ENST00000235349	T	0.47869	0.83	1.48	-2.96	0.05547	.	0.473069	0.18384	N	0.142871	T	0.44095	0.1277	L	0.35723	1.085	0.09310	N	1	D	0.56521	0.976	P	0.59056	0.851	T	0.40270	-0.9572	10	0.59425	D	0.04	.	4.6659	0.12666	0.0:0.4469:0.337:0.2162	.	444	O60810	PRAM4_HUMAN	M	444	ENSP00000235349:V444M	ENSP00000235349:V444M	V	-	1	0	PRAMEF4	12862059	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.546000	0.02188	-0.926000	0.03770	-0.723000	0.03601	GTG	.		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
AGMAT	79814	hgsc.bcm.edu	37	1	15911349	15911349	+	Silent	SNP	G	G	A	rs3737705	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2.0	3.0	3.0		114	-4.1	0.0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		0	0		14	7	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24385424	24385424	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:24385424A>T	ENST00000374434.3	-	36	4202	c.4040T>A	c.(4039-4041)aTg>aAg	p.M1347K	MYOM3_ENST00000338909.5_Missense_Mutation_p.M240K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.M1350K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1347	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCTTCCATGATAGTGGC	0.552																																					p.M1347K		.											.	MYOM3-93	0			c.T4040A						.						59.0	66.0	64.0					1																	24385424		2015	4174	6189	SO:0001583	missense	127294	exon36			TCTTCCATGATAG	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4040T>A	1.37:g.24385424A>T	ENSP00000363557:p.Met1347Lys	99	0		123	34	NM_152372	0	0	0	0	0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.381453	0.61845	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.64438	-0.1;-0.1;-0.1	4.64	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.35723	1.085	0.80722	D	1	P;B	0.38223	0.623;0.055	B;B	0.39379	0.298;0.061	T	0.48592	-0.9022	10	0.05833	T	0.94	.	14.3497	0.66691	1.0:0.0:0.0:0.0	.	1347;240	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	K	240;1347;1350;241	ENSP00000342689:M240K;ENSP00000363557:M1347K;ENSP00000332670:M1350K	ENSP00000332670:M1350K	M	-	2	0	MYOM3	24258011	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.988000	0.63863	1.842000	0.53543	0.459000	0.35465	ATG	.		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	
NIPAL3	57185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24786973	24786973	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:24786973G>C	ENST00000374399.4	+	10	1233	c.865G>C	c.(865-867)Gca>Cca	p.A289P	NIPAL3_ENST00000003912.3_Missense_Mutation_p.A207P|NIPAL3_ENST00000339255.2_Missense_Mutation_p.A289P	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	289						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGCTGCAGGTGCAATATTTTA	0.478																																					p.A289P		.											.	NIPAL3-90	0			c.G865C						.						157.0	134.0	142.0					1																	24786973		2203	4300	6503	SO:0001583	missense	57185	exon10			GCAGGTGCAATAT	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.865G>C	1.37:g.24786973G>C	ENSP00000363520:p.Ala289Pro	86	0		129	51	NM_020448	0	0	0	0	0	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415993	0.83449	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255	D;D;D	0.91351	-2.83;-2.83;-2.83	5.44	5.44	0.79542	.	0.046714	0.85682	D	0.000000	D	0.95971	0.8688	M	0.87456	2.885	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.955;0.968	D	0.96301	0.9221	10	0.72032	D	0.01	-15.4551	19.2442	0.93895	0.0:0.0:1.0:0.0	.	289;289	Q6P499;A6NN97	NPAL3_HUMAN;.	P	289;207;289	ENSP00000363520:A289P;ENSP00000003912:A207P;ENSP00000343549:A289P	ENSP00000003912:A207P	A	+	1	0	NIPAL3	24659560	1.000000	0.71417	0.444000	0.26895	0.124000	0.20399	5.986000	0.70563	2.561000	0.86390	0.655000	0.94253	GCA	.		0.478	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	
BAI2	576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	32209956	32209956	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:32209956C>T	ENST00000373658.3	-	6	1266	c.925G>A	c.(925-927)Gac>Aac	p.D309N	BAI2_ENST00000398542.1_Missense_Mutation_p.D297N|BAI2_ENST00000257070.4_Missense_Mutation_p.D309N|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000373655.2_Missense_Mutation_p.D309N|BAI2_ENST00000398538.1_Missense_Mutation_p.D297N|BAI2_ENST00000398556.3_Intron|BAI2_ENST00000398547.1_Intron|BAI2_ENST00000527361.1_Missense_Mutation_p.D309N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	309	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCGCCGGGTCGCCTACGAGA	0.672																																					p.D309N		.											.	BAI2-526	0			c.G925A						.						16.0	16.0	16.0					1																	32209956		1966	3781	5747	SO:0001583	missense	576	exon6			CCGGGTCGCCTAC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.925G>A	1.37:g.32209956C>T	ENSP00000362762:p.Asp309Asn	32	0		86	30	NM_001703	0	0	0	0	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376939	0.82682	.	.	ENSG00000121753	ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T	0.62364	0.82;0.83;1.8;0.03;0.03;0.03;1.38	4.43	4.43	0.53597	.	0.000000	0.34580	N	0.003847	T	0.71710	0.3372	L	0.41415	1.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.74674	0.984;0.957;0.968;0.973	T	0.75494	-0.3298	10	0.72032	D	0.01	.	16.2115	0.82165	0.0:1.0:0.0:0.0	.	309;297;309;309	O60241-4;A2A3C1;O60241-2;O60241	.;.;.;BAI2_HUMAN	N	309;309;297;309;309;297;302	ENSP00000362762:D309N;ENSP00000362759:D309N;ENSP00000381550:D297N;ENSP00000257070:D309N;ENSP00000435397:D309N;ENSP00000381548:D297N;ENSP00000410921:D302N	ENSP00000257070:D309N	D	-	1	0	BAI2	31982543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.369000	0.79578	2.180000	0.69256	0.462000	0.41574	GAC	.		0.672	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
EPHA10	284656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	38230726	38230726	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:38230726C>G	ENST00000373048.4	-	1	12	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	EPHA10_ENST00000319637.6_Missense_Mutation_p.A5P|EPHA10_ENST00000427468.2_Missense_Mutation_p.A5P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	5					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTGGACCGGCGCAGGTCTCC	0.692																																					p.A5P		.											.	EPHA10-1246	0			c.G13C						.						10.0	12.0	11.0					1																	38230726		2197	4288	6485	SO:0001583	missense	284656	exon1			GACCGGCGCAGGT	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.13G>C	1.37:g.38230726C>G	ENSP00000362139:p.Ala5Pro	28	0		71	28	NM_001099439	0	0	0	0	0	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013342	0.54468	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.77489	-1.1;-1.09;4.3	5.19	3.29	0.37713	.	0.213109	0.23734	N	0.045086	T	0.60663	0.2286	N	0.19112	0.55	0.21325	N	0.999723	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.51624	-0.8682	10	0.46703	T	0.11	.	7.1758	0.25744	0.0:0.7379:0.1708:0.0913	.	5;5	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	P	5	ENSP00000397746:A5P;ENSP00000362139:A5P;ENSP00000316395:A5P	ENSP00000316395:A5P	A	-	1	0	EPHA10	38003313	0.994000	0.37717	0.218000	0.23776	0.803000	0.45373	3.719000	0.54926	0.741000	0.32674	0.637000	0.83480	GCC	.		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
EXO5	64789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	40981323	40981323	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:40981323C>G	ENST00000372703.1	+	2	2181	c.1107C>G	c.(1105-1107)gtC>gtG	p.V369V	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.V369V|EXO5_ENST00000358527.2_Silent_p.V369V|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	369					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										CGCCCCAAGTCAAAAAAGCCA	0.493																																					p.V369V		.											.	.	0			c.C1107G						.						41.0	42.0	42.0					1																	40981323		2203	4294	6497	SO:0001819	synonymous_variant	64789	exon3			CCAAGTCAAAAAA	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.1107C>G	1.37:g.40981323C>G		71	0		119	31	NM_022774	0	0	10	16	6	D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Silent	SNP	ENST00000372703.1	37	CCDS453.1																																																																																			.		0.493	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774	
TTC4	7268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	55188440	55188440	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:55188440C>G	ENST00000371281.3	+	5	649	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	188										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GAAGAAGCTTCTGGAAATGAG	0.458																																					p.L188V		.											.	TTC4-90	0			c.C562G						.						118.0	111.0	113.0					1																	55188440		2203	4300	6503	SO:0001583	missense	7268	exon5			AAGCTTCTGGAAA		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.562C>G	1.37:g.55188440C>G	ENSP00000360329:p.Leu188Val	107	0		244	51	NM_004623	0	0	9	16	7	Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	CCDS596.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718889	0.48622	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.15718	2.4	5.42	2.44	0.29823	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.14917	0.0360	M	0.78916	2.43	0.36879	D	0.889302	B;P	0.45176	0.245;0.852	B;B	0.37198	0.212;0.243	T	0.20706	-1.0267	9	0.13853	T	0.58	-2.5128	4.6512	0.12596	0.1579:0.6039:0.0:0.2382	.	188;199	O95801;Q5TA95	TTC4_HUMAN;.	V	188;199	ENSP00000360329:L188V	ENSP00000360329:L188V	L	+	1	2	TTC4	54961028	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	0.159000	0.16442	0.732000	0.32470	0.460000	0.39030	CTG	.		0.458	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623	
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	67098763	67098763	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:67098763G>A	ENST00000371037.4	+	3	162	c.85G>A	c.(85-87)Gat>Aat	p.D29N	SGIP1_ENST00000371036.3_Missense_Mutation_p.D28N|SGIP1_ENST00000371035.3_Missense_Mutation_p.D29N|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.D29N|SGIP1_ENST00000371039.1_Missense_Mutation_p.D29N	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	29					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						AGGTTCACCAGATAGAGATGG	0.308																																					p.D29N		.											.	SGIP1-93	0			c.G85A						.						167.0	185.0	179.0					1																	67098763		2203	4300	6503	SO:0001583	missense	84251	exon3			TCACCAGATAGAG	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.85G>A	1.37:g.67098763G>A	ENSP00000360076:p.Asp29Asn	45	0		87	39	NM_032291	0	0	0	0	0	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687255	0.88639	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.38077	1.16;2.29;1.56;1.91;2.16;1.64	5.83	5.83	0.93111	.	0.102838	0.64402	D	0.000004	T	0.50000	0.1590	L	0.59436	1.845	0.45662	D	0.998588	D	0.63880	0.993	D	0.74674	0.984	T	0.29941	-0.9995	10	0.39692	T	0.17	-18.658	18.8905	0.92399	0.0:0.0:1.0:0.0	.	29	Q9BQI5	SGIP1_HUMAN	N	29;29;29;29;28;28;28;29	ENSP00000237247:D29N;ENSP00000360078:D29N;ENSP00000410439:D29N;ENSP00000360074:D29N;ENSP00000360075:D28N;ENSP00000360076:D29N	ENSP00000237247:D29N	D	+	1	0	SGIP1	66871351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.140000	0.89616	2.763000	0.94921	0.555000	0.69702	GAT	.		0.308	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
ZRANB2	9406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	71538205	71538205	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:71538205C>T	ENST00000370920.3	-	5	629	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E110K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	110					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCAACATTTTCTCTTTCATTA	0.303																																					p.E110K		.											.	ZRANB2-92	0			c.G328A						.						64.0	68.0	67.0					1																	71538205		2201	4290	6491	SO:0001583	missense	9406	exon5			CATTTTCTCTTTC	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.328G>A	1.37:g.71538205C>T	ENSP00000359958:p.Glu110Lys	165	0		161	32	NM_005455	0	0	11	14	3	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714597	0.89112	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.66280	-0.2;-0.2	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	L	0.56769	1.78	0.80722	D	1	P;P	0.52170	0.88;0.951	P;P	0.62184	0.899;0.648	T	0.67554	-0.5641	10	0.40728	T	0.16	.	19.0069	0.92854	0.0:1.0:0.0:0.0	.	110;110	O95218;O95218-2	ZRAB2_HUMAN;.	K	110	ENSP00000359958:E110K;ENSP00000254821:E110K	ENSP00000254821:E110K	E	-	1	0	ZRANB2	71310793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.503000	0.84419	0.460000	0.39030	GAA	.		0.303	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	
FPGT-TNNI3K	100526835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	74929142	74929142	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:74929142A>T	ENST00000370899.3	+	23	2369	c.2332A>T	c.(2332-2334)Atg>Ttg	p.M778L	TNNI3K_ENST00000326637.3_Missense_Mutation_p.M677L|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.M791L|TNNI3K_ENST00000370891.2_Missense_Mutation_p.M778L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCAGCAGACATGGCTTACCA	0.463																																					p.M778L		.											.	.	0			c.A2332T						.						141.0	136.0	137.0					1																	74929142		2203	4300	6503	SO:0001583	missense	100526835	exon23			GCAGACATGGCTT			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2332A>T	1.37:g.74929142A>T	ENSP00000359936:p.Met778Leu	107	0		191	98	NM_001199327	0	0	0	0	0		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.107894	0.77096	.	.	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.91	4.79	0.61399	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62270	0.2414	N	0.13140	0.3	0.51767	D	0.999937	P;P;P	0.47677	0.899;0.877;0.592	P;P;B	0.48654	0.585;0.45;0.371	T	0.70392	-0.4884	10	0.62326	D	0.03	.	11.4506	0.50149	0.9294:0.0:0.0705:0.0	.	677;778;778	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	L	778;778;778;677	ENSP00000359936:M778L;ENSP00000450895:M778L;ENSP00000359928:M778L;ENSP00000322251:M677L	ENSP00000322251:M677L	M	+	1	0	RP11-653A5.2;AC093158.1	74701730	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.659000	0.68010	1.074000	0.40909	0.533000	0.62120	ATG	.		0.463	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
ERICH3	127254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	75038013	75038013	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:75038013C>G	ENST00000326665.5	-	14	3599	c.3381G>C	c.(3379-3381)gaG>gaC	p.E1127D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1127	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						GTGCTTCGTTCTCAGCATCAG	0.458																																					p.E1127D		.											.	C1orf173-94	0			c.G3381C						.						77.0	83.0	81.0					1																	75038013		2203	4300	6503	SO:0001583	missense	127254	exon14			TTCGTTCTCAGCA																												ENST00000326665.5:c.3381G>C	1.37:g.75038013C>G	ENSP00000322609:p.Glu1127Asp	24	0		18	6	NM_001002912	0	0	0	0	0	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770477	0.49680	.	.	ENSG00000178965	ENST00000326665	T	0.15718	2.4	4.44	2.51	0.30379	.	.	.	.	.	T	0.11623	0.0283	L	0.40543	1.245	0.28937	N	0.891204	D	0.56035	0.974	P	0.57009	0.811	T	0.11203	-1.0597	9	0.31617	T	0.26	-2.9556	10.1592	0.42842	0.0:0.8338:0.0:0.1662	.	1127	Q5RHP9	CA173_HUMAN	D	1127	ENSP00000322609:E1127D	ENSP00000322609:E1127D	E	-	3	2	C1orf173	74810601	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.286000	0.08399	0.415000	0.25817	0.561000	0.74099	GAG	.		0.458	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
SLC44A5	204962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	75805310	75805310	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:75805310G>T	ENST00000370855.5	-	4	171	c.58C>A	c.(58-60)Cca>Aca	p.P20T	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P20T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	20					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TATGTCCTTGGATCACCTGCA	0.328																																					p.P20T		.											.	SLC44A5-95	0			c.C58A						.						183.0	201.0	195.0					1																	75805310		2203	4300	6503	SO:0001583	missense	204962	exon4			TCCTTGGATCACC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.58C>A	1.37:g.75805310G>T	ENSP00000359892:p.Pro20Thr	30	0		57	37	NM_001130058	0	0	0	0	0	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445478	0.25987	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.55760	0.5;0.5	5.54	-2.44	0.06502	.	0.268388	0.36972	N	0.002317	T	0.46288	0.1385	M	0.83118	2.625	0.19575	N	0.999966	D;D;D;D	0.65815	0.991;0.969;0.982;0.995	P;P;P;P	0.62649	0.885;0.805;0.806;0.905	T	0.44574	-0.9319	10	0.59425	D	0.04	0.1039	1.3355	0.02144	0.3:0.2645:0.3123:0.1232	.	14;59;20;20	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2	.;.;CTL5_HUMAN;.	T	20;59;20;13	ENSP00000359896:P20T;ENSP00000359892:P20T	ENSP00000359892:P20T	P	-	1	0	SLC44A5	75577898	0.067000	0.21026	0.000000	0.03702	0.461000	0.32589	0.089000	0.15002	-0.688000	0.05155	-1.142000	0.01873	CCA	.		0.328	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
SAMD13	148418	hgsc.bcm.edu	37	1	84764249	84764249	+	5'Flank	SNP	A	A	G	rs1156085	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:84764249A>G	ENST00000370671.3	+	0	0				SAMD13_ENST00000370673.3_Splice_Site_p.G3G			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13											lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CCATGCGGGGAGGTAAGTGAT	0.716													A|||	77	0.0153754	0.0371	0.0115	5008	,	,		11629	0.0		0.0159	False		,,,				2504	0.0041				p.G3G		.											.	SAMD13-226	0			c.A9G						.	A		87,4279		2,83,2098	15.0	17.0	16.0		9	1.4	0.1	1	dbSNP_87	16	95,8449		0,95,4177	yes	coding-synonymous-near-splice	SAMD13	NM_001010971.2		2,178,6275	GG,GA,AA		1.1119,1.9927,1.4098		3/117	84764249	182,12728	2183	4272	6455	SO:0001631	upstream_gene_variant	148418	exon1			GCGGGGAGGTAAG		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859		1.37:g.84764249A>G	Exception_encountered	7	0		49	14	NM_001010971	0	0	0	0	0	B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Silent	SNP	ENST00000370671.3	37																																																																																				A|0.979;G|0.021		0.716	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971	
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538				p.31_34del		.											.	CTBS-90	0			c.92_100del						.			865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486	exon1			CGAGCCGCAGCGC	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del	15	0		75	17	NM_004388	0	0	0	0	0	Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	CCDS698.1																																																																																			.		0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388	
KIAA1107	23285	bcgsc.ca	37	1	92632562	92632562	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:92632562C>T	ENST00000409154.4	+	1	21	c.21C>T	c.(19-21)atC>atT	p.I7I	KIAA1107_ENST00000370378.4_5'Flank			Q9UPP5	K1107_HUMAN	KIAA1107	7										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						ACAGGCTAATCATCAGTTTAC	0.358																																					.		.											.	.	0			.						.																																			SO:0001819	synonymous_variant	23285	.			GCTAATCATCAGT	AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000409154.4:c.21C>T	1.37:g.92632562C>T		231	3		410	102	.	0	0	0	0	0	O14767|Q8N3X7	Silent	SNP	ENST00000409154.4	37																																																																																				.		0.358	KIAA1107-201	KNOWN	basic	protein_coding	protein_coding		XM_034086	
WDR47	22911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	109544988	109544988	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:109544988T>C	ENST00000369962.3	-	7	1513	c.1291A>G	c.(1291-1293)Agg>Ggg	p.R431G	WDR47_ENST00000400794.3_Missense_Mutation_p.R439G|WDR47_ENST00000361054.3_Missense_Mutation_p.R403G|WDR47_ENST00000369965.4_Missense_Mutation_p.R432G|WDR47_ENST00000357672.3_Missense_Mutation_p.R403G			O94967	WDR47_HUMAN	WD repeat domain 47	431	Gln-rich.				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)		AATCTTTGCCTATAATATTCT	0.353																																					p.R439G		.											.	WDR47-91	0			c.A1315G						.						111.0	95.0	100.0					1																	109544988		2203	4300	6503	SO:0001583	missense	22911	exon7			TTTGCCTATAATA	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.1291A>G	1.37:g.109544988T>C	ENSP00000358979:p.Arg431Gly	36	0		28	13	NM_001142550	0	0	0	0	0	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694813	0.68386	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58940	0.31;0.34;0.3;0.31;0.3	5.08	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.32530	0.975	0.58432	D	0.999993	D;D;D;D	0.76494	0.989;0.999;0.999;0.989	D;D;D;D	0.78314	0.985;0.991;0.991;0.985	T	0.58544	-0.7618	10	0.59425	D	0.04	-10.1447	10.881	0.46937	0.0:0.0:0.3016:0.6983	.	403;439;431;432	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	G	439;431;403;432;403	ENSP00000383599:R439G;ENSP00000358979:R431G;ENSP00000354339:R403G;ENSP00000358982:R432G;ENSP00000350301:R403G	ENSP00000350301:R403G	R	-	1	2	WDR47	109346511	0.982000	0.34865	0.998000	0.56505	0.995000	0.86356	1.593000	0.36686	0.743000	0.32719	0.402000	0.26972	AGG	.		0.353	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
CEPT1	10390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	111725483	111725483	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:111725483C>A	ENST00000545121.1	+	7	1117	c.909C>A	c.(907-909)atC>atA	p.I303I	RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Silent_p.I303I|CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.4_ENST00000607951.1_RNA	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	303					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|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)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTGCAATGATCTACAAGAAAT	0.358																																					p.I303I		.											.	CEPT1-90	0			c.C909A						.						209.0	195.0	200.0					1																	111725483		2203	4300	6503	SO:0001819	synonymous_variant	10390	exon7			AATGATCTACAAG	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.909C>A	1.37:g.111725483C>A		152	0		212	104	NM_001007794	0	0	4	15	11	Q69YJ9|Q9P0Y8	Silent	SNP	ENST00000545121.1	37	CCDS830.1																																																																																			.		0.358	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090	
HSD3B1	3283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	120056635	120056635	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120056635G>A	ENST00000369413.3	+	4	634	c.489G>A	c.(487-489)gaG>gaA	p.E163E	HSD3B1_ENST00000528909.1_Silent_p.E163E|HSD3B1_ENST00000235547.6_Silent_p.E165E			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	163					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	AGCTTGCTGAGAAGGCTGTAC	0.522																																					p.E163E		.											.	HSD3B1-92	0			c.G489A						.						84.0	86.0	85.0					1																	120056635		2203	4300	6503	SO:0001819	synonymous_variant	3283	exon4			TGCTGAGAAGGCT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.489G>A	1.37:g.120056635G>A		87	0		76	32	NM_000862	0	0	0	0	0	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																			.		0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
NBPF7	343505	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	120385066	120385066	+	IGR	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120385066C>G								REG4 (30783 upstream) : ADAM30 (51089 downstream)																							CTGAGCTCCTCAGCTTGCTTG	0.527																																					p.E110Q		.											.	NBPF7-24	0			c.G328C						.						125.0	134.0	131.0					1																	120385066		1989	4189	6178	SO:0001628	intergenic_variant	343505	exon2			GCTCCTCAGCTTG																													1.37:g.120385066C>G		96	0		69	37	NM_001047980	0	0	1	1	0		Missense_Mutation	SNP		37																																																																																				.	0	0.527								
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A	rs200088734		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:120438173G>A	ENST00000369400.1	-	1	945	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358																																					p.R263C		.											.	ADAM30-228	0			c.C787T						.						71.0	75.0	74.0					1																	120438173		2203	4300	6503	SO:0001583	missense	11085	exon1			CAACGCGTATTTT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.787C>T	1.37:g.120438173G>A	ENSP00000358407:p.Arg263Cys	63	0		30	12	NM_021794	0	0	0	0	0	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305153	0.40795	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10288	2.89	4.59	-4.04	0.04010	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	2.100920	0.02924	N	0.138395	T	0.07818	0.0196	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	D	0.63488	0.915	T	0.16305	-1.0407	10	0.54805	T	0.06	.	1.2267	0.01934	0.1532:0.3261:0.2621:0.2586	.	263	Q9UKF2	ADA30_HUMAN	C	263	ENSP00000358407:R263C	ENSP00000358407:R263C	R	-	1	0	ADAM30	120239696	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.244000	0.02902	-0.640000	0.05495	-0.471000	0.05019	CGC	.		0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
C1orf54	79630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	150248174	150248174	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:150248174T>C	ENST00000369102.1	+	5	925	c.155T>C	c.(154-156)aTt>aCt	p.I52T	C1orf54_ENST00000369099.3_Missense_Mutation_p.I52T|C1orf54_ENST00000369098.3_Missense_Mutation_p.I52T			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	52						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATTTCACCATTGATTACTCC	0.368																																					p.I52T		.											.	C1orf54-90	0			c.T155C						.						86.0	83.0	84.0					1																	150248174		2203	4300	6503	SO:0001583	missense	79630	exon3			TCACCATTGATTA	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.155T>C	1.37:g.150248174T>C	ENSP00000358098:p.Ile52Thr	124	0		199	85	NM_024579	0	0	53	54	1	Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	CCDS948.1	.	.	.	.	.	.	.	.	.	.	t	12.45	1.941185	0.34283	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	3.82	0.43975	.	0.509323	0.16618	N	0.206621	T	0.09905	0.0243	N	0.22421	0.69	0.21325	N	0.999722	P;P	0.36535	0.557;0.557	B;B	0.34242	0.178;0.128	T	0.07309	-1.0779	9	0.30078	T	0.28	-3.2177	9.2837	0.37744	0.0:0.0:0.0:1.0	.	52;52	Q5TB16;Q8WWF1	.;CA054_HUMAN	T	52	.	ENSP00000358094:I52T	I	+	2	0	C1orf54	148514798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	1.967000	0.57214	0.492000	0.49549	ATT	.		0.368	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579	
HRNR	388697	broad.mit.edu;bcgsc.ca	37	1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152188371G>T	ENST00000368801.2	-	3	5809	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1912					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTTGTTCACCCCTA	0.557																																					p.Q1912K		.											.	HRNR-93	0			c.C5734A						.						843.0	1223.0	1095.0					1																	152188371		2174	4298	6472	SO:0001583	missense	388697	exon3			CGTGTTGTTCACC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5734C>A	1.37:g.152188371G>T	ENSP00000357791:p.Gln1912Lys	1519	1		3986	242	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	6.324	0.427854	0.11987	.	.	ENSG00000197915	ENST00000368801	T	0.02498	4.27	3.73	-1.0	0.10196	.	.	.	.	.	T	0.00496	0.0016	L	0.32530	0.975	0.09310	N	1	B	0.34103	0.437	B	0.21151	0.033	T	0.42799	-0.9430	9	0.05436	T	0.98	.	8.0291	0.30454	0.0:0.5048:0.3234:0.1718	.	1912	Q86YZ3	HORN_HUMAN	K	1912	ENSP00000357791:Q1912K	ENSP00000357791:Q1912K	Q	-	1	0	HRNR	150454995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.169000	0.09911	0.030000	0.15379	-0.265000	0.10407	CAA	.		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	hgsc.bcm.edu;bcgsc.ca	37	1	152276933	152276933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152276933delG	ENST00000368799.1	-	3	10464	c.10429delC	c.(10429-10431)cgtfs	p.R3477fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3477	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCCCACGGGAGGCATCA	0.557									Ichthyosis																												p.R3477fs		.											.	FLG-106	0			c.10429delC						.						290.0	279.0	283.0					1																	152276933		2203	4298	6501	SO:0001589	frameshift_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	GCCCACGGGAGGC	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.10429delC	1.37:g.152276933delG	ENSP00000357789:p.Arg3477fs	145	2		504	212	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152286710	152286710	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152286710C>T	ENST00000368799.1	-	3	687	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	218					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)			CCTGTATTTTCATAATCATAT	0.353									Ichthyosis																												p.E218K		.											.	FLG-106	0			c.G652A						.						103.0	110.0	108.0					1																	152286710		2203	4300	6503	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TATTTTCATAATC	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.652G>A	1.37:g.152286710C>T	ENSP00000357789:p.Glu218Lys	97	0		123	25	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099743	0.37048	.	.	ENSG00000143631	ENST00000368799	T	0.00695	5.83	4.54	-1.03	0.10102	.	.	.	.	.	T	0.00356	0.0011	L	0.46157	1.445	0.09310	N	1	D	0.53151	0.958	P	0.49799	0.622	T	0.36335	-0.9752	9	0.10636	T	0.68	.	3.8888	0.09110	0.1596:0.4627:0.0:0.3777	.	218	P20930	FILA_HUMAN	K	218	ENSP00000357789:E218K	ENSP00000357789:E218K	E	-	1	0	FLG	150553334	0.001000	0.12720	0.000000	0.03702	0.193000	0.23685	0.955000	0.29188	-0.053000	0.13289	0.460000	0.39030	GAA	.		0.353	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LCE4A	199834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152681610	152681610	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152681610A>G	ENST00000368777.1	+	2	315	c.59A>G	c.(58-60)aAg>aGg	p.K20R	LCE4A_ENST00000335535.3_Missense_Mutation_p.K20R			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	20	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCTATCCCCAAGTATCCCCCA	0.527																																					p.K20R		.											.	LCE4A-90	0			c.A59G						.						117.0	129.0	125.0					1																	152681610		2203	4300	6503	SO:0001583	missense	199834	exon1			TCCCCAAGTATCC	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.59A>G	1.37:g.152681610A>G	ENSP00000357766:p.Lys20Arg	142	0		356	66	NM_178356	0	0	0	0	0	Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.304922	0.05495	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.05025	3.51;3.51	3.69	3.69	0.42338	.	.	.	.	.	T	0.06962	0.0177	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.55055	0.767	T	0.16482	-1.0401	8	0.87932	D	0	.	8.6727	0.34161	1.0:0.0:0.0:0.0	.	20	Q5TA78	LCE4A_HUMAN	R	20	ENSP00000357766:K20R;ENSP00000335223:K20R	ENSP00000335223:K20R	K	+	2	0	LCE4A	150948234	0.045000	0.20229	0.003000	0.11579	0.093000	0.18481	1.689000	0.37700	1.521000	0.48983	0.254000	0.18369	AAG	.		0.527	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
SPRR4	163778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152944424	152944424	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:152944424C>A	ENST00000328051.2	+	2	107	c.58C>A	c.(58-60)Cag>Aag	p.Q20K		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)			GAGGGCCCAGCAGCAGCAAGT	0.577																																					p.Q20K		.											.	SPRR4-68	0			c.C58A						.						101.0	95.0	97.0					1																	152944424		2203	4300	6503	SO:0001583	missense	163778	exon2			GCCCAGCAGCAGC	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.58C>A	1.37:g.152944424C>A	ENSP00000332163:p.Gln20Lys	164	0		423	73	NM_173080	0	0	0	0	0	Q2M1Y7|Q5T522	Missense_Mutation	SNP	ENST00000328051.2	37	CCDS1031.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707644	0.15239	.	.	ENSG00000184148	ENST00000328051	T	0.13657	2.57	4.75	3.82	0.43975	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.27306	N	0.957442	B	0.27700	0.186	B	0.28385	0.089	T	0.30387	-0.9980	8	0.87932	D	0	-2.064	10.0571	0.42252	0.2009:0.799:0.0:0.0	.	20	Q96PI1	SPRR4_HUMAN	K	20	ENSP00000332163:Q20K	ENSP00000332163:Q20K	Q	+	1	0	SPRR4	151211048	1.000000	0.71417	0.998000	0.56505	0.283000	0.27025	1.741000	0.38238	1.191000	0.43056	0.460000	0.39030	CAG	.		0.577	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080	
ADAM15	8751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	155028275	155028275	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:155028275G>A	ENST00000356955.2	+	7	723	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ADAM15_ENST00000359280.4_Missense_Mutation_p.V208M|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.V208M|ADAM15_ENST00000449910.2_Missense_Mutation_p.V208M|ADAM15_ENST00000447332.3_Missense_Mutation_p.V192M|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.V208M|ADAM15_ENST00000368412.3_Missense_Mutation_p.V208M|ADAM15_ENST00000355956.2_Missense_Mutation_p.V208M|ADAM15_ENST00000531455.1_Missense_Mutation_p.V218M	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	208					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGGCGGGATGTGGTAACAGA	0.592																																					p.V218M		.											.	ADAM15-651	0			c.G652A						.						168.0	151.0	157.0					1																	155028275		2203	4300	6503	SO:0001583	missense	8751	exon7			CGGGATGTGGTAA	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.622G>A	1.37:g.155028275G>A	ENSP00000349436:p.Val208Met	195	0		473	183	NM_001261464	0	0	0	0	0	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871011	0.72065	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.01068	5.56;5.56;5.55;5.48;5.38;5.55;5.53;5.55	5.06	4.15	0.48705	.	0.000000	0.38111	N	0.001801	T	0.01387	0.0045	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D;D;D;D	0.79784	0.969;0.969;0.984;0.993;0.988;0.986;0.986;0.986;0.975;0.984	T	0.68405	-0.5417	10	0.72032	D	0.01	.	11.1676	0.48552	0.0897:0.0:0.9103:0.0	.	218;225;192;208;208;208;208;208;208;208	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	M	208;208;208;208;208;208;208;218	ENSP00000349436:V208M;ENSP00000403843:V208M;ENSP00000352226:V208M;ENSP00000353892:V208M;ENSP00000357397:V208M;ENSP00000348227:V208M;ENSP00000271836:V208M;ENSP00000432927:V218M	ENSP00000271836:V208M	V	+	1	0	ADAM15	153294899	0.683000	0.27633	0.715000	0.30552	0.980000	0.70556	3.394000	0.52551	1.350000	0.45770	0.462000	0.41574	GTG	.		0.592	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	
BCAN	63827	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156628418	156628418	+	Missense_Mutation	SNP	C	C	T	rs377573150		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:156628418C>T	ENST00000329117.5	+	13	2857	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	841	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	p.R841C(1)		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)					CACTGTGCTTCGCTACCGGTG	0.652																																					p.R841C		.											.	BCAN-516	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.C2521T						.						66.0	72.0	70.0					1																	156628418		2203	4300	6503	SO:0001583	missense	63827	exon13			GTGCTTCGCTACC	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.2521C>T	1.37:g.156628418C>T	ENSP00000331210:p.Arg841Cys	169	1		594	118	NM_021948	0	0	0	0	0	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612676	0.87258	.	.	ENSG00000132692	ENST00000329117	T	0.66815	-0.23	5.2	4.26	0.50523	Complement control module (2);Sushi/SCR/CCP (3);	0.209202	0.28236	N	0.016082	T	0.79429	0.4444	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.83054	-0.0151	10	0.87932	D	0	-14.2458	8.4594	0.32919	0.1758:0.6545:0.1697:0.0	.	841	Q96GW7	PGCB_HUMAN	C	841	ENSP00000331210:R841C	ENSP00000331210:R841C	R	+	1	0	BCAN	154895042	0.993000	0.37304	0.997000	0.53966	0.981000	0.71138	3.040000	0.49799	1.380000	0.46344	0.555000	0.69702	CGC	.		0.652	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
ATP1A4	480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160141399	160141399	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:160141399G>T	ENST00000368081.4	+	12	2177	c.1706G>T	c.(1705-1707)aGc>aTc	p.S569I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	569					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)			AATCTGCCTAGCAGCTTCTCC	0.473																																					p.S569I		.											.	ATP1A4-94	0			c.G1706T						.						142.0	157.0	152.0					1																	160141399		2203	4300	6503	SO:0001583	missense	480	exon12			TGCCTAGCAGCTT	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.1706G>T	1.37:g.160141399G>T	ENSP00000357060:p.Ser569Ile	36	0		30	25	NM_144699	0	0	0	0	0	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422229	0.25639	.	.	ENSG00000132681	ENST00000368081	T	0.76578	-1.03	4.19	-0.767	0.11016	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.958426	0.08779	N	0.894955	T	0.50497	0.1619	L	0.35414	1.06	0.22305	N	0.99922	B	0.28055	0.199	B	0.36335	0.222	T	0.55321	-0.8159	10	0.87932	D	0	.	5.4119	0.16352	0.2141:0.1871:0.5989:0.0	.	569	Q13733	AT1A4_HUMAN	I	569	ENSP00000357060:S569I	ENSP00000357060:S569I	S	+	2	0	ATP1A4	158408023	0.779000	0.28652	0.058000	0.19502	0.789000	0.44602	1.792000	0.38754	-0.104000	0.12154	0.655000	0.94253	AGC	.		0.473	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	176852120	176852120	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:176852120C>T	ENST00000367654.3	-	20	3472	c.3261G>A	c.(3259-3261)ctG>ctA	p.L1087L	ASTN1_ENST00000361833.2_Silent_p.L1079L|ASTN1_ENST00000424564.2_Silent_p.L1079L|ASTN1_ENST00000367657.3_Silent_p.L1079L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1087	Fibronectin type-III 1.				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						CCACAAAGCTCAGCACTGTTT	0.478																																					p.L1079L		.											.	ASTN1-319	0			c.G3237A						.						128.0	117.0	121.0					1																	176852120		2203	4300	6503	SO:0001819	synonymous_variant	460	exon20			AAAGCTCAGCACT	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.3261G>A	1.37:g.176852120C>T		169	0		218	82	NM_207108	0	0	0	0	0	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																				.		0.478	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		6	6	NM_022371	0	0	0	0	0	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
ACBD6	84320	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	180471345	180471345	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:180471345C>G	ENST00000367595.3	-	1	744	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	19						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CCCCTGAGCTCAGCTCTCCAC	0.652																																					p.L19L		.											.	ACBD6-91	0			c.G57C						.						36.0	38.0	38.0					1																	180471345		2203	4300	6503	SO:0001819	synonymous_variant	84320	exon1			TGAGCTCAGCTCT	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.57G>C	1.37:g.180471345C>G		240	2		313	122	NM_032360	0	0	19	39	20		Silent	SNP	ENST00000367595.3	37	CCDS1339.1																																																																																			.		0.652	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
RGSL1	353299	broad.mit.edu	37	1	182443462	182443462	+	Silent	SNP	T	T	C	rs649437	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:182443462T>C	ENST00000294854.8	+	6	1236	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	RGSL1_ENST00000542961.1_Silent_p.L441L	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	406					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						CTGGCAGGACTTGCAGCATTT	0.488													C|||	2373	0.473842	0.5484	0.5274	5008	,	,		21947	0.4593		0.3489	False		,,,				2504	0.4785				p.L406L	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1-226	0			c.T1216C						.	C		698,686		188,322,182	160.0	134.0	142.0		1216	3.0	1.0	1	dbSNP_83	142	1082,2100		165,752,674	no	coding-synonymous	RGSL1	NM_001137669.1		353,1074,856	CC,CT,TT		34.0038,49.5665,38.9838		406/1077	182443462	1780,2786	692	1591	2283	SO:0001819	synonymous_variant	353299	exon6			CAGGACTTGCAGC	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1216T>C	1.37:g.182443462T>C		208	2		307	7	NM_001137669	0	0	0	0	0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Silent	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			T|0.553;C|0.447		0.488	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	
RNF2	6045	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	185069018	185069018	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:185069018C>G	ENST00000367510.3	+	6	1121	c.833C>G	c.(832-834)tCa>tGa	p.S278*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.S206*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	278					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AAAGGTGAATCAAACCAGATG	0.398																																					p.S278X		.											.	RNF2-658	0			c.C833G						.						102.0	102.0	102.0					1																	185069018		2203	4300	6503	SO:0001587	stop_gained	6045	exon6			GTGAATCAAACCA	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.833C>G	1.37:g.185069018C>G	ENSP00000356480:p.Ser278*	254	2		334	121	NM_007212	0	0	13	15	2	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000367510.3	37	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905381	0.92107	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	.	.	.	5.83	5.83	0.93111	.	0.175723	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.1957	14.9592	0.71144	0.1427:0.8573:0.0:0.0	.	.	.	.	X	278;206	.	ENSP00000356479:S206X	S	+	2	0	RNF2	183335641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.465000	0.66725	2.771000	0.95319	0.650000	0.86243	TCA	.		0.398	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212	
RNPEP	6051	hgsc.bcm.edu	37	1	201951890	201951890	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:201951890G>T	ENST00000295640.4	+	1	139	c.96G>T	c.(94-96)cgG>cgT	p.R32R	RNPEP_ENST00000367286.3_Silent_p.R32R	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	32					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CCAACTTCCGGGCCTTTGAGC	0.761																																					p.R32R	GBM(19;39 479 7473 13131 19462)	.											.	RNPEP-91	0			c.G96T						.						1.0	2.0	2.0					1																	201951890		1158	2356	3514	SO:0001819	synonymous_variant	6051	exon1			CTTCCGGGCCTTT	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.96G>T	1.37:g.201951890G>T		10	0		50	4	NM_020216	0	0	1	1	0	Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	CCDS1418.1																																																																																			.		0.761	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
GPATCH2	55105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	217793701	217793701	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:217793701C>A	ENST00000366935.3	-	2	307	c.197G>T	c.(196-198)aGg>aTg	p.R66M	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R66M	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	66					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTCCTTTTCCTTGCCTGGCG	0.488																																					p.R66M		.											.	GPATCH2-91	0			c.G197T						.						138.0	123.0	128.0					1																	217793701		2203	4300	6503	SO:0001583	missense	55105	exon2			CTTTTCCTTGCCT	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.197G>T	1.37:g.217793701C>A	ENSP00000355902:p.Arg66Met	58	0		85	60	NM_018040	0	0	0	2	2	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823892	0.90873	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.62364	0.53;0.03	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79344	-0.1842	10	0.59425	D	0.04	-23.032	19.8124	0.96553	0.0:1.0:0.0:0.0	.	66;66	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	M	66	ENSP00000355902:R66M;ENSP00000355901:R66M	ENSP00000355901:R66M	R	-	2	0	GPATCH2	215860324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.440000	0.80464	2.671000	0.90904	0.591000	0.81541	AGG	.		0.488	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
MARK1	4139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	220835222	220835222	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:220835222G>T	ENST00000366917.4	+	18	2368	c.2102G>T	c.(2101-2103)cGg>cTg	p.R701L	MARK1_ENST00000402574.1_Missense_Mutation_p.R551L|MARK1_ENST00000366918.4_Missense_Mutation_p.R664L|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CGTTCTTTGCGGTTCACATGG	0.413																																					p.R701L		.											.	MARK1-802	0			c.G2102T						.						63.0	62.0	62.0					1																	220835222		2203	4300	6503	SO:0001583	missense	4139	exon18			CTTTGCGGTTCAC	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2102G>T	1.37:g.220835222G>T	ENSP00000355884:p.Arg701Leu	163	1		191	147	NM_018650	0	0	0	9	9		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	36	5.700717	0.96802	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.53857	0.6;0.6;0.6	5.92	5.92	0.95590	Kinase-associated KA1 (2);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.987;1.0	D;D;P;D	0.97110	1.0;0.99;0.744;0.998	T	0.81695	-0.0816	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	686;551;701;664	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	551;664;701	ENSP00000386017:R551L;ENSP00000355885:R664L;ENSP00000355884:R701L	ENSP00000355884:R701L	R	+	2	0	MARK1	218901845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	CGG	.		0.413	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	228471220	228471220	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:228471220C>T	ENST00000422127.1	+	33	8798	c.8754C>T	c.(8752-8754)ttC>ttT	p.F2918F	OBSCN_ENST00000570156.2_Silent_p.F3347F|OBSCN_ENST00000366709.4_Silent_p.F37F|OBSCN_ENST00000366707.4_Silent_p.F37F|OBSCN_ENST00000359599.6_Silent_p.F1765F|OBSCN_ENST00000284548.11_Silent_p.F2918F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2918					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAACTGCTTCACAGAGGAGC	0.632																																					p.F3347F		.											.	OBSCN-403	0			c.C10041T						.						38.0	41.0	40.0					1																	228471220		2083	4205	6288	SO:0001819	synonymous_variant	84033	exon38			CTGCTTCACAGAG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8754C>T	1.37:g.228471220C>T		181	0		318	102	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228504670	228504670	+	Missense_Mutation	SNP	C	C	T	rs11810627	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:228504670C>T	ENST00000422127.1	+	51	13590	c.13546C>T	c.(13546-13548)Cgg>Tgg	p.R4516W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCTCTGCGCGGCTCACCGT	0.736													c|||	1654	0.330272	0.2791	0.4006	5008	,	,		13971	0.249		0.4861	False		,,,				2504	0.273				p.R5473W		.											.	OBSCN-403	0			c.C16417T						.		TRP/ARG,TRP/ARG	923,2833		165,593,1120	5.0	6.0	6.0		13546,13546	-1.0	0.0	1	dbSNP_120	6	3333,4245		861,1611,1317	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	1026,2204,2437	TT,TC,CC		43.9826,24.574,37.5507	probably-damaging,probably-damaging	4516/7969,4516/6621	228504670	4256,7078	1878	3789	5667	SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13546C>T	1.37:g.228504670C>T	ENSP00000409493:p.Arg4516Trp	0	0		9	9	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	774	0.3543956043956044	137	0.2784552845528455	144	0.39779005524861877	134	0.23426573426573427	359	0.4736147757255937	c	11.94	1.787178	0.31593	0.24574	0.439826	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.77098	-1.07;-1.07;0.2;0.2	5.41	-0.971	0.10303	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.167607	0.36519	N	0.002550	T	0.00012	0.0000	L	0.41824	1.3	0.50632	P	1.1499999999997623E-4	B;B	0.22541	0.071;0.067	B;B	0.12156	0.007;0.007	T	0.42275	-0.9461	9	0.45353	T	0.12	.	10.3619	0.43998	0.6084:0.317:0.0:0.0747	rs11810627	4516;4516	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4516;4516;2150;1635	ENSP00000284548:R4516W;ENSP00000409493:R4516W;ENSP00000355668:R2150W;ENSP00000355670:R1635W	ENSP00000284548:R4516W	R	+	1	2	OBSCN	226571293	0.968000	0.33430	0.013000	0.15412	0.016000	0.09150	2.032000	0.41127	-0.028000	0.13850	0.550000	0.68814	CGG	C|0.643;T|0.357		0.736	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
KIF26B	55083	bcgsc.ca	37	1	245582995	245582995	+	Missense_Mutation	SNP	G	G	C	rs377008899		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:245582995G>C	ENST00000407071.2	+	4	1554	c.1114G>C	c.(1114-1116)Gtg>Ctg	p.V372L		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	372					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGCTCCTGCGTGGCCAGCGA	0.597																																					p.V372L		.											.	KIF26B-25	0			c.G1114C						.						85.0	88.0	87.0					1																	245582995		1995	4164	6159	SO:0001583	missense	55083	exon4			TCCTGCGTGGCCA	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1114G>C	1.37:g.245582995G>C	ENSP00000385545:p.Val372Leu	225	4		361	272	NM_018012	0	0	0	0	0	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276626	0.23307	.	.	ENSG00000162849	ENST00000407071	T	0.77489	-1.1	5.35	2.46	0.29980	.	.	.	.	.	T	0.66963	0.2843	L	0.36672	1.1	0.21499	N	0.999665	B	0.09022	0.002	B	0.08055	0.003	T	0.56402	-0.7985	9	0.52906	T	0.07	.	8.1591	0.31187	0.1365:0.0:0.7346:0.1288	.	372	Q2KJY2	KI26B_HUMAN	L	372	ENSP00000385545:V372L	ENSP00000385545:V372L	V	+	1	0	KIF26B	243649618	0.888000	0.30383	0.291000	0.24904	0.786000	0.44442	3.478000	0.53158	0.238000	0.21222	-0.165000	0.13383	GTG	.		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
OR2W5	441932	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	247654468	247654468	+	RNA	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:247654468C>T	ENST00000522351.1	+	0	99							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGCATTCATCCTGGTGGGCT	0.473																																					p.I13I		.											.	OR2W5-115	0			c.C39T						.						158.0	147.0	151.0					1																	247654468		2203	4300	6503			441932	exon1			ATTCATCCTGGTG			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654468C>T		88	0		143	106	NM_001004698	0	0	0	0	0	B9EH85	Silent	SNP	ENST00000522351.1	37																																																																																				.		0.473	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
FBXO18	84893	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	5979171	5979172	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:5979171_5979172delGC	ENST00000362091.4	+	21	3175_3176	c.3060_3061delGC	c.(3058-3063)gtgcgcfs	p.R1021fs	FBXO18_ENST00000397269.3_Frame_Shift_Del_p.R525fs|RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000379999.5_Frame_Shift_Del_p.R1072fs	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1021					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGAGCAGGTGCGCGCCATGGA	0.644																																					p.1071_1072del		.											.	FBXO18-228	0			c.3213_3214del						.																																			SO:0001589	frameshift_variant	84893	exon22			GCAGGTGCGCGCC	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3060_3061delGC	10.37:g.5979175_5979176delGC	ENSP00000355415:p.Arg1021fs	181	0		239	76	NM_032807	0	0	0	0	0	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Frame_Shift_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																			.		0.644	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
FAM171A1	221061	broad.mit.edu	37	10	15326029	15326029	+	Missense_Mutation	SNP	G	G	T	rs76275809		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:15326029G>T	ENST00000378116.4	-	2	179	c.173C>A	c.(172-174)aCc>aAc	p.T58N		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	58						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTGGTTGGTGAAGATCTC	0.557																																					p.T58N		.											.	FAM171A1-138	0			c.C173A						.						81.0	72.0	75.0					10																	15326029		2203	4300	6503	SO:0001583	missense	221061	exon2			TGGTTGGTGAAGA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.173C>A	10.37:g.15326029G>T	ENSP00000367356:p.Thr58Asn	78	0		114	3	NM_001010924	0	0	0	0	0	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386785	0.42308	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.30182	1.54;1.54	5.25	1.1	0.20463	.	0.325971	0.36555	N	0.002532	T	0.21509	0.0518	L	0.44542	1.39	0.47245	D	0.999363	B	0.10296	0.003	B	0.12156	0.007	T	0.05517	-1.0880	10	0.54805	T	0.06	-11.9588	4.6125	0.12409	0.1354:0.1149:0.6161:0.1336	.	58	Q5VUB5	F1711_HUMAN	N	58;58;59;58	ENSP00000367356:T58N;ENSP00000407796:T58N	ENSP00000367354:T58N	T	-	2	0	FAM171A1	15366035	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	3.004000	0.49513	0.002000	0.14630	-0.216000	0.12614	ACC	G|0.500;C|0.500		0.557	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
ITGA8	8516	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	15761654	15761654	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:15761654G>A	ENST00000378076.3	-	1	470	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	39					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGTCCAGGTTGAACGCCTGAC	0.692																																					p.F39F		.											.	ITGA8-230	0			c.C117T						.						18.0	16.0	17.0					10																	15761654		2201	4295	6496	SO:0001819	synonymous_variant	8516	exon1			CAGGTTGAACGCC	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.117C>T	10.37:g.15761654G>A		16	0		44	14	NM_003638	0	0	0	0	0	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																			.		0.692	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
WDFY4	57705	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	50184861	50184861	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:50184861C>A	ENST00000325239.5	+	58	9155	c.9128C>A	c.(9127-9129)gCg>gAg	p.A3043E	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR|RP11-523O18.5_ENST00000428825.4_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	3043						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						GTCTCCTGTGCGGGAGCACAC	0.592																																					p.A3043E		.											.	WDFY4-22	0			c.C9128A						.						38.0	42.0	41.0					10																	50184861		692	1591	2283	SO:0001583	missense	57705	exon59			CCTGTGCGGGAGC	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.9128C>A	10.37:g.50184861C>A	ENSP00000320563:p.Ala3043Glu	135	1		208	80	NM_020945	0	0	1	1	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.156630|4.156630	0.78114|0.78114	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000544136|ENST00000312002	T|.	0.29397|.	1.57|.	4.7|4.7	4.7|4.7	0.59300|0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76219|.	0.3957|.	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|.	0.78204|.	-0.2295|.	9|.	.|.	.|.	.|.	.|.	12.9766|12.9766	0.58540|0.58540	0.0:0.8376:0.1624:0.0|0.0:0.8376:0.1624:0.0	.|.	3043|.	Q6ZS81|.	WDFY4_HUMAN|.	E|X	3043;3043;506|2133	ENSP00000320563:A3043E|.	.|.	A|C	+|+	2|3	0|2	WDFY4|WDFY4	49854867|49854867	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.967000|0.967000	0.64934|0.64934	5.473000|5.473000	0.66774|0.66774	2.596000|2.596000	0.87737|0.87737	0.462000|0.462000	0.41574|0.41574	GCG|TGC	.		0.592	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
ANK3	288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	61847904	61847904	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:61847904C>A	ENST00000280772.2	-	29	3732		c.e29+1		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						GTGAACATTACCTGGAGGCCC	0.463																																					.		.											.	ANK3-107	0			c.942+1G>T						.						89.0	92.0	91.0					10																	61847904		2203	4300	6503	SO:0001630	splice_region_variant	288	exon8			ACATTACCTGGAG	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.3540+1G>T	10.37:g.61847904C>A		47	0		58	24	NM_001149	0	0	0	0	0	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545319	0.86022	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK3	61517910	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	.	.		0.463	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Intron
HKDC1	80201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	71018532	71018532	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:71018532G>A	ENST00000354624.5	+	15	2166	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E	HKDC1_ENST00000395086.2_Splice_Site_p.G678E	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	678	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTCCTTCTAGGAACAGGCAGC	0.458																																					p.G678E		.											.	HKDC1-95	0			c.G2033A						.						108.0	99.0	102.0					10																	71018532		2203	4300	6503	SO:0001630	splice_region_variant	80201	exon15			TTCTAGGAACAGG		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2033-1G>A	10.37:g.71018532G>A		79	0		99	30	NM_025130	0	0	0	0	0	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.392480	0.83011	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.99829	-7.0;-7.0	5.29	5.29	0.74685	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.95745	3.715	0.80722	D	1	P	0.41748	0.761	D	0.68621	0.959	D	0.95275	0.8381	9	.	.	.	.	18.9214	0.92526	0.0:0.0:1.0:0.0	.	678	Q2TB90	HKDC1_HUMAN	E	678	ENSP00000346643:G678E;ENSP00000378521:G678E	.	G	+	2	0	HKDC1	70688538	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.186000	0.94906	2.461000	0.83175	0.455000	0.32223	GGA	.		0.458	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	Missense_Mutation
NRG3	10718	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	84733611	84733611	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:84733611C>A	ENST00000404547.1	+	7	1352	c.1352C>A	c.(1351-1353)cCc>cAc	p.P451H	NRG3_ENST00000372141.2_Missense_Mutation_p.P451H|NRG3_ENST00000404576.2_Missense_Mutation_p.P255H|NRG3_ENST00000537893.1_Missense_Mutation_p.P101H|NRG3_ENST00000545131.1_Missense_Mutation_p.P101H|NRG3_ENST00000556918.1_Missense_Mutation_p.P281H|NRG3_ENST00000372142.2_Missense_Mutation_p.P230H			P56975	NRG3_HUMAN	neuregulin 3	451					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTGTCGGCCCCCAGTCATTC	0.502																																					p.P451H		.											.	NRG3-522	0			c.C1352A						.						125.0	104.0	111.0					10																	84733611		2203	4300	6503	SO:0001583	missense	10718	exon7			TCGGCCCCCAGTC	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1352C>A	10.37:g.84733611C>A	ENSP00000384796:p.Pro451His	159	1		298	129	NM_001010848	0	0	0	0	0	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557222	0.65425	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54479	1.39;1.43;0.57;0.57;0.57;0.57;0.57	6.06	5.09	0.68999	.	0.330996	0.25900	N	0.027578	T	0.46483	0.1395	L	0.36672	1.1	0.28042	N	0.93371	P;P;P;P	0.44946	0.773;0.846;0.731;0.773	B;B;B;B	0.43274	0.366;0.386;0.414;0.366	T	0.42565	-0.9444	10	0.30854	T	0.27	-26.517	15.71	0.77620	0.1458:0.8542:0.0:0.0	.	450;451;230;451	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	H	451;451;450;230;255;281;101;101	ENSP00000361214:P451H;ENSP00000384796:P451H;ENSP00000361215:P230H;ENSP00000385804:P255H;ENSP00000451376:P281H;ENSP00000441201:P101H;ENSP00000440377:P101H	ENSP00000361214:P451H	P	+	2	0	NRG3	84723591	0.837000	0.29446	0.997000	0.53966	0.996000	0.88848	2.547000	0.45786	2.880000	0.98712	0.650000	0.86243	CCC	.		0.502	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
LRIT2	340745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	85982398	85982398	+	Nonsense_Mutation	SNP	C	C	A	rs371062772		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:85982398C>A	ENST00000372113.4	-	3	936	c.931G>T	c.(931-933)Gag>Tag	p.E311*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.E321*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	311	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATGGCCAGCTCTGACAGAGCA	0.473																																					p.E311X		.											.	LRIT2-92	0			c.G931T						.						62.0	56.0	58.0					10																	85982398		2203	4300	6503	SO:0001587	stop_gained	340745	exon3			CCAGCTCTGACAG		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.931G>T	10.37:g.85982398C>A	ENSP00000361185:p.Glu311*	247	0		364	137	NM_001017924	0	0	0	0	0	B7ZME6	Nonsense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784969	0.49997	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	.	.	.	5.52	1.34	0.21922	.	0.554796	0.19730	N	0.107362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.5193	0.50541	0.0:0.6837:0.2408:0.0755	.	.	.	.	X	311;321	.	ENSP00000361185:E311X	E	-	1	0	LRIT2	85972378	0.881000	0.30235	0.059000	0.19551	0.207000	0.24258	1.592000	0.36676	-0.022000	0.13986	0.557000	0.71058	GAG	.		0.473	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697	
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	96084321	96084321	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:96084321G>A	ENST00000371380.3	+	30	6952	c.6717G>A	c.(6715-6717)gtG>gtA	p.V2239V	PLCE1_ENST00000371385.3_Silent_p.V1931V|PLCE1_ENST00000260766.3_Silent_p.V2239V|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Silent_p.V1931V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2239					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAGCAGGTGCAGGTAAAGT	0.423																																					p.V2239V		.											.	PLCE1-229	0			c.G6717A						.						89.0	88.0	88.0					10																	96084321		1882	4113	5995	SO:0001819	synonymous_variant	51196	exon31			GCAGGTGCAGGTA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6717G>A	10.37:g.96084321G>A		72	0		90	33	NM_016341	0	0	0	0	0	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			.		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
RBM20	282996	hgsc.bcm.edu	37	10	112404302	112404302	+	Silent	SNP	G	G	A	rs35141404	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:112404302G>A	ENST00000369519.3	+	1	148	c.90G>A	c.(88-90)cgG>cgA	p.R30R	Y_RNA_ENST00000411370.1_RNA	NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	30	Pro-rich.				heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CTGGTGCCCGGGCGTCCCCGG	0.746													G|||	1113	0.222244	0.4206	0.1354	5008	,	,		7996	0.1617		0.1392	False		,,,				2504	0.1636				p.R30R		.											.	.	0			c.G90A						.						4.0	9.0	7.0					10																	112404302		625	1495	2120	SO:0001819	synonymous_variant	282996	exon1			TGCCCGGGCGTCC	BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.90G>A	10.37:g.112404302G>A		0	0		22	17	NM_001134363	0	0	0	0	0	A6NIP5|B5A868|Q5JVI1	Silent	SNP	ENST00000369519.3	37	CCDS44477.1																																																																																			G|0.808;A|0.192		0.746	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
HSPA12A	259217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118451896	118451896	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:118451896G>C	ENST00000369209.3	-	6	733	c.629C>G	c.(628-630)cCg>cGg	p.P210R		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	210						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTGCTTGGCCGGCTGCTTCCA	0.582																																					p.P210R		.											.	HSPA12A-206	0			c.C629G						.						118.0	130.0	126.0					10																	118451896		2197	4300	6497	SO:0001583	missense	259217	exon6			TTGGCCGGCTGCT	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.629C>G	10.37:g.118451896G>C	ENSP00000358211:p.Pro210Arg	75	0		141	57	NM_025015	0	0	1	1	0		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076163	0.94000	.	.	ENSG00000165868	ENST00000369209	T	0.03663	3.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	L	0.33485	1.01	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.01078	-1.1459	10	0.72032	D	0.01	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	210	O43301	HS12A_HUMAN	R	210	ENSP00000358211:P210R	ENSP00000358211:P210R	P	-	2	0	HSPA12A	118441886	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	9.339000	0.96797	2.755000	0.94549	0.655000	0.94253	CCG	.		0.582	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
C10orf120	399814	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	124457937	124457937	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:124457937C>G	ENST00000329446.4	-	3	351	c.320G>C	c.(319-321)aGa>aCa	p.R107T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	107										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTGAGCATTCTGCATTCTTC	0.423																																					p.R107T		.											.	C10orf120-91	0			c.G320C						.						227.0	237.0	233.0					10																	124457937		2203	4300	6503	SO:0001583	missense	399814	exon3			AGCATTCTGCATT		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.320G>C	10.37:g.124457937C>G	ENSP00000331012:p.Arg107Thr	106	0		184	68	NM_001010912	0	0	0	0	0	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.310|4.310	0.056799|0.056799	0.08339|0.08339	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000432000|ENST00000329446	.|T	.|0.33654	.|1.4	4.82|4.82	1.01|1.01	0.19927|0.19927	.|.	.|0.522668	.|0.17394	.|N	.|0.175814	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.15492|0.15492	-1.0435|-1.0435	5|10	.|0.62326	.|D	.|0.03	-14.8206|-14.8206	3.6543|3.6543	0.08215|0.08215	0.0:0.2083:0.1935:0.5982|0.0:0.2083:0.1935:0.5982	.|.	.|107	.|Q5SQS8	.|CJ120_HUMAN	Q|T	100|107	.|ENSP00000331012:R107T	.|ENSP00000331012:R107T	E|R	-|-	1|2	0|0	C10orf120|C10orf120	124447927|124447927	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.025000|0.025000	0.11179|0.11179	0.045000|0.045000	0.14013|0.14013	0.088000|0.088000	0.17205|0.17205	-0.300000|-0.300000	0.09419|0.09419	GAA|AGA	.		0.423	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912	
MKI67	4288	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	129903549	129903549	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:129903549C>T	ENST00000368654.3	-	13	6930	c.6555G>A	c.(6553-6555)aaG>aaA	p.K2185K	MKI67_ENST00000368653.3_Silent_p.K1825K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2185	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCTTTTCCCTTAGGAGTTC	0.478																																					p.K2185K		.											.	MKI67-519	0			c.G6555A						.						156.0	151.0	153.0					10																	129903549		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon13			TTTTCCCTTAGGA	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6555G>A	10.37:g.129903549C>T		167	1		164	52	NM_002417	0	0	2	8	6	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																			.		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
ZNF511	118472	hgsc.bcm.edu	37	10	135122507	135122507	+	Silent	SNP	G	G	A	rs3008357	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:135122507G>A	ENST00000359035.3	+	1	63	c.60G>A	c.(58-60)ccG>ccA	p.P20P	ZNF511_ENST00000368554.4_5'Flank|TUBGCP2_ENST00000368563.2_5'UTR|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Silent_p.P20P			Q8NB15	ZN511_HUMAN	zinc finger protein 511	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CGGCGGAGCCGCTGCCTGTAG	0.781													A|||	1022	0.204073	0.3828	0.2176	5008	,	,		7110	0.0635		0.1511	False		,,,				2504	0.1524				p.P20P		.											.	ZNF511-90	0			c.G60A						.						2.0	2.0	2.0					10																	135122507		1305	2802	4107	SO:0001819	synonymous_variant	118472	exon1			GGAGCCGCTGCCT	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.60G>A	10.37:g.135122507G>A		1	0		9	6	NM_145806	0	0	1	1	0	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37																																																																																				G|0.816;A|0.184		0.781	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806	
ECHS1	1892	hgsc.bcm.edu	37	10	135186834	135186834	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr10:135186834C>A	ENST00000368547.3	-	1	359	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	2					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CGCAGGGCGGCCATGGCTCTC	0.751																																					p.A2S	GBM(132;1720 1771 5373 10277 21402)	.											.	ECHS1-90	0			c.G4T						.						9.0	14.0	12.0					10																	135186834		1957	3801	5758	SO:0001583	missense	1892	exon1			GGGCGGCCATGGC		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.4G>T	10.37:g.135186834C>A	ENSP00000357535:p.Ala2Ser	0	0		41	28	NM_004092	0	0	4	19	15	O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695011	0.48202	.	.	ENSG00000127884	ENST00000368547	T	0.63096	-0.02	3.75	2.84	0.33178	.	.	.	.	.	T	0.38719	0.1051	N	0.08118	0	0.22656	N	0.998886	B	0.21520	0.057	B	0.15052	0.012	T	0.20009	-1.0288	9	0.28530	T	0.3	.	9.1411	0.36903	0.0:0.8882:0.0:0.1118	.	2	P30084	ECHM_HUMAN	S	2	ENSP00000357535:A2S	ENSP00000357535:A2S	A	-	1	0	ECHS1	135036824	0.998000	0.40836	0.629000	0.29254	0.011000	0.07611	2.722000	0.47269	0.909000	0.36697	0.493000	0.49557	GCC	.		0.751	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
MUC2	4583	bcgsc.ca	37	11	1093022	1093022	+	Missense_Mutation	SNP	C	C	T	rs200733547		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093022C>T	ENST00000441003.2	+	30	4868	c.4841C>T	c.(4840-4842)aCg>aTg	p.T1614M	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	accaccactacggtgacccca	0.627																																					p.T1614M		.											.	MUC2-90	0			c.C4841T						.						83.0	121.0	107.0					11																	1093022		1841	3470	5311	SO:0001583	missense	4583	exon30			CCACTACGGTGAC	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.4841C>T	11.37:g.1093022C>T	ENSP00000415183:p.Thr1614Met	106	2		165	22	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	1.663	-0.510872	0.04231	.	.	ENSG00000198788	ENST00000441003	T	0.14640	2.49	1.35	-0.0591	0.13794	.	.	.	.	.	T	0.10121	0.0248	.	.	.	0.09310	N	1	D	0.71674	0.998	B	0.44085	0.44	T	0.28332	-1.0047	8	0.36615	T	0.2	.	4.6948	0.12799	0.525:0.475:0.0:0.0	.	1614	E7EUV1	.	M	1614	ENSP00000415183:T1614M	ENSP00000415183:T1614M	T	+	2	0	MUC2	1083022	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.680000	0.05197	0.732000	0.32470	0.121000	0.15741	ACG	.		0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC2	4583	bcgsc.ca	37	11	1093254	1093254	+	Silent	SNP	C	C	T	rs111164664		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093254C>T	ENST00000441003.2	+	30	5100	c.5073C>T	c.(5071-5073)acC>acT	p.T1691T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1658T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	caacacccaccggcacacaga	0.632																																					p.T1691T		.											.	MUC2-90	0			c.C5073T						.						100.0	145.0	129.0					11																	1093254		1824	3303	5127	SO:0001819	synonymous_variant	4583	exon30			ACCCACCGGCACA	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.5073C>T	11.37:g.1093254C>T		86	4		149	12	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC2	4583	broad.mit.edu	37	11	1093299	1093299	+	Silent	SNP	G	G	A	rs113492997		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093299G>A	ENST00000441003.2	+	30	5145	c.5118G>A	c.(5116-5118)acG>acA	p.T1706T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1673T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaccactacggtgaccccaa	0.637																																					p.T1706T		.											.	MUC2-90	0			c.G5118A						.																																			SO:0001819	synonymous_variant	4583	exon30			CACTACGGTGACC	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.5118G>A	11.37:g.1093299G>A		118	0		163	6	NM_002457	0	0	0	0	0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																				.		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	hgsc.bcm.edu;bcgsc.ca	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	31	0		128	16	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BRSK2	9024	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1472024	1472024	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1472024G>T	ENST00000528841.1	+	14	1879	c.1495G>T	c.(1495-1497)Gtt>Ttt	p.V499F	BRSK2_ENST00000528710.1_Splice_Site_p.V439F|BRSK2_ENST00000531197.1_Splice_Site_p.V499F|BRSK2_ENST00000526678.1_Splice_Site_p.V521F|BRSK2_ENST00000382179.1_Splice_Site_p.V545F|BRSK2_ENST00000308230.5_Splice_Site_p.V521F|BRSK2_ENST00000308219.9_Splice_Site_p.V499F|BRSK2_ENST00000544817.1_Splice_Site_p.V194F			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	499					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GAAACTGCAAGGTGAGTGTCT	0.697																																					p.V545F		.											.	BRSK2-333	0			c.G1633T						.						15.0	20.0	18.0					11																	1472024		2040	4191	6231	SO:0001630	splice_region_variant	9024	exon14			CTGCAAGGTGAGT	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1495+1G>T	11.37:g.1472024G>T		186	1		361	155	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	CCDS58107.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.027532|3.027532	0.54683|0.54683	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000533606|ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	.|T;T;T;T;T;T;T;T	.|0.57752	.|0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	4.53|4.53	3.54|3.54	0.40534|0.40534	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.69672|0.69672	0.3137|0.3137	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.997;0.994	.|D;D;D;D;D	.|0.91635	.|0.999;0.984;0.999;0.947;0.943	T|T	0.71527|0.71527	-0.4566|-0.4566	5|10	.|0.44086	.|T	.|0.13	.|.	13.2324|13.2324	0.59951|0.59951	0.0:0.0:0.8404:0.1596|0.0:0.0:0.8404:0.1596	.|.	.|521;545;499;499;499	.|Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.|.;.;.;BRSK2_HUMAN;.	I|F	37|499;499;521;499;521;439;545;194	.|ENSP00000310697:V499F;ENSP00000431152:V499F;ENSP00000310805:V521F;ENSP00000432000:V499F;ENSP00000433370:V521F;ENSP00000433235:V439F;ENSP00000371614:V545F;ENSP00000445168:V194F	.|ENSP00000310697:V499F	S|V	+|+	2|1	0|0	BRSK2|BRSK2	1428600|1428600	1.000000|1.000000	0.71417|0.71417	0.882000|0.882000	0.34594|0.34594	0.016000|0.016000	0.09150|0.09150	6.279000|6.279000	0.72620|0.72620	2.074000|2.074000	0.62210|0.62210	0.555000|0.555000	0.69702|0.69702	AGT|GTT	.		0.697	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	Missense_Mutation
NUP98	4928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	3752722	3752722	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:3752722G>T	ENST00000324932.7	-	14	2049	c.1629C>A	c.(1627-1629)gtC>gtA	p.V543V	NUP98_ENST00000397004.4_Silent_p.V543V|NUP98_ENST00000355260.3_Silent_p.V543V|NUP98_ENST00000359171.4_Silent_p.V543V|NUP98_ENST00000397007.4_Silent_p.V560V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	560					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R542fs*26(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTTTGGCCGGACTCTAGTGG	0.483			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.V560V		.		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	NUP98-703	1	Deletion - Frameshift(1)	breast(1)	c.C1680A						.						177.0	185.0	182.0					11																	3752722		2201	4298	6499	SO:0001819	synonymous_variant	4928	exon14			TGGCCGGACTCTA	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1629C>A	11.37:g.3752722G>T		108	0		133	56	NM_005387	0	0	1	2	1	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.11|10.11	1.260861|1.260861	0.23051|0.23051	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000527104|ENST00000529379	.|.	.|.	.|.	5.47|5.47	-3.54|-3.54	0.04653|0.04653	.|.	.|.	.|.	.|.	.|.	T|T	0.37732|0.37732	0.1014|0.1014	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	-0.9850|-0.9850	4|4	.|.	.|.	.|.	.|.	1.0259|1.0259	0.01527|0.01527	0.4322:0.1604:0.2006:0.2068|0.4322:0.1604:0.2006:0.2068	.|.	.|.	.|.	.|.	T|Y	163|145	.|.	.|.	P|S	-|-	1|2	0|0	NUP98|NUP98	3709298|3709298	0.758000|0.758000	0.28405|0.28405	0.960000|0.960000	0.40013|0.40013	0.992000|0.992000	0.81027|0.81027	-0.121000|-0.121000	0.10643|0.10643	-0.652000|-0.652000	0.05408|0.05408	0.467000|0.467000	0.42956|0.42956	CCG|TCC	.		0.483	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
OR51E1	143503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	4674519	4674519	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:4674519G>T	ENST00000396952.5	+	2	1413	c.763G>T	c.(763-765)Gta>Tta	p.V255L	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATATTCTATGTACCTTTCAT	0.498																																					p.V255L		.											.	OR51E1-114	0			c.G763T						.						230.0	219.0	223.0					11																	4674519		2201	4298	6499	SO:0001583	missense	143503	exon2			TTCTATGTACCTT	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.763G>T	11.37:g.4674519G>T	ENSP00000380155:p.Val255Leu	107	0		147	41	NM_152430	0	0	0	0	0	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532110	0.64972	.	.	ENSG00000180785	ENST00000396952	T	0.67171	-0.25	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.125571	0.36066	N	0.002807	T	0.57592	0.2064	L	0.49640	1.575	0.80722	D	1	B	0.16166	0.016	B	0.16289	0.015	T	0.59311	-0.7478	10	0.72032	D	0.01	.	7.5219	0.27633	0.1725:0.0:0.8275:0.0	.	254	Q8TCB6	O51E1_HUMAN	L	255	ENSP00000380155:V255L	ENSP00000380155:V255L	V	+	1	0	OR51E1	4631095	0.074000	0.21230	1.000000	0.80357	0.919000	0.55068	1.196000	0.32198	2.709000	0.92574	0.655000	0.94253	GTA	.		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430	
OR52N2	390077	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	5842285	5842285	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:5842285C>T	ENST00000317037.2	+	1	742	c.720C>T	c.(718-720)ttC>ttT	p.F240F	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	240						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)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAAGCCTTCAGCACCTGCA	0.418																																					p.F240F		.											.	OR52N2-70	0			c.C720T						.						262.0	208.0	226.0					11																	5842285		2201	4296	6497	SO:0001819	synonymous_variant	390077	exon1			AGCCTTCAGCACC	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.720C>T	11.37:g.5842285C>T		205	1		294	101	NM_001005174	0	0	0	0	0	Q6IFF9	Silent	SNP	ENST00000317037.2	37	CCDS31399.1																																																																																			.		0.418	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174	
OR52E6	390078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5862980	5862980	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:5862980C>A	ENST00000329322.5	-	1	147	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.V54L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTGGATCACAAAGAAGATA	0.478																																					p.V50L		.											.	OR52E6-68	0			c.G148T						.						120.0	120.0	120.0					11																	5862980		2201	4296	6497	SO:0001583	missense	390078	exon1			GGATCACAAAGAA	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.148G>T	11.37:g.5862980C>A	ENSP00000328878:p.Val50Leu	157	0		257	61	NM_001005167	0	0	0	0	0	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229895	0.22542	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.03004	4.08;4.08	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.122640	0.36167	N	0.002741	T	0.03434	0.0099	L	0.36672	1.1	0.22989	N	0.998467	B	0.20164	0.042	B	0.23852	0.049	T	0.41963	-0.9479	10	0.20046	T	0.44	.	8.1382	0.31067	0.0:0.8862:0.0:0.1138	.	50	Q96RD3	O52E6_HUMAN	L	50;54	ENSP00000328878:V50L;ENSP00000369279:V54L	ENSP00000328878:V50L	V	-	1	0	OR52E6	5819556	0.000000	0.05858	0.738000	0.30950	0.631000	0.37964	-0.264000	0.08658	1.857000	0.53885	0.551000	0.68910	GTG	.		0.478	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	
OR52L1	338751	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6007764	6007764	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6007764G>T	ENST00000332249.4	-	1	451	c.397C>A	c.(397-399)Ctt>Att	p.L133I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	133						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(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCCACAAGTACCCCTGAC	0.532																																					p.L133I	Melanoma(121;653 1666 10547 22796 51255)	.											.	OR52L1-91	0			c.C397A						.						44.0	45.0	44.0					11																	6007764		2100	4234	6334	SO:0001583	missense	338751	exon1			CCACAAGTACCCC	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.397C>A	11.37:g.6007764G>T	ENSP00000330338:p.Leu133Ile	154	0		242	75	NM_001005173	0	0	0	0	0	B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577032	0.45902	.	.	ENSG00000183313	ENST00000332249	T	0.06371	3.31	3.5	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36134	N	0.002771	T	0.26048	0.0635	M	0.89968	3.075	0.24497	N	0.994274	D	0.69078	0.997	D	0.72625	0.978	T	0.02301	-1.1180	10	0.66056	D	0.02	.	9.1727	0.37093	0.1155:0.0:0.8845:0.0	.	133	Q8NGH7	O52L1_HUMAN	I	133	ENSP00000330338:L133I	ENSP00000330338:L133I	L	-	1	0	OR52L1	5964340	0.877000	0.30153	0.988000	0.46212	0.898000	0.52572	1.249000	0.32839	1.662000	0.50781	0.313000	0.20887	CTT	.		0.532	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173	
SMPD1	6609	hgsc.bcm.edu	37	11	6413009	6413009	+	Silent	SNP	A	A	C	rs2682091	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6413009A>C	ENST00000342245.4	+	2	882	c.714A>C	c.(712-714)gcA>gcC	p.A238A	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.A238A|SMPD1_ENST00000299397.3_Silent_p.A238A|SMPD1_ENST00000527275.1_Silent_p.A237A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	236					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TGCCGCCCGCATCCCGGCCAG	0.667																																					p.A238A		.											.	SMPD1-90	0			c.A714C						.						44.0	53.0	50.0					11																	6413009		2201	4296	6497	SO:0001819	synonymous_variant	6609	exon2			GCCCGCATCCCGG	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.714A>C	11.37:g.6413009A>C		11	0		62	5	NM_000543	0	0	15	16	1	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	CCDS44531.1																																																																																			A|0.960;G|0.040		0.667	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543	
DNHD1	144132	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	6554962	6554962	+	Missense_Mutation	SNP	G	G	C	rs375312511		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:6554962G>C	ENST00000527990.2	+	12	2557	c.2557G>C	c.(2557-2559)Gta>Cta	p.V853L	DNHD1_ENST00000254579.6_Missense_Mutation_p.V853L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	853					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AATGGAATACGTACGGGCACT	0.527																																					p.V853L		.											.	DNHD1-24	0			c.G2557C						.						99.0	88.0	91.0					11																	6554962		692	1591	2283	SO:0001583	missense	144132	exon14			GAATACGTACGGG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.2557G>C	11.37:g.6554962G>C	ENSP00000436180:p.Val853Leu	245	1		329	122	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.363045	0.24684	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.33865	1.39;1.39	5.92	-2.6	0.06190	.	.	.	.	.	T	0.18002	0.0432	N	0.19112	0.55	0.09310	N	0.999998	B	0.19706	0.038	B	0.18561	0.022	T	0.31641	-0.9936	9	0.15499	T	0.54	.	6.386	0.21561	0.304:0.0:0.5341:0.1619	.	853	Q96M86	DNHD1_HUMAN	L	853;853;119	ENSP00000254579:V853L;ENSP00000436180:V853L	ENSP00000254579:V853L	V	+	1	0	DNHD1	6511538	0.016000	0.18221	0.422000	0.26621	0.185000	0.23345	0.039000	0.13884	-0.320000	0.08640	-0.290000	0.09829	GTA	.		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
CALCA	796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	14991506	14991506	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:14991506G>C	ENST00000486207.1	-	2	210	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q68E|CALCA_ENST00000331587.4_Missense_Mutation_p.Q68E|CALCA_ENST00000361010.3_Missense_Mutation_p.Q68E|CALCA_ENST00000359642.3_Missense_Mutation_p.Q68E			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	68					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TCTTGCTCCTGCTCCAGCTCA	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q68E		.											.	CALCA-514	0			c.C202G						.						56.0	58.0	58.0					11																	14991506		2200	4294	6494	SO:0001583	missense	796	exon3			GCTCCTGCTCCAG	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.202C>G	11.37:g.14991506G>C	ENSP00000417833:p.Gln68Glu	252	0	699	346	105	NM_001033953	0	0	0	0	0	Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	7.510	0.654481	0.14580	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	1.77	0.751	0.18392	.	0.125955	0.53938	D	0.000042	T	0.35537	0.0935	M	0.86953	2.85	0.31581	N	0.6551	P;B	0.42757	0.789;0.029	P;B	0.46208	0.507;0.058	T	0.43718	-0.9374	10	0.62326	D	0.03	-11.1442	5.7691	0.18243	0.0:0.3692:0.6308:0.0	.	68;68	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	E	68	ENSP00000417833:Q68E;ENSP00000354286:Q68E;ENSP00000352663:Q68E;ENSP00000331746:Q68E;ENSP00000379657:Q68E	ENSP00000331746:Q68E	Q	-	1	0	CALCA	14948082	1.000000	0.71417	0.009000	0.14445	0.015000	0.08874	4.684000	0.61686	0.263000	0.21812	0.655000	0.94253	CAG	.		0.637	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	
LUZP2	338645	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	25071584	25071584	+	Splice_Site	DEL	C	C	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:25071584delC	ENST00000336930.6	+	10	832	c.766delC	c.(766-768)cct>ct	p.P256fs	LUZP2_ENST00000533227.1_Splice_Site_p.P170fs			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	256						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTCTTTTAAGCCTCAACAAAG	0.353																																					p.P256fs		.											.	LUZP2-92	0			c.766delC						.						79.0	78.0	78.0					11																	25071584		2203	4300	6503	SO:0001630	splice_region_variant	338645	exon10			TTTAAGCCTCAAC	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.766-1C>-	11.37:g.25071584delC		49	0		52	21	NM_001009909	0	0	0	0	0	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Frame_Shift_Del	DEL	ENST00000336930.6	37	CCDS31446.1																																																																																			.		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	Frame_Shift_Del
FIBIN	387758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	27016195	27016195	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:27016195G>T	ENST00000318627.2	+	1	568	c.122G>T	c.(121-123)gGg>gTg	p.G41V		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	41						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GTGCCCGATGGGGACTATGAG	0.597																																					p.G41V		.											.	FIBIN-68	0			c.G122T						.						70.0	67.0	68.0					11																	27016195		2203	4299	6502	SO:0001583	missense	387758	exon1			CCGATGGGGACTA	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.122G>T	11.37:g.27016195G>T	ENSP00000321962:p.Gly41Val	92	0		165	66	NM_203371	0	0	0	0	0		Missense_Mutation	SNP	ENST00000318627.2	37	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743948	0.89663	.	.	ENSG00000176971	ENST00000318627	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73920	-0.3830	9	0.87932	D	0	-30.964	19.2077	0.93739	0.0:0.0:1.0:0.0	.	41	Q8TAL6	FIBIN_HUMAN	V	41	.	ENSP00000321962:G41V	G	+	2	0	FIBIN	26972771	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.164000	0.94755	2.890000	0.99128	0.650000	0.86243	GGG	.		0.597	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371	
HIPK3	10114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	33363182	33363182	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:33363182G>T	ENST00000303296.4	+	8	2152	c.1847G>T	c.(1846-1848)tGt>tTt	p.C616F	HIPK3_ENST00000379016.3_Missense_Mutation_p.C616F|HIPK3_ENST00000456517.1_Missense_Mutation_p.C616F|HIPK3_ENST00000525975.1_Missense_Mutation_p.C616F	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	616					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGTTTGGTTGTGGTGATGCT	0.393																																					p.C616F		.											.	HIPK3-336	0			c.G1847T						.						249.0	219.0	229.0					11																	33363182		2202	4298	6500	SO:0001583	missense	10114	exon8			TTGGTTGTGGTGA	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1847G>T	11.37:g.33363182G>T	ENSP00000304226:p.Cys616Phe	87	0		120	40	NM_001048200	0	0	1	1	0	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295283	0.81025	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.69;0.66;0.69;0.69	5.14	5.14	0.70334	.	0.097896	0.45606	D	0.000360	T	0.62454	0.2429	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.64042	0.921;0.921	T	0.63175	-0.6696	10	0.62326	D	0.03	.	19.5639	0.95384	0.0:0.0:1.0:0.0	.	616;616	Q9H422-2;Q9H422	.;HIPK3_HUMAN	F	616	ENSP00000431710:C616F;ENSP00000304226:C616F;ENSP00000368301:C616F;ENSP00000398241:C616F	ENSP00000304226:C616F	C	+	2	0	HIPK3	33319758	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.865000	0.92300	2.786000	0.95864	0.644000	0.83932	TGT	.		0.393	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
PAMR1	25891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	35547114	35547114	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:35547114G>T	ENST00000378880.2	-	1	465	c.20C>A	c.(19-21)aCg>aAg	p.T7K	PAMR1_ENST00000532848.1_Intron|PAMR1_ENST00000378878.3_Missense_Mutation_p.T7K|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.T7K	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	7						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CCCCAACTGCGTCCAGCAACC	0.632																																					p.T7K		.											.	PAMR1-70	0			c.C20A						.						100.0	80.0	87.0					11																	35547114		2202	4298	6500	SO:0001583	missense	25891	exon1			AACTGCGTCCAGC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.20C>A	11.37:g.35547114G>T	ENSP00000368158:p.Thr7Lys	72	0		112	26	NM_001001991	0	0	0	0	0	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	7.427	0.637859	0.14386	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000529303	D;D;D;D	0.90385	-2.24;-2.26;-2.45;-2.66	4.95	3.05	0.35203	.	2.012940	0.02297	N	0.070828	D	0.82697	0.5093	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.71504	-0.4573	10	0.87932	D	0	.	7.6864	0.28542	0.0832:0.0:0.7534:0.1634	.	7;7;7	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	K	7	ENSP00000278360:T7K;ENSP00000368158:T7K;ENSP00000368156:T7K;ENSP00000433024:T7K	ENSP00000278360:T7K	T	-	2	0	PAMR1	35503690	0.804000	0.28969	0.668000	0.29813	0.129000	0.20672	3.224000	0.51238	1.051000	0.40369	0.609000	0.83330	ACG	.		0.632	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
LRRC4C	57689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	40136500	40136500	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:40136500G>A	ENST00000278198.2	-	2	3306	c.1343C>T	c.(1342-1344)aCt>aTt	p.T448I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T448I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T448I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T448I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	448					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAAGGAGTAGTGGTTGCTGC	0.468																																					p.T448I		.											.	LRRC4C-521	0			c.C1343T						.						165.0	155.0	158.0					11																	40136500		2203	4300	6503	SO:0001583	missense	57689	exon7			GGAGTAGTGGTTG	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1343C>T	11.37:g.40136500G>A	ENSP00000278198:p.Thr448Ile	171	0		227	77	NM_001258419	0	0	0	0	0	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090270	0.20390	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.84	5.84	0.93424	.	0.109676	0.64402	D	0.000012	T	0.44912	0.1316	N	0.22421	0.69	0.33297	D	0.564254	B	0.06786	0.001	B	0.11329	0.006	T	0.51442	-0.8705	10	0.35671	T	0.21	.	14.6072	0.68489	0.0:0.0:0.8453:0.1547	.	448	Q9HCJ2	LRC4C_HUMAN	I	448	ENSP00000278198:T448I;ENSP00000436976:T448I;ENSP00000437132:T448I;ENSP00000434761:T448I	ENSP00000278198:T448I	T	-	2	0	LRRC4C	40093076	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.810000	0.55613	2.760000	0.94817	0.655000	0.94253	ACT	.		0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
OR4P4	81300	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55405833	55405833	+	5'Flank	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:55405833C>A	ENST00000314612.2	+	0	0					NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4							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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACACTGGACCATGGAAAAAA	0.303																																					.		.											.	OR4P4-68	0			.						.						102.0	102.0	102.0					11																	55405833		2183	4020	6203	SO:0001631	upstream_gene_variant	81300	.			CTGGACCATGGAA	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300		11.37:g.55405833C>A	Exception_encountered	30	0		19	11	.	0	0	0	0	0		Splice_Site	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																			.		0.303	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR10W1	81341	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	58035112	58035112	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:58035112C>A	ENST00000395079.2	-	1	620	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGGTGTTGGCCAGGATATGGG	0.512																																					p.L73L		.											.	OR10W1-69	0			c.G219T						.						94.0	84.0	88.0					11																	58035112		2201	4295	6496	SO:0001819	synonymous_variant	81341	exon1			GTTGGCCAGGATA	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.219G>T	11.37:g.58035112C>A		100	1		130	49	NM_207374	0	0	0	0	0	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	CCDS7968.1																																																																																			.		0.512	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374	
OR5B12	390191	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	58206694	58206694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:58206694C>A	ENST00000302572.2	-	1	952	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATATGAATCCTATAGAGGCC	0.373																																					p.G311X		.											.	OR5B12-68	0			c.G931T						.						38.0	38.0	38.0					11																	58206694		2201	4295	6496	SO:0001587	stop_gained	390191	exon1			TGAATCCTATAGA	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.931G>T	11.37:g.58206694C>A	ENSP00000306657:p.Gly311*	33	0		25	10	NM_001004733	0	0	0	0	0	B2RNL2|Q6IEV5	Nonsense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120394	0.06838	.	.	ENSG00000172362	ENST00000302572	.	.	.	4.29	-1.49	0.08718	.	0.435860	0.16973	N	0.192027	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-23.8452	3.8429	0.08922	0.2266:0.5205:0.1094:0.1435	.	.	.	.	X	311	.	ENSP00000306657:G311X	G	-	1	0	OR5B12	57963270	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.190000	0.03058	-0.706000	0.05028	-2.157000	0.00329	GGA	.		0.373	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
TMEM138	51524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	61133533	61133533	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:61133533G>A	ENST00000278826.6	+	3	704	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	TMEM138_ENST00000542946.1_Missense_Mutation_p.V49I|TMEM138_ENST00000540194.1_3'UTR|TMEM138_ENST00000381787.2_5'UTR	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	49					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGATATTGCAGTCCTCTTCAA	0.463																																					p.V49I		.											.	TMEM138-90	0			c.G145A						.						283.0	258.0	266.0					11																	61133533		2203	4299	6502	SO:0001583	missense	51524	exon3			ATTGCAGTCCTCT	AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.145G>A	11.37:g.61133533G>A	ENSP00000278826:p.Val49Ile	107	0		152	47	NM_016464	0	0	25	55	30	A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	ENST00000278826.6	37	CCDS8005.1	.	.	.	.	.	.	.	.	.	.	G	7.017	0.557955	0.13436	.	.	ENSG00000149483	ENST00000278826;ENST00000542946	D;D	0.86097	-2.07;-2.07	5.96	-10.7	0.00240	.	0.420133	0.26824	N	0.022319	T	0.38772	0.1053	N	0.00044	-2.455	0.43808	D	0.996365	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.53641	-0.8410	10	0.02654	T	1	-26.28	16.302	0.82825	0.4641:0.0:0.5359:0.0	.	49;49;49	B4E044;Q9NPI0-2;Q9NPI0	.;.;TM138_HUMAN	I	49	ENSP00000278826:V49I;ENSP00000445792:V49I	ENSP00000278826:V49I	V	+	1	0	TMEM138	60890109	0.126000	0.22350	0.000000	0.03702	0.965000	0.64279	0.809000	0.27168	-2.386000	0.00590	-0.157000	0.13467	GTC	.		0.463	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464	
SCGB2A1	4246	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	61978049	61978049	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:61978049C>G	ENST00000244930.4	+	2	284	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	74					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						ACATAGAACTCTGAAAAACTT	0.418																																					p.L74V		.											.	SCGB2A1-90	0			c.C220G						.						99.0	97.0	98.0					11																	61978049		2202	4299	6501	SO:0001583	missense	4246	exon2			AGAACTCTGAAAA	AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.220C>G	11.37:g.61978049C>G	ENSP00000244930:p.Leu74Val	59	0		104	39	NM_002407	0	0	0	0	0		Missense_Mutation	SNP	ENST00000244930.4	37	CCDS8016.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781855	0.31502	.	.	ENSG00000124939	ENST00000244930	T	0.44881	0.91	3.68	-0.552	0.11818	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	P	0.46395	0.877	P	0.44422	0.449	T	0.17501	-1.0367	8	0.49607	T	0.09	.	3.7688	0.08633	0.0:0.4313:0.2206:0.3481	.	74	O75556	SG2A1_HUMAN	V	74	ENSP00000244930:L74V	ENSP00000244930:L74V	L	+	1	2	SCGB2A1	61734625	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.141000	0.10327	-0.087000	0.12528	0.650000	0.86243	CTG	.		0.418	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394857.1	NM_002407	
MUS81	80198	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	65631183	65631183	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:65631183A>G	ENST00000308110.4	+	9	1301	c.952A>G	c.(952-954)Aga>Gga	p.R318G	MUS81_ENST00000533035.1_Missense_Mutation_p.R243G|CFL1_ENST00000534769.1_5'Flank|EFEMP2_ENST00000532648.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	318	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GACCAATCCTAGAGACCCAGG	0.642								Homologous recombination																													p.R318G		.											.	MUS81-227	0			c.A952G						.						60.0	65.0	64.0					11																	65631183		2201	4296	6497	SO:0001583	missense	80198	exon9			AATCCTAGAGACC		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.952A>G	11.37:g.65631183A>G	ENSP00000307853:p.Arg318Gly	208	1		340	114	NM_025128	0	0	1	4	3	Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.667|7.667	0.686107|0.686107	0.14973|0.14973	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.16196|.	2.36;2.59|.	5.53|5.53	1.79|1.79	0.24919|0.24919	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);|.	0.404650|.	0.27206|.	N|.	0.020423|.	T|.	0.22437|.	0.0541|.	N|N	0.20845|0.20845	0.615|0.615	0.24544|0.24544	N|N	0.994058|0.994058	B|.	0.21225|.	0.053|.	B|.	0.28465|.	0.09|.	T|.	0.25152|.	-1.0140|.	10|.	0.23302|.	T|.	0.38|.	-0.9767|-0.9767	6.2159|6.2159	0.20656|0.20656	0.525:0.3895:0.0855:0.0|0.525:0.3895:0.0855:0.0	.|.	318|.	Q96NY9|.	MUS81_HUMAN|.	G|W	243;318;318|242	ENSP00000432287:R243G;ENSP00000307853:R318G|.	ENSP00000307853:R318G|.	R|X	+|+	1|2	2|0	MUS81|MUS81	65387759|65387759	0.491000|0.491000	0.26019|0.26019	0.948000|0.948000	0.38648|0.38648	0.023000|0.023000	0.10783|0.10783	0.235000|0.235000	0.17948|0.17948	0.117000|0.117000	0.18138|0.18138	0.533000|0.533000	0.62120|0.62120	AGA|TAG	.		0.642	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128	
XRRA1	143570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	74563036	74563036	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:74563036C>T	ENST00000340360.6	-	13	1569	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.R138Q|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.R413L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CACTATACCTCGTGTATGGGC	0.547																																					p.R413Q		.											.	XRRA1-68	1	Substitution - Missense(1)	prostate(1)	c.G1238A						.						116.0	115.0	115.0					11																	74563036		1996	4165	6161	SO:0001583	missense	143570	exon13			ATACCTCGTGTAT	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1238G>A	11.37:g.74563036C>T	ENSP00000339918:p.Arg413Gln	104	0		164	68	NM_182969	0	0	0	0	0		Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893170	0.91889	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418	T;T	0.52526	0.66;1.42	6.07	3.9	0.45041	.	.	.	.	.	T	0.45836	0.1362	M	0.63428	1.95	0.80722	D	1	D;P;P	0.58970	0.984;0.576;0.777	P;B;B	0.44860	0.462;0.113;0.159	T	0.45804	-0.9236	9	0.42905	T	0.14	-16.5361	9.5643	0.39389	0.0:0.8189:0.0:0.1811	.	413;357;399	Q6P2D8;Q6P2D8-4;Q6P2D8-3	XRRA1_HUMAN;.;.	Q	413;138;399;357	ENSP00000339918:R413Q;ENSP00000319303:R138Q	ENSP00000319303:R138Q	R	-	2	0	XRRA1	74240684	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.431000	0.44775	1.582000	0.49881	0.585000	0.79938	CGA	.		0.547	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969	
FAT3	120114	ucsc.edu;bcgsc.ca	37	11	92534976	92534976	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:92534976G>C	ENST00000298047.6	+	9	8814	c.8797G>C	c.(8797-8799)Gtg>Ctg	p.V2933L	FAT3_ENST00000525166.1_Missense_Mutation_p.V2783L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2933L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2933	Cadherin 27. {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)				CCGAGGGAATGTGAAGGAGAG	0.542										TCGA Ovarian(4;0.039)																											p.V2933L		.											.	FAT3-73	0			c.G8797C						.						91.0	92.0	92.0					11																	92534976		2021	4185	6206	SO:0001583	missense	120114	exon9			GGGAATGTGAAGG	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.8797G>C	11.37:g.92534976G>C	ENSP00000298047:p.Val2933Leu	169	2		236	77	NM_001008781	0	0	0	0	0	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.660345	0.88154	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	6.04	6.04	0.98038	.	.	.	.	.	T	0.71626	0.3362	M	0.76170	2.325	0.80722	D	1	D	0.62365	0.991	P	0.59643	0.861	T	0.70781	-0.4779	9	0.52906	T	0.07	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2933	Q8TDW7-3	.	L	2933;2933;2783	ENSP00000298047:V2933L;ENSP00000387040:V2933L;ENSP00000432586:V2783L	ENSP00000298047:V2933L	V	+	1	0	FAT3	92174624	1.000000	0.71417	0.980000	0.43619	0.838000	0.47535	9.787000	0.99055	2.873000	0.98535	0.563000	0.77884	GTG	.		0.542	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
SLC36A4	120103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	92881943	92881943	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:92881943G>A	ENST00000326402.4	-	11	1405	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	SLC36A4_ENST00000529184.1_Silent_p.S290S	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	425					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGCCAATGTGCTGCTGCTCA	0.358																																					p.S425S		.											.	SLC36A4-93	0			c.C1275T						.						62.0	67.0	65.0					11																	92881943		2200	4298	6498	SO:0001819	synonymous_variant	120103	exon11			CAATGTGCTGCTG	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1275C>T	11.37:g.92881943G>A		168	0		201	81	NM_152313	0	0	22	33	11	Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	CCDS8291.1																																																																																			.		0.358	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
KIAA1731	85459	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	93457488	93457488	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:93457488G>C	ENST00000325212.6	+	22	6427	c.6265G>C	c.(6265-6267)Gac>Cac	p.D2089H	SCARNA9_ENST00000364329.1_RNA|SCARNA9_ENST00000530422.1_RNA|KIAA1731_ENST00000344196.4_Missense_Mutation_p.D269H|KIAA1731_ENST00000531700.1_Missense_Mutation_p.D269H|KIAA1731_ENST00000411936.1_Missense_Mutation_p.D2089H|SCARNA9_ENST00000362805.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731	2089						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCAGATTTTGACTTATCATC	0.348																																					p.D2089H		.											.	KIAA1731-22	0			c.G6265C						.						226.0	187.0	198.0					11																	93457488		692	1591	2283	SO:0001583	missense	85459	exon22			GATTTTGACTTAT	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.6265G>C	11.37:g.93457488G>C	ENSP00000316681:p.Asp2089His	49	0		66	16	NM_033395	0	0	4	6	2	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	37	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817353	0.70912	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.16597	2.33;2.33	5.57	4.65	0.58169	.	.	.	.	.	T	0.31482	0.0798	L	0.48642	1.525	0.31649	N	0.646992	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.68943	0.943;0.961;0.961	T	0.13899	-1.0492	9	0.87932	D	0	.	9.6889	0.40116	0.0928:0.0:0.9072:0.0	.	2089;2089;269	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	H	2089;2089;269;269;101	ENSP00000316681:D2089H;ENSP00000406505:D2089H	ENSP00000316681:D2089H	D	+	1	0	KIAA1731	93097136	0.998000	0.40836	0.959000	0.39883	0.981000	0.71138	2.281000	0.43452	2.785000	0.95823	0.655000	0.94253	GAC	.		0.348	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1	NM_033395	
VSTM5	387804	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	93554296	93554296	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:93554296G>T	ENST00000409977.1	-	2	313	c.285C>A	c.(283-285)gaC>gaA	p.D95E		NM_001144871.1	NP_001138343.1	A8MXK1	VSTM5_HUMAN	V-set and transmembrane domain containing 5	95	Ig-like C2-type.					integral component of membrane (GO:0016021)				endometrium(1)	1						TGCAGACTCTGTCCTTGTGGC	0.552																																					p.D95E		.											.	.	0			c.C285A						.						332.0	274.0	292.0					11																	93554296		692	1591	2283	SO:0001583	missense	387804	exon2			GACTCTGTCCTTG		CCDS44709.1	11q21	2013-01-11	2011-07-01	2011-07-01	ENSG00000214376	ENSG00000214376		"""Immunoglobulin superfamily / V-set domain containing"""	34443	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 90"""	C11orf90		16554811	Standard	NM_001144871		Approved	LOC387804	uc010ruc.1	A8MXK1	OTTHUMG00000154159	ENST00000409977.1:c.285C>A	11.37:g.93554296G>T	ENSP00000386607:p.Asp95Glu	265	0		362	125	NM_001144871	0	0	0	0	0		Missense_Mutation	SNP	ENST00000409977.1	37	CCDS44709.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633695	0.67130	.	.	ENSG00000214376	ENST00000409977	T	0.64618	-0.11	5.66	3.78	0.43462	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.181406	0.47852	U	0.000212	T	0.57344	0.2047	L	0.59436	1.845	0.32214	N	0.5762	P	0.36354	0.549	B	0.35182	0.197	T	0.66118	-0.6003	10	0.48119	T	0.1	1.3963	12.8102	0.57635	0.1345:0.0:0.8655:0.0	.	95	A8MXK1	VSTM5_HUMAN	E	95	ENSP00000386607:D95E	ENSP00000386607:D95E	D	-	3	2	VSTM5	93193944	1.000000	0.71417	0.699000	0.30290	0.931000	0.56810	3.328000	0.52052	0.841000	0.35020	0.655000	0.94253	GAC	.		0.552	VSTM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334162.1	NM_001144871	
AASDHPPT	60496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	105950341	105950341	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:105950341C>A	ENST00000278618.4	+	2	553	c.331C>A	c.(331-333)Cat>Aat	p.H111N	KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000531837.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	111	Coenzyme A binding.				macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TAACATCTCTCATCAAGGAGA	0.398																																					p.H111N		.											.	AASDHPPT-90	0			c.C331A						.						116.0	115.0	115.0					11																	105950341		2201	4299	6500	SO:0001583	missense	60496	exon2			ATCTCTCATCAAG	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.331C>A	11.37:g.105950341C>A	ENSP00000278618:p.His111Asn	118	0		134	44	NM_015423	0	0	12	17	5	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079914	0.94050	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.91	5.91	0.95273	4&apos (1);-phosphopantetheinyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87418	0.2380	9	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	111	Q9NRN7	ADPPT_HUMAN	N	46;46;111	.	ENSP00000278618:H111N	H	+	1	0	AASDHPPT	105455551	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.725000	0.84808	2.793000	0.96121	0.655000	0.94253	CAT	.		0.398	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	
C11orf87	399947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	109294764	109294764	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:109294764C>G	ENST00000327419.6	+	2	808	c.405C>G	c.(403-405)ccC>ccG	p.P135P	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	135						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGAGGCAGCCCCGGGACTCTC	0.721																																					p.P135P		.											.	C11orf87-92	0			c.C405G						.						48.0	56.0	53.0					11																	109294764		2200	4298	6498	SO:0001819	synonymous_variant	399947	exon2			GCAGCCCCGGGAC	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.405C>G	11.37:g.109294764C>G		18	0		67	31	NM_207645	0	0	0	0	0	B4E169	Silent	SNP	ENST00000327419.6	37	CCDS31672.1																																																																																			.		0.721	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645	
CBL	867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	119149280	119149280	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119149280G>T	ENST00000264033.4	+	9	1664	c.1288G>T	c.(1288-1290)Gtg>Ttg	p.V430L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	430	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G397_I429del(1)|p.I429_F434del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGAACCCATCGTGGTAGATCC	0.478			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.V430L		.		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	CBL-4020	3	Deletion - In frame(3)	haematopoietic_and_lymphoid_tissue(3)	c.G1288T						.						123.0	118.0	120.0					11																	119149280		2199	4295	6494	SO:0001583	missense	867	exon9	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	CCCATCGTGGTAG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1288G>T	11.37:g.119149280G>T	ENSP00000264033:p.Val430Leu	197	0		206	58	NM_005188	0	0	0	1	1	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849212	0.71603	.	.	ENSG00000110395	ENST00000264033	D	0.94457	-3.43	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.71036	2.16	0.80722	D	1	P	0.42908	0.793	B	0.40444	0.329	D	0.94404	0.7625	10	0.62326	D	0.03	-28.1373	20.422	0.99049	0.0:0.0:1.0:0.0	.	430	P22681	CBL_HUMAN	L	430	ENSP00000264033:V430L	ENSP00000264033:V430L	V	+	1	0	CBL	118654490	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.648000	0.83479	2.832000	0.97577	0.655000	0.94253	GTG	.		0.478	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
PVRL1	5818	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	119510594	119510594	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119510594G>T	ENST00000341398.2	-	6	1131	c.1132C>A	c.(1132-1134)Ccg>Acg	p.P378T	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCCGTCTCCGGTGGGCTCTTC	0.627																																					p.P378T		.											.	PVRL1-90	0			c.C1132A						.						39.0	41.0	41.0					11																	119510594		2199	4295	6494	SO:0001583	missense	5818	exon6			TCTCCGGTGGGCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1132C>A	11.37:g.119510594G>T	ENSP00000344974:p.Pro378Thr	97	0		119	35	NM_203285	0	0	0	0	0	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674785	0.14841	.	.	ENSG00000110400	ENST00000341398	T	0.73469	-0.75	3.82	1.85	0.25348	.	.	.	.	.	T	0.42337	0.1198	N	0.02539	-0.55	0.09310	N	1	B	0.21905	0.062	B	0.18263	0.021	T	0.29549	-1.0008	9	0.13470	T	0.59	.	4.122	0.10109	0.1287:0.0:0.642:0.2293	.	378	Q15223-2	.	T	378	ENSP00000344974:P378T	ENSP00000344974:P378T	P	-	1	0	PVRL1	119015804	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.559000	0.23485	0.353000	0.24079	0.462000	0.41574	CCG	.		0.627	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1		
PVRL1	5818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	119548456	119548456	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:119548456C>A	ENST00000264025.3	-	3	1072	c.542G>T	c.(541-543)aGt>aTt	p.S181I	PVRL1_ENST00000340882.2_Missense_Mutation_p.S181I|PVRL1_ENST00000341398.2_Missense_Mutation_p.S181I|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	181	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGATACCACACTGGGAGGCTT	0.582																																					p.S181I		.											.	PVRL1-90	0			c.G542T						.						102.0	90.0	94.0					11																	119548456		2199	4295	6494	SO:0001583	missense	5818	exon3			ACCACACTGGGAG	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.542G>T	11.37:g.119548456C>A	ENSP00000264025:p.Ser181Ile	246	0		280	98	NM_002855	0	0	1	3	2	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.646856	0.87958	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.75589	-0.95;-0.95;-0.95	5.31	5.31	0.75309	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.036018	0.85682	D	0.000000	D	0.85097	0.5619	M	0.66939	2.045	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.997	D	0.84626	0.0687	9	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	181;181;181	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	I	181	ENSP00000344974:S181I;ENSP00000264025:S181I;ENSP00000345289:S181I	.	S	-	2	0	PVRL1	119053666	1.000000	0.71417	0.990000	0.47175	0.941000	0.58515	7.481000	0.81124	2.509000	0.84616	0.556000	0.70494	AGT	.		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
TMEM136	219902	hgsc.bcm.edu;bcgsc.ca	37	11	120198134	120198134	+	Intron	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:120198134G>T	ENST00000375095.2	+	2	240				TMEM136_ENST00000529187.1_Missense_Mutation_p.W17L|TMEM136_ENST00000314475.2_Missense_Mutation_p.W17L|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																					p.W17L		.											.	TMEM136-91	1	Substitution - Nonsense(1)	ovary(1)	c.G50T						.						178.0	165.0	169.0					11																	120198134		2203	4299	6502	SO:0001627	intron_variant	219902	exon2			GGTTTTGGTCTTT	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>T	11.37:g.120198134G>T		77	0		73	4	NM_001198670	0	0	0	0	0	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787243	0.31593	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	7	0.27082	T	0.32	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	17;17	Q6ZRR5-3;Q6ZRR5-4	.;.	L	17	.	ENSP00000312672:W17L	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG	.		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926	
TMEM225	338661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	123754008	123754008	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:123754008A>G	ENST00000375026.2	-	4	731	c.515T>C	c.(514-516)cTg>cCg	p.L172P		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	172					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATGGATGTTCAGGCAGGTACA	0.453																																					p.L172P		.											.	TMEM225-93	0			c.T515C						.						97.0	91.0	93.0					11																	123754008		2202	4299	6501	SO:0001583	missense	338661	exon4			ATGTTCAGGCAGG	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.515T>C	11.37:g.123754008A>G	ENSP00000364166:p.Leu172Pro	91	0		111	35	NM_001013743	0	0	0	0	0		Missense_Mutation	SNP	ENST00000375026.2	37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166499	0.38217	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.36878	1.27;1.23	3.89	0.0179	0.14114	.	0.669254	0.12441	N	0.468690	T	0.36054	0.0953	L	0.29908	0.895	0.09310	N	0.999996	D	0.69078	0.997	P	0.60949	0.881	T	0.16867	-1.0388	10	0.87932	D	0	-5.9391	3.0513	0.06169	0.515:0.0:0.108:0.3771	.	172	Q6GV28	TM225_HUMAN	P	172;122	ENSP00000364166:L172P;ENSP00000431282:L122P	ENSP00000364166:L172P	L	-	2	0	TMEM225	123259218	0.002000	0.14202	0.000000	0.03702	0.137000	0.21094	1.073000	0.30691	-0.014000	0.14175	0.533000	0.62120	CTG	.		0.453	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743	
NCAPD2	9918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6639952	6639952	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:6639952G>A	ENST00000315579.5	+	30	4732	c.3933G>A	c.(3931-3933)caG>caA	p.Q1311Q	NCAPD2_ENST00000545962.1_Silent_p.Q1266Q|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1311					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGGTAGCCAGAGAGCGCCAT	0.532																																					p.Q1311Q		.											.	NCAPD2-660	0			c.G3933A						.						64.0	66.0	65.0					12																	6639952		2203	4300	6503	SO:0001819	synonymous_variant	9918	exon30			TAGCCAGAGAGCG	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3933G>A	12.37:g.6639952G>A		88	0		112	48	NM_014865	0	0	60	137	77	D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	CCDS8548.1																																																																																			.		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
FAM90A1	55138	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	8375115	8375115	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:8375115G>T	ENST00000538603.1	-	7	1256	c.698C>A	c.(697-699)cCt>cAt	p.P233H	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P233H	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	233							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCACCCGCAGGGCTGCTGTG	0.657																																					p.P233H		.											.	FAM90A1-91	0			c.C698A						.						39.0	63.0	55.0					12																	8375115		2073	4219	6292	SO:0001583	missense	55138	exon7			CCCGCAGGGCTGC	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.698C>A	12.37:g.8375115G>T	ENSP00000445418:p.Pro233His	71	0		126	25	NM_018088	0	0	0	0	0	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	7.554	0.663363	0.14710	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.12465	2.68;2.68	0.722	-0.369	0.12534	.	.	.	.	.	T	0.11580	0.0282	L	0.47190	1.495	0.09310	N	1	B	0.19073	0.033	B	0.20577	0.03	T	0.31806	-0.9930	8	0.66056	D	0.02	-1.2266	.	.	.	.	233	Q86YD7	F90A1_HUMAN	H	233	ENSP00000307798:P233H;ENSP00000445418:P233H	ENSP00000307798:P233H	P	-	2	0	FAM90A1	8266382	0.005000	0.15991	0.000000	0.03702	0.030000	0.12068	0.308000	0.19314	-0.155000	0.11098	0.194000	0.17425	CCT	.		0.657	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	
GPR19	2842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	12814767	12814767	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:12814767A>T	ENST00000540510.1	-	2	808	c.616T>A	c.(616-618)Tgg>Agg	p.W206R	GPR19_ENST00000332427.2_Missense_Mutation_p.W206R			P46093	GPR4_HUMAN	G protein-coupled receptor 19	164					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)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TGACTGTCCCAGTTGGAGCCA	0.488																																					p.W206R		.											.	GPR19-91	0			c.T616A						.						72.0	67.0	69.0					12																	12814767		2203	4300	6503	SO:0001583	missense	2842	exon4			TGTCCCAGTTGGA		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.616T>A	12.37:g.12814767A>T	ENSP00000441832:p.Trp206Arg	93	0		82	36	NM_006143	0	0	0	0	0	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	A	2.145	-0.395857	0.04899	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.70631	-0.5;-0.5	5.49	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.656693	0.14294	N	0.328772	T	0.43567	0.1253	N	0.03608	-0.345	0.29074	N	0.883083	B	0.17667	0.023	B	0.15052	0.012	T	0.33624	-0.9861	10	0.18276	T	0.48	-6.3191	7.1802	0.25768	0.7037:0.1513:0.0:0.145	.	206	Q15760	GPR19_HUMAN	R	206	ENSP00000441832:W206R;ENSP00000333744:W206R	ENSP00000333744:W206R	W	-	1	0	GPR19	12706034	0.579000	0.26725	0.965000	0.40720	0.420000	0.31355	1.901000	0.39838	0.880000	0.35969	0.459000	0.35465	TGG	.		0.488	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143	
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	18435177	18435177	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:18435177C>T	ENST00000266497.5	+	1	200	c.162C>T	c.(160-162)taC>taT	p.Y54Y	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Silent_p.Y54Y|PIK3C2G_ENST00000433979.1_Silent_p.Y54Y|PIK3C2G_ENST00000538779.1_Silent_p.Y54Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	54					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCCACACTACGAGAGTGAAA	0.398																																					p.Y54Y		.											.	PIK3C2G-1312	0			c.C162T						.						78.0	74.0	75.0					12																	18435177		1871	4100	5971	SO:0001819	synonymous_variant	5288	exon2			ACACTACGAGAGT	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.162C>T	12.37:g.18435177C>T		92	0		80	21	NM_004570	0	0	0	0	0	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																			.		0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
TMTC1	83857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29786206	29786206	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:29786206C>A	ENST00000539277.1	-	6	1060	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.L396L|TMTC1_ENST00000256062.5_Silent_p.L226L|TMTC1_ENST00000381224.2_Silent_p.L288L|TMTC1_ENST00000551659.1_Silent_p.L396L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	334						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTCATAGCACAGGGTCACGG	0.488																																					p.L334L		.											.	TMTC1-90	0			c.G1002T						.						110.0	94.0	99.0					12																	29786206		2203	4300	6503	SO:0001819	synonymous_variant	83857	exon6			ATAGCACAGGGTC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1002G>T	12.37:g.29786206C>A		131	0		233	86	NM_001193451	0	0	0	0	0	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	CCDS53772.1																																																																																			.		0.488	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
PLEKHA8P1	51054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	45568015	45568015	+	RNA	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:45568015G>C	ENST00000256692.5	-	0	670					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTTCAGAAAAGTATTACAGGT	0.458																																					.		.											.	PLEKHA8P1-226	0			.						.						234.0	223.0	227.0					12																	45568015		2203	4300	6503			51054	.			AGAAAAGTATTAC	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568015G>C		163	0		169	56	.	0	0	4	6	2		RNA	SNP	ENST00000256692.5	37																																																																																				.		0.458	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
RAPGEF3	10411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	48131974	48131974	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:48131974A>T	ENST00000449771.2	-	26	2670		c.e26+1		RAPGEF3_ENST00000171000.4_Splice_Site|RAPGEF3_ENST00000549151.1_Splice_Site|RAPGEF3_ENST00000389212.3_Splice_Site|RAPGEF3_ENST00000405493.2_Splice_Site|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Splice_Site			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCGCCCTCTCACCAGGGTTGT	0.667																																					.		.											.	RAPGEF3-660	0			c.2455+2T>A						.						28.0	30.0	30.0					12																	48131974		2203	4300	6503	SO:0001630	splice_region_variant	10411	exon27			CCTCTCACCAGGG	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2581+1T>A	12.37:g.48131974A>T		141	0		204	70	NM_006105	0	0	0	0	0	A8K2G5|E7EQC8|O95634|Q8WVN0	Splice_Site	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575253	0.65878	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3048	0.54895	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAPGEF3	46418241	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	6.073000	0.71245	1.999000	0.58509	0.459000	0.35465	.	.		0.667	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	Intron
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.K234K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'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)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K		.											.	TUBA1C-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A						.						56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	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.492G>A	12.37:g.49666152G>A		243	16		227	10	NM_032704	0	1	748	1284	535		Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																			G|0.998;A|0.002		0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52163733	52163733	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:52163733G>C	ENST00000354534.6	+	18	3632	c.3454G>C	c.(3454-3456)Gag>Cag	p.E1152Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1152Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1152					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGAACAGCCTGAGGAATACTT	0.512																																					p.E1152Q		.											.	SCN8A-29	0			c.G3454C						.						61.0	63.0	63.0					12																	52163733		2012	4180	6192	SO:0001583	missense	6334	exon18			CAGCCTGAGGAAT	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3454G>C	12.37:g.52163733G>C	ENSP00000346534:p.Glu1152Gln	124	0		200	63	NM_014191	0	0	0	0	0	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188311	0.78789	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.85339	-1.97;-1.97;-1.97	5.07	5.07	0.68467	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.92557	0.7636	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72982	0.979;0.969	D	0.92302	0.5850	10	0.51188	T	0.08	.	19.0207	0.92915	0.0:0.0:1.0:0.0	.	1152;1152	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	Q	1152;1152;1152;1065	ENSP00000346534:E1152Q;ENSP00000440360:E1152Q;ENSP00000347255:E1152Q	ENSP00000346534:E1152Q	E	+	1	0	SCN8A	50450000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.804000	0.96469	0.655000	0.94253	GAG	.		0.512	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
FIGNL2	401720	hgsc.bcm.edu	37	12	52215211	52215211	+	lincRNA	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:52215211G>A	ENST00000562343.2	+	0	4188				RP11-923I11.4_ENST00000567167.1_lincRNA																							GGACCTTGAGGGGGACGCCGC	0.726																																					p.P329P		.											.	.	0			c.C987T						.						3.0	3.0	3.0					12																	52215211		1435	3372	4807			401720	exon2			CTTGAGGGGGACG																													12.37:g.52215211G>A		1	0		46	24	NM_001013690	0	0	0	0	0		Silent	SNP	ENST00000562343.2	37																																																																																				.		0.726	RP11-923I11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430848.2		
KRT75	9119	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52827680	52827680	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:52827680G>T	ENST00000252245.5	-	1	629	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	137	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGGTCGATTTGCAGGTGAAGA	0.597																																					p.Q137K		.											.	KRT75-90	0			c.C409A						.						135.0	136.0	135.0					12																	52827680		2203	4300	6503	SO:0001583	missense	9119	exon1			CGATTTGCAGGTG	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.409C>A	12.37:g.52827680G>T	ENSP00000252245:p.Gln137Lys	205	1		302	84	NM_004693	0	0	0	0	0	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460949	0.63513	.	.	ENSG00000170454	ENST00000252245	T	0.80033	-1.33	5.74	5.74	0.90152	.	0.000000	0.52532	D	0.000079	T	0.70404	0.3220	N	0.19112	0.55	0.45272	D	0.998276	B	0.20780	0.048	B	0.22753	0.041	T	0.67841	-0.5566	10	0.66056	D	0.02	.	14.3641	0.66792	0.0:0.2633:0.7367:0.0	.	137	O95678	K2C75_HUMAN	K	137	ENSP00000252245:Q137K	ENSP00000252245:Q137K	Q	-	1	0	KRT75	51113947	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.761000	0.47589	2.702000	0.92279	0.655000	0.94253	CAA	.		0.597	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT2	3849	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	53044230	53044230	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:53044230C>A	ENST00000309680.3	-	2	714	c.693G>T	c.(691-693)ggG>ggT	p.G231G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	231	Linker 1.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGTCGATATACCCCTGGAAGA	0.483																																					p.G231G		.											.	KRT2-92	0			c.G693T						.						173.0	167.0	169.0					12																	53044230		2203	4300	6503	SO:0001819	synonymous_variant	3849	exon2			GATATACCCCTGG		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.693G>T	12.37:g.53044230C>A		113	2		163	54	NM_000423	0	0	0	0	0	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																			C|1.000;A|0.000		0.483	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
SPRYD3	84926	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53470946	53470946	+	Silent	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:53470946T>A	ENST00000301463.4	-	2	209	c.123A>T	c.(121-123)cgA>cgT	p.R41R	SPRYD3_ENST00000547837.1_Silent_p.R78R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	41	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TCTCCTGATATCGGAAAGCTC	0.468																																					p.R41R		.											.	SPRYD3-90	0			c.A123T						.						125.0	117.0	120.0					12																	53470946		2203	4300	6503	SO:0001819	synonymous_variant	84926	exon2			CTGATATCGGAAA	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.123A>T	12.37:g.53470946T>A		68	0		53	13	NM_032840	0	0	0	3	3	B9EG99|Q96SK5	Silent	SNP	ENST00000301463.4	37	CCDS8845.1																																																																																			.		0.468	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840	
OR9K2	441639	broad.mit.edu	37	12	55523835	55523835	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:55523835G>T	ENST00000305377.5	+	1	371	c.283G>T	c.(283-285)Gat>Tat	p.D95Y		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	95						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CTCCTTCATTGATCTTTTCTA	0.418																																					p.D95Y		.											.	OR9K2-69	0			c.G283T						.						178.0	176.0	177.0					12																	55523835		2203	4300	6503	SO:0001583	missense	441639	exon1			TTCATTGATCTTT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.283G>T	12.37:g.55523835G>T	ENSP00000307598:p.Asp95Tyr	23	0		13	3	NM_001005243	0	0	0	0	0	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215606	0.58452	.	.	ENSG00000170605	ENST00000305377	T	0.01185	5.21	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.13072	0.0317	H	0.96430	3.82	0.37317	D	0.909382	D	0.89917	1.0	D	0.97110	1.0	T	0.11518	-1.0584	10	0.87932	D	0	-24.8603	18.4253	0.90607	0.0:0.0:1.0:0.0	.	95	Q8NGE7	OR9K2_HUMAN	Y	95	ENSP00000307598:D95Y	ENSP00000307598:D95Y	D	+	1	0	OR9K2	53810102	1.000000	0.71417	0.949000	0.38748	0.858000	0.48976	4.406000	0.59748	2.753000	0.94483	0.650000	0.86243	GAT	.		0.418	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1		
GRIP1	23426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	66773061	66773061	+	Splice_Site	SNP	C	C	A	rs565811258		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:66773061C>A	ENST00000398016.3	-	19	2532	c.2464G>T	c.(2464-2466)Ggt>Tgt	p.G822C	GRIP1_ENST00000359742.4_Splice_Site_p.G874C|GRIP1_ENST00000286445.7_Splice_Site_p.G874C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAACCTTACCCACTGGCTGTG	0.488																																					p.G822C		.											.	GRIP1-494	0			c.G2464T						.						166.0	162.0	164.0					12																	66773061		1952	4141	6093	SO:0001630	splice_region_variant	23426	exon19			CTTACCCACTGGC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2465+1G>T	12.37:g.66773061C>A		155	0		152	88	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130837	0.37630	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.91	3.08	0.35506	.	0.045544	0.85682	D	0.000000	T	0.79493	0.4455	M	0.65498	2.005	0.49582	D	0.999804	P;D;B;D	0.61697	0.879;0.97;0.001;0.99	P;P;B;P	0.49047	0.556;0.503;0.006;0.599	T	0.78127	-0.2325	9	.	.	.	-18.2837	7.2136	0.25947	0.0:0.7191:0.0:0.2809	.	822;874;822;874	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	C	822;874;874;822;766;714	ENSP00000381098:G822C;ENSP00000352780:G874C;ENSP00000286445:G874C;ENSP00000446047:G822C;ENSP00000446024:G766C;ENSP00000446011:G714C	.	G	-	1	0	GRIP1	65059328	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	2.840000	0.48215	1.434000	0.47414	0.561000	0.74099	GGT	.		0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		Missense_Mutation
RAP1B	5908	bcgsc.ca	37	12	69047921	69047921	+	Silent	SNP	C	C	T	rs558770393		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:69047921C>T	ENST00000250559.9	+	5	444	c.213C>T	c.(211-213)taC>taT	p.Y71Y	RAP1B_ENST00000543697.1_Silent_p.Y71Y|RAP1B_ENST00000537460.1_Silent_p.Y71Y|RAP1B_ENST00000378985.3_Silent_p.Y5Y|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000539091.1_Silent_p.Y29Y|RAP1B_ENST00000541216.1_Silent_p.Y71Y|RAP1B_ENST00000450214.2_Silent_p.Y29Y|RAP1B_ENST00000393436.5_Silent_p.Y71Y|RAP1B_ENST00000543393.1_Silent_p.Y5Y|RAP1B_ENST00000540209.1_Silent_p.Y52Y|RAP1B_ENST00000341355.5_Silent_p.Y71Y|RAP1B_ENST00000463493.1_3'UTR	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	71					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		GGGATTTATACATGAAAAATG	0.323																																					p.Y71Y		.											.	RAP1B-1271	0			c.C213T						.						167.0	174.0	171.0					12																	69047921		2203	4299	6502	SO:0001819	synonymous_variant	5908	exon5			TTTATACATGAAA		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.213C>T	12.37:g.69047921C>T		285	1		230	9	NM_001010942	0	0	40	40	0	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Silent	SNP	ENST00000250559.9	37	CCDS8984.1																																																																																			.		0.323	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942	
C12orf50	160419	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	88381692	88381692	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:88381692G>T	ENST00000298699.2	-	9	932	c.752C>A	c.(751-753)cCt>cAt	p.P251H	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	251										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGCGTTGTAGGTACTAGTCG	0.358																																					p.P251H		.											.	C12orf50-93	0			c.C752A						.						165.0	146.0	152.0					12																	88381692		2203	4300	6503	SO:0001583	missense	160419	exon9			GTTGTAGGTACTA	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.752C>A	12.37:g.88381692G>T	ENSP00000298699:p.Pro251His	117	0		111	6	NM_152589	0	0	0	0	0	Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981218	0.53827	.	.	ENSG00000165805	ENST00000298699	T	0.31769	1.48	5.53	4.59	0.56863	.	0.325791	0.26887	N	0.021995	T	0.43722	0.1260	M	0.63428	1.95	0.80722	D	1	D	0.58268	0.982	P	0.55999	0.789	T	0.30822	-0.9965	10	0.54805	T	0.06	.	10.8455	0.46741	0.0:0.0:0.812:0.188	.	251	Q8NA57	CL050_HUMAN	H	251	ENSP00000298699:P251H	ENSP00000298699:P251H	P	-	2	0	C12orf50	86905823	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.773000	0.47686	2.605000	0.88082	0.650000	0.86243	CCT	.		0.358	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	rs7955450	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2.0	3.0	3.0					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	0	0		9	9	NM_152435	0	0	0	0	0	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337225	96337225	+	Silent	SNP	C	C	T	rs1436121	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000344280.3_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000546386.1_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					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)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3.0	4.0	4.0		49	1.4	1.0	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		0	0		11	11	NM_152435	0	0	0	2	2	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	98940140	98940140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:98940140G>T	ENST00000556029.1	+	8	1350	c.994G>T	c.(994-996)Gga>Tga	p.G332*	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Nonsense_Mutation_p.G223*|TMPO_ENST00000343315.5_Nonsense_Mutation_p.G292*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	332	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATTAGGTGGGAGAAAAAAC	0.313																																					p.G332X		.											.	TMPO-93	0			c.G994T						.						112.0	113.0	113.0					12																	98940140		2203	4299	6502	SO:0001587	stop_gained	7112	exon8			TAGGTGGGAGAAA		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.994G>T	12.37:g.98940140G>T	ENSP00000450627:p.Gly332*	108	0		102	31	NM_001032283	0	0	0	0	0	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.452506	0.97577	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	11.5682	0.50818	0.0:0.1411:0.7291:0.1298	.	.	.	.	X	332;292;223;167	.	ENSP00000340251:G332X	G	+	1	0	TMPO	97464271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	2.699000	0.92147	0.655000	0.94253	GGA	.		0.313	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
UTP20	27340	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	101723173	101723173	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:101723173G>A	ENST00000261637.4	+	27	3537	c.3363G>A	c.(3361-3363)caG>caA	p.Q1121Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1121					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						AGATTTTGCAGATACTGCTCT	0.408																																					p.Q1121Q		.											.	UTP20-155	0			c.G3363A						.						130.0	120.0	123.0					12																	101723173		2203	4300	6503	SO:0001819	synonymous_variant	27340	exon27			TTTGCAGATACTG	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.3363G>A	12.37:g.101723173G>A		88	0		123	45	NM_014503	0	0	0	0	0	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																			.		0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
CHPT1	56994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	102117036	102117036	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:102117036G>C	ENST00000229266.3	+	6	1106	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	CHPT1_ENST00000549872.1_Missense_Mutation_p.E291Q	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	291					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGATGTGTTTGAAAAGCATCC	0.328																																					p.E291Q		.											.	CHPT1-90	0			c.G871C						.						114.0	116.0	115.0					12																	102117036		2203	4300	6503	SO:0001583	missense	56994	exon6			GTGTTTGAAAAGC		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.871G>C	12.37:g.102117036G>C	ENSP00000229266:p.Glu291Gln	79	0		79	37	NM_020244	0	0	18	83	65	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728984	0.30684	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.49432	0.78;0.78	5.94	5.94	0.96194	.	0.094359	0.64402	D	0.000001	T	0.46073	0.1374	L	0.52364	1.645	0.43091	D	0.994765	B;P	0.38167	0.184;0.621	B;B	0.39617	0.305;0.222	T	0.34675	-0.9819	10	0.33141	T	0.24	-29.8403	15.4652	0.75394	0.0:0.1382:0.8617:0.0	.	291;291	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	Q	291;291;124	ENSP00000229266:E291Q;ENSP00000448766:E291Q	ENSP00000229266:E291Q	E	+	1	0	CHPT1	100641167	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.428000	0.80296	2.805000	0.96524	0.643000	0.83706	GAA	.		0.328	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244	
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	104107546	104107546	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:104107546G>T	ENST00000388887.2	+	42	4741	c.4537G>T	c.(4537-4539)Gaa>Taa	p.E1513*		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						TGTGTGCCTGGGTAGGTGTCC	0.517																																					p.E1513X		.											.	STAB2-104	0			c.G4537T						.						262.0	232.0	242.0					12																	104107546		2203	4300	6503	SO:0001630	splice_region_variant	55576	exon42			TGCCTGGGTAGGT	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.4537+1G>T	12.37:g.104107546G>T		97	0		120	36	NM_017564	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	44	10.856667	0.99478	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.18	5.18	0.71444	.	0.059431	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	.	.	.	X	1513;200	.	ENSP00000258495:E200X	E	+	1	0	STAB2	102631676	1.000000	0.71417	0.523000	0.27875	0.315000	0.28087	6.509000	0.73725	2.411000	0.81874	0.555000	0.69702	GAA	.		0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Nonsense_Mutation
UBE3B	89910	broad.mit.edu;bcgsc.ca	37	12	109940954	109940954	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:109940954C>T	ENST00000342494.3	+	14	2004	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	UBE3B_ENST00000434735.2_Missense_Mutation_p.S470L|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S470L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TACCAGACCTCGCTGACAACT	0.527																																					p.S470L		.											.	UBE3B-660	0			c.C1409T						.						114.0	99.0	104.0					12																	109940954		2203	4300	6503	SO:0001583	missense	89910	exon14			AGACCTCGCTGAC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1409C>T	12.37:g.109940954C>T	ENSP00000340596:p.Ser470Leu	99	2		125	49	NM_130466	0	0	0	3	3	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419350	0.62622	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.39406	1.37;1.08;1.66;1.37	5.81	4.92	0.64577	.	0.347035	0.32719	N	0.005723	T	0.28632	0.0709	N	0.12182	0.205	0.47407	D	0.999411	B	0.17268	0.021	B	0.08055	0.003	T	0.06180	-1.0841	10	0.72032	D	0.01	-3.885	15.6137	0.76748	0.0:0.8618:0.1382:0.0	.	470	Q7Z3V4	UBE3B_HUMAN	L	470	ENSP00000391529:S470L;ENSP00000280774:S470L;ENSP00000443131:S470L;ENSP00000340596:S470L	ENSP00000280774:S470L	S	+	2	0	UBE3B	108425337	1.000000	0.71417	0.981000	0.43875	0.569000	0.35902	7.079000	0.76829	1.432000	0.47375	0.655000	0.94253	TCG	.		0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
OAS1	4938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	113348875	113348875	+	Nonsense_Mutation	SNP	T	T	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:113348875T>G	ENST00000202917.5	+	3	752	c.489T>G	c.(487-489)taT>taG	p.Y163*	OAS1_ENST00000551241.1_Nonsense_Mutation_p.Y163*|OAS1_ENST00000445409.2_Nonsense_Mutation_p.Y163*|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Nonsense_Mutation_p.Y163*	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	163					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTGGCGGCTATAAACCTAACC	0.502																																					p.Y163X		.											.	OAS1-70	0			c.T489G						.						75.0	67.0	70.0					12																	113348875		2203	4300	6503	SO:0001587	stop_gained	4938	exon3			CGGCTATAAACCT	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.489T>G	12.37:g.113348875T>G	ENSP00000202917:p.Tyr163*	167	0		202	74	NM_001032409	0	0	0	0	0	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Nonsense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412111	0.83340	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	.	.	.	4.16	2.21	0.28008	.	4.132300	0.00424	N	0.000072	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.016	5.2169	0.15348	0.0:0.6987:0.0:0.3013	.	.	.	.	X	163;163;163;163;163;159	.	ENSP00000202917:Y163X	Y	+	3	2	OAS1	111833258	0.003000	0.15002	0.002000	0.10522	0.015000	0.08874	1.032000	0.30178	0.450000	0.26774	0.459000	0.35465	TAT	.		0.502	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
PIWIL1	9271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	130830339	130830339	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:130830339G>A	ENST00000245255.3	+	4	504	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	78					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)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCGTTAGCAGAGAGAGGAGG	0.363																																					p.E78K		.											.	PIWIL1-92	0			c.G232A						.						166.0	160.0	162.0					12																	130830339		2203	4300	6503	SO:0001583	missense	9271	exon4			TTAGCAGAGAGAG	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.232G>A	12.37:g.130830339G>A	ENSP00000245255:p.Glu78Lys	103	0		142	51	NM_004764	0	0	0	0	0	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839142	0.91117	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6;3.6	5.98	5.98	0.97165	.	0.092352	0.64402	D	0.000001	T	0.08179	0.0204	L	0.45352	1.415	0.80722	D	1	B;P	0.36330	0.426;0.548	B;B	0.40410	0.328;0.23	T	0.43212	-0.9405	10	0.18710	T	0.47	-0.3547	19.4463	0.94849	0.0:0.0:1.0:0.0	.	78;78	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	78	ENSP00000245255:E78K;ENSP00000442086:E78K;ENSP00000440677:E78K;ENSP00000439096:E78K;ENSP00000444353:E78K;ENSP00000438582:E78K	ENSP00000245255:E78K	E	+	1	0	PIWIL1	129396292	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.368000	0.97152	2.835000	0.97688	0.650000	0.86243	GAG	.		0.363	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
TPTE2	93492	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	20024411	20024411	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:20024411G>A	ENST00000400230.2	-	12	920	c.876C>T	c.(874-876)ccC>ccT	p.P292P	TPTE2_ENST00000382975.4_Silent_p.P252P|TPTE2_ENST00000457266.2_Silent_p.P181P|TPTE2_ENST00000382978.1_Silent_p.P252P|TPTE2_ENST00000400103.2_Silent_p.P181P|TPTE2_ENST00000390680.2_Silent_p.P215P|TPTE2_ENST00000382977.4_Silent_p.P292P|TPTE2_ENST00000255310.6_Silent_p.P215P			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	292	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTGTAGAGTGGGGACATTAT	0.294																																					p.P292P		.											.	TPTE2-92	0			c.C876T						.						61.0	68.0	65.0					13																	20024411		2203	4298	6501	SO:0001819	synonymous_variant	93492	exon13			TAGAGTGGGGACA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.876C>T	13.37:g.20024411G>A		337	0		249	137	NM_199254	0	0	0	0	0	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	CCDS45014.1																																																																																			.		0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
DCLK1	9201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	36384973	36384973	+	Splice_Site	SNP	C	C	A	rs535509328		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:36384973C>A	ENST00000360631.3	-	12	1898	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	DCLK1_ENST00000255448.4_Splice_Site_p.G563*|DCLK1_ENST00000379893.1_Splice_Site_p.G256*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCATTTACCCAGTCTCTGCA	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.0				p.G563X		.											.	DCLK1-826	0			c.G1687T						.						172.0	178.0	176.0					13																	36384973		2203	4300	6503	SO:0001630	splice_region_variant	9201	exon12			TTTACCCAGTCTC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1688+1G>T	13.37:g.36384973C>A		43	0		40	22	NM_004734	0	0	0	0	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Nonsense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	38	7.058985	0.98032	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	.	.	.	5.18	5.18	0.71444	.	0.103370	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	.	.	.	X	255;563;563;256;545	.	ENSP00000255448:G563X	G	-	1	0	DCLK1	35282973	1.000000	0.71417	0.998000	0.56505	0.223000	0.24884	7.351000	0.79395	2.572000	0.86782	0.655000	0.94253	GGA	.		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Nonsense_Mutation
MED4	29079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	48655799	48655799	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:48655799G>T	ENST00000258648.2	-	5	515	c.490C>A	c.(490-492)Cca>Aca	p.P164T	MED4_ENST00000495013.1_5'Flank|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.P118T	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	164					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CAGGTCAGTGGAGCACATACA	0.363																																					p.P164T	Pancreas(38;399 1016 9170 13426 20145)	.											.	MED4-187	0			c.C490A						.						114.0	105.0	108.0					13																	48655799		2203	4300	6503	SO:0001583	missense	29079	exon5			TCAGTGGAGCACA	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.490C>A	13.37:g.48655799G>T	ENSP00000258648:p.Pro164Thr	54	0		58	32	NM_014166	0	0	8	82	74	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545912	0.86022	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85713	0.1320	9	0.72032	D	0.01	-16.5729	18.4476	0.90690	0.0:0.0:1.0:0.0	.	142;164	E9PDW1;Q9NPJ6	.;MED4_HUMAN	T	164;142;118;142	.	ENSP00000258648:P164T	P	-	1	0	MED4	47553800	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.756000	0.98918	2.610000	0.88304	0.449000	0.29647	CCA	.		0.363	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166	
ATP7B	540	bcgsc.ca	37	13	52509068	52509068	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:52509068C>A	ENST00000242839.4	-	21	4378	c.4222G>T	c.(4222-4224)Gac>Tac	p.D1408Y	ATP7B_ENST00000344297.5_Missense_Mutation_p.D1201Y|ATP7B_ENST00000418097.2_Missense_Mutation_p.D1343Y|ATP7B_ENST00000400366.3_Missense_Mutation_p.D1297Y|ATP7B_ENST00000417240.2_Missense_Mutation_p.D619Y|ATP7B_ENST00000400370.3_Missense_Mutation_p.D978Y|ATP7B_ENST00000448424.2_Missense_Mutation_p.D1330Y	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1408					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGCCACCTGTCATCCATGCCT	0.612									Wilson disease																												p.D1408Y		.											.	ATP7B-92	0			c.G4222T						.						80.0	87.0	85.0					13																	52509068		2159	4265	6424	SO:0001583	missense	540	exon21	Familial Cancer Database		ACCTGTCATCCAT	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.4222G>T	13.37:g.52509068C>A	ENSP00000242839:p.Asp1408Tyr	101	3		82	44	NM_000053	0	0	0	1	1	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369721	0.24771	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.93	5.09	0.68999	.	0.261286	0.43260	D	0.000585	D	0.86781	0.6015	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;P;D;P	0.89917	1.0;0.997;0.974;0.985;0.974;0.567;0.974;0.884	D;D;P;P;P;P;P;P	0.91635	0.999;0.94;0.66;0.88;0.66;0.556;0.66;0.54	D	0.88275	0.2932	10	0.87932	D	0	-16.3733	15.3988	0.74818	0.0:0.9332:0.0:0.0668	.	1330;1360;1343;619;978;1297;1201;1408	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	Y	1408;1297;1201;619;1330;978;1343	ENSP00000242839:D1408Y;ENSP00000383217:D1297Y;ENSP00000342559:D1201Y;ENSP00000390360:D619Y;ENSP00000416738:D1330Y;ENSP00000383221:D978Y;ENSP00000393343:D1343Y	ENSP00000242839:D1408Y	D	-	1	0	ATP7B	51407069	0.982000	0.34865	1.000000	0.80357	0.067000	0.16453	2.431000	0.44775	1.522000	0.49001	0.655000	0.94253	GAC	.		0.612	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
OLFM4	10562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	53624435	53624435	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:53624435C>A	ENST00000219022.2	+	5	1140	c.1062C>A	c.(1060-1062)acC>acA	p.T354T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	354	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTAACCTGACCACCAACACGA	0.443																																					p.T354T		.											.	OLFM4-69	0			c.C1062A						.						185.0	170.0	175.0					13																	53624435		2203	4300	6503	SO:0001819	synonymous_variant	10562	exon5			CCTGACCACCAAC	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1062C>A	13.37:g.53624435C>A		196	0		210	120	NM_006418	0	0	0	0	0	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																			.		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
DIAPH3	81624	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	60545177	60545177	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:60545177G>C	ENST00000400324.4	-	16	1988	c.1768C>G	c.(1768-1770)Cca>Gca	p.P590A	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P520A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P579A|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P590A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P590A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P544A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	590	FH1.|Pro-rich.				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)		GGAGGAGGTGGAGGCGGCACC	0.582																																					p.P590A		.											.	DIAPH3-516	0			c.C1768G						.						29.0	36.0	34.0					13																	60545177		1941	4141	6082	SO:0001583	missense	81624	exon16			GAGGTGGAGGCGG	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.1768C>G	13.37:g.60545177G>C	ENSP00000383178:p.Pro590Ala	72	0		93	64	NM_001042517	0	0	0	1	1	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820255	0.50633	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;T	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;0.9	5.12	4.27	0.50696	.	0.526483	0.19424	N	0.114601	D	0.92335	0.7568	M	0.74647	2.275	0.46317	D	0.998981	P;B;D	0.76494	0.644;0.052;0.999	B;B;D	0.80764	0.287;0.024;0.994	D	0.91365	0.5115	10	0.39692	T	0.17	.	14.0326	0.64624	0.0749:0.0:0.9251:0.0	.	327;327;590	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	A	590;590;579;544;520;579;520;544;590;327;590	ENSP00000383178:P590A;ENSP00000383184:P590A;ENSP00000367141:P579A;ENSP00000383173:P520A;ENSP00000383174:P544A;ENSP00000267215:P590A	ENSP00000267214:P327A	P	-	1	0	DIAPH3	59443178	1.000000	0.71417	0.263000	0.24496	0.124000	0.20399	5.630000	0.67805	2.411000	0.81874	0.492000	0.49549	CCA	.		0.582	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
KLHL1	57626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	70413106	70413106	+	Splice_Site	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:70413106A>T	ENST00000377844.4	-	6	2174		c.e6+1		KLHL1_ENST00000545028.1_Splice_Site	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1						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)		AGAATTAAATACCTTTGTTGT	0.343																																					.		.											.	KLHL1-90	0			c.1414+2T>A						.						91.0	85.0	87.0					13																	70413106		2201	4296	6497	SO:0001630	splice_region_variant	57626	exon7			TTAAATACCTTTG	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.1414+1T>A	13.37:g.70413106A>T		39	0		27	17	NM_020866	0	0	0	0	0	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Splice_Site	SNP	ENST00000377844.4	37	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506579	0.85282	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2513	0.73549	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLHL1	69311107	1.000000	0.71417	0.980000	0.43619	0.924000	0.55760	7.380000	0.79704	2.074000	0.62210	0.482000	0.46254	.	.		0.343	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	Intron
TMCO3	55002	bcgsc.ca	37	13	114154419	114154419	+	Silent	SNP	G	G	A	rs2260159	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:114154419G>A	ENST00000434316.2	+	4	1130	c.771G>A	c.(769-771)aaG>aaA	p.K257K	TMCO3_ENST00000375391.1_Silent_p.K257K|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	257						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTTGACCAAGCCCAGAGATT	0.463													.|||	1019	0.203474	0.4092	0.1369	5008	,	,		16314	0.1488		0.1292	False		,,,				2504	0.1053				p.K257K		.											.	TMCO3-90	0			c.G771A						.	G		1511,2895	481.5+/-359.1	256,999,948	119.0	120.0	120.0		771	1.5	0.9	13	dbSNP_100	120	1086,7514	226.2+/-262.0	62,962,3276	yes	coding-synonymous	TMCO3	NM_017905.4		318,1961,4224	AA,AG,GG		12.6279,34.2941,19.9677		257/678	114154419	2597,10409	2203	4300	6503	SO:0001819	synonymous_variant	55002	exon4			GACCAAGCCCAGA	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.771G>A	13.37:g.114154419G>A		163	2		147	6	NM_017905	0	0	10	10	0	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	CCDS9537.1																																																																																			G|0.796;A|0.204		0.463	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		17	0		51	4	NM_080687	0	0	5	5	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
POTEM	641455	bcgsc.ca	37	14	20020123	20020123	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:20020123G>T	ENST00000551509.1	-	1	149	c.98C>A	c.(97-99)cCc>cAc	p.P33H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	33										endometrium(4)|kidney(1)|lung(4)	9						CCTGCACCAGGGGAAGCAGTG	0.587																																					p.P33H		.											.	.	0			c.C98A						.						3.0	5.0	4.0					14																	20020123		64	395	459	SO:0001583	missense	641455	exon1			CACCAGGGGAAGC		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.98C>A	14.37:g.20020123G>T	ENSP00000452296:p.Pro33His	636	4		902	201	NM_001145442	0	0	0	0	0		Missense_Mutation	SNP	ENST00000551509.1	37	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	8.932	0.963612	0.18583	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.32023	1.47	.	.	.	.	.	.	.	.	T	0.37100	0.0991	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.19647	-1.0299	6	.	.	.	.	.	.	.	.	33	A6NI47	POTEM_HUMAN	H	33	ENSP00000452296:P33H	.	P	-	2	0	POTEM	19090123	0.001000	0.12720	0.035000	0.18076	0.033000	0.12548	-0.238000	0.08977	0.269000	0.21961	0.274000	0.19336	CCC	.		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442	
DCAF11	80344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24584856	24584856	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:24584856A>T	ENST00000446197.3	+	2	780	c.53A>T	c.(52-54)gAg>gTg	p.E18V	DCAF11_ENST00000559115.1_Missense_Mutation_p.E18V|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.E18V|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396936.1_De_novo_Start_InFrame	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	18					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GACCCCTCCGAGGGCTTGCCC	0.622																																					p.E18V		.											.	.	0			c.A53T						.						61.0	69.0	66.0					14																	24584856		2203	4300	6503	SO:0001583	missense	80344	exon2			CCTCCGAGGGCTT	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.53A>T	14.37:g.24584856A>T	ENSP00000415556:p.Glu18Val	57	0		69	20	NM_181357	0	0	1	6	5	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666819	0.47677	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T;T	0.69040	0.25;-0.37	5.69	5.69	0.88448	.	0.257049	0.37530	N	0.002053	T	0.72170	0.3427	L	0.29908	0.895	0.80722	D	1	D;D	0.57899	0.968;0.981	D;D	0.72625	0.978;0.95	T	0.72975	-0.4128	10	0.45353	T	0.12	-0.208	13.891	0.63738	1.0:0.0:0.0:0.0	.	18;18	Q8TEB1-2;Q8TEB1	.;DCA11_HUMAN	V	18	ENSP00000415556:E18V;ENSP00000380146:E18V	ENSP00000323680:E18V	E	+	2	0	DCAF11	23654696	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.692000	0.54727	2.162000	0.67917	0.397000	0.26171	GAG	.		0.622	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		
FOXG1	2290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	29237443	29237443	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:29237443C>A	ENST00000313071.4	+	1	1157	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	FOXG1_ENST00000382535.3_Missense_Mutation_p.R320S|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	320				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCACCACCCCCGCGCCAGCAG	0.662																																					p.R320S		.											.	FOXG1-660	0			c.C958A						.						77.0	86.0	83.0					14																	29237443		2203	4300	6503	SO:0001583	missense	2290	exon1			CACCCCCGCGCCA		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.958C>A	14.37:g.29237443C>A	ENSP00000339004:p.Arg320Ser	43	0		130	46	NM_005249	0	0	0	0	0	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310087	0.60414	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93076	-3.16;-3.16	4.05	4.05	0.47172	.	0.130853	0.46145	U	0.000311	D	0.91613	0.7350	N	0.24115	0.695	0.50039	D	0.999848	D	0.63880	0.993	P	0.57152	0.814	D	0.89247	0.3588	10	0.16420	T	0.52	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	320	P55316	FOXG1_HUMAN	S	320	ENSP00000371975:R320S;ENSP00000339004:R320S	ENSP00000339004:R320S	R	+	1	0	FOXG1	28307194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.762000	0.55250	1.957000	0.56846	0.491000	0.48974	CGC	.		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
LRFN5	145581	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	42356008	42356008	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:42356008C>G	ENST00000298119.4	+	3	1369	c.180C>G	c.(178-180)gaC>gaG	p.D60E	LRFN5_ENST00000554171.1_Missense_Mutation_p.D60E|LRFN5_ENST00000554120.1_Missense_Mutation_p.D60E	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	60						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTTGGCAGACAATTTTGTTA	0.383										HNSCC(30;0.082)																											p.D60E		.											.	LRFN5-97	0			c.C180G						.						58.0	54.0	56.0					14																	42356008		2203	4300	6503	SO:0001583	missense	145581	exon3			GGCAGACAATTTT	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.180C>G	14.37:g.42356008C>G	ENSP00000298119:p.Asp60Glu	129	1		93	30	NM_152447	0	0	0	0	0	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081037	0.36758	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.52295	0.67;0.67;0.67	5.56	4.66	0.58398	.	0.000000	0.64402	D	0.000012	T	0.42314	0.1197	N	0.21097	0.63	0.46542	D	0.999093	P;P	0.49961	0.84;0.93	P;P	0.56088	0.584;0.791	T	0.10800	-1.0614	10	0.13108	T	0.6	.	9.0855	0.36579	0.0:0.8331:0.0:0.1669	.	60;60	G3V364;Q96NI6	.;LRFN5_HUMAN	E	60	ENSP00000298119:D60E;ENSP00000451897:D60E;ENSP00000451067:D60E	ENSP00000298119:D60E	D	+	3	2	LRFN5	41425758	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.245000	0.32790	2.595000	0.87683	0.650000	0.86243	GAC	.		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	45645661	45645661	+	Missense_Mutation	SNP	G	G	T	rs146490925		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:45645661G>T	ENST00000267430.5	+	14	3789	c.3704G>T	c.(3703-3705)gGa>gTa	p.G1235V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1209V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1235					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						TTTGATTTAGGATTCTGTAGT	0.343								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G1235V		.											.	FANCM-569	0			c.G3704T						.	G	VAL/GLY	0,4406		0,0,2203	85.0	85.0	85.0		3704	5.6	1.0	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCM	NM_020937.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	1235/2049	45645661	1,13005	2203	4300	6503	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ATTTAGGATTCTG	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.3704G>T	14.37:g.45645661G>T	ENSP00000267430:p.Gly1235Val	41	0		23	7	NM_020937	0	0	0	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.699971|3.699971	0.68501|0.68501	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.66099|.	0.89;0.84;-0.19|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.168215|.	0.52532|.	D|.	0.000070|.	T|T	0.72803|0.72803	0.3506|0.3506	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.72075|.	0.922;0.976|.	T|T	0.70737|0.70737	-0.4790|-0.4790	10|5	0.87932|.	D|.	0|.	.|.	17.1205|17.1205	0.86700|0.86700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1209;1235|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	V|S	1235;1209;751|167	ENSP00000267430:G1235V;ENSP00000442493:G1209V;ENSP00000452033:G751V|.	ENSP00000267430:G1235V|.	G|R	+|+	2|3	0|2	FANCM|FANCM	44715411|44715411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	6.196000|6.196000	0.72094|0.72094	2.633000|2.633000	0.89246|0.89246	0.591000|0.591000	0.81541|0.81541	GGA|AGG	G|1.000;T|0.000		0.343	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	52923853	52923853	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:52923853C>G	ENST00000281741.4	-	17	2029	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	553					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GATAACATATCCTTTTAGGTA	0.284																																					p.G553A		.											.	TXNDC16-22	0			c.G1658C						.						82.0	92.0	89.0					14																	52923853		2197	4277	6474	SO:0001583	missense	57544	exon17			ACATATCCTTTTA	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1658G>C	14.37:g.52923853C>G	ENSP00000281741:p.Gly553Ala	61	0		61	23	NM_020784	0	0	0	0	0	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015968	0.75161	.	.	ENSG00000087301	ENST00000281741	T	0.34667	1.35	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.71581	2.175	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.62642	-0.6811	10	0.66056	D	0.02	-33.795	15.4717	0.75443	0.0:1.0:0.0:0.0	.	548;553	B7ZME4;Q9P2K2	.;TXD16_HUMAN	A	553	ENSP00000281741:G553A	ENSP00000281741:G553A	G	-	2	0	TXNDC16	51993603	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	3.978000	0.56881	2.509000	0.84616	0.557000	0.71058	GGA	.		0.284	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	53004373	53004373	+	Silent	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:53004373T>C	ENST00000281741.4	-	5	632	c.261A>G	c.(259-261)gaA>gaG	p.E87E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	87					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTGATATTTCTTCTTTGACAC	0.303																																					p.E87E		.											.	TXNDC16-22	0			c.A261G						.						96.0	93.0	94.0					14																	53004373		2190	4292	6482	SO:0001819	synonymous_variant	57544	exon5			TATTTCTTCTTTG	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.261A>G	14.37:g.53004373T>C		19	0		29	5	NM_020784	0	0	0	0	0	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Silent	SNP	ENST00000281741.4	37	CCDS32083.1																																																																																			.		0.303	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	
DACT1	51339	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	59113119	59113119	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:59113119G>T	ENST00000335867.4	+	4	1802	c.1778G>T	c.(1777-1779)gGg>gTg	p.G593V	DACT1_ENST00000541264.2_Missense_Mutation_p.G312V|DACT1_ENST00000556859.1_Missense_Mutation_p.G312V|DACT1_ENST00000395153.3_Missense_Mutation_p.G556V			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	593					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCCTCCAGGGGCTGGAGAAC	0.612																																					p.G593V		.											.	DACT1-291	0			c.G1778T						.						13.0	17.0	16.0					14																	59113119		2198	4296	6494	SO:0001583	missense	51339	exon4			TCCAGGGGCTGGA	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1778G>T	14.37:g.59113119G>T	ENSP00000337439:p.Gly593Val	52	0		83	26	NM_016651	0	0	0	0	0	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	4.529	0.098157	0.08681	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.73	1.15	0.20763	.	0.634264	0.15918	N	0.238265	T	0.28797	0.0714	L	0.29908	0.895	0.22240	N	0.999264	B;B	0.17038	0.01;0.02	B;B	0.16289	0.011;0.015	T	0.16541	-1.0399	10	0.36615	T	0.2	-10.8761	9.957	0.41673	0.0:0.4778:0.2801:0.2421	.	556;593	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	V	312;312;556;593;312	ENSP00000451598:G312V;ENSP00000378581:G312V;ENSP00000378582:G556V;ENSP00000337439:G593V;ENSP00000442850:G312V	ENSP00000337439:G593V	G	+	2	0	DACT1	58182872	0.081000	0.21417	0.010000	0.14722	0.716000	0.41182	0.548000	0.23314	-0.103000	0.12175	0.462000	0.41574	GGG	.		0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
TMEM30B	161291	hgsc.bcm.edu	37	14	61747742	61747742	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:61747742C>A	ENST00000555868.1	-	1	816	c.124G>T	c.(124-126)Gcg>Tcg	p.A42S	TMEM30B_ENST00000355702.2_Missense_Mutation_p.A42S|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	42					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GCCAGGCCCGCGCAGAAGAAG	0.682																																					p.A42S		.											.	TMEM30B-90	0			c.G124T						.						5.0	4.0	5.0					14																	61747742		1809	3690	5499	SO:0001583	missense	161291	exon1			GGCCCGCGCAGAA	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.124G>T	14.37:g.61747742C>A	ENSP00000450842:p.Ala42Ser	6	0		33	16	NM_001017970	0	0	2	2	0	B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132118	0.56828	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	5.12	5.12	0.69794	.	0.213031	0.40222	N	0.001151	T	0.32133	0.0819	N	0.17474	0.49	0.29747	N	0.836681	B	0.16396	0.017	B	0.15052	0.012	T	0.29397	-1.0013	9	0.66056	D	0.02	-12.8521	11.235	0.48936	0.1831:0.8169:0.0:0.0	.	42	Q3MIR4	CC50B_HUMAN	S	42	.	ENSP00000347930:A42S	A	-	1	0	TMEM30B	60817495	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.437000	0.34991	2.397000	0.81536	0.585000	0.79938	GCG	.		0.682	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844	
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	68251818	68251818	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:68251818T>A	ENST00000347230.4	-	19	3619	c.3481A>T	c.(3481-3483)Acc>Tcc	p.T1161S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.T1161S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1161					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGCAAGGGTGCTGCAGTAA	0.527																																					p.T1161S		.											.	ZFYVE26-162	0			c.A3481T						.						162.0	168.0	166.0					14																	68251818		2203	4300	6503	SO:0001583	missense	23503	exon19			CAAGGGTGCTGCA	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3481A>T	14.37:g.68251818T>A	ENSP00000251119:p.Thr1161Ser	124	0		162	53	NM_015346	0	0	2	2	0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089955	0.55968	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.33438	1.57;1.41	5.54	5.54	0.83059	.	0.163202	0.53938	N	0.000048	T	0.22513	0.0543	L	0.41824	1.3	0.27997	N	0.935421	P;B	0.35628	0.513;0.247	B;B	0.26202	0.067;0.031	T	0.14615	-1.0466	10	0.27082	T	0.32	-16.0318	13.0512	0.58957	0.0:0.0:0.0:1.0	.	1161;1161	G3V2D8;Q68DK2	.;ZFY26_HUMAN	S	1161;1140;1161	ENSP00000251119:T1161S;ENSP00000450603:T1161S	ENSP00000251119:T1161S	T	-	1	0	ZFYVE26	67321571	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.636000	0.46545	2.098000	0.63641	0.533000	0.62120	ACC	.		0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ACTN1	87	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	69349604	69349604	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:69349604C>T	ENST00000193403.6	-	15	2187	c.1804G>A	c.(1804-1806)Ggc>Agc	p.G602S	ACTN1_ENST00000376839.3_Missense_Mutation_p.G537S|ACTN1_ENST00000394419.4_Missense_Mutation_p.G602S|ACTN1_ENST00000438964.2_Missense_Mutation_p.G602S|ACTN1_ENST00000538545.2_Missense_Mutation_p.G602S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	602	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCCATTTGCCATTGATCTCC	0.478																																					p.G602S		.											.	ACTN1-514	0			c.G1804A						.						193.0	159.0	170.0					14																	69349604		2203	4300	6503	SO:0001583	missense	87	exon15			ATTTGCCATTGAT	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1804G>A	14.37:g.69349604C>T	ENSP00000193403:p.Gly602Ser	81	1		117	32	NM_001102	0	0	96	195	99	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353871	0.11182	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.43	3.62	0.41486	.	0.314803	0.34223	N	0.004155	T	0.37919	0.1021	N	0.04880	-0.145	0.34466	D	0.702284	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.19391	0.025;0.001;0.001;0.002;0.002	T	0.39418	-0.9615	10	0.05620	T	0.96	.	8.3917	0.32533	0.0:0.7078:0.0:0.2922	.	233;602;602;602;249	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;ACTN1_HUMAN;.	S	602;602;602;537;602;192	ENSP00000193403:G602S;ENSP00000377941:G602S;ENSP00000414272:G602S;ENSP00000366035:G537S;ENSP00000439828:G602S;ENSP00000444422:G192S	ENSP00000193403:G602S	G	-	1	0	ACTN1	68419357	0.626000	0.27120	0.974000	0.42286	0.999000	0.98932	0.670000	0.25157	0.866000	0.35629	0.655000	0.94253	GGC	.		0.478	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
TTLL5	23093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	76349181	76349181	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:76349181G>A	ENST00000298832.9	+	30	3881	c.3676G>A	c.(3676-3678)Gtt>Att	p.V1226I	TTLL5_ENST00000557636.1_Missense_Mutation_p.V1241I|TTLL5_ENST00000556893.1_Missense_Mutation_p.V777I|TTLL5_ENST00000554510.1_Missense_Mutation_p.V735I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1226					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGCCTCCCTGGTTCCCAAACC	0.488																																					p.V1226I		.											.	TTLL5-92	0			c.G3676A						.						123.0	134.0	131.0					14																	76349181		2203	4300	6503	SO:0001583	missense	23093	exon30			TCCCTGGTTCCCA	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3676G>A	14.37:g.76349181G>A	ENSP00000298832:p.Val1226Ile	77	0		124	40	NM_015072	0	0	20	36	16	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235980	0.39498	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27402	3.79;3.87;1.67;1.68	5.9	3.03	0.35002	.	0.718295	0.12306	N	0.480697	T	0.18593	0.0446	N	0.17082	0.46	0.26394	N	0.976528	B;B;B;B	0.30914	0.144;0.3;0.075;0.089	B;B;B;B	0.29598	0.066;0.104;0.017;0.018	T	0.17379	-1.0371	10	0.59425	D	0.04	.	7.3967	0.26939	0.1388:0.2591:0.6021:0.0	.	1241;300;777;1226	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	I	300;1241;1226;777;777;735	ENSP00000450713:V1241I;ENSP00000298832:V1226I;ENSP00000452524:V777I;ENSP00000451946:V735I	ENSP00000286653:V300I	V	+	1	0	TTLL5	75418934	0.999000	0.42202	1.000000	0.80357	0.863000	0.49368	0.354000	0.20146	0.374000	0.24650	0.655000	0.94253	GTT	.		0.488	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	
ASB2	51676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	94420823	94420823	+	Silent	SNP	C	C	T	rs201823942		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:94420823C>T	ENST00000315988.4	-	2	662	c.174G>A	c.(172-174)gcG>gcA	p.A58A	ASB2_ENST00000555019.1_Silent_p.A106A|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	58					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.A58A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCAAGGGGTCCGCAGGCCTGT	0.597																																					p.A106A		.											.	ASB2-228	1	Substitution - coding silent(1)	large_intestine(1)	c.G318A						.						72.0	64.0	66.0					14																	94420823		2203	4300	6503	SO:0001819	synonymous_variant	51676	exon4			GGGGTCCGCAGGC	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.174G>A	14.37:g.94420823C>T		95	0		137	53	NM_001202429	0	0	0	0	0	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	CCDS9915.1																																																																																			C|0.999;T|0.001		0.597	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
SERPINA12	145264	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	94955965	94955965	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:94955965C>A	ENST00000341228.2	-	5	1840	c.1045G>T	c.(1045-1047)Gtg>Ttg	p.V349L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.V349L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	349					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ACCTCGCCCACTTTCAGGCTG	0.592																																					p.V349L		.											.	SERPINA12-310	0			c.G1045T						.						87.0	71.0	77.0					14																	94955965		2203	4300	6503	SO:0001583	missense	145264	exon5			CGCCCACTTTCAG	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1045G>T	14.37:g.94955965C>A	ENSP00000342109:p.Val349Leu	131	1		182	71	NM_173850	0	0	0	0	0		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	4.505	0.093657	0.08632	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.85411	-1.98;-1.98	4.93	3.98	0.46160	Serpin domain (3);	0.119337	0.37761	N	0.001954	T	0.74959	0.3785	L	0.27944	0.81	0.37943	D	0.932383	B	0.18166	0.026	B	0.26969	0.075	T	0.72937	-0.4140	10	0.46703	T	0.11	.	7.3564	0.26721	0.1677:0.743:0.0:0.0892	.	349	Q8IW75	SPA12_HUMAN	L	349	ENSP00000451738:V349L;ENSP00000342109:V349L	ENSP00000342109:V349L	V	-	1	0	SERPINA12	94025718	0.560000	0.26570	0.986000	0.45419	0.025000	0.11179	0.362000	0.20284	2.434000	0.82447	0.561000	0.74099	GTG	.		0.592	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	101347633	101347633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:101347633C>A	ENST00000534062.1	-	1	3551	c.3493G>T	c.(3493-3495)Gag>Tag	p.E1165*	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1165					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGAACAGCTCAGCCAGCTCC	0.647																																					p.E1165X		.											.	RTL1-46	0			c.G3493T						.						15.0	21.0	19.0					14																	101347633		692	1591	2283	SO:0001587	stop_gained	388015	exon1			ACAGCTCAGCCAG		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3493G>T	14.37:g.101347633C>A	ENSP00000435342:p.Glu1165*	80	0		174	62	NM_001134888	0	0	0	0	0	E9PKS8	Nonsense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	39	7.455996	0.98296	.	.	ENSG00000254656	ENST00000534062	.	.	.	3.04	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.2072	0.25913	0.2651:0.7349:0.0:0.0	.	.	.	.	X	1165	.	ENSP00000435342:E1165X	E	-	1	0	RTL1	100417386	0.000000	0.05858	0.006000	0.13384	0.162000	0.22319	0.077000	0.14738	0.776000	0.33473	0.655000	0.94253	GAG	.		0.647	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
CDC42BPB	9578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	103430940	103430940	+	Silent	SNP	C	C	A	rs45512495	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:103430940C>A	ENST00000361246.2	-	19	2913	c.2625G>T	c.(2623-2625)gcG>gcT	p.A875A		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTCCAGCCGCGCGGACATGT	0.587																																					p.A875A		.											.	CDC42BPB-581	0			c.G2625T						.						35.0	33.0	34.0					14																	103430940		2203	4300	6503	SO:0001819	synonymous_variant	9578	exon19			CAGCCGCGCGGAC	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2625G>T	14.37:g.103430940C>A		56	0		147	47	NM_006035	0	0	2	3	1		Silent	SNP	ENST00000361246.2	37	CCDS9978.1																																																																																			C|0.998;T|0.002		0.587	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
CKB	1152	hgsc.bcm.edu	37	14	103988180	103988180	+	Silent	SNP	G	G	T	rs1136165	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3.0	4.0	3.0		456	-0.0	1.0	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		0	0		7	7	NM_001823	0	0	12	24	12	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
KIF26A	26153	hgsc.bcm.edu	37	14	104644099	104644099	+	Silent	SNP	T	T	C	rs2497297	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3.0	4.0	4.0		4974	-0.8	1.0	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		0	0		5	5	NM_015656	0	0	0	0	0	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
ADSSL1	122622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105208191	105208191	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr14:105208191A>C	ENST00000330877.2	+	9	885	c.800A>C	c.(799-801)tAc>tCc	p.Y267S	ADSSL1_ENST00000332972.5_Missense_Mutation_p.Y310S	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GCAGGGACCTACCCCTTTGTG	0.597																																					p.Y310S		.											.	ADSSL1-515	0			c.A929C						.						99.0	99.0	99.0					14																	105208191		2203	4300	6503	SO:0001583	missense	122622	exon9			GGACCTACCCCTT	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.800A>C	14.37:g.105208191A>C	ENSP00000331260:p.Tyr267Ser	152	0		213	70	NM_199165	0	0	0	0	0		Missense_Mutation	SNP	ENST00000330877.2	37	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539374	0.85917	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.61742	0.08;0.08	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.75484	0.986;0.954	D	0.90686	0.4609	10	0.87932	D	0	-4.8816	14.3854	0.66940	1.0:0.0:0.0:0.0	.	310;267	Q8N142-2;Q8N142	.;PURA1_HUMAN	S	267;310	ENSP00000331260:Y267S;ENSP00000333019:Y310S	ENSP00000331260:Y267S	Y	+	2	0	ADSSL1	104279236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.139000	0.94554	1.868000	0.54150	0.533000	0.62120	TAC	.		0.597	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1		
OR4N4	283694	broad.mit.edu;bcgsc.ca	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483																																					p.A67A		.											.	OR4N4-73	0			c.C201A						.						150.0	149.0	149.0					15																	22382673		2203	4297	6500	SO:0001819	synonymous_variant	283694	exon1			CTTGGCCTTCCTG	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.201C>A	15.37:g.22382673C>A		240	0		329	31	NM_001005241	0	0	0	0	0	Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	CCDS32173.1																																																																																			.		0.483	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
NDN	4692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	23931489	23931489	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:23931489G>T	ENST00000331837.4	-	1	961	c.876C>A	c.(874-876)tcC>tcA	p.S292S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTCTGTATCGGGAGGGCCAGG	0.587									Prader-Willi syndrome																												p.S292S		.											.	NDN-90	0			c.C876A						.						30.0	35.0	33.0					15																	23931489		2203	4294	6497	SO:0001819	synonymous_variant	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	GTATCGGGAGGGC	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.876C>A	15.37:g.23931489G>T		29	0		26	13	NM_002487	0	0	2	2	0	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																			.		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
GABRB3	2562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	26806226	26806226	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:26806226C>A	ENST00000311550.5	-	8	1044	c.933G>T	c.(931-933)atG>atT	p.M311I	GABRB3_ENST00000400188.3_Missense_Mutation_p.M240I|GABRB3_ENST00000541819.2_Missense_Mutation_p.M367I|GABRB3_ENST00000299267.4_Missense_Mutation_p.M311I|GABRB3_ENST00000545868.1_Missense_Mutation_p.M226I	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	311	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAAGCAGCCCATAAGGTACA	0.478																																					p.M311I		.											.	GABRB3-518	0			c.G933T						.						176.0	167.0	170.0					15																	26806226		2203	4300	6503	SO:0001583	missense	2562	exon8			GCAGCCCATAAGG		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.933G>T	15.37:g.26806226C>A	ENSP00000308725:p.Met311Ile	122	0		134	56	NM_021912	0	0	0	0	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507968	0.27036	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.81856	0.4911	L	0.31926	0.97	0.80722	D	1	B;B;B	0.28400	0.175;0.175;0.21	B;B;B	0.33960	0.108;0.07;0.173	T	0.81113	-0.1080	10	0.66056	D	0.02	.	17.7373	0.88397	0.0:1.0:0.0:0.0	.	367;311;311	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	I	311;367;311;240;226	ENSP00000308725:M311I;ENSP00000442408:M367I;ENSP00000299267:M311I;ENSP00000383049:M240I;ENSP00000439169:M226I	ENSP00000299267:M311I	M	-	3	0	GABRB3	24357319	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.707000	0.84623	2.416000	0.81992	0.655000	0.94253	ATG	.		0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	28422657	28422657	+	Splice_Site	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:28422657T>C	ENST00000261609.7	-	60	9272		c.e60-2			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGGCCACCTGCAACATTCA	0.512																																					.		.											.	HERC2-234	0			c.9164-2A>G						.						60.0	53.0	56.0					15																	28422657		2203	4300	6503	SO:0001630	splice_region_variant	8924	exon61			GCCACCTGCAACA	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9164-2A>G	15.37:g.28422657T>C		93	0		120	52	NM_004667	0	0	0	0	0		Splice_Site	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728379	0.89390	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3429	0.83101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26096252	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.698000	0.74608	2.256000	0.74724	0.523000	0.50628	.	.		0.512	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron
FAM189A1	23359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	29416896	29416896	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:29416896C>A	ENST00000261275.4	-	10	1296	c.1297G>T	c.(1297-1299)Ggg>Tgg	p.G433W		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	433						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TCACCGCTCCCAGGCACAGCC	0.567																																					p.G433W		.											.	FAM189A1-22	0			c.G1297T						.						64.0	68.0	67.0					15																	29416896		692	1591	2283	SO:0001583	missense	23359	exon10			CGCTCCCAGGCAC		CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.1297G>T	15.37:g.29416896C>A	ENSP00000261275:p.Gly433Trp	64	0		114	57	NM_015307	0	0	0	0	0	A0PK09	Missense_Mutation	SNP	ENST00000261275.4	37	CCDS45198.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360025	0.61403	.	.	ENSG00000104059	ENST00000261275	T	0.03124	4.04	4.56	4.56	0.56223	.	0.453065	0.19895	N	0.103642	T	0.13114	0.0318	L	0.57536	1.79	0.09310	N	1	D	0.67145	0.996	P	0.62885	0.908	T	0.01330	-1.1383	10	0.72032	D	0.01	-32.5044	14.1757	0.65539	0.0:1.0:0.0:0.0	.	433	O60320	F1891_HUMAN	W	433	ENSP00000261275:G433W	ENSP00000261275:G433W	G	-	1	0	FAM189A1	27204188	0.018000	0.18449	0.004000	0.12327	0.005000	0.04900	3.371000	0.52379	2.334000	0.79466	0.609000	0.83330	GGG	.		0.567	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417254.1	NM_015307	
FMN1	342184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	33192240	33192240	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:33192240C>A	ENST00000559047.1	-	11	3593	c.3594G>T	c.(3592-3594)cgG>cgT	p.R1198R	FMN1_ENST00000561249.1_Silent_p.R1100R|FMN1_ENST00000334528.9_Silent_p.R975R			Q68DA7	FMN1_HUMAN	formin 1	1198	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)		CGGCTTGTCCCCGAGTCCTAT	0.408																																					p.R975R		.											.	FMN1-23	0			c.G2925T						.						168.0	174.0	172.0					15																	33192240		1842	4085	5927	SO:0001819	synonymous_variant	342184	exon10			TTGTCCCCGAGTC	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.3594G>T	15.37:g.33192240C>A		50	0		64	19	NM_001103184	0	0	0	0	0	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																				.		0.408	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
INO80	54617	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	41313297	41313297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:41313297G>C	ENST00000361937.3	-	26	3499	c.3075C>G	c.(3073-3075)taC>taG	p.Y1025*	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Nonsense_Mutation_p.Y1025*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1025	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTCATTGCAGTAAGAATCCA	0.488																																					p.Y1025X		.											.	INO80-72	0			c.C3075G						.						76.0	70.0	72.0					15																	41313297		2203	4300	6503	SO:0001587	stop_gained	54617	exon26			ATTGCAGTAAGAA	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3075C>G	15.37:g.41313297G>C	ENSP00000355205:p.Tyr1025*	90	0		97	35	NM_017553	0	0	4	7	3	A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	40	8.487895	0.98834	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.14	-0.0364	0.13888	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0537	0.42233	0.3382:0.0:0.6618:0.0	.	.	.	.	X	1025	.	ENSP00000355205:Y1025X	Y	-	3	2	INO80	39100589	0.998000	0.40836	0.995000	0.50966	0.986000	0.74619	0.399000	0.20916	-0.149000	0.11215	-0.140000	0.14226	TAC	.		0.488	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
FBN1	2200	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	48714179	48714179	+	Nonsense_Mutation	SNP	C	C	A	rs363811	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:48714179C>A	ENST00000316623.5	-	61	7995	c.7540G>T	c.(7540-7542)Gga>Tga	p.G2514*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2514	EGF-like 43; 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)		TGGGTAAATCCGGGAGGACAT	0.428																																					p.G2514X		.											.	FBN1-92	0			c.G7540T	GRCh37	CM025900|CM077253	FBN1	M	rs363811	.						109.0	93.0	99.0					15																	48714179		2198	4296	6494	SO:0001587	stop_gained	2200	exon61			TAAATCCGGGAGG	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.7540G>T	15.37:g.48714179C>A	ENSP00000325527:p.Gly2514*	166	1		253	117	NM_000138	0	0	12	13	1	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	51	18.582208	0.99907	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8568	0.96762	0.0:1.0:0.0:0.0	.	.	.	.	X	2514	.	ENSP00000325527:G2514X	G	-	1	0	FBN1	46501471	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GGA	C|0.994;T|0.006		0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
TRPM7	54822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	50888468	50888468	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:50888468G>C	ENST00000313478.7	-	23	3555	c.3274C>G	c.(3274-3276)Ctt>Gtt	p.L1092V	TRPM7_ENST00000560955.1_Missense_Mutation_p.L1092V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1092					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATGCAATAAGAAGATTAACC	0.303																																					p.L1092V		.											.	TRPM7-392	0			c.C3274G						.						55.0	53.0	53.0					15																	50888468		1828	4079	5907	SO:0001583	missense	54822	exon23			CAATAAGAAGATT	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3274C>G	15.37:g.50888468G>C	ENSP00000320239:p.Leu1092Val	160	0		152	52	NM_017672	0	0	0	0	0	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832847	0.91036	.	.	ENSG00000092439	ENST00000313478	D	0.98835	-5.17	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.84433	2.695	0.80722	D	1	D	0.55172	0.97	P	0.51974	0.686	D	0.99827	1.1051	10	0.87932	D	0	-19.8898	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1092	Q96QT4	TRPM7_HUMAN	V	1092	ENSP00000320239:L1092V	ENSP00000320239:L1092V	L	-	1	0	TRPM7	48675760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	CTT	.		0.303	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63054564	63054564	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:63054564A>T	ENST00000561311.1	+	38	5103	c.4873A>T	c.(4873-4875)Aac>Tac	p.N1625Y	TLN2_ENST00000472902.1_Missense_Mutation_p.N18Y|TLN2_ENST00000306829.6_Missense_Mutation_p.N1625Y			Q9Y4G6	TLN2_HUMAN	talin 2	1625					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						TCTGGCCATCAACCCCAAAGA	0.542																																					p.N1625Y		.											.	TLN2-573	0			c.A4873T						.						245.0	211.0	223.0					15																	63054564		2203	4300	6503	SO:0001583	missense	83660	exon36			GCCATCAACCCCA	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.4873A>T	15.37:g.63054564A>T	ENSP00000453508:p.Asn1625Tyr	106	0		234	86	NM_015059	0	0	1	1	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653734	0.88056	.	.	ENSG00000171914	ENST00000306829	T	0.14391	2.51	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.82056	2.57	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39522	-0.9610	10	0.72032	D	0.01	-25.7753	15.086	0.72155	1.0:0.0:0.0:0.0	.	669;1625	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Y	1625	ENSP00000303476:N1625Y	ENSP00000303476:N1625Y	N	+	1	0	TLN2	60841856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.966000	0.57179	0.533000	0.62120	AAC	.		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	rs34317102	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4.0	4.0	4.0		13,13	3.1	1.0	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	0	0		4	4	NM_171846	0	0	0	0	0	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
MTFMT	123263	hgsc.bcm.edu	37	15	65321938	65321938	+	Missense_Mutation	SNP	A	A	G	rs2946655	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:65321938A>G	ENST00000220058.4	-	1	27	c.14T>C	c.(13-15)gTg>gCg	p.V5A	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	5			V -> A (in dbSNP:rs2946655).			mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACAGCGCCGCACCAACACCCT	0.756													A|||	338	0.067492	0.1641	0.0389	5008	,	,		7250	0.0169		0.0398	False		,,,				2504	0.0378				p.V5A		.											.	MTFMT-24	0			c.T14C						.	A	ALA/VAL	143,1983		1,141,921	2.0	2.0	2.0		14	-4.2	0.0	15	dbSNP_101	2	108,5112		0,108,2502	no	missense	MTFMT	NM_139242.3	64	1,249,3423	GG,GA,AA		2.069,6.7262,3.4168	benign	5/390	65321938	251,7095	1063	2610	3673	SO:0001583	missense	123263	exon1			CGCCGCACCAACA	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.14T>C	15.37:g.65321938A>G	ENSP00000220058:p.Val5Ala	0	0		17	8	NM_139242	0	0	0	4	4	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	124	0.056776556776556776	72	0.14634146341463414	16	0.04419889502762431	11	0.019230769230769232	25	0.032981530343007916	A	12.07	1.827975	0.32329	0.067262	0.02069	ENSG00000103707	ENST00000220058;ENST00000543678	T;T	0.66280	-0.14;-0.2	4.72	-4.22	0.03800	.	1.925310	0.03217	N	0.176917	T	0.00271	0.0008	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03344	-1.1046	9	0.27785	T	0.31	-0.3296	6.2961	0.21087	0.233:0.3076:0.4595:0.0	rs2946655;rs2946655	5	Q96DP5	FMT_HUMAN	A	5	ENSP00000220058:V5A;ENSP00000443754:V5A	ENSP00000220058:V5A	V	-	2	0	MTFMT	63108991	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.089000	0.15002	-0.347000	0.08299	0.524000	0.50904	GTG	A|0.942;G|0.058		0.756	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	
IGDCC4	57722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65687496	65687496	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:65687496C>A	ENST00000352385.2	-	8	1721	c.1512G>T	c.(1510-1512)gtG>gtT	p.V504V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	504	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGAGTAGGCCACCACGTAGA	0.567																																					p.V504V		.											.	IGDCC4-93	0			c.G1512T						.						94.0	89.0	91.0					15																	65687496		2201	4299	6500	SO:0001819	synonymous_variant	57722	exon8			GTAGGCCACCACG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1512G>T	15.37:g.65687496C>A		104	0		175	65	NM_020962	0	0	0	0	0	Q9HCE4	Silent	SNP	ENST00000352385.2	37	CCDS10206.1																																																																																			.		0.567	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962	
REC114	283677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	73766261	73766261	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:73766261T>A	ENST00000331090.6	+	2	276	c.248T>A	c.(247-249)cTg>cAg	p.L83Q	C15orf60_ENST00000560581.1_Splice_Site_p.L83Q	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		83					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CAGACACTACTGGTAGGTTTT	0.343																																					p.L83Q		.											.	C15orf60-46	0			c.T248A						.						101.0	90.0	93.0					15																	73766261		1845	4083	5928	SO:0001630	splice_region_variant	283677	exon2			CACTACTGGTAGG																												ENST00000331090.6:c.249+1T>A	15.37:g.73766261T>A		46	0		48	10	NM_001042367	0	0	0	0	0		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.691086	0.68271	.	.	ENSG00000183324	ENST00000331090	T	0.54479	0.57	5.56	5.56	0.83823	.	0.079876	0.52532	D	0.000080	T	0.69360	0.3102	M	0.68952	2.095	0.36212	D	0.851403	D	0.89917	1.0	D	0.91635	0.999	T	0.77981	-0.2383	10	0.87932	D	0	-3.4463	12.1065	0.53816	0.0:0.0:0.0:1.0	.	83	Q7Z4M0	CO060_HUMAN	Q	83	ENSP00000328423:L83Q	ENSP00000328423:L83Q	L	+	2	0	C15orf60	71553314	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.118000	0.50414	2.116000	0.64780	0.455000	0.32223	CTG	.		0.343	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		Missense_Mutation
TBC1D21	161514	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	74180025	74180025	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:74180025T>C	ENST00000300504.2	+	9	925	c.842T>C	c.(841-843)aTg>aCg	p.M281T	TBC1D21_ENST00000562056.1_Missense_Mutation_p.M244T|TBC1D21_ENST00000535547.2_Missense_Mutation_p.M245T	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	281						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ATGCTGCAGATGGTGCGGGAG	0.642																																					p.M281T		.											.	TBC1D21-92	0			c.T842C						.						100.0	82.0	88.0					15																	74180025		2198	4297	6495	SO:0001583	missense	161514	exon9			TGCAGATGGTGCG	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.842T>C	15.37:g.74180025T>C	ENSP00000300504:p.Met281Thr	91	0		164	41	NM_153356	0	0	0	0	0	B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	T	5.147	0.212664	0.09757	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.10668	2.85;2.85	4.56	4.56	0.56223	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000002	T	0.08714	0.0216	L	0.29908	0.895	0.37693	D	0.923936	P;P	0.48589	0.811;0.912	B;B	0.44315	0.348;0.446	T	0.29731	-1.0002	10	0.10636	T	0.68	.	10.6097	0.45415	0.0:0.0:0.0:1.0	.	245;281	B9A6M2;Q8IYX1	.;TBC21_HUMAN	T	281;245	ENSP00000300504:M281T;ENSP00000439325:M245T	ENSP00000300504:M281T	M	+	2	0	TBC1D21	71967078	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.616000	0.46376	1.829000	0.53265	0.533000	0.62120	ATG	.		0.642	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	
CSPG4	1464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	75969502	75969502	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:75969502A>T	ENST00000308508.5	-	10	5450	c.5358T>A	c.(5356-5358)taT>taA	p.Y1786*	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1786	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGCCGTGGGCATACACTAGCT	0.687																																					p.Y1786X		.											.	CSPG4-229	0			c.T5358A						.						8.0	10.0	10.0					15																	75969502		2175	4279	6454	SO:0001587	stop_gained	1464	exon10			GTGGGCATACACT	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5358T>A	15.37:g.75969502A>T	ENSP00000312506:p.Tyr1786*	14	0		18	4	NM_001897	0	0	2	2	0	D3DW77|Q92675	Nonsense_Mutation	SNP	ENST00000308508.5	37	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	A	39	7.608490	0.98387	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.39	-0.912	0.10504	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1764	0.42941	0.3318:0.0:0.6682:0.0	.	.	.	.	X	1786	.	ENSP00000312506:Y1786X	Y	-	3	2	CSPG4	73756557	0.000000	0.05858	0.763000	0.31416	0.053000	0.15095	-1.256000	0.02869	-0.538000	0.06281	-0.366000	0.07423	TAT	.		0.687	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
ADAMTS7	11173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	79063945	79063945	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:79063945C>T	ENST00000388820.4	-	15	2568	c.2358G>A	c.(2356-2358)aaG>aaA	p.K786K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	786	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGACAGGCTCCTTGGTGGGAC	0.682																																					p.K786K		.											.	ADAMTS7-226	0			c.G2358A						.						13.0	15.0	15.0					15																	79063945		2167	4200	6367	SO:0001819	synonymous_variant	11173	exon15			AGGCTCCTTGGTG	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2358G>A	15.37:g.79063945C>T		30	0		36	13	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																			.		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
TMC3	342125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81624991	81624991	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:81624991G>T	ENST00000359440.5	-	22	3207	c.3072C>A	c.(3070-3072)ccC>ccA	p.P1024P	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Silent_p.P1025P	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCTTCAGAGGGGGCTGTGGGT	0.572																																					p.P1024P		.											.	TMC3-70	0			c.C3072A						.						41.0	48.0	45.0					15																	81624991		2033	4210	6243	SO:0001819	synonymous_variant	342125	exon22			CAGAGGGGGCTGT	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3072C>A	15.37:g.81624991G>T		115	0		276	78	NM_001080532	0	0	1	1	0		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																			.		0.572	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
ZNF592	9640	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	85327349	85327349	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:85327349G>C	ENST00000560079.2	+	4	1731	c.1443G>C	c.(1441-1443)aaG>aaC	p.K481N	ZNF592_ENST00000299927.3_Missense_Mutation_p.K481N	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	481					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACAGGCAAGAAGCAACAGA	0.637																																					p.K481N		.											.	ZNF592-96	0			c.G1443C						.						55.0	45.0	48.0					15																	85327349		2203	4299	6502	SO:0001583	missense	9640	exon4			AGGCAAGAAGCAA	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1443G>C	15.37:g.85327349G>C	ENSP00000452877:p.Lys481Asn	68	1		93	37	NM_014630	0	0	1	1	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967248	0.34754	.	.	ENSG00000166716	ENST00000299927	T	0.00623	6.15	5.36	1.37	0.22104	.	0.472591	0.24373	N	0.039083	T	0.00468	0.0015	N	0.08118	0	0.39109	D	0.961444	P	0.42203	0.773	B	0.39465	0.3	T	0.80564	-0.1326	10	0.44086	T	0.13	-10.2644	8.1152	0.30940	0.4166:0.0:0.5834:0.0	.	481	Q92610	ZN592_HUMAN	N	481	ENSP00000299927:K481N	ENSP00000299927:K481N	K	+	3	2	ZNF592	83128353	1.000000	0.71417	0.978000	0.43139	0.723000	0.41478	1.375000	0.34295	0.260000	0.21731	0.655000	0.94253	AAG	.		0.637	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86791011	86791011	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:86791011G>T	ENST00000441037.2	+	6	593	c.498G>T	c.(496-498)cgG>cgT	p.R166R	AGBL1_ENST00000421325.2_Silent_p.R166R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	166					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						AGATCCGACGGGGCTTGCTGC	0.652																																					p.R166R		.											.	.	0			c.G498T						.						41.0	43.0	43.0					15																	86791011		2151	4260	6411	SO:0001819	synonymous_variant	123624	exon6			CCGACGGGGCTTG	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.498G>T	15.37:g.86791011G>T		80	0		172	58	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																			.		0.652	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
FES	2242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	91436336	91436336	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:91436336G>A	ENST00000328850.3	+	15	1975	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	FES_ENST00000450438.2_Silent_p.L483L|FES_ENST00000444422.2_Silent_p.L541L|FES_ENST00000414248.2_Silent_p.L483L|FES_ENST00000394300.3_Silent_p.L553L|FES_ENST00000394302.1_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCAGGATCCTGAAGCAGTACA	0.632																																					p.L611L		.											.	FES-546	0			c.G1833A						.						117.0	85.0	96.0					15																	91436336		2198	4298	6496	SO:0001819	synonymous_variant	2242	exon15			GATCCTGAAGCAG	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1833G>A	15.37:g.91436336G>A		77	0		148	58	NM_002005	0	0	0	0	0	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	CCDS10365.1																																																																																			.		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005	
CHD2	1106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	93499776	93499776	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:93499776C>G	ENST00000394196.4	+	16	2965	c.1897C>G	c.(1897-1899)Ctg>Gtg	p.L633V	CHD2_ENST00000557381.1_Missense_Mutation_p.L633V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	633	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTATAAAACTCTGATTGATTT	0.448																																					p.L633V		.											.	CHD2-229	0			c.C1897G						.						114.0	113.0	113.0					15																	93499776		2197	4297	6494	SO:0001583	missense	1106	exon16			AAAACTCTGATTG	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1897C>G	15.37:g.93499776C>G	ENSP00000377747:p.Leu633Val	52	0		72	25	NM_001271	0	0	0	0	0	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139490	0.56936	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.93547	-3.24;-3.24	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.27710	U	0.018167	D	0.94909	0.8354	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.71414	0.94;0.973	D	0.94654	0.7842	10	0.87932	D	0	-10.3973	10.5441	0.45050	0.0:0.8821:0.0:0.1179	.	633;633	O14647;O14647-2	CHD2_HUMAN;.	V	633	ENSP00000377747:L633V;ENSP00000451366:L633V	ENSP00000377747:L633V	L	+	1	2	CHD2	91300780	0.582000	0.26749	1.000000	0.80357	0.998000	0.95712	0.913000	0.28611	2.595000	0.87683	0.557000	0.71058	CTG	.		0.448	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
MEF2A	4205	broad.mit.edu	37	15	100252710	100252715	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-	rs3138597|rs58424802|rs373652230		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:100252710_100252715delCAGCAG	ENST00000557785.1	+	11	1577_1582	c.1228_1233delCAGCAG	c.(1228-1233)cagcagdel	p.QQ418del	MEF2A_ENST00000557942.1_In_Frame_Del_p.QQ426del|MEF2A_ENST00000354410.5_In_Frame_Del_p.QQ420del|MEF2A_ENST00000453228.2_In_Frame_Del_p.QQ418del|MEF2A_ENST00000558812.1_In_Frame_Del_p.QQ358del|MEF2A_ENST00000449277.2_In_Frame_Del_p.QQ350del|MEF2A_ENST00000338042.6_In_Frame_Del_p.QQ427del	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	428					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATCGGGCTTCcagcagcagcagcagc	0.607																																					p.412_413del		.											.	MEF2A-455	0			c.1234_1239del						.																																			SO:0001651	inframe_deletion	4205	exon11			GGCTTCCAGCAGC		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1228_1233delCAGCAG	15.37:g.100252716_100252721delCAGCAG	ENSP00000453441:p.Gln418_Gln419del	21	0		91	0	NM_005587	0	0	0	0	0	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	In_Frame_Del	DEL	ENST00000557785.1	37	CCDS53978.1																																																																																			.		0.607	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	100636657	100636657	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr15:100636657C>A	ENST00000268070.4	-	15	2146	c.2041G>T	c.(2041-2043)Ggg>Tgg	p.G681W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	681	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCTGCAGACCCGATGATGCCG	0.567																																					p.G681W		.											.	ADAMTS17-228	0			c.G2041T						.						91.0	100.0	97.0					15																	100636657		2203	4300	6503	SO:0001583	missense	170691	exon15			CAGACCCGATGAT	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2041G>T	15.37:g.100636657C>A	ENSP00000268070:p.Gly681Trp	70	0		115	29	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204455	0.79127	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.71461	-0.57	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91402	0.5144	10	0.87932	D	0	.	17.6927	0.88272	0.0:1.0:0.0:0.0	.	438;681	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	W	681;438	ENSP00000268070:G681W	ENSP00000268070:G681W	G	-	1	0	ADAMTS17	98454180	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	6.694000	0.74587	2.466000	0.83321	0.655000	0.94253	GGG	.		0.567	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
CACNA1H	8912	bcgsc.ca	37	16	1256150	1256150	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:1256150C>A	ENST00000348261.5	+	12	2898	c.2650C>A	c.(2650-2652)Cgc>Agc	p.R884S	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R884S|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R884S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	884					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)	GTCTGTGCTGCGCACCTTCCG	0.687																																					p.R884S		.											.	CACNA1H-67	0			c.C2650A						.						22.0	30.0	28.0					16																	1256150		2077	4189	6266	SO:0001583	missense	8912	exon12			GTGCTGCGCACCT	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.2650C>A	16.37:g.1256150C>A	ENSP00000334198:p.Arg884Ser	23	1		104	70	NM_021098	0	0	0	0	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931495	0.52866	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98567	-5.0;-5.0	3.96	3.96	0.45880	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	H	0.97635	4.045	0.38682	D	0.952554	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99353	1.0915	10	0.87932	D	0	.	10.4562	0.44553	0.3241:0.6759:0.0:0.0	.	884;884	O95180-2;O95180	.;CAC1H_HUMAN	S	884	ENSP00000334198:R884S;ENSP00000351401:R884S	ENSP00000334198:R884S	R	+	1	0	CACNA1H	1196151	0.812000	0.29077	0.997000	0.53966	0.163000	0.22366	0.736000	0.26130	2.050000	0.60909	0.561000	0.74099	CGC	.		0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
PTX4	390667	hgsc.bcm.edu	37	16	1537601	1537601	+	Missense_Mutation	SNP	A	A	G	rs2667674	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:1537601A>G	ENST00000447419.2	-	2	537	c.512T>C	c.(511-513)cTg>cCg	p.L171P	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.L166P			Q96A99	PTX4_HUMAN	pentraxin 4, long	171						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCGCCCCTCCAGAGCAGCCAG	0.731													A|||	341	0.0680911	0.0719	0.0634	5008	,	,		14003	0.0526		0.0875	False		,,,				2504	0.0624				p.L166P		.											.	PTX4-90	0			c.T497C						.	A	PRO/LEU	253,4059		9,235,1912	11.0	14.0	13.0		497	4.0	0.0	16	dbSNP_100	13	771,7671		29,713,3479	no	missense	PTX4	NM_001013658.1	98	38,948,5391	GG,GA,AA		9.1329,5.8673,8.0289	probably-damaging	166/474	1537601	1024,11730	2156	4221	6377	SO:0001583	missense	390667	exon2			CCCTCCAGAGCAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.512T>C	16.37:g.1537601A>G	ENSP00000445277:p.Leu171Pro	1	0		16	13	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		158	0.07234432234432235	30	0.06097560975609756	26	0.0718232044198895	28	0.04895104895104895	74	0.09762532981530343	A	11.77	1.737133	0.30774	0.058673	0.091329	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09630	3.08;2.96	5.1	3.99	0.46301	.	0.583371	0.15824	N	0.242871	T	0.00637	0.0021	L	0.52573	1.65	0.37568	P	0.08066399999999996	D	0.89917	1.0	D	0.81914	0.995	T	0.03898	-1.0994	9	0.72032	D	0.01	.	9.5613	0.39371	0.9143:0.0:0.0857:0.0	rs2667674	166	Q96A99-2	.	P	171;166	ENSP00000445277:L171P;ENSP00000293922:L166P	ENSP00000293922:L166P	L	-	2	0	PTX4	1477602	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.062000	0.30555	0.861000	0.35504	0.533000	0.62120	CTG	A|0.928;G|0.072		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2815642	2815642	+	Missense_Mutation	SNP	C	C	A	rs146437403		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:2815642C>A	ENST00000301740.8	+	11	5662	c.5113C>A	c.(5113-5115)Cgt>Agt	p.R1705S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1705	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGACTGTCCCGTAGAAGCCG	0.582																																					p.R1705S		.											.	SRRM2-93	0			c.C5113A						.						62.0	54.0	57.0					16																	2815642		2198	4300	6498	SO:0001583	missense	23524	exon11			CTGTCCCGTAGAA	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5113C>A	16.37:g.2815642C>A	ENSP00000301740:p.Arg1705Ser	75	0		52	29	NM_016333	0	0	0	15	15	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345099	0.24426	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38240	1.15	5.47	4.49	0.54785	.	0.000000	0.56097	D	0.000021	T	0.38268	0.1034	N	0.08118	0	0.34293	D	0.683451	D	0.76494	0.999	D	0.79784	0.993	T	0.55829	-0.8079	10	0.45353	T	0.12	-7.3676	13.1567	0.59522	0.1611:0.8389:0.0:0.0	.	1705	Q9UQ35	SRRM2_HUMAN	S	1705;1705;957	ENSP00000301740:R1705S	ENSP00000301740:R1705S	R	+	1	0	SRRM2	2755643	0.402000	0.25311	0.924000	0.36721	0.916000	0.54674	1.986000	0.40677	1.261000	0.44149	0.655000	0.94253	CGT	C|1.000;T|0.000		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
GTF3C1	2975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	27523098	27523098	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:27523098C>A	ENST00000356183.4	-	7	1113	c.1098G>T	c.(1096-1098)cgG>cgT	p.R366R	GTF3C1_ENST00000561623.1_Silent_p.R366R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	366					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						TGAGCATATCCCGCTCGAACA	0.498																																					p.R366R		.											.	GTF3C1-94	0			c.G1098T						.						201.0	150.0	168.0					16																	27523098		2197	4300	6497	SO:0001819	synonymous_variant	2975	exon7			CATATCCCGCTCG	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.1098G>T	16.37:g.27523098C>A		209	1		236	162	NM_001520	0	0	0	2	2	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																			.		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
IRX3	79191	hgsc.bcm.edu	37	16	54318528	54318528	+	Missense_Mutation	SNP	A	A	G	rs1450355	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:54318528A>G	ENST00000329734.3	-	2	1977	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	422	Pro-rich.		L -> P (in dbSNP:rs1450355). {ECO:0000269|PubMed:15489334}.		mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GAGCGGGTGCAGGCGGGGGCC	0.776													g|||	4851	0.96865	0.888	0.987	5008	,	,		8017	1.0		1.0	False		,,,				2504	1.0				p.L422P	GBM(143;1830 1866 4487 4646 37383)	.											.	IRX3-90	0			c.T1265C						.	T	PRO/LEU	1678,102		788,102,0	1.0	2.0	2.0		1265	2.5	1.0	16	dbSNP_88	2	4195,3		2096,3,0	no	missense	IRX3	NM_024336.2	98	2884,105,0	GG,GA,AA		0.0715,5.7303,1.7564	benign	422/502	54318528	5873,105	890	2099	2989	SO:0001583	missense	79191	exon2			GGGTGCAGGCGGG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.1265T>C	16.37:g.54318528A>G	ENSP00000331608:p.Leu422Pro	0	0		6	6	NM_024336	0	0	0	4	4	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	2108	0.9652014652014652	433	0.8800813008130082	354	0.9779005524861878	567	0.9912587412587412	754	0.9947229551451188	g	5.642	0.303067	0.10678	0.942697	0.999285	ENSG00000177508	ENST00000329734	T	0.54279	0.58	4.4	2.45	0.29901	.	0.652897	0.14990	N	0.286760	T	0.00012	0.0000	N	0.01352	-0.895	0.29914	P	0.82336	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.33940	T	0.23	-4.0049	5.143	0.14969	0.1733:0.0:0.6627:0.164	rs1450355;rs17852160;rs60836119	422	P78415	IRX3_HUMAN	P	422	ENSP00000331608:L422P	ENSP00000331608:L422P	L	-	2	0	IRX3	52876029	1.000000	0.71417	0.984000	0.44739	0.000000	0.00434	1.455000	0.35190	0.155000	0.19261	-1.528000	0.00924	CTG	T|0.035;G|0.004		0.776	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
SLC12A3	6559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	56899349	56899349	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:56899349G>C	ENST00000563236.1	+	1	227	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SLC12A3_ENST00000262502.5_Missense_Mutation_p.E68Q|SLC12A3_ENST00000566786.1_Missense_Mutation_p.E68Q|SLC12A3_ENST00000438926.2_Missense_Mutation_p.E68Q			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	68			E -> K (in GS). {ECO:0000269|PubMed:17654016}.		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)	GCCCACATATGAGCACTATGC	0.592																																					p.E68Q		.											.	SLC12A3-155	0			c.G202C	GRCh37	CM076527	SLC12A3	M		.						145.0	121.0	129.0					16																	56899349		2198	4300	6498	SO:0001583	missense	6559	exon1			ACATATGAGCACT		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.202G>C	16.37:g.56899349G>C	ENSP00000456149:p.Glu68Gln	105	0		162	64	NM_001126108	0	0	0	0	0	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046937	0.75846	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D;D	0.96885	-4.16;-4.16	5.42	5.42	0.78866	Amino acid permease, N-terminal (1);	0.050868	0.85682	D	0.000000	D	0.97185	0.9080	L	0.47190	1.495	0.58432	D	0.999997	P;P;P	0.50710	0.678;0.938;0.923	P;D;P	0.64237	0.522;0.923;0.874	D	0.97868	1.0284	10	0.72032	D	0.01	.	19.2117	0.93758	0.0:0.0:1.0:0.0	.	68;68;68	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	Q	68	ENSP00000402152:E68Q;ENSP00000262502:E68Q	ENSP00000262502:E68Q	E	+	1	0	SLC12A3	55456850	1.000000	0.71417	0.983000	0.44433	0.472000	0.32918	7.920000	0.87521	2.520000	0.84964	0.655000	0.94253	GAG	.		0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
DRC7	84229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	57736008	57736008	+	Missense_Mutation	SNP	G	G	T	rs368134516		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:57736008G>T	ENST00000360716.3	+	6	886	c.665G>T	c.(664-666)cGg>cTg	p.R222L	CCDC135_ENST00000394337.4_Missense_Mutation_p.R222L|CCDC135_ENST00000336825.8_Intron|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		222					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACCTGACGCGGGAGGTGTGC	0.592																																					p.R222L		.											.	CCDC135-90	0			c.G665T						.						125.0	101.0	109.0					16																	57736008		2198	4300	6498	SO:0001583	missense	84229	exon5			TGACGCGGGAGGT																												ENST00000360716.3:c.665G>T	16.37:g.57736008G>T	ENSP00000353942:p.Arg222Leu	174	0		263	112	NM_032269	0	0	0	0	0	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020397	0.54576	.	.	ENSG00000159625	ENST00000394337;ENST00000360716	T;T	0.78126	-1.15;-1.15	5.1	5.1	0.69264	.	0.275273	0.33346	N	0.005004	T	0.79545	0.4464	M	0.85041	2.73	0.80722	D	1	B	0.33583	0.418	B	0.38562	0.276	T	0.78650	-0.2121	10	0.38643	T	0.18	-26.1592	8.4651	0.32951	0.0819:0.0:0.7628:0.1553	.	222	Q8IY82	CC135_HUMAN	L	222	ENSP00000377869:R222L;ENSP00000353942:R222L	ENSP00000353942:R222L	R	+	2	0	CCDC135	56293509	0.997000	0.39634	0.980000	0.43619	0.860000	0.49131	2.613000	0.46351	2.363000	0.80096	0.453000	0.30009	CGG	.		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2		
DDX28	55794	broad.mit.edu;ucsc.edu;mdanderson.org	37	16	68056823	68056823	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:68056823G>C	ENST00000332395.5	-	1	947	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	95						mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCCAGCCTTGAGAGGCTAGC	0.697																																					p.Q95E		.											.	DDX28-226	0			c.C283G						.						4.0	5.0	5.0					16																	68056823		1963	3917	5880	SO:0001583	missense	55794	exon1			AGCCTTGAGAGGC	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.283C>G	16.37:g.68056823G>C	ENSP00000332340:p.Gln95Glu	11	0		26	12	NM_018380	0	0	3	9	6		Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059934	0.36373	.	.	ENSG00000182810	ENST00000332395	T	0.02944	4.1	5.21	5.21	0.72293	.	0.336412	0.31381	N	0.007747	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.43829	-0.9367	10	0.66056	D	0.02	-3.2261	14.4829	0.67594	0.0:0.1884:0.8116:0.0	.	95	Q9NUL7	DDX28_HUMAN	E	95	ENSP00000332340:Q95E	ENSP00000332340:Q95E	Q	-	1	0	DDX28	66614324	0.460000	0.25776	0.885000	0.34714	0.202000	0.24057	3.736000	0.55052	2.713000	0.92767	0.655000	0.94253	CAA	.		0.697	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380	
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	72829226	72829226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829226delG	ENST00000268489.5	-	9	8027	c.7355delC	c.(7354-7356)ccafs	p.P2452fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P1538fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2452					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGCAGCTCTGGCTTTGGTTG	0.562																																					p.P2452fs		.											.	ZFHX3-72	0			c.7355delC						.						114.0	96.0	102.0					16																	72829226		2198	4300	6498	SO:0001589	frameshift_variant	463	exon9			AGCTCTGGCTTTG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7355delC	16.37:g.72829226delG	ENSP00000268489:p.Pro2452fs	48	0		70	14	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ZFHX3	463	hgsc.bcm.edu	37	16	72829227	72829228	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829227_72829228delGC	ENST00000268489.5	-	9	8025_8026	c.7353_7354delGC	c.(7351-7356)aagccafs	p.KP2451fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KP1537fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2451					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGCAGCTCTGGCTTTGGTTGTC	0.569																																					p.2451_2452del		.											.	ZFHX3-72	0			c.7353_7354del						.																																			SO:0001589	frameshift_variant	463	exon9			GCTCTGGCTTTGG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7353_7354delGC	16.37:g.72829227_72829228delGC	ENSP00000268489:p.Lys2451fs	47	0		70	0	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.569	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ZFHX3	463	hgsc.bcm.edu;bcgsc.ca	37	16	72829228	72829228	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:72829228C>T	ENST00000268489.5	-	9	8025	c.7353G>A	c.(7351-7353)aaG>aaA	p.K2451K	ZFHX3_ENST00000397992.5_Silent_p.K1537K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2451					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGCTCTGGCTTTGGTTGTC	0.567																																					p.K2451K		.											.	ZFHX3-72	0			c.G7353A						.						114.0	96.0	102.0					16																	72829228		2198	4300	6498	SO:0001819	synonymous_variant	463	exon9			CTCTGGCTTTGGT	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7353G>A	16.37:g.72829228C>T		47	0		68	14	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.567	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
CDH13	1012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	83378568	83378568	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:83378568G>T	ENST00000566620.1	+	6	1028	c.738G>T	c.(736-738)cgG>cgT	p.R246R	CDH13_ENST00000268613.10_Silent_p.R293R|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.R207R	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> W (in a patient with amyotrophic lateral sclerosis). {ECO:0000269|PubMed:21220648}.		adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGATCTTTCGGGAAGGCCCCT	0.507																																					p.R293R		.											.	CDH13-67	0			c.G879T						.						105.0	105.0	105.0					16																	83378568		1930	4132	6062	SO:0001819	synonymous_variant	1012	exon7			CTTTCGGGAAGGC	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.738G>T	16.37:g.83378568G>T		77	0		116	48	NM_001220488	0	0	0	1	1	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																			.		0.507	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
ADAD2	161931	hgsc.bcm.edu	37	16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	rs8044695|rs554488585	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|ADAD2_ENST00000567413.1_3'UTR|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		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						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5.0	7.0	7.0		131,131	-1.1	0.0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	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.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	0	0		7	7	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599659	88599659	+	Missense_Mutation	SNP	G	G	T	rs71395304	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:88599659G>T	ENST00000319555.3	+	10	1615	c.1293G>T	c.(1291-1293)aaG>aaT	p.K431N	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	431					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGGACAGAAAGGCCCTGGCCG	0.721													G|||	612	0.122204	0.0091	0.1398	5008	,	,		9175	0.3294		0.0915	False		,,,				2504	0.0808				p.K431N	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.G1293T						.	G	ASN/LYS	61,3871		0,61,1905	4.0	5.0	4.0		1293	-1.2	0.1	16	dbSNP_130	4	544,7434		10,524,3455	yes	missense	ZFPM1	NM_153813.2	94	10,585,5360	TT,TG,GG		6.8188,1.5514,5.0798	probably-damaging	431/1007	88599659	605,11305	1966	3989	5955	SO:0001583	missense	161882	exon10			CAGAAAGGCCCTG	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1293G>T	16.37:g.88599659G>T	ENSP00000326630:p.Lys431Asn	1	0		24	15	NM_153813	0	0	4	6	2		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	308	0.14102564102564102	9	0.018292682926829267	49	0.13535911602209943	192	0.3356643356643357	58	0.07651715039577836	G	10.12	1.262467	0.23051	0.015514	0.068188	ENSG00000179588	ENST00000319555	T	0.08008	3.14	3.39	-1.17	0.09648	.	1.163550	0.06454	U	0.728227	T	0.00012	0.0000	L	0.60455	1.87	0.40357	P	0.02080599999999999	D	0.69078	0.997	P	0.57911	0.829	T	0.41161	-0.9524	9	0.42905	T	0.14	-7.9024	6.4423	0.21856	0.5249:0.0:0.4751:0.0	.	431	Q8IX07	FOG1_HUMAN	N	431	ENSP00000326630:K431N	ENSP00000326630:K431N	K	+	3	2	ZFPM1	87127160	0.522000	0.26266	0.089000	0.20774	0.599000	0.36880	0.335000	0.19806	-0.105000	0.12132	0.289000	0.19496	AAG	G|0.858;T|0.142		0.721	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
RPL13	6137	hgsc.bcm.edu	37	16	89627671	89627671	+	Silent	SNP	C	C	T	rs174035	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:89627671C>T	ENST00000393099.3	+	2	390	c.141C>T	c.(139-141)gcC>gcT	p.A47A	SNORD68_ENST00000363214.1_RNA|RPL13_ENST00000452368.3_Silent_p.A47A|RPL13_ENST00000311528.5_Silent_p.A47A|RPL13_ENST00000567815.1_Silent_p.A47A	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	47					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)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		GCCGCATCGCCCCGCGCCCCG	0.741													C|||	720	0.14377	0.1256	0.1282	5008	,	,		12083	0.13		0.1839	False		,,,				2504	0.1524				p.A47A		.											.	RPL13-90	0			c.C141T						.	C	,	382,2954		24,334,1310	3.0	4.0	3.0		141,141	0.9	1.0	16	dbSNP_79	3	1125,5851		71,983,2434	no	coding-synonymous,coding-synonymous	RPL13	NM_000977.3,NM_033251.2	,	95,1317,3744	TT,TC,CC		16.1267,11.4508,14.614	,	47/212,47/212	89627671	1507,8805	1668	3488	5156	SO:0001819	synonymous_variant	6137	exon3			CATCGCCCCGCGC	AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"""L ribosomal proteins"""	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.141C>T	16.37:g.89627671C>T		0	0		11	8	NM_001243131	0	1	275	1030	754	B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Silent	SNP	ENST00000393099.3	37	CCDS10979.1																																																																																			C|0.846;T|0.154		0.741	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258294.2	NM_000977	
GAS8	2622	bcgsc.ca	37	16	90095558	90095558	+	Intron	SNP	C	C	T	rs76646627		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:90095558C>T	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.G65S|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.G65S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		acggggcagcctacggggcag	0.672																																					p.G65S		.											.	C16orf3-90	1	Substitution - Missense(1)	lung(1)	c.G193A						.						25.0	20.0	21.0					16																	90095558		2191	4298	6489	SO:0001627	intron_variant	750	exon1			GGCAGCCTACGGG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1428C>T	16.37:g.90095558C>T		63	0		204	14	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990885	0.18966	.	.	ENSG00000221819	ENST00000408886	T	0.57595	0.39	1.2	-1.14	0.09741	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.14755	-1.0461	8	.	.	.	.	2.4936	0.04616	0.0:0.4385:0.3231:0.2384	.	73	O95177	CP003_HUMAN	S	65	ENSP00000386218:G65S	.	G	-	1	0	C16orf3	88623059	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.145000	0.10265	-0.326000	0.08564	0.407000	0.27541	GGC	C|0.500;T|0.500		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
GAS8	2622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	90099238	90099238	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:90099238A>T	ENST00000268699.4	+	4	523	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.Q109L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	134	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CACCGCATACAGGAGAGTGTG	0.557																																					p.Q134L		.											.	GAS8-227	0			c.A401T						.						114.0	88.0	97.0					16																	90099238		2198	4300	6498	SO:0001583	missense	2622	exon4			GCATACAGGAGAG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.401A>T	16.37:g.90099238A>T	ENSP00000268699:p.Gln134Leu	190	0		383	93	NM_001481	0	0	11	11	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438930	0.25900	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.32988	1.43;1.44	5.82	5.82	0.92795	.	0.189826	0.45867	D	0.000322	T	0.31979	0.0814	L	0.58101	1.795	0.54753	D	0.99998	B;B;B;B	0.23185	0.002;0.081;0.001;0.007	B;B;B;B	0.17722	0.002;0.019;0.004;0.002	T	0.05767	-1.0865	9	.	.	.	-48.906	15.8299	0.78743	1.0:0.0:0.0:0.0	.	105;51;134;134	B7Z1X3;Q68D98;B7Z9B0;O95995	.;.;.;GAS8_HUMAN	L	109;134;105;134	ENSP00000440977:Q109L;ENSP00000268699:Q134L	.	Q	+	2	0	GAS8	88626739	1.000000	0.71417	0.993000	0.49108	0.050000	0.14768	8.239000	0.89811	2.225000	0.72522	0.528000	0.53228	CAG	.		0.557	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
GAS8	2622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	90099240	90099240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr16:90099240G>T	ENST00000268699.4	+	4	525	c.403G>T	c.(403-405)Gag>Tag	p.E135*	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Nonsense_Mutation_p.E110*	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	135	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCGCATACAGGAGAGTGTGCT	0.562																																					p.E135X		.											.	GAS8-227	0			c.G403T						.						115.0	88.0	97.0					16																	90099240		2198	4300	6498	SO:0001587	stop_gained	2622	exon4			ATACAGGAGAGTG	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.403G>T	16.37:g.90099240G>T	ENSP00000268699:p.Glu135*	184	0		384	94	NM_001481	0	0	11	11	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Nonsense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458506	0.63401	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	.	.	.	5.82	5.82	0.92795	.	0.047329	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-40.7228	19.6802	0.95960	0.0:0.0:1.0:0.0	.	.	.	.	X	110;135;106;135	.	.	E	+	1	0	GAS8	88626741	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	9.109000	0.94291	2.758000	0.94735	0.650000	0.86243	GAG	.		0.562	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
CLUH	23277	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	2601707	2601707	+	Missense_Mutation	SNP	C	C	A	rs369298872		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:2601707C>A	ENST00000570628.2	-	10	1435	c.1330G>T	c.(1330-1332)Gcg>Tcg	p.A444S	CLUH_ENST00000435359.1_Missense_Mutation_p.A444S|CLUH_ENST00000538975.1_Missense_Mutation_p.A444S			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	444					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											ACGTAGGCCGCCACGTCCCCC	0.612																																					p.A444S		.											.	.	0			c.G1330T						.						45.0	52.0	50.0					17																	2601707		2124	4208	6332	SO:0001583	missense	23277	exon10			AGGCCGCCACGTC	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1330G>T	17.37:g.2601707C>A	ENSP00000458986:p.Ala444Ser	175	1		275	137	NM_015229	0	0	0	4	4	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484184	0.84854	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.84944	-1.92;-1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.95965	0.8965	10	0.87932	D	0	.	18.1762	0.89762	0.0:1.0:0.0:0.0	.	444;444	O75153;C9J6D7	K0664_HUMAN;.	S	444	ENSP00000388872:A444S;ENSP00000439628:A444S	ENSP00000320468:A444S	A	-	1	0	KIAA0664	2548457	1.000000	0.71417	0.997000	0.53966	0.237000	0.25408	7.487000	0.81328	2.532000	0.85374	0.655000	0.94253	GCG	.		0.612	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C	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	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)	CATGTAGTTGTAGTGGATGGT	0.572		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.Y234C	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	c.A701G	GRCh37	CM035576	TP53	M		.						119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	exon7	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;	TAGTTGTAGTGGA	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.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	204	2		203	94	NM_000546	0	0	0	6	6	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RCVRN	5957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	9801437	9801437	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:9801437A>T	ENST00000226193.5	-	3	1018	c.578T>A	c.(577-579)gTg>gAg	p.V193E	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	193					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTTTTCCTTCACTTTTTGAGG	0.478																																					p.V193E		.											.	RCVRN-90	0			c.T578A						.						329.0	287.0	301.0					17																	9801437		2203	4300	6503	SO:0001583	missense	5957	exon3			TCCTTCACTTTTT	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.578T>A	17.37:g.9801437A>T	ENSP00000226193:p.Val193Glu	114	0		115	64	NM_002903	0	0	0	0	0	Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354090	0.41700	.	.	ENSG00000109047	ENST00000226193	T	0.66460	-0.21	5.21	4.12	0.48240	.	0.167353	0.45867	D	0.000330	T	0.60143	0.2246	M	0.74647	2.275	0.46396	D	0.999025	P	0.34615	0.459	B	0.29942	0.109	T	0.59413	-0.7459	10	0.27785	T	0.31	.	8.7254	0.34467	0.9094:0.0:0.0906:0.0	.	193	P35243	RECO_HUMAN	E	193	ENSP00000226193:V193E	ENSP00000226193:V193E	V	-	2	0	RCVRN	9742162	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.310000	0.65780	2.086000	0.62901	0.533000	0.62120	GTG	.		0.478	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	
MYH2	4620	mdanderson.org	37	17	10432658	10432658	+	Silent	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:10432658G>C	ENST00000245503.5	-	25	3642	c.3258C>G	c.(3256-3258)ctC>ctG	p.L1086L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.L1086L|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1086					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						CTTACTTTTTGAGCTTTTCAT	0.363																																					p.L1086L		.											.	MYH2-194	0			c.C3258G						.						147.0	136.0	140.0					17																	10432658		2203	4300	6503	SO:0001819	synonymous_variant	4620	exon25			CTTTTTGAGCTTT		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.3258C>G	17.37:g.10432658G>C		30	1		10	5	NM_017534	0	0	0	0	0	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																			.		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
TVP23B	51030	bcgsc.ca	37	17	18702220	18702220	+	Silent	SNP	T	T	C	rs8080471	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:18702220T>C	ENST00000307767.8	+	5	725	c.426T>C	c.(424-426)gcT>gcC	p.A142A	TVP23B_ENST00000574226.1_Silent_p.A142A|TVP23B_ENST00000581733.1_Silent_p.A78A|TVP23B_ENST00000476139.1_Silent_p.A78A	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	142						integral component of membrane (GO:0016021)											TGATATTTGCTTTTAGTGCAC	0.393													C|||	3393	0.677516	0.6165	0.7421	5008	,	,		16476	0.8284		0.7028	False		,,,				2504	0.5327				p.A142A		.											.	.	0			c.T426C						.	C		2771,1635	481.5+/-359.1	896,979,328	172.0	169.0	170.0		426	1.0	1.0	17	dbSNP_116	170	6002,2598	396.0+/-345.2	2141,1720,439	no	coding-synonymous	FAM18B1	NM_016078.4		3037,2699,767	CC,CT,TT		30.2093,37.1085,32.5465		142/206	18702220	8773,4233	2203	4300	6503	SO:0001819	synonymous_variant	51030	exon5			ATTTGCTTTTAGT	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.426T>C	17.37:g.18702220T>C		174	0		117	6	NM_016078	0	0	7	7	0	A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	CCDS42274.1																																																																																			T|0.313;C|0.687		0.393	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	
KCNJ12	3768	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	21319469	21319469	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:21319469A>T	ENST00000583088.1	+	3	1710	c.815A>T	c.(814-816)cAt>cTt	p.H272L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.H272L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	272					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)	ACCATCTTGCATGAGATTGAC	0.607										Prostate(3;0.18)																											p.H272L		.											.	.	0			c.A815T						.																																			SO:0001583	missense	100134444	exon3			TCTTGCATGAGAT	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.815A>T	17.37:g.21319469A>T	ENSP00000463778:p.His272Leu	383	0		390	89	NM_001194958	0	0	0	0	0	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070843	0.76301	.	.	ENSG00000184185	ENST00000331718	D	0.99660	-6.32	5.43	5.43	0.79202	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	0.99799	0.9914	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96761	0.9561	10	0.87932	D	0	.	15.4739	0.75461	1.0:0.0:0.0:0.0	.	272	Q14500	IRK12_HUMAN	L	272	ENSP00000328150:H272L	ENSP00000328150:H272L	H	+	2	0	KCNJ12	21260062	1.000000	0.71417	0.921000	0.36526	0.784000	0.44337	9.179000	0.94861	2.065000	0.61736	0.533000	0.62120	CAT	.		0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
TAOK1	57551	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	27807461	27807461	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:27807461G>T	ENST00000261716.3	+	7	1044	c.525G>T	c.(523-525)atG>atT	p.M175I	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTGCTTCCATGGCATCACCTG	0.413																																					p.M175I		.											.	TAOK1-521	0			c.G525T						.						105.0	91.0	96.0					17																	27807461		2203	4300	6503	SO:0001583	missense	57551	exon7			TTCCATGGCATCA	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.525G>T	17.37:g.27807461G>T	ENSP00000261716:p.Met175Ile	103	1		66	37	NM_025142	0	0	0	1	1	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	4.610	0.113428	0.08831	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.64803	-0.12;-0.12	5.21	4.0	0.46444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.30603	0.0770	N	0.10782	0.045	0.39020	D	0.959728	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.38373	-0.9664	10	0.02654	T	1	.	2.9888	0.05977	0.2378:0.2699:0.4923:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	I	175	ENSP00000261716:M175I;ENSP00000438819:M175I	ENSP00000261716:M175I	M	+	3	0	TAOK1	24831587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.566000	0.36396	2.599000	0.87857	0.585000	0.79938	ATG	.		0.413	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791	
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29560226	29560226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:29560226C>T	ENST00000358273.4	+	27	4086	c.3703C>T	c.(3703-3705)Cag>Tag	p.Q1235*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1235*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1235	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTGTTCTCAGTGGGTAAG	0.433			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.Q1235X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	c.C3703T	GRCh37	CM041403	NF1	M		.						92.0	83.0	86.0					17																	29560226		2203	4300	6503	SO:0001587	stop_gained	4763	exon27	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	TGTTCTCAGTGGG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3703C>T	17.37:g.29560226C>T	ENSP00000351015:p.Gln1235*	93	0		100	66	NM_000267	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	47	13.345434	0.99736	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.52	5.52	0.82312	.	0.062221	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.4415	0.94823	0.0:1.0:0.0:0.0	.	.	.	.	X	1235;1235;901	.	ENSP00000348498:Q1235X	Q	+	1	0	NF1	26584352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.596000	0.87737	0.555000	0.69702	CAG	.		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLFN14	342618	broad.mit.edu;bcgsc.ca	37	17	33881631	33881631	+	Missense_Mutation	SNP	T	T	C	rs321612	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:33881631T>C	ENST00000415846.3	-	2	1188	c.1153A>G	c.(1153-1155)Aaa>Gaa	p.K385E	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	385			K -> E (in dbSNP:rs321612). {ECO:0000269|PubMed:15489334}.				ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						TCCTTAAATTTGTGGACTTTT	0.418													C|||	3141	0.627196	0.7163	0.6556	5008	,	,		10937	0.6885		0.5805	False		,,,				2504	0.4714				p.K385E		.											.	SLFN14-1	0			c.A1153G						.	C	GLU/LYS	957,427		326,305,61	95.0	82.0	86.0		1153	1.5	0.9	17	dbSNP_79	86	1920,1262		577,766,248	yes	missense	SLFN14	NM_001129820.1	56	903,1071,309	CC,CT,TT		39.6606,30.8526,36.9908	benign	385/913	33881631	2877,1689	692	1591	2283	SO:0001583	missense	342618	exon2			TAAATTTGTGGAC		CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.1153A>G	17.37:g.33881631T>C	ENSP00000391101:p.Lys385Glu	99	1		74	5	NM_001129820	0	0	0	0	0	B2RTW9	Missense_Mutation	SNP	ENST00000415846.3	37	CCDS45650.1	1406	0.6437728937728938	338	0.6869918699186992	245	0.6767955801104972	391	0.6835664335664335	432	0.5699208443271768	C	0.011	-1.728039	0.00694	0.691474	0.603394	ENSG00000236320	ENST00000415846	T	0.55052	0.54	4.88	1.51	0.23008	.	.	.	.	.	T	0.00012	0.0000	N	0.00170	-1.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	8	0.02654	T	1	-3.9053	5.1052	0.14781	0.0:0.4889:0.327:0.1842	rs321612;rs1280800;rs17550394;rs52824305;rs58358968;rs321612	385	P0C7P3	SLN14_HUMAN	E	385	ENSP00000391101:K385E	ENSP00000391101:K385E	K	-	1	0	SLFN14	30905744	0.015000	0.18098	0.902000	0.35471	0.003000	0.03518	0.169000	0.16641	0.336000	0.23639	-0.128000	0.14901	AAA	C|0.651;N|0.000		0.418	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1	NM_001129820	
PSMC5	5705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	61905533	61905533	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:61905533C>A	ENST00000310144.6	+	2	368	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PSMC5_ENST00000581882.1_Silent_p.L12L|PSMC5_ENST00000580864.1_Silent_p.L12L|FTSJ3_ENST00000580295.1_Intron|PSMC5_ENST00000375812.4_Silent_p.L12L|FTSJ3_ENST00000427159.2_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	20					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 programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GCAGCGGACTCCGCCAATATT	0.537																																					p.L20L		.											.	PSMC5-178	0			c.C60A						.						65.0	65.0	65.0					17																	61905533		2203	4300	6503	SO:0001819	synonymous_variant	5705	exon2			CGGACTCCGCCAA	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.60C>A	17.37:g.61905533C>A		81	0		125	97	NM_002805	0	0	5	136	131	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	CCDS11645.1																																																																																			.		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
SPHK1	8877	hgsc.bcm.edu	37	17	74381720	74381720	+	5'UTR	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:74381720G>A	ENST00000545180.1	+	0	804				SPHK1_ENST00000592299.1_5'UTR|SPHK1_ENST00000323374.4_Missense_Mutation_p.E85K|SPHK1_ENST00000392496.3_5'UTR|SPHK1_ENST00000590959.1_5'UTR			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1						'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GCCGCGGGTCGAGGTTATGGA	0.677																																					p.E85K	GBM(90;966 1307 27369 33775 44498)	.											.	SPHK1-1107	0			c.G253A						.						7.0	12.0	11.0					17																	74381720		1939	3823	5762	SO:0001623	5_prime_UTR_variant	8877	exon2			CGGGTCGAGGTTA	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.-6G>A	17.37:g.74381720G>A		4	0		14	8	NM_182965	0	0	2	2	0	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	G	4.232	0.042006	0.08196	.	.	ENSG00000176170	ENST00000323374	T	0.21734	1.99	4.73	2.51	0.30379	.	1.810430	0.03513	N	0.219924	T	0.10380	0.0254	.	.	.	0.21020	N	0.999804	P	0.35700	0.516	B	0.23018	0.043	T	0.19484	-1.0304	9	0.06757	T	0.87	-4.8496	13.5747	0.61866	0.0:0.5761:0.4239:0.0	.	85	Q9NYA1-2	.	K	85	ENSP00000313681:E85K	ENSP00000313681:E85K	E	+	1	0	SPHK1	71893315	0.059000	0.20769	0.039000	0.18376	0.089000	0.18198	0.209000	0.17435	0.292000	0.22492	0.205000	0.17691	GAG	.		0.677	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972	
P4HB	5034	hgsc.bcm.edu	37	17	79818287	79818287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:79818287C>A	ENST00000331483.4	-	1	283	c.61G>T	c.(61-63)Gag>Tag	p.E21*	P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Nonsense_Mutation_p.E21*|P4HB_ENST00000576390.1_Nonsense_Mutation_p.E21*	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	21	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.			E -> D (in Ref. 13; AA sequence). {ECO:0000305}.	cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCCTCCTCGGGGGCGTCG	0.721																																					p.E21X	Colon(49;444 983 1296 7887 42561)	.											.	P4HB-46	0			c.G61T						.						6.0	6.0	6.0					17																	79818287		1875	3637	5512	SO:0001587	stop_gained	5034	exon1			CCTCCTCGGGGGC	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.61G>T	17.37:g.79818287C>A	ENSP00000327801:p.Glu21*	5	0		48	22	NM_000918	0	0	83	97	14	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Nonsense_Mutation	SNP	ENST00000331483.4	37	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815141	0.90790	.	.	ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463	.	.	.	4.9	2.87	0.33458	.	1.149430	0.06606	N	0.754768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	11.1889	0.48673	0.0:0.8446:0.0:0.1554	.	.	.	.	X	21	.	ENSP00000327801:E21X	E	-	1	0	P4HB	77411576	0.246000	0.23909	0.080000	0.20451	0.137000	0.21094	1.636000	0.37144	1.064000	0.40671	-0.291000	0.09656	GAG	.		0.721	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	
ASXL3	80816	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	31158619	31158619	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:31158619G>T	ENST00000269197.5	+	1	24	c.24G>T	c.(22-24)aaG>aaT	p.K8N	RP11-258B16.1_ENST00000591558.1_lincRNA	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	8					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGAAGAAGAAGGACCGCACCT	0.687																																					p.K8N		.											.	ASXL3-49	0			c.G24T						.						24.0	33.0	30.0					18																	31158619		1931	4139	6070	SO:0001583	missense	80816	exon1			GAAGAAGGACCGC	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.24G>T	18.37:g.31158619G>T	ENSP00000269197:p.Lys8Asn	43	0		105	61	NM_030632	0	0	0	0	0	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	g	10.10	1.256590	0.22965	.	.	ENSG00000141431	ENST00000269197	T	0.34667	1.35	2.19	2.19	0.27852	.	.	.	.	.	T	0.49389	0.1554	L	0.49778	1.585	0.30516	N	0.768947	D	0.64830	0.994	P	0.62885	0.908	T	0.52487	-0.8569	9	0.72032	D	0.01	.	11.9258	0.52819	0.0:0.0:1.0:0.0	.	8	Q9C0F0	ASXL3_HUMAN	N	8	ENSP00000269197:K8N	ENSP00000269197:K8N	K	+	3	2	ASXL3	29412617	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.347000	0.59373	1.042000	0.40150	0.399000	0.26434	AAG	.		0.687	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
SETBP1	26040	mdanderson.org	37	18	42530098	42530098	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42530098G>T	ENST00000282030.5	+	4	1089	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	265						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGGCCCAGGGTAAGAAAGG	0.537									Schinzel-Giedion syndrome																												p.G265C		.											.	SETBP1-155	0			c.G793T						.						83.0	82.0	82.0					18																	42530098		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	GCCCAGGGTAAGA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.793G>T	18.37:g.42530098G>T	ENSP00000282030:p.Gly265Cys	24	1		14	9	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065549	0.36470	.	.	ENSG00000152217	ENST00000282030	T	0.36340	1.26	5.61	3.75	0.43078	.	0.328672	0.31685	N	0.007224	T	0.22126	0.0533	N	0.19112	0.55	0.25871	N	0.983706	B	0.10296	0.003	B	0.09377	0.004	T	0.15321	-1.0441	10	0.52906	T	0.07	.	7.7403	0.28837	0.0739:0.0:0.5161:0.4099	.	265	Q9Y6X0	SETBP_HUMAN	C	265	ENSP00000282030:G265C	ENSP00000282030:G265C	G	+	1	0	SETBP1	40784096	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.465000	0.22004	0.775000	0.33450	0.655000	0.94253	GGT	.		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	42531994	42531994	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42531994T>A	ENST00000282030.5	+	4	2985	c.2689T>A	c.(2689-2691)Tgc>Agc	p.C897S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	897						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTTTGATTTCTGCTCCCTGGA	0.557									Schinzel-Giedion syndrome																												p.C897S		.											.	SETBP1-155	0			c.T2689A						.						47.0	34.0	38.0					18																	42531994		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	GATTTCTGCTCCC	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2689T>A	18.37:g.42531994T>A	ENSP00000282030:p.Cys897Ser	72	0		47	26	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818163	0.50633	.	.	ENSG00000152217	ENST00000282030	D	0.89552	-2.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	N	0.12182	0.205	0.42266	D	0.992032	D	0.76494	0.999	D	0.71414	0.973	D	0.91683	0.5360	10	0.72032	D	0.01	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	897	Q9Y6X0	SETBP_HUMAN	S	897	ENSP00000282030:C897S	ENSP00000282030:C897S	C	+	1	0	SETBP1	40785992	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.160000	0.71862	2.371000	0.80710	0.533000	0.62120	TGC	.		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	42532100	42532100	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:42532100G>T	ENST00000282030.5	+	4	3091	c.2795G>T	c.(2794-2796)aGc>aTc	p.S932I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	932						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCCCACGAAAGCCTCAAGAAG	0.542									Schinzel-Giedion syndrome																												p.S932I		.											.	SETBP1-155	0			c.G2795T						.						43.0	44.0	44.0					18																	42532100		2203	4300	6503	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	ACGAAAGCCTCAA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2795G>T	18.37:g.42532100G>T	ENSP00000282030:p.Ser932Ile	64	0		18	10	NM_015559	0	0	0	0	0	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494313	0.44352	.	.	ENSG00000152217	ENST00000282030	D	0.90004	-2.6	6.17	6.17	0.99709	.	0.041854	0.85682	D	0.000000	D	0.82879	0.5133	N	0.08118	0	0.36558	D	0.872269	P	0.49090	0.919	P	0.46275	0.51	D	0.87592	0.2491	10	0.62326	D	0.03	.	17.0531	0.86525	0.0:0.1266:0.8734:0.0	.	932	Q9Y6X0	SETBP_HUMAN	I	932	ENSP00000282030:S932I	ENSP00000282030:S932I	S	+	2	0	SETBP1	40786098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.052000	0.64263	2.941000	0.99782	0.655000	0.94253	AGC	.		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SERPINB11	89778	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	61390440	61390440	+	RNA	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr18:61390440C>G	ENST00000382749.5	+	0	1231				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTATATTTATCAAAAGCCATC	0.483																																					.	Ovarian(27;496 784 5942 8975 23930)	.											.	SERPINB11-67	0			.						.						46.0	46.0	46.0					18																	61390440		2187	4299	6486			89778	.			ATTTATCAAAAGC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390440C>G		174	1		125	70	.	0	0	0	0	0	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037009	0.93630	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	.	.	.	5.05	5.05	0.67936	.	0.139968	0.33180	N	0.005187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7553	0.88446	0.0:1.0:0.0:0.0	.	.	.	.	X	329;127;154	.	ENSP00000421854:S329X	S	+	2	0	SERPINB11	59541420	1.000000	0.71417	0.791000	0.31998	0.168000	0.22595	5.762000	0.68809	2.488000	0.83962	0.655000	0.94253	TCA	.		0.483	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
ODF3L2	284451	hgsc.bcm.edu	37	19	464080	464080	+	Missense_Mutation	SNP	C	C	T	rs76592524	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:464080C>T	ENST00000315489.4	-	4	869	c.634G>A	c.(634-636)Gca>Aca	p.A212T	ODF3L2_ENST00000382696.3_Missense_Mutation_p.A176T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	212	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TAGGTGTTTGCGTCCGGGCTG	0.761													c|||	141	0.028155	0.0772	0.0115	5008	,	,		8891	0.0		0.0209	False		,,,				2504	0.0102				p.A212T		.											.	ODF3L2-68	0			c.G634A						.	C	THR/ALA	235,3897		7,221,1838	6.0	7.0	7.0		634	2.7	1.0	19	dbSNP_131	7	183,7779		1,181,3799	yes	missense	ODF3L2	NM_182577.2	58	8,402,5637	TT,TC,CC		2.2984,5.6873,3.4563	benign	212/290	464080	418,11676	2066	3981	6047	SO:0001583	missense	284451	exon4			TGTTTGCGTCCGG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.634G>A	19.37:g.464080C>T	ENSP00000318029:p.Ala212Thr	0	0		7	5	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	CCDS12027.1	67	0.030677655677655676	45	0.09146341463414634	4	0.011049723756906077	0	0.0	18	0.023746701846965697	C	10.93	1.489764	0.26686	0.056873	0.022984	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.30182	1.54;1.54	3.81	2.74	0.32292	.	0.117336	0.64402	D	0.000018	T	0.00496	0.0016	N	0.08118	0	0.25934	N	0.982953	B;B	0.22800	0.021;0.075	B;B	0.18561	0.003;0.022	T	0.16070	-1.0415	10	0.19147	T	0.46	-11.8847	11.3724	0.49708	0.0:0.1897:0.8103:0.0	.	176;212	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	212;176	ENSP00000318029:A212T;ENSP00000372143:A176T	ENSP00000318029:A212T	A	-	1	0	ODF3L2	415080	1.000000	0.71417	0.987000	0.45799	0.058000	0.15608	5.564000	0.67359	0.718000	0.32166	-0.281000	0.10026	GCA	C|0.969;T|0.031		0.761	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
GRIN3B	116444	broad.mit.edu	37	19	1008889	1008889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1008889G>T	ENST00000234389.3	+	8	2684	c.2665G>T	c.(2665-2667)Gag>Tag	p.E889*		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	889					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGAGCCACCAGAGGGGTCGAA	0.711																																					p.E889X		.											.	GRIN3B-90	0			c.G2665T						.																																			SO:0001587	stop_gained	116444	exon8			CCACCAGAGGGGT		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2665G>T	19.37:g.1008889G>T	ENSP00000234389:p.Glu889*	77	0		118	4	NM_138690	0	0	2	2	0	Q5EAK7|Q7RTW9	Nonsense_Mutation	SNP	ENST00000234389.3	37	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380020	0.95945	.	.	ENSG00000116032	ENST00000234389	.	.	.	3.46	1.05	0.20165	.	0.805472	0.10737	U	0.639927	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.3048	0.21133	0.1058:0.3647:0.5295:0.0	.	.	.	.	X	889	.	ENSP00000234389:E889X	E	+	1	0	GRIN3B	959889	0.011000	0.17503	0.000000	0.03702	0.012000	0.07955	0.153000	0.16323	0.069000	0.16605	-0.482000	0.04802	GAG	.		0.711	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
STK11	6794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1220640	1220640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1220640C>T	ENST00000326873.7	+	5	1831	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Q220*(4)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTTTCCAGCCGCCCGA	0.711		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																											p.Q220X		.	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	.	STK11-5227	26	Whole gene deletion(20)|Substitution - Nonsense(4)|Unknown(2)	cervix(14)|lung(8)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	c.C658T	GRCh37	CM991157	STK11	M		.						13.0	18.0	17.0					19																	1220640		1947	4128	6075	SO:0001587	stop_gained	6794	exon5	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	GCTTTCCAGCCGC	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.658C>T	19.37:g.1220640C>T	ENSP00000324856:p.Gln220*	28	0		73	48	NM_000455	0	0	8	14	6	B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	37	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	48	14.216541	0.99785	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-51.9112	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000324856:Q220X	Q	+	1	0	STK11	1171640	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.712000	0.84684	2.644000	0.89710	0.561000	0.74099	CAG	.		0.711	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	
ADAT3	113179	hgsc.bcm.edu	37	19	1912163	1912163	+	Silent	SNP	G	G	A	rs199915192	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:1912163G>A	ENST00000602400.1	+	2	297	c.69G>A	c.(67-69)ccG>ccA	p.P23P	SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000329478.2_Silent_p.P39P			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	23					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		AGCCTGAGCCGGCGCCGTGGC	0.716													G|||	7	0.00139776	0.0	0.0029	5008	,	,		11352	0.0		0.005	False		,,,				2504	0.0				p.P39P		.											.	ADAT3-154	0			c.G117A						.	G	,	2,4298		0,2,2148	7.0	9.0	8.0		,69	-8.4	0.0	19		8	46,8388		0,46,4171	no	intron,coding-synonymous	SCAMP4,ADAT3	NM_079834.2,NM_138422.1	,	0,48,6319	AA,AG,GG		0.5454,0.0465,0.3769	,	,23/352	1912163	48,12686	2150	4217	6367	SO:0001819	synonymous_variant	113179	exon2			TGAGCCGGCGCCG	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.69G>A	19.37:g.1912163G>A		1	0		27	22	NM_138422	0	0	0	0	0		Silent	SNP	ENST00000602400.1	37																																																																																				G|0.996;A|0.004		0.716	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422	
S1PR4	8698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	3179663	3179663	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:3179663G>T	ENST00000246115.3	+	1	928	c.873G>T	c.(871-873)tgG>tgT	p.W291C		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	291					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|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)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCATGGACTGGATCCTGGCCC	0.657																																					p.W291C	GBM(82;318 1638 33279 49708)	.											.	S1PR4-591	0			c.G873T						.						84.0	82.0	83.0					19																	3179663		2203	4300	6503	SO:0001583	missense	8698	exon1			GGACTGGATCCTG	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.873G>T	19.37:g.3179663G>T	ENSP00000246115:p.Trp291Cys	103	0		121	68	NM_003775	0	0	3	3	0	D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369733	0.61624	.	.	ENSG00000125910	ENST00000246115	T	0.36878	1.23	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.218873	0.41396	D	0.000888	T	0.61489	0.2351	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.69101	-0.5234	10	0.87932	D	0	.	15.1914	0.73047	0.0:0.0:1.0:0.0	.	291	O95977	S1PR4_HUMAN	C	291	ENSP00000246115:W291C	ENSP00000246115:W291C	W	+	3	0	S1PR4	3130663	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.552000	0.53705	1.923000	0.55706	0.462000	0.41574	TGG	.		0.657	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775	
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9059570	9059570	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9059570C>G	ENST00000397910.4	-	3	28079	c.27876G>C	c.(27874-27876)gaG>gaC	p.E9292D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9294	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						AGATGCTGGTCTCCATCAACC	0.498																																					p.E9292D		.											.	MUC16-566	0			c.G27876C						.						152.0	148.0	149.0					19																	9059570		2007	4190	6197	SO:0001583	missense	94025	exon3			GCTGGTCTCCATC	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.27876G>C	19.37:g.9059570C>G	ENSP00000381008:p.Glu9292Asp	120	1		78	39	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.317	0.426615	0.11987	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.65	-3.84	0.04256	.	.	.	.	.	T	0.01835	0.0058	N	0.17082	0.46	.	.	.	B	0.19817	0.039	B	0.20184	0.028	T	0.46303	-0.9201	8	0.87932	D	0	.	3.7203	0.08453	0.0:0.2841:0.3018:0.414	.	9292	B5ME49	.	D	9292	ENSP00000381008:E9292D	ENSP00000381008:E9292D	E	-	3	2	MUC16	8920570	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.397000	0.02511	-0.713000	0.04981	0.461000	0.40582	GAG	.		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	9060440	9060440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9060440delG	ENST00000397910.4	-	3	27209	c.27006delC	c.(27004-27006)cccfs	p.P9002fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9004	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						CCCTTGGTGTGGGGGTCAGGG	0.502																																					p.P9002fs		.											.	MUC16-566	0			c.27006delC						.						140.0	134.0	136.0					19																	9060440		2092	4217	6309	SO:0001589	frameshift_variant	94025	exon3			TGGTGTGGGGGTC	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.27006delC	19.37:g.9060440delG	ENSP00000381008:p.Pro9002fs	169	0		135	73	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																			.		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9071377	9071377	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9071377T>A	ENST00000397910.4	-	3	16272	c.16069A>T	c.(16069-16071)Agc>Tgc	p.S5357C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5359	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						GAGGGGATGCTCTGTGGTGAT	0.527																																					p.S5357C		.											.	MUC16-566	0			c.A16069T						.						148.0	147.0	147.0					19																	9071377		2066	4209	6275	SO:0001583	missense	94025	exon3			GGATGCTCTGTGG	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.16069A>T	19.37:g.9071377T>A	ENSP00000381008:p.Ser5357Cys	191	0		158	101	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.785	-0.252686	0.05829	.	.	ENSG00000181143	ENST00000397910	T	0.27104	1.69	2.12	-1.63	0.08345	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	.	.	.	D	0.55605	0.972	P	0.50192	0.634	T	0.20405	-1.0276	8	0.87932	D	0	.	3.0333	0.06113	0.0:0.3597:0.2508:0.3895	.	5357	B5ME49	.	C	5357	ENSP00000381008:S5357C	ENSP00000381008:S5357C	S	-	1	0	MUC16	8932377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	-0.480000	0.06803	-0.844000	0.03045	AGC	.		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9080534	9080534	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:9080534G>T	ENST00000397910.4	-	2	9700	c.9497C>A	c.(9496-9498)aCc>aAc	p.T3166N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3167	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						CTTTATGGTGGTCACTAGCGT	0.463																																					p.T3166N		.											.	MUC16-566	0			c.C9497A						.						145.0	137.0	140.0					19																	9080534		1945	4150	6095	SO:0001583	missense	94025	exon2			ATGGTGGTCACTA	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.9497C>A	19.37:g.9080534G>T	ENSP00000381008:p.Thr3166Asn	123	0		124	74	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.266	-0.368211	0.05069	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	1.12	1.12	0.20585	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.28324	0.207	B	0.20955	0.032	T	0.35968	-0.9767	8	0.87932	D	0	.	5.6001	0.17349	0.0:0.0:1.0:0.0	.	3166	B5ME49	.	N	3166	ENSP00000381008:T3166N	ENSP00000381008:T3166N	T	-	2	0	MUC16	8941534	0.181000	0.23161	0.009000	0.14445	0.019000	0.09904	1.402000	0.34600	0.898000	0.36418	0.313000	0.20887	ACC	.		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
EMR3	84658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	14749012	14749012	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:14749012C>A	ENST00000253673.5	-	11	1489	c.1389G>T	c.(1387-1389)atG>atT	p.M463I	EMR3_ENST00000599900.1_Missense_Mutation_p.M248I|EMR3_ENST00000443157.2_Missense_Mutation_p.M337I|EMR3_ENST00000344373.4_Missense_Mutation_p.M411I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	463					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						TGATCCACTTCATGAGTCTAT	0.557																																					p.M463I		.											.	EMR3-528	0			c.G1389T						.						190.0	145.0	161.0					19																	14749012		2203	4300	6503	SO:0001583	missense	84658	exon11			CCACTTCATGAGT	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.1389G>T	19.37:g.14749012C>A	ENSP00000253673:p.Met463Ile	274	0		220	15	NM_032571	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564261	0.27915	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.34859	1.34;1.34;1.34	4.34	0.847	0.18961	GPCR, family 2-like (1);	.	.	.	.	T	0.37433	0.1003	L	0.41415	1.275	0.09310	N	1	P;P;P	0.48350	0.909;0.894;0.535	P;P;B	0.55222	0.771;0.688;0.425	T	0.18681	-1.0329	9	0.59425	D	0.04	.	3.2536	0.06823	0.1601:0.3828:0.3593:0.0978	.	337;411;463	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	I	337;463;411	ENSP00000396208:M337I;ENSP00000253673:M463I;ENSP00000340758:M411I	ENSP00000253673:M463I	M	-	3	0	EMR3	14610012	0.003000	0.15002	0.320000	0.25306	0.073000	0.16967	0.102000	0.15272	0.090000	0.17273	0.650000	0.86243	ATG	.		0.557	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
CPAMD8	27151	bcgsc.ca	37	19	17108135	17108135	+	Missense_Mutation	SNP	C	C	T	rs3745340	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17108135C>T	ENST00000443236.1	-	11	1053	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	CPAMD8_ENST00000388925.4_Missense_Mutation_p.R294Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	294						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTCGAAGTCCCGGGAGCCGAG	0.607													c|||	1649	0.329273	0.1649	0.353	5008	,	,		19240	0.5		0.3976	False		,,,				2504	0.2883				p.R341Q		.											.	CPAMD8-141	0			c.G1022A						.	C	GLN/ARG	795,3235		79,637,1299	13.0	15.0	14.0		1022	-3.8	0.8	19	dbSNP_107	14	3138,5204		619,1900,1652	no	missense	CPAMD8	NM_015692.2	43	698,2537,2951	TT,TC,CC		37.6169,19.727,31.7895	possibly-damaging	341/1933	17108135	3933,8439	2015	4171	6186	SO:0001583	missense	27151	exon11			AAGTCCCGGGAGC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1022G>A	19.37:g.17108135C>T	ENSP00000402505:p.Arg341Gln	318	2		329	11	NM_015692	0	0	0	0	0	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	815|815	0.3731684981684982|0.3731684981684982	87|87	0.17682926829268292|0.17682926829268292	147|147	0.40607734806629836|0.40607734806629836	276|276	0.4825174825174825|0.4825174825174825	305|305	0.4023746701846966|0.4023746701846966	c|c	9.619|9.619	1.133286|1.133286	0.21041|0.21041	0.19727|0.19727	0.376169|0.376169	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.51325	.|0.71;0.72	3.0|3.0	-3.79|-3.79	0.04320|0.04320	.|.	.|0.186387	.|0.32488	.|N	.|0.006027	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00707|0.00707	-1.245|-1.245	0.51767|0.51767	P|P	6.799999999995698E-5|6.799999999995698E-5	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.47315|0.47315	-0.9127|-0.9127	4|9	.|0.25751	.|T	.|0.34	.|.	6.6288|6.6288	0.22845|0.22845	0.0:0.38:0.371:0.2489|0.0:0.38:0.371:0.2489	rs3745340;rs57931423;rs3745340|rs3745340;rs57931423;rs3745340	.|294	.|Q8IZJ3	.|CPMD8_HUMAN	R|Q	352|341;294	.|ENSP00000291440:R341Q;ENSP00000373577:R294Q	.|ENSP00000291440:R341Q	G|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16969135|16969135	0.997000|0.997000	0.39634|0.39634	0.786000|0.786000	0.31890|0.31890	0.743000|0.743000	0.42351|0.42351	2.354000|2.354000	0.44098|0.44098	-0.514000|-0.514000	0.06488|0.06488	-0.417000|-0.417000	0.06048|0.06048	GGG|CGG	C|0.647;T|0.353		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
SLC27A1	376497	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	17598000	17598000	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17598000G>T	ENST00000252595.7	+	3	677	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	SLC27A1_ENST00000442725.1_Missense_Mutation_p.G194W|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.G15W	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	194	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGAAGTGAGCGGGCATCTGGG	0.657																																					p.G194W		.											.	SLC27A1-226	0			c.G580T						.						78.0	83.0	81.0					19																	17598000		2203	4300	6503	SO:0001583	missense	376497	exon3			GTGAGCGGGCATC	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.580G>T	19.37:g.17598000G>T	ENSP00000252595:p.Gly194Trp	38	0		48	38	NM_198580	0	0	0	0	0	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466215	0.26335	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.42131	0.98;0.98	4.12	1.8	0.24995	AMP-dependent synthetase/ligase (1);	1.269260	0.05399	N	0.540367	T	0.56688	0.2002	L	0.61036	1.89	0.09310	N	1	D;D	0.61697	0.957;0.99	P;P	0.59357	0.856;0.856	T	0.33979	-0.9847	10	0.72032	D	0.01	.	7.091	0.25283	0.0:0.3634:0.45:0.1866	.	15;194	B7Z662;Q6PCB7	.;S27A1_HUMAN	W	194;194;56	ENSP00000413424:G194W;ENSP00000252595:G194W	ENSP00000252595:G194W	G	+	1	0	SLC27A1	17459000	0.000000	0.05858	0.081000	0.20488	0.255000	0.26057	0.722000	0.25925	0.326000	0.23384	0.462000	0.41574	GGG	.		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
SLC5A5	6528	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	17994715	17994715	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:17994715C>A	ENST00000222248.3	+	12	1733	c.1386C>A	c.(1384-1386)ggC>ggA	p.G462G		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	462					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGCCTTGGGCGCCACGCTGT	0.721																																					p.G462G	Melanoma(65;1008 1708 7910 46650)	.											.	SLC5A5-93	0			c.C1386A						.						8.0	7.0	8.0					19																	17994715		2155	4214	6369	SO:0001819	synonymous_variant	6528	exon12			CTTGGGCGCCACG		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1386C>A	19.37:g.17994715C>A		10	0		44	27	NM_000453	0	0	0	0	0	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																			.		0.721	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
ZNF536	9745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	30935331	30935331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:30935331G>T	ENST00000355537.3	+	2	1009	c.862G>T	c.(862-864)Gag>Tag	p.E288*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	288					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)					GAAGCGCGAGGAGCTGGACCG	0.652																																					p.E288X		.											.	ZNF536-144	0			c.G862T						.						37.0	42.0	40.0					19																	30935331		2202	4300	6502	SO:0001587	stop_gained	9745	exon2			CGCGAGGAGCTGG		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.862G>T	19.37:g.30935331G>T	ENSP00000347730:p.Glu288*	17	0		55	26	NM_014717	0	0	0	0	0	A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	37	6.366846	0.97511	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-40.2727	19.8172	0.96573	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000347730:E288X	E	+	1	0	ZNF536	35627171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.440000	0.97547	2.702000	0.92279	0.491000	0.48974	GAG	.		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
PDCD5	9141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	33078192	33078192	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:33078192G>C	ENST00000590247.2	+	6	558	c.364G>C	c.(364-366)Gat>Cat	p.D122H	PDCD5_ENST00000586035.1_Missense_Mutation_p.D84H|PDCD5_ENST00000379316.3_3'UTR|PDCD5_ENST00000592786.1_3'UTR|PDCD5_ENST00000419343.3_3'UTR	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	122					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D122H(1)		breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTCTGATGAAGATGACGATTA	0.333																																					p.D122H		.											.	PDCD5-228	1	Substitution - Missense(1)	breast(1)	c.G364C						.						91.0	90.0	91.0					19																	33078192		2203	4300	6503	SO:0001583	missense	9141	exon6			GATGAAGATGACG	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.364G>C	19.37:g.33078192G>C	ENSP00000466214:p.Asp122His	304	1		317	150	NM_004708	0	0	183	348	165	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244486	0.79912	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.31	5.31	0.75309	.	0.238860	0.48767	D	0.000165	T	0.80618	0.4657	M	0.92026	3.265	0.80722	D	1	P	0.41313	0.745	P	0.46629	0.522	D	0.84991	0.0894	9	0.87932	D	0	.	18.9373	0.92590	0.0:0.0:1.0:0.0	.	122	O14737	PDCD5_HUMAN	H	122	.	ENSP00000221784:D122H	D	+	1	0	PDCD5	37770032	1.000000	0.71417	0.991000	0.47740	0.739000	0.42172	7.923000	0.87546	2.646000	0.89796	0.467000	0.42956	GAT	.		0.333	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708	
HAUS5	23354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36110596	36110596	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:36110596G>A	ENST00000203166.5	+	15	1367	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	448					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCGCTGTCTGGAGGAGGAAGT	0.657																																					p.E448K		.											.	HAUS5-68	0			c.G1342A						.						23.0	26.0	25.0					19																	36110596		2118	4243	6361	SO:0001583	missense	23354	exon15			TGTCTGGAGGAGG	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1342G>A	19.37:g.36110596G>A	ENSP00000439056:p.Glu448Lys	145	0		235	68	NM_015302	0	0	2	5	3	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	7.256	0.604249	0.14002	.	.	ENSG00000249115	ENST00000203166	T	0.30448	1.53	4.5	2.3	0.28687	.	0.590118	0.17945	N	0.156709	T	0.14356	0.0347	N	0.14661	0.345	0.33214	D	0.553748	B	0.09022	0.002	B	0.11329	0.006	T	0.21449	-1.0245	10	0.16896	T	0.51	-18.1804	5.34	0.15979	0.1159:0.2081:0.676:0.0	.	448	O94927	HAUS5_HUMAN	K	448	ENSP00000439056:E448K	ENSP00000439056:E448K	E	+	1	0	HAUS5	40802436	0.998000	0.40836	0.960000	0.40013	0.157000	0.22087	1.931000	0.40134	0.475000	0.27415	0.561000	0.74099	GAG	.		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2		
LRFN3	79414	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36435463	36435463	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:36435463G>A	ENST00000588831.1	+	4	2483	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Missense_Mutation_p.E477K			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	477	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATCCCGGCGGAGAGCCGCTC	0.687																																					p.E477K		.											.	LRFN3-90	0			c.G1429A						.						10.0	12.0	11.0					19																	36435463		2195	4273	6468	SO:0001583	missense	79414	exon3			CCGGCGGAGAGCC	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1429G>A	19.37:g.36435463G>A	ENSP00000466989:p.Glu477Lys	18	0		78	26	NM_024509	0	0	3	5	2	Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332288	0.24167	.	.	ENSG00000126243	ENST00000246529	T	0.04502	3.61	4.89	2.7	0.31948	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.404524	0.18180	N	0.149175	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.29077	0.098	T	0.43458	-0.9390	10	0.33141	T	0.24	.	3.6393	0.08161	0.1917:0.0:0.6013:0.207	.	477	Q9BTN0	LRFN3_HUMAN	K	477	ENSP00000246529:E477K	ENSP00000246529:E477K	E	+	1	0	LRFN3	41127303	0.008000	0.16893	0.957000	0.39632	0.099000	0.18886	0.714000	0.25808	1.012000	0.39366	0.313000	0.20887	GAG	.		0.687	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509	
ZNF567	163081	broad.mit.edu;bcgsc.ca	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C			Q8N184	ZN567_HUMAN	zinc finger protein 567	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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433																																					p.R428C		.											.	ZNF567-90	0			c.C1282T						.						75.0	79.0	78.0					19																	37211001		2203	4300	6503	SO:0001583	missense	163081	exon4			TCCTTCCGCCAGA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1375C>T	19.37:g.37211001C>T	ENSP00000441838:p.Arg459Cys	85	0		126	6	NM_152603	0	0	5	5	0	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC	.		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF383	163087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	37734341	37734341	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:37734341G>T	ENST00000589413.1	+	8	1786	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N	ZNF383_ENST00000590503.1_Missense_Mutation_p.K401N|ZNF383_ENST00000352998.3_Missense_Mutation_p.K401N			Q8NA42	ZN383_HUMAN	zinc finger protein 383	401					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGGCCTTTACTC	0.398																																					p.K401N		.											.	ZNF383-92	0			c.G1203T						.						53.0	55.0	54.0					19																	37734341		2203	4300	6503	SO:0001583	missense	163087	exon5			TGGGAAGGCCTTT	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1203G>T	19.37:g.37734341G>T	ENSP00000464871:p.Lys401Asn	74	0		55	25	NM_152604	0	0	3	8	5	Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715878	0.48622	.	.	ENSG00000188283	ENST00000352998	T	0.27890	1.64	3.62	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33364	N	0.004984	T	0.54967	0.1891	M	0.89534	3.04	0.22142	N	0.999332	D	0.76494	0.999	D	0.85130	0.997	T	0.44772	-0.9306	10	0.87932	D	0	.	5.6597	0.17662	0.4106:0.0:0.5894:0.0	.	401	Q8NA42	ZN383_HUMAN	N	401	ENSP00000340132:K401N	ENSP00000340132:K401N	K	+	3	2	ZNF383	42426181	0.005000	0.15991	1.000000	0.80357	0.990000	0.78478	-0.181000	0.09740	0.232000	0.21100	0.563000	0.77884	AAG	.		0.398	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604	
ZNF793	390927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38027960	38027960	+	Nonsense_Mutation	SNP	C	C	T	rs375136979		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:38027960C>T	ENST00000587143.1	+	6	635	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	ZNF793_ENST00000542455.1_Nonsense_Mutation_p.Q134*|ZNF793_ENST00000589319.1_Nonsense_Mutation_p.Q134*|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000445217.1_Nonsense_Mutation_p.Q134*			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTTCAATCCAGAGCCCTAG	0.368																																					p.Q134X	Melanoma(44;400 1431 1499 19093)	.											.	ZNF793-68	0			c.C400T						.	C	stop/GLN	0,3618		0,0,1809	60.0	57.0	58.0		400	1.8	0.2	19		58	1,8157		0,1,4078	no	stop-gained	ZNF793	NM_001013659.2		0,1,5887	TT,TC,CC		0.0123,0.0,0.0085		134/407	38027960	1,11775	1809	4079	5888	SO:0001587	stop_gained	390927	exon8			TCAATCCAGAGCC	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.400C>T	19.37:g.38027960C>T	ENSP00000468605:p.Gln134*	73	0		39	16	NM_001013659	0	0	0	0	0	E9PGN4|Q7Z3Q9	Nonsense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414719	0.83449	0.0	1.23E-4	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	.	.	.	4.15	1.75	0.24633	.	0.208510	0.24217	N	0.040461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.2465	0.37529	0.5208:0.4792:0.0:0.0	.	.	.	.	X	134;134;134;133	.	ENSP00000318811:Q133X	Q	+	1	0	ZNF793	42719800	0.868000	0.29978	0.167000	0.22817	0.445000	0.32107	1.096000	0.30976	1.034000	0.39945	0.655000	0.94253	CAG	.		0.368	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659	
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39019290	39019290	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:39019290G>A	ENST00000359596.3	+	75	10989	c.10989G>A	c.(10987-10989)ctG>ctA	p.L3663L	RYR1_ENST00000360985.3_Silent_p.L3663L|RYR1_ENST00000355481.4_Silent_p.L3658L|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3663					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)	CATGGATCCTGACTGAAGACC	0.617																																					p.L3663L		.											.	RYR1-100	0			c.G10989A						.						125.0	104.0	111.0					19																	39019290		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon75			GATCCTGACTGAA	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.10989G>A	19.37:g.39019290G>A		358	0		483	153	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39038919	39038919	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:39038919C>A	ENST00000359596.3	+	89	12141	c.12141C>A	c.(12139-12141)ctC>ctA	p.L4047L	RYR1_ENST00000360985.3_Silent_p.L4042L|RYR1_ENST00000355481.4_Silent_p.L4042L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4047					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)	TGGACATGCTCGTGGAATCCT	0.562																																					p.L4047L		.											.	RYR1-100	0			c.C12141A						.						178.0	127.0	144.0					19																	39038919		2203	4300	6503	SO:0001819	synonymous_variant	6261	exon89			CATGCTCGTGGAA	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.12141C>A	19.37:g.39038919C>A		261	1		398	153	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																			.		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PRX	57716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	40901699	40901699	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:40901699G>C	ENST00000324001.7	-	7	2830	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	854					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)			ACTGAAGGCAGAGTGAGAGAG	0.632																																					p.L854V		.											.	PRX-92	0			c.C2560G						.						69.0	73.0	71.0					19																	40901699		2203	4300	6503	SO:0001583	missense	57716	exon7			AAGGCAGAGTGAG	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.2560C>G	19.37:g.40901699G>C	ENSP00000326018:p.Leu854Val	69	0		82	28	NM_181882	0	0	0	0	0	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694816	0.15039	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01295	5.04	4.91	0.382	0.16234	.	0.000000	0.34580	N	0.003845	T	0.02571	0.0078	L	0.29908	0.895	0.40554	D	0.98114	D	0.71674	0.998	D	0.77557	0.99	T	0.63980	-0.6514	10	0.31617	T	0.26	-16.6997	3.9541	0.09382	0.3538:0.0:0.4896:0.1566	.	854	Q9BXM0	PRAX_HUMAN	V	854	ENSP00000326018:L854V	ENSP00000326018:L854V	L	-	1	2	PRX	45593539	0.051000	0.20477	0.243000	0.24186	0.065000	0.16274	0.164000	0.16542	-0.073000	0.12842	-0.126000	0.14955	CTG	.		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
GRIK5	2901	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	42507538	42507538	+	Silent	SNP	G	G	A	rs371522864	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:42507538G>A	ENST00000262895.3	-	18	2459	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	GRIK5_ENST00000593562.1_Silent_p.F820F|GRIK5_ENST00000301218.4_Silent_p.F820F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	820					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TGACCGCCACGAAGACAGCAA	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		12821	0.0		0.001	False		,,,				2504	0.001				p.F820F		.											.	GRIK5-90	0			c.C2460T						.	G		0,4406		0,0,2203	96.0	81.0	86.0		2460	-2.4	1.0	19		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		820/981	42507538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2901	exon18			CGCCACGAAGACA		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2460C>T	19.37:g.42507538G>A		99	0		215	13	NM_002088	0	0	0	0	0	Q8WWG8	Silent	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	9.197	1.027411	0.19512	0.0	1.16E-4	ENSG00000105737	ENST00000454993	.	.	.	4.31	-2.37	0.06643	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	.	5.6157	0.17430	0.4532:0.1365:0.4103:0.0	.	.	.	.	C	197	.	.	R	-	1	0	GRIK5	47199378	0.363000	0.24989	0.995000	0.50966	0.975000	0.68041	-0.165000	0.09968	-0.193000	0.10415	-0.367000	0.07326	CGT	.		0.592	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
CBLC	23624	hgsc.bcm.edu	37	19	45281452	45281452	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:45281452G>T	ENST00000270279.3	+	1	327	c.264G>T	c.(262-264)gaG>gaT	p.E88D	CBLC_ENST00000341505.4_Missense_Mutation_p.E88D	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	88	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCAATCTGGAGGCCAAGAGCA	0.706			M		AML																																p.E88D		.		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	.	CBLC-849	0			c.G264T						.						4.0	6.0	6.0					19																	45281452		1990	3915	5905	SO:0001583	missense	23624	exon1			TCTGGAGGCCAAG	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.264G>T	19.37:g.45281452G>T	ENSP00000270279:p.Glu88Asp	14	0		39	4	NM_001130852	0	0	0	0	0	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630601	0.28978	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76316	-1.01;-1.01	3.49	1.11	0.20524	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.248288	0.28327	N	0.015749	T	0.76990	0.4065	M	0.72479	2.2	0.27815	N	0.942017	D;P	0.56968	0.978;0.946	P;P	0.53912	0.736;0.737	T	0.65796	-0.6081	10	0.22109	T	0.4	-12.7846	4.3804	0.11291	0.1328:0.2347:0.6325:0.0	.	88;88	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	D	88	ENSP00000270279:E88D;ENSP00000340250:E88D	ENSP00000270279:E88D	E	+	3	2	CBLC	49973292	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	0.969000	0.29370	0.815000	0.34398	-0.265000	0.10407	GAG	.		0.706	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116	
APOE	348	hgsc.bcm.edu	37	19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	rs429358	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12.0	12.0	12.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3.0	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	1	0		33	12	NM_000041	0	0	70	135	65	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041	
DHX34	9704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	47878770	47878770	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:47878770G>T	ENST00000328771.4	+	10	2461	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	704					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGCCGCGCAGGTAGGGGACA	0.721																																					p.Q704H		.											.	DHX34-231	0			c.G2112T						.						10.0	11.0	11.0					19																	47878770		2160	4222	6382	SO:0001583	missense	9704	exon10			CGCGCAGGTAGGG	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2112G>T	19.37:g.47878770G>T	ENSP00000331907:p.Gln704His	11	0		26	10	NM_014681	0	0	7	10	3	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	5.004	0.186416	0.09495	.	.	ENSG00000134815	ENST00000328771	T	0.02812	4.15	4.54	-1.28	0.09318	Domain of unknown function DUF1605 (1);	3.140670	0.00728	N	0.000925	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B	0.30741	0.293	B	0.38428	0.273	T	0.42999	-0.9418	10	0.72032	D	0.01	-0.283	4.9846	0.14183	0.3059:0.2762:0.4179:0.0	.	704	Q14147	DHX34_HUMAN	H	704	ENSP00000331907:Q704H	ENSP00000331907:Q704H	Q	+	3	2	DHX34	52570569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.055000	0.14229	0.093000	0.17368	0.655000	0.94253	CAG	.		0.721	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
GLTSCR2	29997	hgsc.bcm.edu	37	19	48258037	48258037	+	Silent	SNP	C	C	T	rs375037039		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48258037C>T	ENST00000246802.5	+	8	980	c.942C>T	c.(940-942)ggC>ggT	p.G314G	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	314						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAGGCCAGGGCGAGGGGCCGG	0.711																																					p.G314G	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.C942T						.	C		0,4150		0,0,2075	10.0	15.0	13.0		942	-0.8	0.0	19		13	2,8196		0,2,4097	no	coding-synonymous	GLTSCR2	NM_015710.4		0,2,6172	TT,TC,CC		0.0244,0.0,0.0162		314/479	48258037	2,12346	2075	4099	6174	SO:0001819	synonymous_variant	29997	exon8			CCAGGGCGAGGGG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.942C>T	19.37:g.48258037C>T		3	0		45	18	NM_015710	1	0	141	285	143	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1																																																																																			.		0.711	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
GLTSCR2	29997	hgsc.bcm.edu	37	19	48258717	48258717	+	Missense_Mutation	SNP	A	A	G	rs1804994	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48258717A>G	ENST00000246802.5	+	9	1204	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	389			Q -> R (in dbSNP:rs1804994). {ECO:0000269|PubMed:10708517, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.			intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		gcgcggcggcagaggcggcgg	0.761													G|||	3570	0.712859	0.857	0.6888	5008	,	,		6528	0.5546		0.6799	False		,,,				2504	0.7321				p.Q389R	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.A1166G						.						1.0	2.0	1.0					19																	48258717		823	2228	3051	SO:0001583	missense	29997	exon9			GGCGGCAGAGGCG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1166A>G	19.37:g.48258717A>G	ENSP00000246802:p.Gln389Arg	0	0		4	4	NM_015710	0	0	0	4	4	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	1513	0.6927655677655677	424	0.8617886178861789	252	0.6961325966850829	316	0.5524475524475524	521	0.6873350923482849	G	0.092	-1.166361	0.01660	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.39229	1.09	3.93	2.86	0.33363	.	0.430291	0.24226	N	0.040398	T	0.00012	0.0000	N	0.00289	-1.7	0.54753	P	1.2000000000012001E-5	B	0.02656	0.0	B	0.06405	0.002	T	0.35450	-0.9788	9	0.05620	T	0.96	-11.9316	6.8245	0.23874	0.2235:0.0:0.7765:0.0	rs1804994;rs3211363;rs16949619;rs17343460;rs17856180;rs17856325;rs57240470	389	Q9NZM5	GSCR2_HUMAN	R	389;383	ENSP00000246802:Q389R	ENSP00000246802:Q389R	Q	+	2	0	GLTSCR2	52950529	0.025000	0.19082	0.815000	0.32552	0.328000	0.28507	0.153000	0.16323	0.415000	0.25817	-0.231000	0.12243	CAG	A|0.308;G|0.692		0.761	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
LMTK3	114783	hgsc.bcm.edu	37	19	48994785	48994785	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:48994785G>T	ENST00000600059.1	-	13	4331	c.4104C>A	c.(4102-4104)acC>acA	p.T1368T	LMTK3_ENST00000270238.3_Silent_p.T1397T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1368	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCAGCTCGTTGGTTGGCGTCT	0.642																																					p.T1397T		.											.	LMTK3-1357	0			c.C4191A						.						6.0	8.0	7.0					19																	48994785		1739	3873	5612	SO:0001819	synonymous_variant	114783	exon14			CTCGTTGGTTGGC	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4104C>A	19.37:g.48994785G>T		25	0		46	4	NM_001080434	0	0	0	0	0	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.642	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
SPHK2	56848	hgsc.bcm.edu	37	19	49132867	49132867	+	Missense_Mutation	SNP	G	G	C	rs61751862	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:49132867G>C	ENST00000245222.4	+	7	2168	c.1802G>C	c.(1801-1803)gGc>gCc	p.G601A	SPHK2_ENST00000340932.3_Missense_Mutation_p.G563A|SPHK2_ENST00000598088.1_Missense_Mutation_p.G601A|SPHK2_ENST00000599029.1_Missense_Mutation_p.G565A|SPHK2_ENST00000599748.1_Missense_Mutation_p.G565A|SPHK2_ENST00000443164.1_Missense_Mutation_p.G663A|SPHK2_ENST00000600537.1_Missense_Mutation_p.G542A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	601					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCGCAGCTGGGCTACGCCGCG	0.687													G|||	23	0.00459265	0.0023	0.0072	5008	,	,		15679	0.0		0.0129	False		,,,				2504	0.002				p.G601A		.											.	SPHK2-658	0			c.G1802C						.	G	ALA/GLY,ALA/GLY,ALA/GLY,ALA/GLY	7,4389		0,7,2191	18.0	16.0	17.0		1625,1802,1694,1802	4.8	1.0	19	dbSNP_129	17	100,8490		1,98,4196	yes	missense,missense,missense,missense	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	60,60,60,60	1,105,6387	CC,CG,GG		1.1641,0.1592,0.824	probably-damaging,probably-damaging,probably-damaging,probably-damaging	542/596,601/655,565/619,601/655	49132867	107,12879	2198	4295	6493	SO:0001583	missense	56848	exon7			AGCTGGGCTACGC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1802G>C	19.37:g.49132867G>C	ENSP00000245222:p.Gly601Ala	1	0		135	62	NM_020126	0	0	3	10	7	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	14	0.00641025641025641	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	10	0.013192612137203167	G	14.15	2.450567	0.43531	0.001592	0.011641	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.13307	2.6;2.6;2.6	4.78	4.78	0.61160	.	0.102441	0.64402	D	0.000004	T	0.06371	0.0164	N	0.22421	0.69	0.29856	N	0.82804	P;P;P	0.46220	0.465;0.874;0.861	B;B;B	0.42555	0.168;0.297;0.391	T	0.06373	-1.0830	10	0.11485	T	0.65	-10.9756	11.387	0.49791	0.0:0.1831:0.8169:0.0	rs61751862	542;663;601	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	A	601;574;563;663	ENSP00000245222:G601A;ENSP00000341091:G563A;ENSP00000413369:G663A	ENSP00000245222:G601A	G	+	2	0	SPHK2	53824679	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.612000	0.24283	2.653000	0.90120	0.555000	0.69702	GGC	G|0.994;C|0.006		0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1		
POLD1	5424	mdanderson.org	37	19	50905080	50905080	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:50905080C>T	ENST00000440232.2	+	4	415	c.362C>T	c.(361-363)tCc>tTc	p.S121F	POLD1_ENST00000595904.1_Missense_Mutation_p.S121F|POLD1_ENST00000599857.1_Missense_Mutation_p.S121F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	121					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCCGCGGCTCCGTGCCTGTG	0.682								DNA polymerases (catalytic subunits)																													p.S121F		.											.	POLD1-840	0			c.C362T						.						40.0	44.0	42.0					19																	50905080		2203	4300	6503	SO:0001583	missense	5424	exon4			GCGGCTCCGTGCC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.362C>T	19.37:g.50905080C>T	ENSP00000406046:p.Ser121Phe	25	1		88	40	NM_002691	0	0	1	5	4	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898161	0.33535	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.24723	1.84	4.04	2.96	0.34315	Ribonuclease H-like (1);	1.713730	0.03092	N	0.159928	T	0.31482	0.0798	L	0.55990	1.75	0.09310	N	1	P;B	0.38300	0.626;0.396	B;B	0.36534	0.227;0.163	T	0.42949	-0.9421	10	0.72032	D	0.01	-10.2887	11.9142	0.52755	0.1761:0.8239:0.0:0.0	.	121;121	E7EVW0;P28340	.;DPOD1_HUMAN	F	121;122	ENSP00000406046:S121F	ENSP00000366129:S122F	S	+	2	0	POLD1	55596892	0.006000	0.16342	0.002000	0.10522	0.022000	0.10575	2.219000	0.42899	0.788000	0.33755	0.455000	0.32223	TCC	.		0.682	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
POLD1	5424	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	50918779	50918779	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:50918779C>T	ENST00000440232.2	+	21	2702	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Silent_p.I909I|POLD1_ENST00000599857.1_Silent_p.I883I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	883					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGGTCATCACCAAGGAGC	0.677								DNA polymerases (catalytic subunits)																													p.I883I		.											.	POLD1-840	0			c.C2649T						.						39.0	31.0	34.0					19																	50918779		2203	4299	6502	SO:0001819	synonymous_variant	5424	exon21			GGTCATCACCAAG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2649C>T	19.37:g.50918779C>T		157	1		445	142	NM_002691	0	0	24	44	20	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																			.		0.677	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
FPR1	2357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	52249798	52249798	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:52249798C>A	ENST00000595042.1	-	3	591	c.450G>T	c.(448-450)tgG>tgT	p.W150C	FPR1_ENST00000304748.4_Missense_Mutation_p.W150C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	150					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)	GAGCCATCACCCAGGGCCCAA	0.552																																					p.W150C		.											.	FPR1-524	0			c.G450T						.						75.0	68.0	71.0					19																	52249798		2203	4300	6503	SO:0001583	missense	2357	exon3			CATCACCCAGGGC	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.450G>T	19.37:g.52249798C>A	ENSP00000471493:p.Trp150Cys	197	0		242	93	NM_001193306	0	0	8	10	2	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	17.41	3.383339	0.61845	.	.	ENSG00000171051	ENST00000304748	D	0.88818	-2.43	3.66	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.96645	0.8905	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97764	1.0222	10	0.87932	D	0	.	13.6424	0.62260	0.0:1.0:0.0:0.0	.	150	P21462	FPR1_HUMAN	C	150	ENSP00000302707:W150C	ENSP00000302707:W150C	W	-	3	0	FPR1	56941610	1.000000	0.71417	0.257000	0.24404	0.033000	0.12548	7.031000	0.76491	1.960000	0.56953	0.655000	0.94253	TGG	.		0.552	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
VN1R2	317701	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	53762456	53762456	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:53762456C>T	ENST00000341702.3	+	1	912	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	276					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTCTGGGGCTCATGCTCTGGG	0.468																																					p.L276L		.											.	VN1R2-90	0			c.C828T						.						149.0	139.0	142.0					19																	53762456		2203	4300	6503	SO:0001819	synonymous_variant	317701	exon1			GGGGCTCATGCTC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.828C>T	19.37:g.53762456C>T		138	2		181	63	NM_173856	0	0	0	0	0	A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	CCDS12862.1																																																																																			.		0.468	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
ZNF845	91664	ucsc.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256				p.R925H		.											.	.	3	Substitution - Missense(3)	kidney(3)	c.G2774A						.						33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664	exon4			CCTTCCGTCACAA	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His	157	18		167	33	NM_138374	0	0	2	2	0		Missense_Mutation	SNP	ENST00000595091.1	37	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT	.		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
ZNF845	91664	ucsc.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256				p.K934K		.											.	.	3	Substitution - coding silent(3)	kidney(3)	c.G2802A						.																																			SO:0001819	synonymous_variant	91664	exon4			TCATAAGACAATT	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A		165	18		176	33	NM_138374	0	0	0	0	0		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																			.		0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
LILRB5	10990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54756391	54756391	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:54756391C>A	ENST00000316219.5	-	10	1600	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V	LILRB5_ENST00000449561.2_Missense_Mutation_p.G499V|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.G399V|LILRB5_ENST00000450632.1_Missense_Mutation_p.G490V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	498					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCGCAGCCCCTGCAGGACG	0.607																																					p.G499V		.											.	LILRB5-92	0			c.G1496T						.						89.0	86.0	87.0					19																	54756391		2203	4300	6503	SO:0001583	missense	10990	exon10			GCAGCCCCTGCAG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1493G>T	19.37:g.54756391C>A	ENSP00000320390:p.Gly498Val	39	0		55	32	NM_001081442	0	0	19	19	0	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034193	0.35893	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00523	6.94;6.83;6.91;6.9	1.91	1.91	0.25777	.	.	.	.	.	T	0.01421	0.0046	M	0.82323	2.585	0.19775	N	0.999954	D;D;B;B	0.57899	0.966;0.981;0.05;0.017	P;P;B;B	0.62885	0.518;0.908;0.026;0.015	T	0.42582	-0.9443	9	0.66056	D	0.02	.	7.3327	0.26592	0.0:1.0:0.0:0.0	.	490;399;499;498	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	V	498;490;499;399	ENSP00000320390:G498V;ENSP00000414225:G490V;ENSP00000406478:G499V;ENSP00000263430:G399V	ENSP00000320390:G498V	G	-	2	0	LILRB5	59448203	0.000000	0.05858	0.059000	0.19551	0.006000	0.05464	-0.354000	0.07681	1.360000	0.45960	0.460000	0.39030	GGG	.		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
KIR3DX1	90011	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55054617	55054617	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55054617G>T	ENST00000335056.3	+	7	1070	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	0						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCCCACGGAAGGCCAACGGAC	0.522																																					.	Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	.											.	KIR3DX1-91	0			.						.																																			SO:0001583	missense	90011	.			ACGGAAGGCCAAC	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.1032G>T	19.37:g.55054617G>T	ENSP00000335388:p.Lys344Asn	155	0		213	66	.	0	0	0	0	0	B7WNL0|Q8N0S4	RNA	SNP	ENST00000335056.3	37		.	.	.	.	.	.	.	.	.	.	G	8.856	0.945741	0.18356	.	.	ENSG00000104970	ENST00000335056	T	0.00557	6.62	2.19	2.19	0.27852	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52253	-0.8600	6	0.54805	T	0.06	.	7.9508	0.30014	0.0:0.0:1.0:0.0	.	.	.	.	N	344	ENSP00000335388:K344N	ENSP00000335388:K344N	K	+	3	2	KIR3DX1	59746429	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	0.280000	0.18790	1.514000	0.48869	0.655000	0.94253	AAG	.		0.522	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	
PPP1R12C	54776	hgsc.bcm.edu	37	19	55628609	55628609	+	Silent	SNP	A	A	G	rs66707428	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55628609A>G	ENST00000263433.3	-	1	318	c.303T>C	c.(301-303)ggT>ggC	p.G101G	PPP1R12C_ENST00000376393.2_Silent_p.G101G	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGGCGCTGATACCGTCGGCGT	0.781													N|||	1009	0.201478	0.2806	0.0965	5008	,	,		7556	0.2738		0.1093	False		,,,				2504	0.1892				p.G101G		.											.	PPP1R12C-227	0			c.T303C						.						1.0	2.0	1.0					19																	55628609		1184	2666	3850	SO:0001819	synonymous_variant	54776	exon1			GCTGATACCGTCG	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.303T>C	19.37:g.55628609A>G		0	0		14	5	NM_017607	0	0	2	3	1		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																			A|0.808;G|0.192		0.781	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	
ZNF628	89887	hgsc.bcm.edu;broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	C	G	rs369974817		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55993021C>G	ENST00000598519.1	+	3	1014	c.461C>G	c.(460-462)cCc>cGc	p.P154R	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGGACTGCCCCAAGGCCTTC	0.667																																					p.P154R		.											.	ZNF628-22	0			c.C461G						.	C	ARG/PRO	0,4406		0,0,2203	32.0	33.0	33.0		449	1.4	1.0	19		33	1,8593		0,1,4296	no	missense	ZNF628	NM_033113.2	103	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	150/1056	55993021	1,12999	2203	4297	6500	SO:0001583	missense	89887	exon3			ACTGCCCCAAGGC	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.461C>G	19.37:g.55993021C>G	ENSP00000469591:p.Pro154Arg	25	0		200	23	NM_033113	0	0	1	1	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.036	0.762883	0.15914	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.03468	3.92	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.07728	0.0194	L	0.40543	1.245	0.23677	N	0.997137	D	0.53462	0.96	P	0.59424	0.857	T	0.11743	-1.0575	10	0.87932	D	0	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	R	150	ENSP00000375598:P150R	ENSP00000375598:P150R	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC	.		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964	
ZNF628	89887	hgsc.bcm.edu	37	19	55993436	55993436	+	Missense_Mutation	SNP	G	G	T	rs147110934	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:55993436G>T	ENST00000598519.1	+	3	1429	c.876G>T	c.(874-876)gaG>gaT	p.E292D	NAT14_ENST00000205194.4_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.E288D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	292	Pro-rich.				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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCACGGTGGAGCTGGTGTACC	0.761													-|||	28	0.00559105	0.0	0.0101	5008	,	,		4077	0.0		0.0159	False		,,,				2504	0.0051				p.E292D		.											.	ZNF628-22	0			c.G876T						.						2.0	2.0	2.0					19																	55993436		1044	1952	2996	SO:0001583	missense	89887	exon3			GGTGGAGCTGGTG	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.876G>T	19.37:g.55993436G>T	ENSP00000469591:p.Glu292Asp	3	0		25	18	NM_033113	0	0	0	0	0	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	48	0.02197802197802198	8	0.016260162601626018	15	0.04143646408839779	3	0.005244755244755245	22	0.029023746701846966	.	13.85	2.358787	0.41801	.	.	ENSG00000197483	ENST00000391718	T	0.08546	3.08	3.23	3.23	0.37069	.	0.124168	0.33092	U	0.005298	T	0.01287	0.0042	N	0.19112	0.55	0.22034	N	0.999409	B	0.23316	0.083	B	0.21360	0.034	T	0.32929	-0.9888	10	0.72032	D	0.01	-13.3968	12.4479	0.55662	0.0:0.0:1.0:0.0	.	288	Q5EBL2	ZN628_HUMAN	D	288	ENSP00000375598:E288D	ENSP00000375598:E288D	E	+	3	2	ZNF628	60685248	0.997000	0.39634	1.000000	0.80357	0.751000	0.42716	1.731000	0.38135	1.861000	0.53984	0.459000	0.35465	GAG	G|0.978;T|0.022		0.761	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964	
RFPL4A	342931	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	56274485	56274485	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56274485T>C	ENST00000434937.2	+	3	979	c.808T>C	c.(808-810)Tgt>Cgt	p.C270R		NM_001145014.1	NP_001138486.1	A6NLU0	RFPLA_HUMAN	ret finger protein-like 4A	270	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CCTGAGTATCTGTTCTGTGAT	0.433																																					p.C270R		.											.	RFPL4A-68	0			c.T808C						.						17.0	20.0	19.0					19																	56274485		690	1591	2281	SO:0001583	missense	342931	exon3			AGTATCTGTTCTG		CCDS46201.1	19q13.42	2013-02-22	2007-01-19	2007-01-19	ENSG00000223638	ENSG00000223638		"""RING-type (C3HC4) zinc fingers"""	16449	protein-coding gene	gene with protein product		612601	"""ret finger protein-like 4"""	RFPL4		11850190	Standard	NM_001145014		Approved	RNF210	uc010yge.2	A6NLU0	OTTHUMG00000165449	ENST00000434937.2:c.808T>C	19.37:g.56274485T>C	ENSP00000392936:p.Cys270Arg	223	0		282	36	NM_001145014	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434937.2	37	CCDS46201.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588557	0.28357	.	.	ENSG00000223638	ENST00000434937	T	0.62639	0.01	2.35	1.31	0.21738	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.73953	0.3653	M	0.81682	2.555	0.20307	N	0.999917	D	0.89917	1.0	D	0.78314	0.991	T	0.58983	-0.7539	9	0.56958	D	0.05	-13.1823	3.4742	0.07578	0.0:0.3688:0.0:0.6312	.	270	A6NLU0	RFPLA_HUMAN	R	270	ENSP00000392936:C270R	ENSP00000392936:C270R	C	+	1	0	RFPL4A	60966297	0.106000	0.21978	0.003000	0.11579	0.013000	0.08279	0.186000	0.16978	1.038000	0.40049	0.533000	0.62120	TGT	.		0.433	RFPL4A-001	NOVEL	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384184.1	XM_292796	
NLRP8	126205	broad.mit.edu;bcgsc.ca	37	19	56467088	56467088	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56467088T>A	ENST00000291971.3	+	3	1735	c.1664T>A	c.(1663-1665)aTg>aAg	p.M555K	NLRP8_ENST00000590542.1_Missense_Mutation_p.M555K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	555					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCTCACATGGGACTTTTC	0.468																																					p.M555K		.											.	NLRP8-361	0			c.T1664A						.						74.0	70.0	71.0					19																	56467088		2203	4300	6503	SO:0001583	missense	126205	exon3			CTCACATGGGACT	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1664T>A	19.37:g.56467088T>A	ENSP00000291971:p.Met555Lys	52	1		55	24	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842026	0.51057	.	.	ENSG00000179709	ENST00000291971	D	0.84070	-1.8	2.04	2.04	0.26737	.	.	.	.	.	D	0.84817	0.5556	L	0.45352	1.415	0.23708	N	0.997058	P;D	0.76494	0.903;0.999	P;D	0.71414	0.455;0.973	T	0.71817	-0.4478	9	0.72032	D	0.01	.	6.0859	0.19966	0.0:0.0:0.0:1.0	.	555;555	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	555	ENSP00000291971:M555K	ENSP00000291971:M555K	M	+	2	0	NLRP8	61158900	0.307000	0.24500	0.188000	0.23233	0.236000	0.25371	0.686000	0.25392	1.193000	0.43086	0.421000	0.28195	ATG	.		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
NLRP5	126206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56511131	56511131	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56511131C>G	ENST00000390649.3	+	1	40	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	14					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		agctgcTGCTCTGCTCTCAGC	0.532																																					p.L14V		.											.	NLRP5-162	0			c.C40G						.						202.0	205.0	204.0					19																	56511131		2103	4227	6330	SO:0001583	missense	126206	exon1			GCTGCTCTGCTCT	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.40C>G	19.37:g.56511131C>G	ENSP00000375063:p.Leu14Val	77	0		104	41	NM_153447	0	0	0	0	0	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	5.797	0.331452	0.10956	.	.	ENSG00000171487	ENST00000390649	T	0.73575	-0.76	0.492	0.492	0.16872	.	.	.	.	.	T	0.48978	0.1530	N	0.08118	0	0.09310	N	1	B	0.31054	0.306	B	0.20384	0.029	T	0.43393	-0.9394	8	0.87932	D	0	.	.	.	.	.	14	P59047	NALP5_HUMAN	V	14	ENSP00000375063:L14V	ENSP00000375063:L14V	L	+	1	2	NLRP5	61202943	0.004000	0.15560	0.012000	0.15200	0.017000	0.09413	0.283000	0.18846	0.528000	0.28580	0.298000	0.19748	CTG	.		0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	TCG	TCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898				p.367_368del		.											.	ZNF787-69	0			c.1101_1103del						.																																			SO:0001651	inframe_deletion	126208	exon3			GCGGCCTCGTCGT	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	0	0		11	11	NM_001002836	0	0	0	0	0	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																			.		0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
ZNF548	147694	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	57911240	57911240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:57911240G>T	ENST00000366197.5	+	3	1835	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E541*|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	529					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)	1		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)		TTTCACAATGGAGaaagttta	0.353																																					p.E541X		.											.	ZNF548-67	0			c.G1621T						.						24.0	23.0	23.0					19																	57911240		1882	4117	5999	SO:0001587	stop_gained	147694	exon4			ACAATGGAGAAAG	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1585G>T	19.37:g.57911240G>T	ENSP00000379482:p.Glu529*	27	0		28	14	NM_001172773	0	0	5	8	3	Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	38	6.746288	0.97809	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.59	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.7754	0.23617	0.1083:0.3381:0.5535:0.0	.	.	.	.	X	541;529	.	ENSP00000337555:E541X	E	+	1	0	ZNF548	62603052	0.014000	0.17966	0.006000	0.13384	0.748000	0.42578	0.171000	0.16685	-0.126000	0.11682	0.655000	0.94253	GAG	.		0.353	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
TPO	7173	hgsc.bcm.edu	37	2	1481231	1481231	+	Missense_Mutation	SNP	G	G	C	rs2175977	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:1481231G>C	ENST00000345913.4	+	8	1284	c.1193G>C	c.(1192-1194)aGc>aCc	p.S398T	TPO_ENST00000329066.4_Missense_Mutation_p.S398T|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S398T|TPO_ENST00000382201.3_Missense_Mutation_p.S398T|TPO_ENST00000349624.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S398T|TPO_ENST00000382198.1_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	398			S -> T (in dbSNP:rs2175977). {ECO:0000269|PubMed:7550241}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCGCGCCAGCGAGGTCCCC	0.761													G|||	3557	0.710264	0.8185	0.6571	5008	,	,		9157	0.7758		0.6034	False		,,,				2504	0.6442				p.S398T		.											.	TPO-332	0			c.G1193C						.	G	THR/SER,THR/SER,THR/SER,THR/SER,THR/SER,	2498,394		1072,354,20	2.0	2.0	2.0		1193,1193,1193,1193,1193,	4.1	1.0	2	dbSNP_96	2	4199,1477		1511,1177,150	no	missense,missense,missense,missense,missense,intron	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	58,58,58,58,58,	2583,1531,170	CC,CG,GG		26.0218,13.6238,21.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,	398/934,398/934,398/877,398/877,398/890,	1481231	6697,1871	1446	2838	4284	SO:0001583	missense	7173	exon8			GCGCCAGCGAGGT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1193G>C	2.37:g.1481231G>C	ENSP00000318820:p.Ser398Thr	0	0		8	8	NM_175719	0	0	0	0	0	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	1512|1512	0.6923076923076923|0.6923076923076923	388|388	0.7886178861788617|0.7886178861788617	227|227	0.6270718232044199|0.6270718232044199	438|438	0.7657342657342657|0.7657342657342657	459|459	0.6055408970976254|0.6055408970976254	G|G	18.72|18.72	3.683431|3.683431	0.68157|0.68157	0.863762|0.863762	0.739782|0.739782	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.73897	.|-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.99|4.99	4.08|4.08	0.47627|0.47627	.|.	.|0.142496	.|0.64402	.|N	.|0.000004	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	P|P	1.0|1.0	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.69654	.|0.956;0.94;0.965	T|T	0.30060|0.30060	-0.9991|-0.9991	5|9	0.48119|0.56958	T|D	0.1|0.05	-48.0867|-48.0867	8.6411|8.6411	0.33978|0.33978	0.08:0.1541:0.7659:0.0|0.08:0.1541:0.7659:0.0	rs2175977|rs2175977	.|398;398;398	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	H|T	81|398;398;398;398;398;327	.|ENSP00000337263:S398T;ENSP00000318820:S398T;ENSP00000263886:S398T;ENSP00000329869:S398T;ENSP00000371636:S398T;ENSP00000405788:S327T	ENSP00000439133:Q81H|ENSP00000329869:S398T	Q|S	+|+	3|2	2|0	TPO|TPO	1460238|1460238	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.297000|1.297000	0.33400|0.33400	1.031000|1.031000	0.39867|0.39867	0.460000|0.460000	0.39030|0.39030	CAG|AGC	G|0.301;C|0.699		0.761	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
PXDN	7837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	1652055	1652055	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:1652055C>A	ENST00000252804.4	-	17	3547	c.3497G>T	c.(3496-3498)gGg>gTg	p.G1166V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1166					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)		GGGTGGGATCCCGTGGTCCCG	0.597																																					p.G1166V		.											.	PXDN-166	0			c.G3497T						.						86.0	96.0	93.0					2																	1652055		2019	4207	6226	SO:0001583	missense	7837	exon17			GGGATCCCGTGGT	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.3497G>T	2.37:g.1652055C>A	ENSP00000252804:p.Gly1166Val	104	0		192	91	NM_012293	0	0	0	1	1	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.453001	0.84209	.	.	ENSG00000130508	ENST00000252804	T	0.78924	-1.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92691	0.7677	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94672	0.7857	10	0.87932	D	0	-47.3214	19.6424	0.95763	0.0:1.0:0.0:0.0	.	1166	Q92626	PXDN_HUMAN	V	1166	ENSP00000252804:G1166V	ENSP00000252804:G1166V	G	-	2	0	PXDN	1631062	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.734000	0.84928	2.645000	0.89757	0.650000	0.86243	GGG	.		0.597	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	21231248	21231248	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:21231248G>T	ENST00000233242.1	-	26	8619	c.8492C>A	c.(8491-8493)tCc>tAc	p.S2831Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2831					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)					GTACTTGCTGGAGAACTTCAC	0.403																																					p.S2831Y		.											.	APOB-175	0			c.C8492A						.						118.0	123.0	122.0					2																	21231248		2203	4300	6503	SO:0001583	missense	338	exon26			TTGCTGGAGAACT	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.8492C>A	2.37:g.21231248G>T	ENSP00000233242:p.Ser2831Tyr	46	0		66	29	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399636	0.42512	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00864	5.6	5.36	5.36	0.76844	.	0.000000	0.46758	D	0.000264	T	0.05410	0.0143	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.06789	-1.0807	10	0.87932	D	0	.	15.3597	0.74460	0.0:0.14:0.86:0.0	.	2831	P04114	APOB_HUMAN	Y	2831	ENSP00000233242:S2831Y	ENSP00000233242:S2831Y	S	-	2	0	APOB	21084753	0.992000	0.36948	1.000000	0.80357	0.855000	0.48748	1.514000	0.35834	2.513000	0.84729	0.555000	0.69702	TCC	.		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
FAM98A	25940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	33811716	33811716	+	Silent	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:33811716T>A	ENST00000238823.8	-	6	773	c.633A>T	c.(631-633)atA>atT	p.I211I	FAM98A_ENST00000403368.1_Silent_p.I211I|FAM98A_ENST00000441530.2_Silent_p.I16I|FAM98A_ENST00000498340.1_5'Flank			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	212							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ATTCATTGGCTATGGCTTGGT	0.373																																					p.I211I		.											.	FAM98A-91	0			c.A633T						.						114.0	111.0	112.0					2																	33811716		2203	4300	6503	SO:0001819	synonymous_variant	25940	exon6			ATTGGCTATGGCT		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.633A>T	2.37:g.33811716T>A		40	0		44	17	NM_015475	0	0	4	5	1	B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	CCDS33179.1																																																																																			.		0.373	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
MSH2	4436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	47641427	47641427	+	Missense_Mutation	SNP	C	C	T	rs139891783		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:47641427C>T	ENST00000233146.2	+	5	1035	c.812C>T	c.(811-813)tCt>tTt	p.S271F	MSH2_ENST00000406134.1_Missense_Mutation_p.S271F|MSH2_ENST00000543555.1_Missense_Mutation_p.S205F	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	271			Missing (in HNPCC1). {ECO:0000269|PubMed:9718327}.		ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATCACTGTCTGCGGTAATC	0.313			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.S271F		.	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	MSH2-2445	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)	c.C812T	GRCh37	CD045346	MSH2	D	rs139891783	.						67.0	66.0	66.0					2																	47641427		2203	4300	6503	SO:0001583	missense	4436	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CACTGTCTGCGGT	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.812C>T	2.37:g.47641427C>T	ENSP00000233146:p.Ser271Phe	83	0		45	22	NM_000251	0	0	4	12	8	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666492	0.67814	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D	0.89415	-2.51;-2.51;-2.51	5.24	3.45	0.39498	DNA mismatch repair protein MutS, connector (1);	0.198355	0.43110	N	0.000608	D	0.93220	0.7840	M	0.82193	2.58	0.36506	D	0.86931	D;D;D	0.62365	0.99;0.991;0.961	P;P;P	0.62560	0.904;0.837;0.878	D	0.94459	0.7674	10	0.87932	D	0	-4.1152	11.1408	0.48402	0.0:0.8023:0.1279:0.0698	.	271;271;271	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	F	271;205;271;271;271;271;271;271	ENSP00000233146:S271F;ENSP00000442697:S205F;ENSP00000384199:S271F	ENSP00000233146:S271F	S	+	2	0	MSH2	47494931	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.617000	0.61204	0.619000	0.30197	-0.189000	0.12847	TCT	.		0.313	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
SPTBN1	6711	broad.mit.edu;mdanderson.org	37	2	54858733	54858733	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:54858733C>G	ENST00000356805.4	+	16	3830	c.3549C>G	c.(3547-3549)gcC>gcG	p.A1183A	SPTBN1_ENST00000333896.5_Silent_p.A1170A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1183					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)			AAGCCGAAGCCTTTCTTAACA	0.502																																					p.A1183A		.											.	SPTBN1-140	0			c.C3549G						.						74.0	79.0	77.0					2																	54858733		2203	4300	6503	SO:0001819	synonymous_variant	6711	exon16			CGAAGCCTTTCTT		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.3549C>G	2.37:g.54858733C>G		49	0		61	21	NM_003128	0	0	0	0	0	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																			.		0.502	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
UGP2	7360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	64111157	64111157	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:64111157G>A	ENST00000337130.5	+	5	981	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.E178K|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.E158K|UGP2_ENST00000394417.2_Missense_Mutation_p.E158K	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	169					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TAACACGGATGAAGATACCAA	0.328																																					p.E169K		.											.	UGP2-90	0			c.G505A						.						107.0	105.0	106.0					2																	64111157		2203	4300	6503	SO:0001583	missense	7360	exon5			ACGGATGAAGATA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.505G>A	2.37:g.64111157G>A	ENSP00000338703:p.Glu169Lys	78	0		47	18	NM_006759	0	0	19	34	15	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996860	0.74818	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.18;2.14;2.18;2.14	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.58510	1.815	0.80722	D	1	B;B	0.27068	0.167;0.007	B;B	0.30572	0.117;0.031	T	0.02339	-1.1174	10	0.33141	T	0.24	-55.2098	19.88	0.96892	0.0:0.0:1.0:0.0	.	178;169	E7EUC7;Q16851	.;UGPA_HUMAN	K	158;158;169;161;178;158;158	ENSP00000377939:E158K;ENSP00000420793:E158K;ENSP00000338703:E169K;ENSP00000420131:E161K;ENSP00000411803:E178K;ENSP00000419335:E158K;ENSP00000420342:E158K	ENSP00000338703:E169K	E	+	1	0	UGP2	63964661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.703000	0.92315	0.655000	0.94253	GAA	.		0.328	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
CLEC4F	165530	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	71039579	71039579	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:71039579C>A	ENST00000272367.2	-	5	1615	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	CLEC4F_ENST00000426626.1_Splice_Site_p.Q513H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	513	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCTCTGACCTGCTCCTCCT	0.522																																					p.Q513H	Colon(107;10 2157 6841 26035)	.											.	CLEC4F-95	0			c.G1539T						.						70.0	67.0	68.0					2																	71039579		2203	4300	6503	SO:0001630	splice_region_variant	165530	exon5			TCTGACCTGCTCC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1539+1G>T	2.37:g.71039579C>A		135	0		162	55	NM_173535	0	0	0	0	0	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	c	13.89	2.373238	0.42105	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.18960	2.18;2.18	4.4	4.4	0.53042	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.735158	0.11194	N	0.589549	T	0.36744	0.0978	L	0.45422	1.42	0.25550	N	0.9871	D;P	0.63046	0.992;0.698	D;B	0.64877	0.93;0.396	T	0.11817	-1.0572	9	.	.	.	.	13.2928	0.60280	0.0:1.0:0.0:0.0	.	513;513	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	H	513	ENSP00000272367:Q513H;ENSP00000390581:Q513H	.	Q	-	3	2	CLEC4F	70893087	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	3.938000	0.56583	2.410000	0.81850	0.291000	0.19559	CAG	.		0.522	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	Missense_Mutation
TBC1D8	11138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	101656658	101656658	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:101656658G>A	ENST00000376840.4	-	6	1016	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	TBC1D8_ENST00000409318.1_Silent_p.I354I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	339	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTGGCAGGATGATCTTACAGC	0.557																																					p.I339I		.											.	TBC1D8-25	0			c.C1017T						.						72.0	76.0	74.0					2																	101656658		2024	4179	6203	SO:0001819	synonymous_variant	11138	exon6			CAGGATGATCTTA	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1017C>T	2.37:g.101656658G>A		132	0		220	68	NM_001102426	0	0	0	2	2	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	CCDS46375.1																																																																																			.		0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
IL18R1	8809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	102998142	102998142	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:102998142G>A	ENST00000409599.1	+	7	1044	c.688G>A	c.(688-690)Gga>Aga	p.G230R	IL18R1_ENST00000233957.1_Splice_Site_p.G230R			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	230	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGGAATTAGGTATATTTCA	0.338																																					p.G230R		.											.	IL18R1-93	0			c.G688A						.						98.0	92.0	94.0					2																	102998142		2203	4300	6503	SO:0001630	splice_region_variant	8809	exon5			GAATTAGGTATAT	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.688+1G>A	2.37:g.102998142G>A		94	0		77	28	NM_003855	0	0	0	0	0	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471380	0.63737	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.28069	1.63;1.63;1.63	5.03	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.56499	0.1989	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61138	-0.7123	10	0.87932	D	0	.	14.214	0.65781	0.0:0.0:1.0:0.0	.	230;230	B7ZKV7;Q13478	.;IL18R_HUMAN	R	230	ENSP00000386663:G230R;ENSP00000387211:G230R;ENSP00000233957:G230R	ENSP00000233957:G230R	G	+	1	0	IL18R1	102364574	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	4.358000	0.59442	2.493000	0.84123	0.650000	0.86243	GGA	.		0.338	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	Missense_Mutation
SULT1C3	442038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	108872131	108872131	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:108872131A>T	ENST00000329106.2	+	4	503	c.503A>T	c.(502-504)tAt>tTt	p.Y168F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.Y168F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	168					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GAGGAATTTTATGAGAAATTC	0.433																																					p.Y168F		.											.	SULT1C3-91	0			c.A503T						.						74.0	72.0	73.0					2																	108872131		2203	4300	6503	SO:0001583	missense	442038	exon4			AATTTTATGAGAA	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.503A>T	2.37:g.108872131A>T	ENSP00000333310:p.Tyr168Phe	79	0		99	18	NM_001008743	0	0	0	0	0	Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	2.979	-0.210720	0.06140	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.80480	-1.38;-1.38	3.58	-7.17	0.01511	Sulfotransferase domain (1);	3.177980	0.01133	N	0.006025	T	0.37812	0.1017	N	0.00024	-2.7	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.57556	-0.7791	10	0.21014	T	0.42	.	9.9485	0.41626	0.0739:0.0741:0.093:0.759	.	168	Q6IMI6	ST1C3_HUMAN	F	168	ENSP00000333310:Y168F;ENSP00000365890:Y168F	ENSP00000333310:Y168F	Y	+	2	0	SULT1C3	108238563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.791000	0.26915	-2.830000	0.00339	-1.238000	0.01547	TAT	.		0.433	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743	
SOWAHC	65124	hgsc.bcm.edu	37	2	110372192	110372192	+	Silent	SNP	A	A	G	rs6594048		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:110372192A>G	ENST00000356454.3	+	1	282	c.126A>G	c.(124-126)ctA>ctG	p.L42L	SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	42																	GGGGCGCCCTAGGCGGCGAAC	0.771													G|||	5008	1.0	1.0	1.0	5008	,	,		6158	1.0		1.0	False		,,,				2504	1.0				p.L42L		.											.	.	0			c.A126G						.						1.0	2.0	2.0					2																	110372192		1239	2477	3716	SO:0001819	synonymous_variant	65124	exon1			CGCCCTAGGCGGC	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.126A>G	2.37:g.110372192A>G		0	0		6	6	NM_023016	0	0	0	0	0	Q8NE15|Q9H6U1	Silent	SNP	ENST00000356454.3	37	CCDS33270.1																																																																																			A|0.029;G|0.971		0.771	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016	
IL1RN	3557	ucsc.edu;bcgsc.ca	37	2	113887216	113887216	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:113887216G>T	ENST00000409930.3	+	2	244	c.180G>T	c.(178-180)ttG>ttT	p.L60F	IL1RN_ENST00000361779.3_Missense_Mutation_p.L26F|IL1RN_ENST00000354115.2_Missense_Mutation_p.L42F|IL1RN_ENST00000409052.1_Missense_Mutation_p.L26F|IL1RN_ENST00000259206.5_Missense_Mutation_p.L63F	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	60					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	CTGGATACTTGCAAGGACCAA	0.478									Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.L63F		.											.	IL1RN-92	0			c.G189T						.						154.0	140.0	145.0					2																	113887216		2203	4300	6503	SO:0001583	missense	3557	exon4	Familial Cancer Database	Lichen Sclerosis, Familial	ATACTTGCAAGGA	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.180G>T	2.37:g.113887216G>T	ENSP00000387173:p.Leu60Phe	268	4		402	134	NM_173841	0	0	1	1	0	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	ENST00000409930.3	37	CCDS46396.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494735	0.44352	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.33	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.89601	3.045	0.34211	D	0.674246	D;B;P	0.56968	0.978;0.078;0.912	D;B;D	0.64877	0.918;0.108;0.93	T	0.48896	-0.8994	10	0.59425	D	0.04	-15.8092	6.763	0.23550	0.3929:0.0:0.6071:0.0	.	60;42;63	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	F	26;26;63;42;60	ENSP00000387210:L26F;ENSP00000354816:L26F;ENSP00000259206:L63F;ENSP00000329072:L42F;ENSP00000387173:L60F	ENSP00000259206:L63F	L	+	3	2	IL1RN	113603687	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	0.440000	0.21592	0.315000	0.23110	-0.192000	0.12808	TTG	.		0.478	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841	
MARCO	8685	hgsc.bcm.edu;bcgsc.ca	37	2	119731955	119731955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:119731955delC	ENST00000327097.4	+	5	642	c.507delC	c.(505-507)ggcfs	p.G169fs	MARCO_ENST00000541757.1_Frame_Shift_Del_p.G91fs	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	169	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGCCCCTGGCCCGCCGGGAC	0.562																																					p.G169fs	GBM(8;18 374 7467 11269 32796)	.											.	MARCO-95	0			c.507delC						.						65.0	67.0	66.0					2																	119731955		2200	4298	6498	SO:0001589	frameshift_variant	8685	exon5			CCCTGGCCCGCCG	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.507delC	2.37:g.119731955delC	ENSP00000318916:p.Gly169fs	76	1		71	27	NM_006770	0	0	0	0	0	B4DW79|Q9Y5S3	Frame_Shift_Del	DEL	ENST00000327097.4	37	CCDS2124.1																																																																																			.		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
C1QL2	165257	hgsc.bcm.edu;broad.mit.edu	37	2	119915573	119915573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:119915573delC	ENST00000272520.3	-	1	892	c.273delG	c.(271-273)gggfs	p.G91fs		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	91	Collagen-like.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CTCCAGGGGGCCCCCGCGGCC	0.751										HNSCC(49;0.14)																											p.G91fs		.											.	C1QL2-91	0			c.273delG						.						2.0	2.0	2.0					2																	119915573		926	2235	3161	SO:0001589	frameshift_variant	165257	exon1			AGGGGGCCCCCGC	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.273delG	2.37:g.119915573delC	ENSP00000272520:p.Gly91fs	6	0		22	11	NM_182528	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000272520.3	37	CCDS42737.1																																																																																			.		0.751	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528	
CNTNAP5	129684	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	125262066	125262066	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125262066C>A	ENST00000431078.1	+	8	1621	c.1257C>A	c.(1255-1257)agC>agA	p.S419R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TGCTGCTGAGCCTGGAGGGTG	0.517																																					p.S419R		.											.	CNTNAP5-524	0			c.C1257A						.						70.0	73.0	72.0					2																	125262066		1968	4156	6124	SO:0001583	missense	129684	exon8			GCTGAGCCTGGAG	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.1257C>A	2.37:g.125262066C>A	ENSP00000399013:p.Ser419Arg	127	1		172	71	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146668	0.21288	.	.	ENSG00000155052	ENST00000431078	T	0.78364	-1.17	5.64	1.79	0.24919	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.674319	0.13582	N	0.377262	T	0.48059	0.1479	N	0.04297	-0.235	0.22185	N	0.999301	B	0.33318	0.408	B	0.32149	0.141	T	0.36625	-0.9740	10	0.14252	T	0.57	.	2.7289	0.05221	0.1265:0.5417:0.1228:0.209	.	419	Q8WYK1	CNTP5_HUMAN	R	419	ENSP00000399013:S419R	ENSP00000399013:S419R	S	+	3	2	CNTNAP5	124978536	0.902000	0.30710	0.999000	0.59377	0.937000	0.57800	-0.170000	0.09897	0.313000	0.23062	-0.142000	0.14014	AGC	.		0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	125547619	125547619	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125547619G>T	ENST00000431078.1	+	18	3254	c.2890G>T	c.(2890-2892)Ggc>Tgc	p.G964C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	964	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		CAGCAGCTACGGCAGCATCTG	0.542																																					p.G964C		.											.	CNTNAP5-524	0			c.G2890T						.						44.0	53.0	50.0					2																	125547619		2109	4236	6345	SO:0001583	missense	129684	exon18			AGCTACGGCAGCA	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.2890G>T	2.37:g.125547619G>T	ENSP00000399013:p.Gly964Cys	204	1		304	100	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061409	0.36373	.	.	ENSG00000155052	ENST00000431078	T	0.76709	-1.04	5.24	2.38	0.29361	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.118803	0.37136	N	0.002238	D	0.88672	0.6500	M	0.92459	3.31	0.30390	N	0.781125	D	0.89917	1.0	D	0.72625	0.978	D	0.85583	0.1241	10	0.72032	D	0.01	.	9.6822	0.40076	0.2305:0.0:0.7695:0.0	.	964	Q8WYK1	CNTP5_HUMAN	C	964	ENSP00000399013:G964C	ENSP00000399013:G964C	G	+	1	0	CNTNAP5	125264089	1.000000	0.71417	0.271000	0.24616	0.259000	0.26198	3.619000	0.54196	0.692000	0.31613	0.655000	0.94253	GGC	.		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	125660460	125660460	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:125660460G>A	ENST00000431078.1	+	22	3799	c.3435G>A	c.(3433-3435)gaG>gaA	p.E1145E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1145	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.E1145D(1)|p.E1145E(1)		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)		ACATTGCAGAGAATCTTGGTT	0.373																																					p.E1145E		.											.	CNTNAP5-524	2	Substitution - Missense(1)|Substitution - coding silent(1)	prostate(1)|endometrium(1)	c.G3435A						.						54.0	54.0	54.0					2																	125660460		1908	4140	6048	SO:0001630	splice_region_variant	129684	exon22			TGCAGAGAATCTT	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.3434-1G>A	2.37:g.125660460G>A		71	0		85	32	NM_130773	0	0	0	0	0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																			.		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Silent
POTEF	728378	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:130877801G>T	ENST00000409914.2	-	3	687	c.288C>A	c.(286-288)aaC>aaA	p.N96K	POTEF_ENST00000361163.4_Missense_Mutation_p.N96K|POTEF_ENST00000360967.5_Missense_Mutation_p.N96K|POTEF_ENST00000357462.5_Missense_Mutation_p.N96K	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	96					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.N96N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612																																					p.N96K		.											.	POTEF-27	2	Substitution - coding silent(2)	lung(2)	c.C288A						.						104.0	128.0	120.0					2																	130877801		2203	4296	6499	SO:0001583	missense	728378	exon3			CATCTTGTTCCTG	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.288C>A	2.37:g.130877801G>T	ENSP00000386786:p.Asn96Lys	343	1		536	67	NM_001099771	0	0	0	0	0	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	5.116	0.206951	0.09704	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76578	-1.03;-1.03;1.8;1.8	0.562	-1.12	0.09808	.	.	.	.	.	T	0.53818	0.1820	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.41378	-0.9512	8	0.72032	D	0.01	.	.	.	.	.	96	A5A3E0	POTEF_HUMAN	K	96	ENSP00000350052:N96K;ENSP00000386786:N96K;ENSP00000354232:N96K;ENSP00000355012:N96K	ENSP00000350052:N96K	N	-	3	2	POTEF	130594271	0.003000	0.15002	0.085000	0.20634	0.092000	0.18411	-0.155000	0.10115	-0.407000	0.07576	0.074000	0.15403	AAC	.		0.612	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
IMP4	92856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	131103419	131103419	+	Missense_Mutation	SNP	G	G	T	rs200939050		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:131103419G>T	ENST00000259239.3	+	6	1215	c.507G>T	c.(505-507)atG>atT	p.M169I	IMP4_ENST00000409935.1_Missense_Mutation_p.M169I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	169	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.M169I(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ATGTGGTCATGCGGCATGACA	0.637																																					p.M169I		.											.	IMP4-90	1	Substitution - Missense(1)	endometrium(1)	c.G507T						.						96.0	87.0	90.0					2																	131103419		2203	4300	6503	SO:0001583	missense	92856	exon6			GGTCATGCGGCAT	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.507G>T	2.37:g.131103419G>T	ENSP00000259239:p.Met169Ile	79	0		134	55	NM_033416	0	0	50	89	39	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.156451|5.156451	0.94686|0.94686	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000452955|ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	.|T;T;T;T	.|0.21543	.|2.0;2.0;2.0;2.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Brix domain (3);Anticodon-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41858|0.41858	0.1177|0.1177	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	.|B	.|0.27997	.|0.197	.|B	.|0.40982	.|0.345	T|T	0.41945|0.41945	-0.9480|-0.9480	5|10	.|0.72032	.|D	.|0.01	-53.3595|-53.3595	17.1402|17.1402	0.86750|0.86750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|169	.|Q96G21	.|IMP4_HUMAN	F|I	158|169;169;84;114	.|ENSP00000259239:M169I;ENSP00000386411:M169I;ENSP00000386716:M84I;ENSP00000389701:M114I	.|ENSP00000259239:M169I	C|M	+|+	2|3	0|0	IMP4|IMP4	130819889|130819889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.776000|8.776000	0.91776|0.91776	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	TGC|ATG	.		0.637	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416	
ANKRD30BL	554226	bcgsc.ca	37	2	133014602	133014602	+	Intron	SNP	G	G	C	rs75245503	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:133014602G>C	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GCCACAGACAGGAGGGAGGTA	0.721																																					.		.											.	.	0			.						.						27.0	45.0	39.0					2																	133014602		1553	3578	5131	SO:0001627	intron_variant	100313824	.			CAGACAGGAGGGA			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+499C>G	2.37:g.133014602G>C		30	2		144	40	.	0	0	0	0	0	B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																				G|0.500;C|0.500		0.721	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
ANKRD30BL	554226	bcgsc.ca	37	2	133014612	133014612	+	Intron	SNP	A	A	C	rs199913868|rs74853538	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:133014612A>C	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGAGGGAGGTACCGCAGCGAC	0.716																																					.		.											.	.	0			.						.						27.0	46.0	40.0					2																	133014612		1553	3577	5130	SO:0001627	intron_variant	100313824	.			GGAGGTACCGCAG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+489T>G	2.37:g.133014612A>C		34	2		171	53	.	0	0	0	0	0	B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																				A|0.333;C|0.667		0.716	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
RAB3GAP1	22930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	135922249	135922249	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:135922249delT	ENST00000264158.8	+	23	2735	c.2692delT	c.(2692-2694)tttfs	p.F898fs	RAB3GAP1_ENST00000539493.1_Frame_Shift_Del_p.F854fs|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Frame_Shift_Del_p.F898fs|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	898					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCACAAGCTGTTTGTGAATGC	0.498																																					p.F898fs		.											.	RAB3GAP1-92	0			c.2692delT						.						105.0	89.0	94.0					2																	135922249		2203	4300	6503	SO:0001589	frameshift_variant	22930	exon23			AAGCTGTTTGTGA	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2692delT	2.37:g.135922249delT	ENSP00000264158:p.Phe898fs	84	0		135	17	NM_001172435	0	0	0	0	0	A6H8Z3|C9J837|Q659F5|Q8TBB4	Frame_Shift_Del	DEL	ENST00000264158.8	37	CCDS33294.1																																																																																			.		0.498	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
ZEB2	9839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	145153988	145153988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:145153988C>A	ENST00000558170.2	-	9	4242	c.3058G>T	c.(3058-3060)Gaa>Taa	p.E1020*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1020*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E996*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1020*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1020					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTGTGTGTTCGTATTTATGT	0.413																																					p.E1020X	Melanoma(33;1235 1264 5755 16332)	.											.	ZEB2-297	0			c.G3058T						.						320.0	283.0	295.0					2																	145153988		2203	4300	6503	SO:0001587	stop_gained	9839	exon9			TGTGTTCGTATTT	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3058G>T	2.37:g.145153988C>A	ENSP00000454157:p.Glu1020*	199	0		315	88	NM_014795	0	0	0	0	0	A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	44	10.659469	0.99445	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.3437	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	X	996;1020;1020	.	ENSP00000302501:E1020X	E	-	1	0	ZEB2	144870458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.820000	0.97059	0.650000	0.86243	GAA	.		0.413	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ACVR1	90	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	158626945	158626945	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:158626945T>A	ENST00000263640.3	-	7	1154	c.725A>T	c.(724-726)gAg>gTg	p.E242V	ACVR1_ENST00000409283.2_Missense_Mutation_p.E242V|ACVR1_ENST00000410057.2_Missense_Mutation_p.E242V|ACVR1_ENST00000434821.1_Missense_Mutation_p.E242V	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|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)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCATGACTTCTCATCACGGGA	0.458																																					p.E242V		.											.	ACVR1-980	0			c.A725T						.						206.0	175.0	185.0					2																	158626945		2203	4300	6503	SO:0001583	missense	90	exon7			GACTTCTCATCAC		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.725A>T	2.37:g.158626945T>A	ENSP00000263640:p.Glu242Val	99	0		161	53	NM_001105	0	0	3	4	1		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015598	0.93404	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81475	-0.0916	10	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	242	Q04771	ACVR1_HUMAN	V	242	ENSP00000263640:E242V;ENSP00000387273:E242V;ENSP00000405004:E242V;ENSP00000387127:E242V	ENSP00000263640:E242V	E	-	2	0	ACVR1	158335191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	GAG	.		0.458	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166152582	166152582	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:166152582C>A	ENST00000375437.2	+	2	539	c.249C>A	c.(247-249)ccC>ccA	p.P83P	SCN2A_ENST00000283256.6_Silent_p.P83P|SCN2A_ENST00000357398.3_Silent_p.P83P|SCN2A_ENST00000375427.2_Silent_p.P83P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTGGACCCCTACTATATCA	0.448																																					p.P83P		.											.	SCN2A-142	0			c.C249A						.						94.0	91.0	92.0					2																	166152582		2203	4300	6503	SO:0001819	synonymous_variant	6326	exon1			GGACCCCTACTAT	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.249C>A	2.37:g.166152582C>A		146	0		157	62	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SESTD1	91404	bcgsc.ca	37	2	179979930	179979930	+	Silent	SNP	T	T	C	rs2289993	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:179979930T>C	ENST00000428443.3	-	16	2017	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	567							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCGCAAAGATTGGCATAACA	0.388													T|||	972	0.194089	0.2882	0.1081	5008	,	,		17715	0.0645		0.166	False		,,,				2504	0.2904				p.Q567Q		.											.	SESTD1-228	0			c.A1701G						.	T		1082,3324	391.7+/-328.2	128,826,1249	71.0	63.0	66.0		1701	0.9	1.0	2	dbSNP_100	66	1358,7242	265.8+/-286.4	112,1134,3054	no	coding-synonymous	SESTD1	NM_178123.4		240,1960,4303	CC,CT,TT		15.7907,24.5574,18.7606		567/697	179979930	2440,10566	2203	4300	6503	SO:0001819	synonymous_variant	91404	exon16			CAAAGATTGGCAT	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1701A>G	2.37:g.179979930T>C		92	1		151	5	NM_178123	0	0	10	10	0	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	CCDS33338.1																																																																																			T|0.810;C|0.190		0.388	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
ITGA4	3676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	182374441	182374441	+	Silent	SNP	T	T	A	rs201546110		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:182374441T>A	ENST00000397033.2	+	16	2182	c.1752T>A	c.(1750-1752)ggT>ggA	p.G584G		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	584					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)	ACCACCTTGGTCCTCATGTCA	0.398																																					p.G584G		.											.	ITGA4-230	0			c.T1752A						.						126.0	112.0	116.0					2																	182374441		1873	4106	5979	SO:0001819	synonymous_variant	3676	exon16			CCTTGGTCCTCAT		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.1752T>A	2.37:g.182374441T>A		76	1		81	14	NM_000885	0	0	2	3	1	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																			.		0.398	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
PDE1A	5136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	183088596	183088596	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:183088596C>T	ENST00000410103.1	-	8	902	c.819G>A	c.(817-819)caG>caA	p.Q273Q	PDE1A_ENST00000351439.5_Silent_p.Q257Q|PDE1A_ENST00000346717.4_Silent_p.Q239Q|PDE1A_ENST00000482538.1_5'Flank|PDE1A_ENST00000435564.1_Silent_p.Q273Q|PDE1A_ENST00000536095.1_Silent_p.Q169Q|PDE1A_ENST00000409365.1_Silent_p.Q257Q|PDE1A_ENST00000331935.6_Silent_p.Q273Q|PDE1A_ENST00000358139.2_Silent_p.Q273Q|PDE1A_ENST00000456212.1_Silent_p.Q273Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	273	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTTACCTTGTCTGAATGTGAA	0.308																																					p.Q277Q		.											.	PDE1A-93	0			c.G831A						.						68.0	64.0	65.0					2																	183088596		2203	4298	6501	SO:0001819	synonymous_variant	5136	exon8			CCTTGTCTGAATG		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.819G>A	2.37:g.183088596C>T		126	0		118	34	NM_001258312	0	0	0	0	0	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	CCDS33344.1																																																																																			.		0.308	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
PDE1A	5136	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	183088641	183088641	+	Missense_Mutation	SNP	A	A	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:183088641A>C	ENST00000410103.1	-	8	857	c.774T>G	c.(772-774)atT>atG	p.I258M	PDE1A_ENST00000351439.5_Missense_Mutation_p.I242M|PDE1A_ENST00000346717.4_Missense_Mutation_p.I224M|PDE1A_ENST00000482538.1_5'Flank|PDE1A_ENST00000435564.1_Missense_Mutation_p.I258M|PDE1A_ENST00000536095.1_Missense_Mutation_p.I154M|PDE1A_ENST00000409365.1_Missense_Mutation_p.I242M|PDE1A_ENST00000331935.6_Missense_Mutation_p.I258M|PDE1A_ENST00000358139.2_Missense_Mutation_p.I258M|PDE1A_ENST00000456212.1_Missense_Mutation_p.I258M	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	258	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CATAATCATGAATGGCAGCAG	0.318																																					p.I262M		.											.	PDE1A-93	0			c.T786G						.						76.0	71.0	73.0					2																	183088641		2203	4299	6502	SO:0001583	missense	5136	exon8			ATCATGAATGGCA		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.774T>G	2.37:g.183088641A>C	ENSP00000387037:p.Ile258Met	172	1		190	59	NM_001258312	0	0	0	0	0	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172388	0.57584	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.97	3.67	0.42095	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.048254	0.85682	D	0.000000	D	0.87442	0.6178	M	0.74467	2.265	0.54753	D	0.999986	P;P;B;P;P	0.52577	0.658;0.954;0.438;0.821;0.527	P;D;P;P;P	0.63488	0.582;0.915;0.555;0.813;0.447	D	0.87268	0.2284	10	0.87932	D	0	.	5.6858	0.17803	0.7485:0.0:0.2515:0.0	.	154;224;258;242;258	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	M	258;224;154;242;258;242;258;258;258	ENSP00000410309:I258M;ENSP00000329112:I224M;ENSP00000439938:I154M;ENSP00000386767:I242M;ENSP00000331574:I258M;ENSP00000309269:I242M;ENSP00000387037:I258M;ENSP00000350858:I258M;ENSP00000408874:I258M	ENSP00000331574:I258M	I	-	3	3	PDE1A	182796886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.288000	0.76882	0.533000	0.62120	ATT	.		0.318	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
SF3B1	23451	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	198257760	198257760	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:198257760A>G	ENST00000335508.6	-	24	3783	c.3692T>C	c.(3691-3693)aTg>aCg	p.M1231T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1231					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGGGCTCCCATAACTGCCTG	0.383			Mis		myelodysplastic syndrome																																p.M1231T		.		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	SF3B1-140	0			c.T3692C						.						98.0	92.0	94.0					2																	198257760		2203	4300	6503	SO:0001583	missense	23451	exon24			GCTCCCATAACTG	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3692T>C	2.37:g.198257760A>G	ENSP00000335321:p.Met1231Thr	261	1		279	96	NM_012433	0	0	199	362	163	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834236	0.50951	.	.	ENSG00000115524	ENST00000335508	T	0.64260	-0.09	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	L	0.45698	1.435	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.54159	-0.8335	10	0.46703	T	0.11	.	15.4003	0.74834	1.0:0.0:0.0:0.0	.	1231	O75533	SF3B1_HUMAN	T	1231	ENSP00000335321:M1231T	ENSP00000335321:M1231T	M	-	2	0	SF3B1	197966005	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.268000	0.95675	2.059000	0.61396	0.402000	0.26972	ATG	.		0.383	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	203972654	203972654	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:203972654G>A	ENST00000449802.1	+	13	1938	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	535										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGATTGCTGAGAGTGGATG	0.493																																					p.L535L		.											.	NBEAL1-92	0			c.G1605A						.						78.0	61.0	66.0					2																	203972654		692	1591	2283	SO:0001819	synonymous_variant	65065	exon13			ATTGCTGAGAGTG	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1605G>A	2.37:g.203972654G>A		77	0		109	34	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.493	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
NBEAL1	65065	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	204075696	204075696	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:204075696C>T	ENST00000449802.1	+	53	8047	c.7714C>T	c.(7714-7716)Cat>Tat	p.H2572Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2572										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGCATTACATCTGTTTTC	0.308																																					p.H2572Y		.											.	NBEAL1-92	0			c.C7714T						.						53.0	51.0	51.0					2																	204075696		1810	4065	5875	SO:0001583	missense	65065	exon53			GCATTACATCTGT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7714C>T	2.37:g.204075696C>T	ENSP00000399903:p.His2572Tyr	113	1		70	13	NM_001114132	0	0	1	1	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981791	0.74474	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.27557	5.06;1.66	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048531	0.85682	D	0.000000	T	0.50257	0.1605	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.957;0.999;0.998	P;D;D	0.79784	0.618;0.993;0.99	T	0.42464	-0.9450	10	0.09338	T	0.73	.	18.1895	0.89803	0.0:1.0:0.0:0.0	.	1282;2572;2561	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	Y	2572;2482;587	ENSP00000399903:H2572Y;ENSP00000388466:H587Y	ENSP00000344985:H2482Y	H	+	1	0	NBEAL1	203783941	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.451000	0.80668	2.285000	0.76669	0.491000	0.48974	CAT	.		0.308	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
CRYGA	1418	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	209028275	209028275	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:209028275C>A	ENST00000304502.4	-	1	25	c.6G>T	c.(4-6)ggG>ggT	p.G2G		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	2	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCTCACCTTCCCCATGGTTG	0.498																																					p.G2G		.											.	CRYGA-90	0			c.G6T						.						238.0	199.0	212.0					2																	209028275		2203	4300	6503	SO:0001819	synonymous_variant	1418	exon1			CACCTTCCCCATG		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.6G>T	2.37:g.209028275C>A		203	1		317	129	NM_014617	0	0	0	0	0	Q53ST5	Silent	SNP	ENST00000304502.4	37	CCDS33367.1																																																																																			.		0.498	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617	
CPS1	1373	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	211456582	211456582	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:211456582C>T	ENST00000233072.5	+	10	1171	c.975C>T	c.(973-975)atC>atT	p.I325I	CPS1_ENST00000451903.2_5'Flank|CPS1_ENST00000430249.2_Silent_p.I331I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	325	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TTTTGAATATCACAAACAAAC	0.393																																					p.I331I		.											.	CPS1-162	0			c.C993T						.						83.0	81.0	82.0					2																	211456582		2203	4300	6503	SO:0001819	synonymous_variant	1373	exon11			GAATATCACAAAC	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.975C>T	2.37:g.211456582C>T		31	0		56	21	NM_001122633	0	0	0	0	0	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																			.		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
PECR	55825	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	216930060	216930060	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:216930060C>A	ENST00000265322.7	-	3	473	c.399G>T	c.(397-399)acG>acT	p.T133T	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	133					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)	p.T133T(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGAAGGTACCCGTCAGGTTGG	0.458																																					p.T133T		.											.	PECR-90	1	Substitution - coding silent(1)	lung(1)	c.G399T						.						139.0	132.0	134.0					2																	216930060		2203	4300	6503	SO:0001819	synonymous_variant	55825	exon3			GGTACCCGTCAGG	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.399G>T	2.37:g.216930060C>A		110	0		160	51	NM_018441	0	0	13	27	14	B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Silent	SNP	ENST00000265322.7	37	CCDS33375.1																																																																																			.		0.458	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441	
SPEG	10290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220332029	220332029	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:220332029C>T	ENST00000312358.7	+	10	3147	c.3015C>T	c.(3013-3015)ggC>ggT	p.G1005G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1005	Ig-like 4.				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)		TGTGCCGTGGCCGCCTGCTGC	0.622																																					p.G1005G		.											.	SPEG-383	0			c.C3015T						.						49.0	59.0	56.0					2																	220332029		2147	4247	6394	SO:0001819	synonymous_variant	10290	exon10			CCGTGGCCGCCTG	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.3015C>T	2.37:g.220332029C>T		47	0		105	34	NM_005876	0	0	0	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																			.		0.622	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
CUL3	8452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	225379488	225379488	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:225379488T>A	ENST00000264414.4	-	4	718	c.380A>T	c.(379-381)gAc>gTc	p.D127V	CUL3_ENST00000344951.4_Splice_Site_p.D61V|CUL3_ENST00000409096.1_Splice_Site_p.D103V|CUL3_ENST00000409777.1_Splice_Site_p.D103V|CUL3_ENST00000432260.2_5'UTR	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	127					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATACACACGGTCCTACAGTTA	0.308																																					p.D133V		.											.	CUL3-229	0			c.A398T						.						92.0	79.0	83.0					2																	225379488		2202	4300	6502	SO:0001630	splice_region_variant	8452	exon4			ACACGGTCCTACA	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.379-1A>T	2.37:g.225379488T>A		107	0		128	48	NM_001257198	0	0	0	0	0	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800614	0.90538	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.97587	4.035	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.68765	0.96;0.96;0.96	D	0.95497	0.8574	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	61;105;127	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	V	127;61;103;103	ENSP00000264414:D127V;ENSP00000343601:D61V;ENSP00000387200:D103V;ENSP00000386525:D103V	ENSP00000264414:D127V	D	-	2	0	CUL3	225087732	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAC	.		0.308	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Missense_Mutation
NYAP2	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	226447396	226447396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:226447396C>G	ENST00000272907.6	+	4	1676	c.1263C>G	c.(1261-1263)taC>taG	p.Y421*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	421	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTACGCTGTACCGAACCCAGT	0.662																																					p.Y421X		.											.	.	0			c.C1263G						.						27.0	32.0	31.0					2																	226447396		2039	4166	6205	SO:0001587	stop_gained	57624	exon4			GCTGTACCGAACC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1263C>G	2.37:g.226447396C>G	ENSP00000272907:p.Tyr421*	97	0		210	65	NM_020864	0	0	0	0	0	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	40	8.149090	0.98678	.	.	ENSG00000144460	ENST00000272907	.	.	.	5.19	4.3	0.51218	.	0.065479	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2634	14.1059	0.65088	0.0:0.9263:0.0:0.0737	.	.	.	.	X	421	.	ENSP00000272907:Y421X	Y	+	3	2	KIAA1486	226155640	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.334000	0.43920	2.415000	0.81967	0.563000	0.77884	TAC	.		0.662	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
SPHKAP	80309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	228883966	228883966	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:228883966G>T	ENST00000392056.3	-	7	1650	c.1604C>A	c.(1603-1605)gCa>gAa	p.A535E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A535E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	535						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTTTGCAGTGCACCACTGCT	0.522																																					p.A535E		.											.	SPHKAP-167	0			c.C1604A						.						80.0	70.0	74.0					2																	228883966		2203	4300	6503	SO:0001583	missense	80309	exon7			TGCAGTGCACCAC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1604C>A	2.37:g.228883966G>T	ENSP00000375909:p.Ala535Glu	41	0		60	17	NM_030623	0	0	0	0	0	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250851	0.01469	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.41065	1.01;1.01	5.5	-3.4	0.04853	.	1.503160	0.03566	N	0.227886	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.22591	-1.0212	10	0.02654	T	1	.	5.0606	0.14555	0.289:0.0:0.1763:0.5347	.	535;535	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	535	ENSP00000375909:A535E;ENSP00000339886:A535E	ENSP00000339886:A535E	A	-	2	0	SPHKAP	228592210	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.209000	0.17435	-0.396000	0.07703	0.655000	0.94253	GCA	.		0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TRPM8	79054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234878408	234878408	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr2:234878408C>G	ENST00000324695.4	+	16	2135	c.2095C>G	c.(2095-2097)Ctg>Gtg	p.L699V	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	699					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TATCCTGTGTCTGTTTATTAT	0.428																																					p.L699V		.											.	TRPM8-94	0			c.C2095G						.						230.0	205.0	213.0					2																	234878408		2203	4300	6503	SO:0001583	missense	79054	exon16			CTGTGTCTGTTTA	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2095C>G	2.37:g.234878408C>G	ENSP00000323926:p.Leu699Val	230	0		257	106	NM_024080	0	0	0	0	0	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473481	0.63737	.	.	ENSG00000144481	ENST00000324695	T	0.63913	-0.07	5.37	4.47	0.54385	.	0.137318	0.33457	N	0.004895	T	0.73249	0.3563	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.74765	-0.3554	10	0.62326	D	0.03	-12.9936	12.0539	0.53522	0.0:0.9126:0.0:0.0874	.	699	Q7Z2W7	TRPM8_HUMAN	V	699	ENSP00000323926:L699V	ENSP00000323926:L699V	L	+	1	2	TRPM8	234543147	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.876000	0.39588	1.221000	0.43506	0.460000	0.39030	CTG	.		0.428	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
CPXM1	56265	hgsc.bcm.edu	37	20	2781078	2781078	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:2781078G>T	ENST00000380605.2	-	1	205	c.141C>A	c.(139-141)agC>agA	p.S47R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	47					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCTGTGCCGGGCTGCTATGCA	0.756																																					p.S47R		.											.	CPXM1-94	0			c.C141A						.						5.0	7.0	6.0					20																	2781078		2113	4074	6187	SO:0001583	missense	56265	exon1			TGCCGGGCTGCTA	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.141C>A	20.37:g.2781078G>T	ENSP00000369979:p.Ser47Arg	4	0		38	27	NM_001184699	0	0	0	2	2	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527669	0.27299	.	.	ENSG00000088882	ENST00000380605	D	0.95518	-3.73	3.94	1.96	0.26148	.	1.071750	0.07309	N	0.875541	D	0.90007	0.6880	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.80271	-0.1452	10	0.49607	T	0.09	-10.551	4.8895	0.13719	0.1122:0.0:0.6785:0.2093	.	47;47	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	R	47	ENSP00000369979:S47R	ENSP00000369979:S47R	S	-	3	2	CPXM1	2729078	0.015000	0.18098	0.054000	0.19295	0.002000	0.02628	1.123000	0.31308	0.437000	0.26423	-1.337000	0.01257	AGC	.		0.756	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
LZTS3	9762	hgsc.bcm.edu	37	20	3145553	3145553	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:3145553G>A	ENST00000329152.3	-	3	2966	c.1569C>T	c.(1567-1569)ccC>ccT	p.P523P	LZTS3_ENST00000360342.3_Silent_p.P477P|LZTS3_ENST00000337576.5_Silent_p.P477P			O60299	LZTS3_HUMAN		523						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CCGGGTCCACGGGGGTCAGCG	0.706																																					p.P523P		.											.	.	0			c.C1569T						.						4.0	6.0	5.0					20																	3145553		2049	4022	6071	SO:0001819	synonymous_variant	0	exon3			GTCCACGGGGGTC																												ENST00000329152.3:c.1569C>T	20.37:g.3145553G>A		0	0		13	9	NM_014731	0	0	0	1	1	A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	CCDS13049.1																																																																																			.		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2		
PLCB4	5332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	9360778	9360778	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:9360778G>T	ENST00000378493.1	+	10	837	c.822G>T	c.(820-822)atG>atT	p.M274I	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M274I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M274I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M274I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M274I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M274I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	274					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						TCATTGAGATGTATGAACCTG	0.299																																					p.M274I		.											.	PLCB4-274	0			c.G822T						.						60.0	57.0	58.0					20																	9360778		2203	4297	6500	SO:0001583	missense	5332	exon11			TGAGATGTATGAA		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.822G>T	20.37:g.9360778G>T	ENSP00000367754:p.Met274Ile	251	0		223	67	NM_182797	0	0	0	0	0	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140361	0.37825	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.41	4.35	0.52113	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.245662	0.47455	D	0.000232	T	0.16599	0.0399	N	0.03608	-0.345	0.27492	N	0.952246	B;B;B;B	0.11235	0.004;0.0;0.002;0.001	B;B;B;B	0.14023	0.003;0.004;0.01;0.002	T	0.03000	-1.1084	10	0.51188	T	0.08	.	1.9466	0.03358	0.1205:0.1663:0.4395:0.2737	.	274;121;274;274	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	274;274;274;274;274;110	ENSP00000334105:M274I;ENSP00000367734:M274I;ENSP00000278655:M274I;ENSP00000367754:M274I;ENSP00000367762:M274I;ENSP00000390616:M110I	ENSP00000278655:M274I	M	+	3	0	PLCB4	9308778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.424000	0.44714	2.696000	0.92011	0.650000	0.86243	ATG	.		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																					p.Q269Q		.											.	NCOA6-292	15	Substitution - coding silent(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	c.G807A						.						64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054	exon7			CTGCTGCTGTTGT	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T		63	3		85	4	NM_014071	0	0	0	0	0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																			.		0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
CEP250	11190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34063418	34063418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:34063418G>T	ENST00000397527.1	+	15	2383	c.1663G>T	c.(1663-1665)Gaa>Taa	p.E555*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E555*|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	555	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)			AAGTCACCTGGAAGGGGAGTT	0.567																																					p.E555X		.											.	CEP250-27	0			c.G1663T						.						155.0	141.0	146.0					20																	34063418		2203	4300	6503	SO:0001587	stop_gained	11190	exon15			CACCTGGAAGGGG	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.1663G>T	20.37:g.34063418G>T	ENSP00000380661:p.Glu555*	101	0		146	58	NM_007186	0	0	0	0	0	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.053224|6.053224	0.97241|0.97241	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	.|.	.|.	.|.	5.23|5.23	4.24|4.24	0.50183|0.50183	.|.	0.256331|.	0.27147|.	N|.	0.020716|.	.|T	.|0.62478	.|0.2431	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68292	.|-0.5447	.|3	0.62326|.	D|.	0.03|.	.|.	13.0575|13.0575	0.58988|0.58988	0.0:0.2532:0.7468:0.0|0.0:0.2532:0.7468:0.0	.|.	.|.	.|.	.|.	X|V	555;555;554|68	.|.	ENSP00000341541:E555X|.	E|G	+|+	1|2	0|0	CEP250|CEP250	33526832|33526832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.036000|3.036000	0.49767|0.49767	2.716000|2.716000	0.92895|0.92895	0.563000|0.563000	0.77884|0.77884	GAA|GGA	.		0.567	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
ACTR5	79913	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	37383613	37383613	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:37383613G>T	ENST00000243903.4	+	4	826	c.789G>T	c.(787-789)tgG>tgT	p.W263C		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	263					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TACACAAATGGCGGTGTCCTG	0.413																																					p.W263C		.											.	ACTR5-90	0			c.G789T						.						60.0	65.0	63.0					20																	37383613		2203	4300	6503	SO:0001583	missense	79913	exon4			CAAATGGCGGTGT	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.789G>T	20.37:g.37383613G>T	ENSP00000243903:p.Trp263Cys	213	1		193	60	NM_024855	0	0	1	5	4	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168818	0.78339	.	.	ENSG00000101442	ENST00000243903	T	0.07800	3.16	5.85	5.85	0.93711	.	0.053378	0.85682	D	0.000000	T	0.32763	0.0840	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00896	-1.1523	10	0.72032	D	0.01	-15.3214	20.153	0.98091	0.0:0.0:1.0:0.0	.	263	Q9H9F9	ARP5_HUMAN	C	263	ENSP00000243903:W263C	ENSP00000243903:W263C	W	+	3	0	ACTR5	36817027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.956000	0.93066	2.773000	0.95371	0.650000	0.86243	TGG	.		0.413	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
WISP2	8839	hgsc.bcm.edu	37	20	43348735	43348735	+	Silent	SNP	C	C	A	rs2296530	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:43348735C>A	ENST00000372868.2	+	3	601	c.258C>A	c.(256-258)ggC>ggA	p.G86G	WISP2_ENST00000372865.4_Silent_p.G86G|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.G86G			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	86	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GACCCGGTGGCCGGGGGGCCC	0.706													C|||	1984	0.396166	0.4803	0.4452	5008	,	,		15685	0.3909		0.339	False		,,,				2504	0.3119				p.G86G		.											.	WISP2-130	0			c.C258A						.	C		1905,2317		492,921,698	5.0	5.0	5.0		258	5.5	0.1	20	dbSNP_100	5	2588,5598		519,1550,2024	no	coding-synonymous	WISP2	NM_003881.2		1011,2471,2722	AA,AC,CC		31.615,45.1208,36.2105		86/251	43348735	4493,7915	2111	4093	6204	SO:0001819	synonymous_variant	8839	exon2			CGGTGGCCGGGGG	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.258C>A	20.37:g.43348735C>A		0	0		7	4	NM_003881	0	0	0	0	0	B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	CCDS13336.1																																																																																			C|0.615;A|0.385		0.706	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
SEMG2	6407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43850726	43850726	+	Silent	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:43850726T>A	ENST00000372769.3	+	2	543	c.453T>A	c.(451-453)tcT>tcA	p.S151S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	151	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)				ATAGCCCATCTGGAAAGGGAT	0.403																																					p.S151S		.											.	SEMG2-91	0			c.T453A						.						100.0	89.0	93.0					20																	43850726		2203	4300	6503	SO:0001819	synonymous_variant	6407	exon2			CCCATCTGGAAAG		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.453T>A	20.37:g.43850726T>A		238	0		264	104	NM_003008	0	0	0	0	0	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	CCDS13346.1																																																																																			.		0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47630130	47630130	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:47630130G>A	ENST00000371917.4	+	29	3948	c.3948G>A	c.(3946-3948)atG>atA	p.M1316I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1316					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTGATGACATGAATGTAGCTC	0.423																																					p.M1316I	Esophageal Squamous(176;1738 1974 26285 33069 35354)	.											.	ARFGEF2-358	0			c.G3948A						.						138.0	134.0	135.0					20																	47630130		2203	4300	6503	SO:0001583	missense	10564	exon29			TGACATGAATGTA	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3948G>A	20.37:g.47630130G>A	ENSP00000360985:p.Met1316Ile	89	0		151	50	NM_006420	0	0	1	1	0	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037541	0.54896	.	.	ENSG00000124198	ENST00000371917	T	0.43688	0.94	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	N	0.16368	0.405	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04413	-1.0953	10	0.37606	T	0.19	.	19.825	0.96614	0.0:0.0:1.0:0.0	.	1316	Q9Y6D5	BIG2_HUMAN	I	1316	ENSP00000360985:M1316I	ENSP00000360985:M1316I	M	+	3	0	ARFGEF2	47063537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.876000	0.87215	2.689000	0.91719	0.491000	0.48974	ATG	.		0.423	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
KCNB1	3745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47990374	47990374	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:47990374G>C	ENST00000371741.4	-	2	1889	c.1723C>G	c.(1723-1725)Cgc>Ggc	p.R575G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	575					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CCTTCTGTGCGAGTGGGCAGA	0.527																																					p.R575G		.											.	KCNB1-92	0			c.C1723G						.						84.0	75.0	78.0					20																	47990374		2203	4300	6503	SO:0001583	missense	3745	exon2			CTGTGCGAGTGGG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1723C>G	20.37:g.47990374G>C	ENSP00000360806:p.Arg575Gly	96	0		117	34	NM_004975	0	0	0	0	0	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721717	0.30503	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.24908	1.83	6.07	6.07	0.98685	.	0.882202	0.10201	N	0.703410	T	0.27967	0.0689	L	0.38531	1.155	0.48185	D	0.999604	B	0.12013	0.005	B	0.10450	0.005	T	0.10222	-1.0639	10	0.29301	T	0.29	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	575	Q14721	KCNB1_HUMAN	G	575;530	ENSP00000360806:R575G	ENSP00000360806:R575G	R	-	1	0	KCNB1	47423781	0.979000	0.34478	0.974000	0.42286	0.994000	0.84299	3.229000	0.51278	2.884000	0.98904	0.655000	0.94253	CGC	.		0.527	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
TSHZ2	128553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	51872153	51872153	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:51872153C>A	ENST00000371497.5	+	2	3043	c.2156C>A	c.(2155-2157)tCc>tAc	p.S719Y	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S716Y|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S716Y|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	719					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCTTCCTGCTCCAGCCCAAGT	0.582																																					p.S719Y		.											.	TSHZ2-232	0			c.C2156A						.						72.0	67.0	69.0					20																	51872153		2203	4300	6503	SO:0001583	missense	128553	exon2			CCTGCTCCAGCCC	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2156C>A	20.37:g.51872153C>A	ENSP00000360552:p.Ser719Tyr	72	0		163	55	NM_173485	0	0	0	0	0	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476520	0.44044	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38887	1.11;1.11	5.72	4.76	0.60689	.	0.629307	0.17442	N	0.174096	T	0.42653	0.1212	M	0.66939	2.045	0.51012	D	0.9999	P	0.39624	0.681	B	0.34536	0.185	T	0.49051	-0.8979	10	0.87932	D	0	-18.9423	14.839	0.70209	0.0:0.7286:0.2714:0.0	.	719	Q9NRE2	TSH2_HUMAN	Y	719;716;245	ENSP00000360552:S719Y;ENSP00000333114:S716Y	ENSP00000333114:S716Y	S	+	2	0	TSHZ2	51305560	0.922000	0.31269	0.987000	0.45799	0.998000	0.95712	3.338000	0.52128	1.382000	0.46385	0.643000	0.83706	TCC	.		0.582	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
MC3R	4159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	54824215	54824215	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:54824215C>A	ENST00000243911.2	+	1	428	c.316C>A	c.(316-318)Ctg>Atg	p.L106M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	106					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CAGCGACTACCTGACCTTCGA	0.557																																					p.L106M		.											.	MC3R-660	0			c.C316A						.						137.0	102.0	114.0					20																	54824215		2203	4300	6503	SO:0001583	missense	4159	exon1			GACTACCTGACCT		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.316C>A	20.37:g.54824215C>A	ENSP00000243911:p.Leu106Met	281	0		492	178	NM_019888	0	0	0	0	0	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421452	0.42918	.	.	ENSG00000124089	ENST00000243911	T	0.22336	1.96	4.68	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.252732	0.26546	U	0.023774	T	0.39600	0.1084	M	0.77103	2.36	0.33041	D	0.531401	D	0.62365	0.991	D	0.64877	0.93	T	0.53472	-0.8434	10	0.72032	D	0.01	.	6.4254	0.21766	0.0:0.7002:0.0:0.2998	.	143	P41968	MC3R_HUMAN	M	106	ENSP00000243911:L106M	ENSP00000243911:L106M	L	+	1	2	MC3R	54257622	0.968000	0.33430	0.866000	0.34008	0.806000	0.45545	1.907000	0.39897	2.287000	0.76781	0.650000	0.86243	CTG	.		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57430199	57430199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:57430199C>T	ENST00000371100.4	+	1	2431	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q627*|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q627*|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.P563P|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAGAGTCCCCAGCCCAAAGC	0.627			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.Q627X	Colon(117;935 1597 6045 8307 46442)	.		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	.	GNAS-4767	0			c.C1879T						.						24.0	28.0	27.0					20																	57430199		1973	4157	6130	SO:0001587	stop_gained	2778	exon1			AGTCCCCAGCCCA	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1879C>T	20.37:g.57430199C>T	ENSP00000360141:p.Gln627*	108	0		112	34	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.530685|3.530685	0.64860|0.64860	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371099;ENST00000371100;ENST00000371102	D|.	0.88896|.	-2.44|.	3.84|3.84	-2.13|-2.13	0.07144|0.07144	.|.	.|5.153130	.|0.00935	.|N	.|0.002768	T|.	0.51466|.	0.1676|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56111|.	-0.8033|.	6|.	0.49607|0.46703	T|T	0.09|0.11	.|.	15.318|15.318	0.74095|0.74095	0.0:0.2501:0.7499:0.0|0.0:0.2501:0.7499:0.0	.|.	.|.	.|.	.|.	L|X	13|627	ENSP00000412424:P13L|.	ENSP00000412424:P13L|ENSP00000360140:Q627X	P|Q	+|+	2|1	0|0	GNAS|GNAS	56863594|56863594	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.091000|0.091000	0.18340|0.18340	0.391000|0.391000	0.20784|0.20784	-0.446000|-0.446000	0.07149|0.07149	-0.502000|-0.502000	0.04539|0.04539	CCA|CAG	.		0.627	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57768876	57768876	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:57768876T>A	ENST00000371030.2	+	1	2802	c.2802T>A	c.(2800-2802)gaT>gaA	p.D934E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	934							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTGGCAGATAATGCCTTTT	0.627																																					p.D934E		.											.	ZNF831-126	0			c.T2802A						.						66.0	66.0	66.0					20																	57768876		1973	4159	6132	SO:0001583	missense	128611	exon1			GGCAGATAATGCC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2802T>A	20.37:g.57768876T>A	ENSP00000360069:p.Asp934Glu	49	0		60	20	NM_178457	0	0	0	0	0	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606804	0.66558	.	.	ENSG00000124203	ENST00000371030	T	0.05580	3.42	4.75	0.102	0.14522	.	0.377447	0.22945	N	0.053737	T	0.03178	0.0093	L	0.32530	0.975	0.09310	N	1	P	0.39480	0.675	B	0.33960	0.173	T	0.38329	-0.9666	10	0.25751	T	0.34	-10.7006	1.1966	0.01876	0.1511:0.3554:0.1318:0.3617	.	934	Q5JPB2	ZN831_HUMAN	E	934	ENSP00000360069:D934E	ENSP00000360069:D934E	D	+	3	2	ZNF831	57202271	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	-2.207000	0.01230	-0.069000	0.12931	-0.119000	0.15052	GAT	.		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
HELZ2	85441	hgsc.bcm.edu	37	20	62194713	62194713	+	Missense_Mutation	SNP	A	A	C	rs3810486	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr20:62194713A>C	ENST00000467148.1	-	8	5531	c.5462T>G	c.(5461-5463)cTg>cGg	p.L1821R	HELZ2_ENST00000427522.2_Missense_Mutation_p.L1252R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1821			L -> R (in dbSNP:rs3810486).		cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCACGGCCAGGGTGTGTGG	0.726													C|||	1226	0.244808	0.0575	0.1023	5008	,	,		15371	0.5923		0.1948	False		,,,				2504	0.2924				p.L1821R		.											.	.	0			c.T5462G						.	C	ARG/LEU,ARG/LEU	196,3498		4,188,1655	3.0	3.0	3.0		5462,3755	-2.5	0.0	20	dbSNP_107	3	895,6669		51,793,2938	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	102,102	55,981,4593	CC,CA,AA		11.8324,5.3059,9.6909	benign,benign	1821/2650,1252/2081	62194713	1091,10167	1847	3782	5629	SO:0001583	missense	85441	exon9			ACGGCCAGGGTGT	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5462T>G	20.37:g.62194713A>C	ENSP00000417401:p.Leu1821Arg	2	0		16	10	NM_001037335	0	0	2	2	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	575	0.2632783882783883	23	0.046747967479674794	44	0.12154696132596685	352	0.6153846153846154	156	0.20580474934036938	C	7.173	0.588046	0.13812	0.053059	0.118324	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79033	-1.23;-1.15	4.54	-2.49	0.06403	.	2.710140	0.01204	N	0.007649	T	0.00012	0.0000	N	0.00347	-1.61	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	9	0.18710	T	0.47	0.0741	1.1162	0.01714	0.3228:0.32:0.1009:0.2562	rs3810486	1821;1252	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	1252;1821	ENSP00000393257:L1252R;ENSP00000417401:L1821R	ENSP00000393257:L1252R	L	-	2	0	RP4-697K14.7	61665157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.101000	0.15251	-0.351000	0.08249	-0.323000	0.08544	CTG	A|0.739;C|0.261		0.726	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
GRIK1	2897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	30959761	30959761	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:30959761G>T	ENST00000399907.1	-	12	2129	c.1718C>A	c.(1717-1719)cCc>cAc	p.P573H	GRIK1_ENST00000399913.1_Missense_Mutation_p.P573H|GRIK1_ENST00000535441.1_Missense_Mutation_p.P575H|GRIK1_ENST00000389125.3_Missense_Mutation_p.P558H|GRIK1_ENST00000399909.1_Missense_Mutation_p.P558H|GRIK1_ENST00000389124.2_Missense_Mutation_p.P573H|GRIK1_ENST00000309434.7_Missense_Mutation_p.P575H|GRIK1_ENST00000327783.4_Missense_Mutation_p.P573H|GRIK1_ENST00000399914.1_Missense_Mutation_p.P558H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	573					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGGAGACAGGGGGTTGAGGAA	0.463																																					p.P573H		.											.	GRIK1-137	0			c.C1718A						.						91.0	77.0	82.0					21																	30959761		2203	4300	6503	SO:0001583	missense	2897	exon12			GACAGGGGGTTGA		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1718C>A	21.37:g.30959761G>T	ENSP00000382791:p.Pro573His	159	0		221	72	NM_000830	0	0	0	0	0	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689199	0.88735	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.09	5.09	0.68999	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.94658	3.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99391	1.0925	10	0.87932	D	0	.	18.6351	0.91374	0.0:0.0:1.0:0.0	.	558;573;558;573;558	E7EPY9;E9PD61;E7EPZ0;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	H	573;558;573;558;575;434;573;573;558;575	ENSP00000327687:P573H;ENSP00000373777:P558H;ENSP00000382797:P573H;ENSP00000382798:P558H;ENSP00000446326:P575H;ENSP00000373776:P573H;ENSP00000382791:P573H;ENSP00000382793:P558H;ENSP00000311646:P575H	ENSP00000311646:P575H	P	-	2	0	GRIK1	29881632	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.593000	0.98250	2.795000	0.96236	0.655000	0.94253	CCC	.		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
KRTAP24-1	643803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	31654682	31654682	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:31654682G>T	ENST00000340345.4	-	1	594	c.569C>A	c.(568-570)cCa>cAa	p.P190Q		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	190						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAACATAATGGTGAGACGTA	0.423																																					p.P190Q		.											.	KRTAP24-1-68	0			c.C569A						.						124.0	120.0	122.0					21																	31654682		1868	4103	5971	SO:0001583	missense	643803	exon1			CATAATGGTGAGA	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.569C>A	21.37:g.31654682G>T	ENSP00000339238:p.Pro190Gln	132	0		143	60	NM_001085455	0	0	0	0	0	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156283	0.38021	.	.	ENSG00000188694	ENST00000340345	T	0.02863	4.13	4.93	4.93	0.64822	.	0.238346	0.33309	N	0.005053	T	0.11580	0.0282	L	0.57536	1.79	0.18873	N	0.999987	D	0.63046	0.992	D	0.69479	0.964	T	0.00978	-1.1493	10	0.72032	D	0.01	-0.7117	14.3377	0.66603	0.0:0.0:1.0:0.0	.	190	Q3LI83	KR241_HUMAN	Q	190	ENSP00000339238:P190Q	ENSP00000339238:P190Q	P	-	2	0	KRTAP24-1	30576553	0.900000	0.30661	0.269000	0.24586	0.145000	0.21501	3.990000	0.56965	2.653000	0.90120	0.563000	0.77884	CCA	.		0.423	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
ERG	2078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	39817408	39817408	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:39817408G>C	ENST00000417133.2	-	4	361	c.176C>G	c.(175-177)cCt>cGt	p.P59R	ERG_ENST00000398905.1_Missense_Mutation_p.P52R|ERG_ENST00000398911.1_Missense_Mutation_p.P59R|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.P52R|ERG_ENST00000429727.2_Missense_Mutation_p.P52R|ERG_ENST00000398910.1_Missense_Mutation_p.P59R|ERG_ENST00000398907.1_Missense_Mutation_p.P52R|ERG_ENST00000453032.2_Intron|ERG_ENST00000442448.1_Missense_Mutation_p.P59R|ERG_ENST00000398919.2_Missense_Mutation_p.P59R	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATCCTGCTGAGGGACGCGTGG	0.567			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																p.P59R	Esophageal Squamous(130;336 1700 3010 3083 40589)	.		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	.	ERG-848	0			c.C176G						.						107.0	86.0	93.0					21																	39817408		2203	4300	6503	SO:0001583	missense	2078	exon4			TGCTGAGGGACGC		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.176C>G	21.37:g.39817408G>C	ENSP00000414150:p.Pro59Arg	238	0		342	120	NM_004449	0	0	2	2	0	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025837	0.75390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T	0.17213	2.35;2.35;2.31;2.34;2.29;2.37;2.34;2.29	5.77	5.77	0.91146	.	0.175061	0.49916	D	0.000124	T	0.39358	0.1075	L	0.52573	1.65	0.80722	D	1	D;P;D;P;P	0.89917	1.0;0.955;0.983;0.907;0.688	D;P;D;P;B	0.91635	0.999;0.707;0.949;0.662;0.165	T	0.01420	-1.1359	10	0.42905	T	0.14	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	52;59;59;59;52	B4E3C5;P11308;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.	R	52;52;52;59;59;59;59;59;52	ENSP00000381877:P52R;ENSP00000381879:P52R;ENSP00000288319:P52R;ENSP00000381882:P59R;ENSP00000414150:P59R;ENSP00000381881:P59R;ENSP00000394694:P59R;ENSP00000381891:P59R	ENSP00000288319:P52R	P	-	2	0	ERG	38739278	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.476000	0.97823	2.715000	0.92844	0.655000	0.94253	CCT	.		0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
DNMT3L	29947	broad.mit.edu;bcgsc.ca	37	21	45676028	45676028	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:45676028G>T	ENST00000418993.1	-	7	1009	c.526C>A	c.(526-528)Ctt>Att	p.L176I	DNMT3L_ENST00000270172.3_Missense_Mutation_p.L176I	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	176					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACATCTCAAGGGGATTCTCC	0.463																																					p.L176I		.											.	DNMT3L-228	0			c.C526A						.						89.0	90.0	90.0					21																	45676028		2203	4300	6503	SO:0001583	missense	29947	exon7			TCTCAAGGGGATT	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.526C>A	21.37:g.45676028G>T	ENSP00000412862:p.Leu176Ile	284	2		261	29	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233873	0.01505	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.77750	-1.12;-1.12;-1.12	3.44	-1.41	0.08941	.	0.454365	0.21106	N	0.080061	T	0.62109	0.2401	L	0.54323	1.7	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.26614	0.071;0.071	T	0.44922	-0.9296	10	0.22706	T	0.39	-3.0001	0.5319	0.00630	0.2778:0.1845:0.35:0.1876	.	176;176	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	I	176;176;161	ENSP00000270172:L176I;ENSP00000412862:L176I;ENSP00000400242:L161I	ENSP00000270172:L176I	L	-	1	0	DNMT3L	44500456	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.285000	0.18883	-0.394000	0.07727	0.462000	0.41574	CTT	.		0.463	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
KRTAP10-8	386681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	46032129	46032129	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr21:46032129G>A	ENST00000334662.2	+	1	134	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CACCTGCACTGGCTCCTCCTG	0.637																																					p.G38S		.											.	KRTAP10-8-153	0			c.G112A						.						89.0	79.0	83.0					21																	46032129		2203	4300	6503	SO:0001583	missense	386681	exon1			TGCACTGGCTCCT	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.112G>A	21.37:g.46032129G>A	ENSP00000335565:p.Gly38Ser	57	0		140	48	NM_198695	0	0	0	0	0	A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.455531	0.00173	.	.	ENSG00000187766	ENST00000334662	T	0.06218	3.33	3.35	-2.62	0.06152	.	.	.	.	.	T	0.02156	0.0067	N	0.05441	-0.05	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.43669	-0.9377	9	0.02654	T	1	.	3.6437	0.08177	0.4494:0.0:0.3782:0.1724	.	38	P60410	KR108_HUMAN	S	38	ENSP00000335565:G38S	ENSP00000335565:G38S	G	+	1	0	KRTAP10-8	44856557	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.337000	0.07852	-1.116000	0.02969	-0.444000	0.05651	GGC	.		0.637	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
TBX1	6899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	19752531	19752531	+	Silent	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:19752531T>C	ENST00000329705.7	+	6	864	c.735T>C	c.(733-735)taT>taC	p.Y245Y	TBX1_ENST00000332710.4_Silent_p.Y245Y|TBX1_ENST00000359500.3_Silent_p.Y245Y	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	245					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ACGTGGTCTATGTGGACCCAC	0.537																																					p.Y245Y		.											.	TBX1-154	0			c.T735C						.						99.0	95.0	96.0					22																	19752531		2203	4300	6503	SO:0001819	synonymous_variant	6899	exon6			GGTCTATGTGGAC	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.735T>C	22.37:g.19752531T>C		170	0		147	97	NM_080647	0	0	0	1	1	C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	CCDS13766.1																																																																																			.		0.537	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647	
SGSM1	129049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	25240890	25240890	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:25240890G>A	ENST00000400359.4	+	3	97	c.90G>A	c.(88-90)gtG>gtA	p.V30V	SGSM1_ENST00000400358.4_Silent_p.V30V	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	30						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGAGGCTGTGACACGCAAGT	0.562																																					p.V30V		.											.	SGSM1-27	0			c.G90A						.						97.0	104.0	102.0					22																	25240890		2190	4299	6489	SO:0001819	synonymous_variant	129049	exon3			GGCTGTGACACGC	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.90G>A	22.37:g.25240890G>A		103	0		145	102	NM_001098497	0	0	0	0	0	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																			.		0.562	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
SEZ6L	23544	hgsc.bcm.edu	37	22	26689105	26689105	+	Silent	SNP	G	G	A	rs17395296	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:26689105G>A	ENST00000248933.6	+	2	923	c.828G>A	c.(826-828)caG>caA	p.Q276Q	SEZ6L_ENST00000403121.1_Silent_p.Q49Q|SEZ6L_ENST00000402979.1_Silent_p.Q49Q|SEZ6L_ENST00000404234.3_Silent_p.Q276Q|SEZ6L_ENST00000529632.2_Silent_p.Q276Q|SEZ6L_ENST00000360929.3_Silent_p.Q276Q|SEZ6L_ENST00000343706.4_Silent_p.Q276Q			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	276					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						ccaccGAGCAGGCACCAGGTA	0.557													G|||	264	0.0527157	0.0076	0.0576	5008	,	,		16971	0.0		0.1352	False		,,,				2504	0.0798				p.Q276Q		.											.	SEZ6L-95	0			c.G828A						.	G	,,,,,	88,4280		1,86,2097	56.0	37.0	44.0		828,828,828,828,828,828	5.0	1.0	22	dbSNP_123	44	1003,7573		54,895,3339	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	55,981,5436	AA,AG,GG		11.6954,2.0147,8.4286	,,,,,	276/1024,276/1014,276/1012,276/950,276/949,276/1025	26689105	1091,11853	2184	4288	6472	SO:0001819	synonymous_variant	23544	exon2			CGAGCAGGCACCA	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.828G>A	22.37:g.26689105G>A		2	0		4	4	NM_021115	0	0	0	0	0	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																			G|0.931;A|0.069		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
SFI1	9814	hgsc.bcm.edu;bcgsc.ca	37	22	31904328	31904328	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:31904328A>G	ENST00000400288.2	+	2	163	c.58A>G	c.(58-60)Att>Gtt	p.I20V	SFI1_ENST00000414585.1_Missense_Mutation_p.I20V|SFI1_ENST00000443011.1_Missense_Mutation_p.I20V|SFI1_ENST00000432498.1_Missense_Mutation_p.I20V|SFI1_ENST00000443326.1_Missense_Mutation_p.I20V|SFI1_ENST00000400289.1_Missense_Mutation_p.I20V|SFI1_ENST00000540643.1_Missense_Mutation_p.I20V	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	20					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCAAAAAGTGATTAAGCAGAG	0.343																																					p.I20V		.											.	SFI1-90	0			c.A58G						.						94.0	87.0	89.0					22																	31904328		1851	4107	5958	SO:0001583	missense	9814	exon2			AAAGTGATTAAGC	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.58A>G	22.37:g.31904328A>G	ENSP00000383145:p.Ile20Val	64	0		48	4	NM_001258327	0	0	0	0	0	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166598	0.21621	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000444859;ENST00000400288	T;T;T;T;T;T;T;T	0.36699	2.99;2.73;2.44;2.28;2.35;2.44;1.24;3.04	3.93	0.585	0.17428	.	.	.	.	.	T	0.18425	0.0442	N	0.08118	0	0.09310	N	1	B;B;B;B;B;P	0.36171	0.314;0.005;0.002;0.002;0.002;0.541	B;B;B;B;B;B	0.40534	0.092;0.002;0.005;0.005;0.005;0.332	T	0.15407	-1.0438	9	0.39692	T	0.17	.	3.1943	0.06628	0.5524:0.2171:0.2305:0.0	.	20;20;20;20;20;20	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	V	20	ENSP00000402679:I20V;ENSP00000443025:I20V;ENSP00000416469:I20V;ENSP00000397148:I20V;ENSP00000401199:I20V;ENSP00000383146:I20V;ENSP00000411793:I20V;ENSP00000383145:I20V	ENSP00000383145:I20V	I	+	1	0	SFI1	30234328	0.024000	0.19004	0.001000	0.08648	0.924000	0.55760	0.051000	0.14141	0.043000	0.15746	0.528000	0.53228	ATT	.		0.343	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38323452	38323452	+	Silent	SNP	G	G	A	rs201808090		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:38323452G>A	ENST00000215957.6	+	9	1626	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	500	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)					ACTCGGAGCCGCCCTCGGCCA	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15497	0.001		0.0	False		,,,				2504	0.0				p.P500P		.											.	MICALL1-153	0			c.G1500A						.						27.0	26.0	26.0					22																	38323452		2203	4300	6503	SO:0001819	synonymous_variant	85377	exon9			GGAGCCGCCCTCG	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.1500G>A	22.37:g.38323452G>A		18	0		44	29	NM_033386	0	0	0	5	5	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257948	0.22965	.	.	ENSG00000100139	ENST00000454685	.	.	.	4.92	-9.83	0.00482	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39761	-0.9598	4	.	.	.	.	1.1106	0.01704	0.2932:0.1484:0.3289:0.2296	.	.	.	.	T	78	.	.	A	+	1	0	MICALL1	36653398	0.005000	0.15991	0.834000	0.33040	0.909000	0.53808	-1.855000	0.01663	-1.772000	0.01292	-0.477000	0.04895	GCC	.		0.687	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
SOX10	6663	broad.mit.edu;bcgsc.ca	37	22	38379397	38379397	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:38379397G>A	ENST00000396884.2	-	2	677	c.395C>T	c.(394-396)gCt>gTt	p.A132V	SOX10_ENST00000360880.2_Missense_Mutation_p.A132V|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	132					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCTGAGCTCAGCGTTGTGCAG	0.667																																					p.A132V	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	.											.	SOX10-650	0			c.C395T						.						33.0	27.0	29.0					22																	38379397		2203	4300	6503	SO:0001583	missense	6663	exon2			AGCTCAGCGTTGT		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.395C>T	22.37:g.38379397G>A	ENSP00000380093:p.Ala132Val	60	2		346	249	NM_006941	0	0	0	0	0	B4DV62|Q6FHW7	Missense_Mutation	SNP	ENST00000396884.2	37	CCDS13964.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200404	0.94997	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	D;D;D	0.98234	-4.81;-4.81;-4.81	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99827	1.1051	10	0.87932	D	0	.	17.1362	0.86740	0.0:0.0:1.0:0.0	.	132	P56693	SOX10_HUMAN	V	132	ENSP00000380093:A132V;ENSP00000354130:A132V;ENSP00000414853:A132V	ENSP00000354130:A132V	A	-	2	0	SOX10	36709343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.424000	0.97464	2.265000	0.75225	0.462000	0.41574	GCT	.		0.667	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941	
EP300	2033	bcgsc.ca	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.E1514K		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	EP300-2011	0			c.G4540A						.						106.0	105.0	105.0					22																	41568590		2203	4300	6503	SO:0001583	missense	2033	exon28	Familial Cancer Database	Broad Thumb-Hallux syndrome	GTTCTGGAAGAAA	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4540G>A	22.37:g.41568590G>A	ENSP00000263253:p.Glu1514Lys	175	4		165	116	NM_001429	0	0	0	8	8	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231000	0.95207	.	.	ENSG00000100393	ENST00000263253	D	0.94417	-3.42	5.96	5.96	0.96718	.	0.000000	0.49305	D	0.000149	D	0.97945	0.9324	M	0.89785	3.06	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.98128	1.0429	10	0.87932	D	0	-12.635	20.422	0.99049	0.0:0.0:1.0:0.0	.	1514	Q09472	EP300_HUMAN	K	1514	ENSP00000263253:E1514K	ENSP00000263253:E1514K	E	+	1	0	EP300	39898536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.832000	0.97577	0.655000	0.94253	GAA	.		0.398	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
SBF1	6305	ucsc.edu;bcgsc.ca	37	22	50901135	50901135	+	Silent	SNP	C	C	A	rs143643893	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr22:50901135C>A	ENST00000390679.3	-	18	2164	c.1980G>T	c.(1978-1980)ccG>ccT	p.P660P	SBF1_ENST00000348911.6_Silent_p.P661P|SBF1_ENST00000380817.3_Silent_p.P660P			O95248	MTMR5_HUMAN	SET binding factor 1	660					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCACCCCCGGGCTCAGCT	0.632																																					p.P660P		.											.	SBF1-90	0			c.G1980T						.						17.0	20.0	19.0					22																	50901135		2053	4185	6238	SO:0001819	synonymous_variant	6305	exon18			CACCCCCGGGCTC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1980G>T	22.37:g.50901135C>A		123	1		195	141	NM_002972	0	0	0	0	0	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37																																																																																				C|0.994;T|0.006		0.632	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	15778712	15778712	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:15778712G>C	ENST00000399451.2	-	5	657	c.290C>G	c.(289-291)tCt>tGt	p.S97C	RN7SL4P_ENST00000584058.1_RNA|ANKRD28_ENST00000383777.1_Missense_Mutation_p.S130C|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	97						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACATCTGCAGAATGCTTCAA	0.348																																					p.S97C		.											.	ANKRD28-135	0			c.C290G						.						77.0	69.0	71.0					3																	15778712		1838	4086	5924	SO:0001583	missense	23243	exon5			TCTGCAGAATGCT	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.290C>G	3.37:g.15778712G>C	ENSP00000382379:p.Ser97Cys	68	0		46	24	NM_015199	0	0	0	3	3	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832226	0.91036	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65732	-0.17;-0.17;-0.17	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	N	0.21508	0.67	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.70935	0.951;0.879;0.971	T	0.74016	-0.3800	10	0.87932	D	0	.	19.1023	0.93279	0.0:0.0:1.0:0.0	.	130;127;97	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	C	97;130;97	ENSP00000382379:S97C;ENSP00000373287:S130C;ENSP00000397341:S97C	ENSP00000373287:S130C	S	-	2	0	ANKRD28	15753716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.513000	0.84729	0.650000	0.86243	TCT	.		0.348	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
GOLGA4	2803	hgsc.bcm.edu	37	3	37336491	37336491	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:37336491G>T	ENST00000361924.2	+	6	978	c.604G>T	c.(604-606)Gca>Tca	p.A202S	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.A224S|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	202	Interaction with MACF1.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGACCAGCAGGCAAAGAAACA	0.318																																					p.A224S		.											.	GOLGA4-93	0			c.G670T						.						93.0	101.0	98.0					3																	37336491		2203	4300	6503	SO:0001583	missense	2803	exon7			CAGCAGGCAAAGA	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.604G>T	3.37:g.37336491G>T	ENSP00000354486:p.Ala202Ser	123	0		81	6	NM_001172713	0	0	0	0	0	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257830	0.95368	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.76	4.76	0.60689	.	0.000000	0.34853	N	0.003634	T	0.57036	0.2026	M	0.76328	2.33	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.993	T	0.60525	-0.7246	10	0.52906	T	0.07	.	18.126	0.89586	0.0:0.0:1.0:0.0	.	202;224;202	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	S	202;224;207;73	ENSP00000354486:A202S;ENSP00000349305:A224S;ENSP00000387633:A207S;ENSP00000405842:A73S	ENSP00000349305:A224S	A	+	1	0	GOLGA4	37311495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.761000	0.98940	2.366000	0.80165	0.460000	0.39030	GCA	.		0.318	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
HHATL	57467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	42739085	42739085	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:42739085G>T	ENST00000441594.1	-	7	1041	c.780C>A	c.(778-780)gcC>gcA	p.A260A	HHATL_ENST00000310417.5_Silent_p.A260A	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	260					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGATGTCGACGGCCATGATGG	0.617																																					p.A260A		.											.	HHATL-93	0			c.C780A						.						125.0	117.0	119.0					3																	42739085		2203	4300	6503	SO:0001819	synonymous_variant	57467	exon7			GTCGACGGCCATG	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.780C>A	3.37:g.42739085G>T		214	0		230	122	NM_020707	0	0	0	0	0	Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	CCDS2704.1																																																																																			.		0.617	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49692898	49692898	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:49692898G>T	ENST00000296452.4	+	5	6023	c.5909G>T	c.(5908-5910)aGg>aTg	p.R1970M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1970					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGGAGCAGAGGCCCTACCCA	0.652																																					p.R1970M		.											.	BSN-97	0			c.G5909T						.						43.0	41.0	42.0					3																	49692898		2203	4300	6503	SO:0001583	missense	8927	exon5			AGCAGAGGCCCTA	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5909G>T	3.37:g.49692898G>T	ENSP00000296452:p.Arg1970Met	30	0		18	10	NM_003458	0	0	0	0	0	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154709	0.38021	.	.	ENSG00000164061	ENST00000296452	T	0.20332	2.08	5.1	4.1	0.47936	.	0.048470	0.85682	D	0.000000	T	0.19685	0.0473	N	0.22421	0.69	0.41440	D	0.987916	D	0.56521	0.976	P	0.53185	0.72	T	0.01130	-1.1442	10	0.62326	D	0.03	-17.4796	5.9671	0.19330	0.2884:0.0:0.7116:0.0	.	1970	Q9UPA5	BSN_HUMAN	M	1970	ENSP00000296452:R1970M	ENSP00000296452:R1970M	R	+	2	0	BSN	49667902	.	.	1.000000	0.80357	0.968000	0.65278	.	.	2.380000	0.81148	0.561000	0.74099	AGG	.		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
RBM15B	29890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	51430916	51430916	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:51430916A>T	ENST00000323686.4	+	1	2186	c.2086A>T	c.(2086-2088)Aag>Tag	p.K696*		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	696					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCGAGCCCAAGCCTCTGGA	0.567																																					p.K696X		.											.	RBM15B-90	0			c.A2086T						.						91.0	93.0	93.0					3																	51430916		2203	4300	6503	SO:0001587	stop_gained	29890	exon1			GAGCCCAAGCCTC	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2086A>T	3.37:g.51430916A>T	ENSP00000313890:p.Lys696*	222	0		206	123	NM_013286	0	0	5	46	41	A4QPG7|Q6QE19|Q9BV96	Nonsense_Mutation	SNP	ENST00000323686.4	37	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	A	35	5.479312	0.96307	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	.	.	.	5.54	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-23.8602	8.5193	0.33266	0.8511:0.0:0.1489:0.0	.	.	.	.	X	696;17;369;115	.	ENSP00000313890:K696X	K	+	1	0	RBM15B	51405956	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.377000	0.73145	0.931000	0.37242	0.533000	0.62120	AAG	.		0.567	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
DNAH1	25981	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52430932	52430932	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:52430932G>T	ENST00000420323.2	+	73	11920	c.11659G>T	c.(11659-11661)Gat>Tat	p.D3887Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3952	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGTGTCACTGATGACTGGGA	0.617																																					p.D3887Y		.											.	DNAH1-67	0			c.G11659T						.						49.0	53.0	52.0					3																	52430932		1984	4165	6149	SO:0001583	missense	25981	exon73			GTCACTGATGACT	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11659G>T	3.37:g.52430932G>T	ENSP00000401514:p.Asp3887Tyr	150	1		114	68	NM_015512	0	0	1	2	1	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224206	0.79576	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.15017	2.46	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.62011	0.2393	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.79227	-0.1890	10	0.87932	D	0	.	18.778	0.91920	0.0:0.0:1.0:0.0	.	3887;3952	C9JXH6;Q9P2D7-2	.;.	Y	3887;640	ENSP00000401514:D3887Y	ENSP00000273600:D640Y	D	+	1	0	DNAH1	52405972	1.000000	0.71417	0.071000	0.20095	0.810000	0.45777	9.578000	0.98200	2.433000	0.82419	0.655000	0.94253	GAT	.		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
ARHGEF3	50650	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	56992915	56992915	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:56992915G>C	ENST00000338458.4	-	3	174	c.65C>G	c.(64-66)cCt>cGt	p.P22R	ARHGEF3-AS1_ENST00000477246.1_RNA	NM_001128615.1	NP_001122087.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	0					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTGCCGTTTAGGCCTAGAAGA	0.443																																					p.P22R		.											.	ARHGEF3-228	0			c.C65G						.						225.0	192.0	202.0					3																	56992915		692	1591	2283	SO:0001583	missense	50650	exon3			CGTTTAGGCCTAG	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000338458.4:c.65C>G	3.37:g.56992915G>C	ENSP00000341071:p.Pro22Arg	125	0		130	78	NM_001128615	0	0	0	0	0	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000338458.4	37	CCDS46854.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900928	0.52227	.	.	ENSG00000163947	ENST00000338458;ENST00000473779;ENST00000468466	T	0.23754	1.89	5.69	3.9	0.45041	.	0.944369	0.08738	N	0.901020	T	0.27134	0.0665	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.53912	0.737	T	0.10428	-1.0630	10	0.07030	T	0.85	.	8.4899	0.33093	0.1766:0.0:0.8233:0.0	.	22	Q9NR81-2	.	R	22;8;22	ENSP00000341071:P22R	ENSP00000341071:P22R	P	-	2	0	ARHGEF3	56967955	0.999000	0.42202	0.976000	0.42696	0.971000	0.66376	2.754000	0.47532	0.759000	0.33084	0.585000	0.79938	CCT	.		0.443	ARHGEF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352432.2	NM_019555	
PSMD6	9861	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	64008128	64008128	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:64008128T>A	ENST00000295901.4	-	2	357	c.217A>T	c.(217-219)Atg>Ttg	p.M73L	PSMD6_ENST00000492933.1_Missense_Mutation_p.M126L|PSMD6_ENST00000482510.1_Missense_Mutation_p.M34L|PSMD6_ENST00000394431.2_Missense_Mutation_p.M35L|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	73					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)|ATP catabolic process (GO:0006200)|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)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|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)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCCTTCTTCATTTTATTGAGT	0.453																																					p.M126L		.											.	PSMD6-91	0			c.A376T						.						183.0	175.0	178.0					3																	64008128		2203	4300	6503	SO:0001583	missense	9861	exon3			TCTTCATTTTATT	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.217A>T	3.37:g.64008128T>A	ENSP00000295901:p.Met73Leu	171	2		149	81	NM_001271779	0	0	8	30	22	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283589	0.59867	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	.	.	.	5.19	5.19	0.71726	.	0.035400	0.85682	D	0.000000	T	0.52869	0.1761	L	0.42529	1.33	0.80722	D	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.001	B;B;B;B	0.23574	0.01;0.019;0.047;0.009	T	0.48703	-0.9012	9	0.07813	T	0.8	.	15.2232	0.73330	0.0:0.0:0.0:1.0	.	35;34;126;73	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	L	73;126;35;34;87;94	.	ENSP00000295901:M73L	M	-	1	0	PSMD6	63983168	1.000000	0.71417	0.925000	0.36789	0.994000	0.84299	7.775000	0.85489	2.184000	0.69523	0.533000	0.62120	ATG	.		0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	77666782	77666782	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:77666782G>T	ENST00000461745.1	+	22	4312	c.3412G>T	c.(3412-3414)Gct>Tct	p.A1138S	ROBO2_ENST00000487694.3_Missense_Mutation_p.A1154S|ROBO2_ENST00000332191.8_Missense_Mutation_p.A1138S|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1138					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)		TCGAGGCGTGGCTTCTTCTCC	0.522																																					p.A1138S		.											.	ROBO2-328	0			c.G3412T						.						108.0	104.0	105.0					3																	77666782		2051	4196	6247	SO:0001583	missense	6092	exon22			GGCGTGGCTTCTT	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.3412G>T	3.37:g.77666782G>T	ENSP00000417164:p.Ala1138Ser	148	0		164	93	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.61|18.61	3.661096|3.661096	0.67700|0.67700	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000490991	T;T;T|.	0.67865|.	-0.29;-0.25;-0.14|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.45606|.	D|.	0.000349|.	T|T	0.71048|0.71048	0.3294|0.3294	L|L	0.50333|0.50333	1.59|1.59	0.28041|.	N|.	0.933764|.	D;B;B|.	0.63880|.	0.993;0.169;0.085|.	D;B;B|.	0.72625|.	0.978;0.046;0.01|.	T|T	0.66732|0.66732	-0.5849|-0.5849	9|4	0.44086|.	T|.	0.13|.	.|.	19.5819|19.5819	0.95471|0.95471	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1154;1138;1138|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	S|C	1154;1154;1138;1138|294	ENSP00000417335:A1154S;ENSP00000417164:A1138S;ENSP00000327536:A1138S|.	ENSP00000327536:A1138S|.	A|W	+|+	1|3	0|0	ROBO2|ROBO2	77749472|77749472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	6.409000|6.409000	0.73289|0.73289	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GCT|TGG	.		0.522	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
SEMA5B	54437	hgsc.bcm.edu	37	3	122631896	122631896	+	Missense_Mutation	SNP	A	A	T	rs2276782	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:122631896A>T	ENST00000357599.3	-	18	2905	c.2519T>A	c.(2518-2520)gTc>gAc	p.V840D	SEMA5B_ENST00000451055.2_Missense_Mutation_p.V894D|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V839D	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	840			V -> D (in dbSNP:rs2276782). {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCGCAGGAGGACCTCCACCAG	0.791													T|||	3010	0.601038	0.5348	0.621	5008	,	,		11243	0.3522		0.8082	False		,,,				2504	0.7198				p.V894D		.											.	SEMA5B-157	0			c.T2681A						.	T	ASP/VAL	2573,1477		827,919,279	4.0	5.0	5.0		2519	5.0	1.0	3	dbSNP_100	5	6625,1195		2828,969,113	no	missense	SEMA5B	NM_001031702.2	152	3655,1888,392	TT,TA,AA		15.2813,36.4691,22.5105	benign	840/1152	122631896	9198,2672	2025	3910	5935	SO:0001583	missense	54437	exon18			AGGAGGACCTCCA	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2519T>A	3.37:g.122631896A>T	ENSP00000350215:p.Val840Asp	0	0		9	9	NM_001256347	0	0	0	0	0	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	1286	0.5888278388278388	247	0.5020325203252033	243	0.6712707182320442	193	0.3374125874125874	603	0.7955145118733509	T	5.344	0.248763	0.10130	0.635309	0.847187	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.34072	1.43;1.38;1.48;1.5	5.01	5.01	0.66863	.	0.161766	0.52532	N	0.000069	T	0.00012	0.0000	N	0.00246	-1.78	0.30182	P	0.8002819999999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39354	-0.9618	9	0.02654	T	1	.	10.6514	0.45651	0.1435:0.0:0.0:0.8565	rs2276782	782;840	D3YTI7;Q9P283	.;SEM5B_HUMAN	D	840;839;782;894;840	ENSP00000350215:V840D;ENSP00000195173:V839D;ENSP00000389588:V894D;ENSP00000377208:V840D	ENSP00000195173:V839D	V	-	2	0	SEMA5B	124114586	1.000000	0.71417	0.990000	0.47175	0.785000	0.44390	4.886000	0.63149	0.945000	0.37605	-0.257000	0.10917	GTC	T|0.412;A|0.588		0.791	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
P2RY14	9934	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	150931660	150931660	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:150931660T>C	ENST00000309170.3	-	3	757	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.M149V|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	149					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAGGAGCATGAGCATCCAT	0.388																																					p.M149V		.											.	P2RY14-563	0			c.A445G						.						123.0	113.0	116.0					3																	150931660		2203	4300	6503	SO:0001583	missense	9934	exon3			GGAGCATGAGCAT	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.445A>G	3.37:g.150931660T>C	ENSP00000308361:p.Met149Val	88	0		168	13	NM_014879	0	0	0	0	0	Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	T	6.595	0.478097	0.12521	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.35605	1.3;1.3	5.9	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.340768	0.31347	N	0.007810	T	0.22820	0.0551	L	0.36672	1.1	0.09310	N	1	B	0.25169	0.119	B	0.33799	0.17	T	0.36065	-0.9763	10	0.02654	T	1	-26.8079	4.1317	0.10152	0.1154:0.0652:0.2398:0.5795	.	149	Q15391	P2Y14_HUMAN	V	149	ENSP00000308361:M149V;ENSP00000408733:M149V	ENSP00000308361:M149V	M	-	1	0	P2RY14	152414350	0.000000	0.05858	0.378000	0.26068	0.168000	0.22595	-0.021000	0.12504	0.480000	0.27534	0.528000	0.53228	ATG	.		0.388	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879	
MUC4	4585	bcgsc.ca	37	3	195511911	195511911	+	Silent	SNP	G	G	A	rs200732241		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:195511911G>A	ENST00000463781.3	-	2	6999	c.6540C>T	c.(6538-6540)acC>acT	p.T2180T	MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2180T(2)		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)		AGGAAGTGTCGGTGACAGGAA	0.587																																					p.T2180T		.											.	MUC4-90	2	Substitution - coding silent(2)	endometrium(2)	c.C6540T						.						8.0	14.0	12.0					3																	195511911		633	1518	2151	SO:0001819	synonymous_variant	4585	exon2			AGTGTCGGTGACA	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.6540C>T	3.37:g.195511911G>A		586	27		1336	85	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																			G|0.998;A|0.002		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TNK2	10188	hgsc.bcm.edu	37	3	195594805	195594805	+	Silent	SNP	A	A	G	rs1056749	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:195594805A>G	ENST00000333602.6	-	12	2936	c.2319T>C	c.(2317-2319)gcT>gcC	p.A773A	TNK2_ENST00000428187.1_Silent_p.A805A|TNK2_ENST00000381916.2_Silent_p.A851A|TNK2_ENST00000392400.1_Silent_p.A773A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	773	EBD domain. {ECO:0000250}.|Pro-rich.			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)	GGGGAGGGGAAGCAGGTCCAG	0.746													a|||	593	0.118411	0.1505	0.0865	5008	,	,		11184	0.0327		0.175	False		,,,				2504	0.1278				p.A851A		.											.	TNK2-957	0			c.T2553C						.		,	451,3449		26,399,1525	5.0	7.0	6.0		2553,2319	-1.4	0.8	3	dbSNP_86	6	1067,6843		74,919,2962	no	coding-synonymous,coding-synonymous	TNK2	NM_001010938.1,NM_005781.4	,	100,1318,4487	GG,GA,AA		13.4893,11.5641,12.8535	,	851/1087,773/1039	195594805	1518,10292	1950	3955	5905	SO:0001819	synonymous_variant	10188	exon13			AGGGGAAGCAGGT	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.2319T>C	3.37:g.195594805A>G		1	0		5	4	NM_001010938	0	0	1	6	5	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																			A|0.886;G|0.114		0.746	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388974	1388974	+	Silent	SNP	T	T	C	rs71614969	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177.0	128.0	145.0					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		1	0		12	9	NM_175918	0	0	3	5	2	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					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)		p.L104_W106delLLW(1)		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)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																					p.104_106del		.											.	OTOP1-92	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	c.310_318del						.																																			SO:0001651	inframe_deletion	133060	exon1			CAGCATCCACAGC	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.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del	6	0		48	21	NM_177998	0	0	0	0	0	A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OTOP1	133060	hgsc.bcm.edu	37	4	4228456	4228456	+	Silent	SNP	G	G	T	rs73191872		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					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)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4.0	4.0	4.0					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	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.136C>A	4.37:g.4228456G>T		2	0		44	22	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
GPR78	27201	hgsc.bcm.edu	37	4	8583231	8583231	+	Silent	SNP	C	C	A	rs61741008	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:8583231C>A	ENST00000382487.4	+	1	939	c.522C>A	c.(520-522)gcC>gcA	p.A174A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	174					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCACCGCCACGCTCCATG	0.697													C|||	24	0.00479233	0.0	0.0043	5008	,	,		16694	0.0		0.0189	False		,,,				2504	0.002				p.A174A		.											.	GPR78-516	0			c.C522A						.	C		8,4196		0,8,2094	10.0	11.0	10.0		522	-1.0	0.0	4	dbSNP_129	10	97,8169		0,97,4036	no	coding-synonymous	GPR78	NM_080819.2		0,105,6130	AA,AC,CC		1.1735,0.1903,0.842		174/364	8583231	105,12365	2102	4133	6235	SO:0001819	synonymous_variant	27201	exon1			CACCGCCACGCTC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.522C>A	4.37:g.8583231C>A		1	0		17	6	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			C|0.992;A|0.008		0.697	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
FAM200B	285550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	15689683	15689683	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:15689683G>A	ENST00000422728.2	+	2	1921	c.1083G>A	c.(1081-1083)ttG>ttA	p.L361L	FAM200B_ENST00000504137.1_Intron	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	361							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						gaagctcattgaatagccggc	0.353																																					p.L361L		.											.	.	0			c.G1083A						.						45.0	39.0	41.0					4																	15689683		692	1591	2283	SO:0001819	synonymous_variant	285550	exon2			CTCATTGAATAGC	BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.1083G>A	4.37:g.15689683G>A		105	0		47	23	NM_001145191	0	0	0	0	0		Silent	SNP	ENST00000422728.2	37	CCDS47028.1																																																																																			.		0.353	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360100.1	NM_001145191	
KCNIP4	80333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	20884247	20884247	+	Silent	SNP	C	C	A	rs374165010	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:20884247C>A	ENST00000382152.2	-	2	314	c.147G>T	c.(145-147)tcG>tcT	p.S49S	KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	49						dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TAGCAGGAGACGACGTTTTGG	0.448																																					p.S29S		.											.	KCNIP4-91	0			c.G87T						.						84.0	83.0	83.0					4																	20884247		1963	4177	6140	SO:0001819	synonymous_variant	80333	exon1			AGGAGACGACGTT	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.147G>T	4.37:g.20884247C>A		50	0		34	18	NM_025221	0	0	0	0	0	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	CCDS43216.1																																																																																			.		0.448	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221	
GABRA2	2555	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	46252425	46252425	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:46252425C>G	ENST00000510861.1	-	10	1429	c.1256G>C	c.(1255-1257)aGa>aCa	p.R419T	GABRA2_ENST00000356504.1_Missense_Mutation_p.R419T|GABRA2_ENST00000540012.1_Missense_Mutation_p.R424T|GABRA2_ENST00000381620.4_Missense_Mutation_p.R419T|GABRA2_ENST00000507069.1_Missense_Mutation_p.R479T|GABRA2_ENST00000514090.1_Missense_Mutation_p.R419T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	419					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTGGACATTCTGTCAATTTT	0.398																																					p.R419T		.											.	GABRA2-94	0			c.G1256C						.						174.0	176.0	175.0					4																	46252425		2203	4299	6502	SO:0001583	missense	2555	exon10			GACATTCTGTCAA		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1256G>C	4.37:g.46252425C>G	ENSP00000421828:p.Arg419Thr	80	0		58	31	NM_000807	0	0	0	0	0	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669367	0.67814	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	N	0.21194	0.64	0.54753	D	0.999985	D;P	0.59357	0.985;0.863	P;P	0.53401	0.725;0.601	T	0.82882	-0.0237	10	0.11182	T	0.66	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	424;419	B7Z1H8;P47869	.;GBRA2_HUMAN	T	419;419;419;419;424;479	ENSP00000421828:R419T;ENSP00000421300:R419T;ENSP00000371033:R419T;ENSP00000348897:R419T;ENSP00000444409:R424T;ENSP00000427603:R479T	ENSP00000348897:R419T	R	-	2	0	GABRA2	45947182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.827000	0.97445	0.655000	0.94253	AGA	.		0.398	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
CORIN	10699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	47765548	47765548	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:47765548C>G	ENST00000273857.4	-	4	464	c.465G>C	c.(463-465)acG>acC	p.T155T	CORIN_ENST00000508498.1_Silent_p.T16T|CORIN_ENST00000504584.1_Silent_p.T155T|CORIN_ENST00000502252.1_Silent_p.T88T|CORIN_ENST00000505909.1_Silent_p.T155T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	155	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGGTGTCAGCGTGGCGTGGT	0.468																																					p.T155T		.											.	CORIN-91	0			c.G465C						.						146.0	138.0	141.0					4																	47765548		2203	4300	6503	SO:0001819	synonymous_variant	10699	exon4			TGTCAGCGTGGCG	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.465G>C	4.37:g.47765548C>G		142	0		156	85	NM_006587	0	0	0	0	0	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	CCDS3477.1																																																																																			.		0.468	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
TMPRSS11B	132724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69094576	69094576	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:69094576C>A	ENST00000332644.5	-	9	1134	c.973G>T	c.(973-975)Gac>Tac	p.D325Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	325	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> A (in dbSNP:rs2319796). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTCAAAAAGTCTTCTTGAAGT	0.353																																					p.D325Y		.											.	TMPRSS11B-91	0			c.G973T						.						107.0	97.0	100.0					4																	69094576		2203	4300	6503	SO:0001583	missense	132724	exon9			AAAAGTCTTCTTG	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.973G>T	4.37:g.69094576C>A	ENSP00000330475:p.Asp325Tyr	149	0		140	76	NM_182502	0	0	0	0	0	A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093892	0.36952	.	.	ENSG00000185873	ENST00000332644	D	0.92647	-3.08	4.62	4.62	0.57501	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42548	D	0.000684	D	0.82903	0.5138	N	0.04508	-0.205	0.23519	N	0.997509	B	0.10296	0.003	B	0.08055	0.003	T	0.75698	-0.3227	10	0.87932	D	0	.	15.3496	0.74373	0.0:1.0:0.0:0.0	.	325	Q86T26	TM11B_HUMAN	Y	325	ENSP00000330475:D325Y	ENSP00000330475:D325Y	D	-	1	0	TMPRSS11B	68777171	1.000000	0.71417	0.432000	0.26747	0.568000	0.35870	5.929000	0.70096	2.584000	0.87258	0.655000	0.94253	GAC	.		0.353	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
UGT2A3	79799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69817028	69817028	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:69817028C>A	ENST00000251566.4	-	1	481	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	151					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGGAATCACAGGGTCTATA	0.433																																					p.V151L		.											.	UGT2A3-92	0			c.G451T						.						73.0	73.0	73.0					4																	69817028		2203	4300	6503	SO:0001583	missense	79799	exon1			GAATCACAGGGTC		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.451G>T	4.37:g.69817028C>A	ENSP00000251566:p.Val151Leu	234	0		146	72	NM_024743	0	0	0	0	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745177	0.15710	.	.	ENSG00000135220	ENST00000251566	T	0.63580	-0.05	4.74	-0.26	0.12967	.	0.854162	0.10100	N	0.716105	T	0.41858	0.1177	L	0.31752	0.955	0.09310	N	0.999993	B	0.17465	0.022	B	0.23419	0.046	T	0.26950	-1.0088	10	0.25751	T	0.34	.	0.4973	0.00573	0.2808:0.3274:0.1372:0.2546	.	151	Q6UWM9	UD2A3_HUMAN	L	151	ENSP00000251566:V151L	ENSP00000251566:V151L	V	-	1	0	UGT2A3	69851617	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.395000	0.02516	-0.030000	0.13804	-0.218000	0.12543	GTG	.		0.433	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
DSPP	1834	bcgsc.ca	37	4	88536233	88536238	+	In_Frame_Del	DEL	AGTGAT	AGTGAT	-	rs555978267	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	AGTGAT	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:88536233_88536238delAGTGAT	ENST00000282478.7	+	4	2452_2457	c.2419_2424delAGTGAT	c.(2419-2424)agtgatdel	p.SD807del	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_In_Frame_Del_p.SD807del			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	807	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cagcaacagcagtgatagcagtgata	0.49																																					p.807_808del		.											.	DSPP-90	0			c.2419_2424del						.																																			SO:0001651	inframe_deletion	1834	exon5			AACAGCAGTGATA	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2419_2424delAGTGAT	4.37:g.88536233_88536238delAGTGAT	ENSP00000282478:p.Ser807_Asp808del	968	8		987	27	NM_014208	0	0	0	0	0	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.490	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
CCSER1	401145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	91389426	91389426	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:91389426G>T	ENST00000509176.1	+	5	1933	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	CCSER1_ENST00000432775.2_Missense_Mutation_p.A549S|CCSER1_ENST00000333691.8_Missense_Mutation_p.A549S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	549								p.A549P(2)|p.A551P(1)									CTCATGTGCCGCAGTAGTTCT	0.373																																					p.A549S		.											.	.	3	Substitution - Missense(3)	lung(3)	c.G1645T						.						79.0	76.0	77.0					4																	91389426		1846	4096	5942	SO:0001583	missense	401145	exon5			TGTGCCGCAGTAG		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.1645G>T	4.37:g.91389426G>T	ENSP00000425040:p.Ala549Ser	153	0		100	60	NM_001145065	0	0	0	0	0	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191302	0.38707	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.45668	1.44;0.89;1.44	4.63	4.63	0.57726	.	0.188140	0.46145	D	0.000301	T	0.49983	0.1589	L	0.40543	1.245	0.30771	N	0.743037	D;D	0.69078	0.986;0.997	P;P	0.62813	0.865;0.907	T	0.44190	-0.9344	10	0.17832	T	0.49	-10.411	15.2528	0.73561	0.0:0.0:1.0:0.0	.	549;549	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	S	549	ENSP00000425040:A549S;ENSP00000389283:A549S;ENSP00000329482:A549S	ENSP00000329482:A549S	A	+	1	0	FAM190A	91608449	1.000000	0.71417	0.504000	0.27639	0.257000	0.26127	5.103000	0.64578	2.514000	0.84764	0.467000	0.42956	GCA	.		0.373	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
PDHA2	5161	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	96762414	96762414	+	Silent	SNP	A	A	G	rs150761581	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:96762414A>G	ENST00000295266.4	+	1	1176	c.1113A>G	c.(1111-1113)tcA>tcG	p.S371S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	371					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GCAGTGATTCATCTTTTGAAG	0.428																																					p.S371S		.											.	PDHA2-90	0			c.A1113G						.						119.0	108.0	112.0					4																	96762414		2203	4300	6503	SO:0001819	synonymous_variant	5161	exon1			TGATTCATCTTTT		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1113A>G	4.37:g.96762414A>G		172	0		184	125	NM_005390	0	0	0	0	0	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																			A|0.998;C|0.002		0.428	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
CENPE	1062	bcgsc.ca	37	4	104082349	104082349	+	Silent	SNP	C	C	T	rs2251634	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:104082349C>T	ENST00000265148.3	-	20	2114	c.2025G>A	c.(2023-2025)caG>caA	p.Q675Q	CENPE_ENST00000380026.3_Silent_p.Q650Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	675					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGCCTCCAACTGGCTTTGAT	0.328													T|||	2254	0.45008	0.674	0.353	5008	,	,		15920	0.3006		0.4076	False		,,,				2504	0.4141				p.Q675Q		.											.	CENPE-277	0			c.G2025A						.	T		2584,1820	528.4+/-372.4	753,1078,371	137.0	130.0	132.0		2025	-1.7	0.8	4	dbSNP_100	132	3376,5220	637.2+/-399.2	685,2006,1607	no	coding-synonymous	CENPE	NM_001813.2		1438,3084,1978	TT,TC,CC		39.2741,41.3261,45.8462		675/2702	104082349	5960,7040	2202	4298	6500	SO:0001819	synonymous_variant	1062	exon20			CTCCAACTGGCTT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2025G>A	4.37:g.104082349C>T		69	0		43	4	NM_001813	0	0	0	0	0	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																			T|0.334;G|0.148		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	110448529	110448529	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:110448529T>C	ENST00000265175.5	+	18	3072	c.3017T>C	c.(3016-3018)cTa>cCa	p.L1006P	SEC24B_ENST00000504968.2_Missense_Mutation_p.L1036P|SEC24B_ENST00000399100.2_Missense_Mutation_p.L971P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1006					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	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)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GTAAGTTCACTAGCAGATGTA	0.368																																					p.L1006P		.											.	SEC24B-137	0			c.T3017C						.						147.0	135.0	138.0					4																	110448529		1867	4112	5979	SO:0001583	missense	10427	exon18			GTTCACTAGCAGA	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3017T>C	4.37:g.110448529T>C	ENSP00000265175:p.Leu1006Pro	98	0		69	41	NM_006323	0	0	0	11	11	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070703	0.55539	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.29397	1.57;1.57;1.57	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	M	0.75777	2.31	0.80722	D	1	P;P;P;P;D	0.52996	0.483;0.934;0.792;0.868;0.957	B;P;B;B;P	0.45138	0.1;0.453;0.214;0.294;0.471	T	0.49283	-0.8956	10	0.87932	D	0	-16.743	16.1741	0.81840	0.0:0.0:0.0:1.0	.	920;605;1036;971;1006	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	P	1036;971;1006	ENSP00000428564:L1036P;ENSP00000382051:L971P;ENSP00000265175:L1006P	ENSP00000265175:L1006P	L	+	2	0	SEC24B	110667978	0.995000	0.38212	0.103000	0.21229	0.363000	0.29612	8.040000	0.89188	2.285000	0.76669	0.533000	0.62120	CTA	.		0.368	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	111542464	111542464	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:111542464C>G	ENST00000354925.2	-	6	1951	c.246G>C	c.(244-246)aaG>aaC	p.K82N	PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Missense_Mutation_p.K89N|PITX2_ENST00000557119.2_Missense_Mutation_p.K89N|PITX2_ENST00000355080.5_Missense_Mutation_p.K36N|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000394598.2_Missense_Mutation_p.K82N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	82					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGCCGCTTCTTCTTAGACG	0.582																																					p.K89N		.											.	PITX2-650	0			c.G267C						.						74.0	74.0	74.0					4																	111542464		2203	4300	6503	SO:0001583	missense	5308	exon2			CCGCTTCTTCTTA	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.246G>C	4.37:g.111542464C>G	ENSP00000347004:p.Lys82Asn	62	0		50	23	NM_000325	0	0	0	1	1	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336664	0.60963	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.37	5.37	0.77165	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	L	0.49350	1.555	0.80722	D	1	P;B;D;P	0.76494	0.942;0.447;0.999;0.562	P;B;D;B	0.70227	0.764;0.16;0.968;0.236	D	0.95654	0.8709	10	0.42905	T	0.14	.	14.687	0.69057	0.0:0.9281:0.0:0.0719	.	82;36;82;89	D6RFI4;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	N	89;82;36;82;82;36	ENSP00000304169:K89N;ENSP00000378097:K82N;ENSP00000347192:K36N;ENSP00000347004:K82N;ENSP00000421454:K82N;ENSP00000424142:K36N	ENSP00000304169:K89N	K	-	3	2	PITX2	111761913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.236000	0.51336	2.676000	0.91093	0.655000	0.94253	AAG	.		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
ANK2	287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	114163347	114163347	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:114163347G>T	ENST00000357077.4	+	9	926	c.873G>T	c.(871-873)caG>caT	p.Q291H	ANK2_ENST00000506722.1_Missense_Mutation_p.Q270H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q291H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q291H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	291					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)		GAGGCGGTCAGATCGATGCCA	0.433																																					p.Q291H		.											.	ANK2-583	0			c.G873T						.						194.0	175.0	181.0					4																	114163347		2203	4300	6503	SO:0001583	missense	287	exon9			CGGTCAGATCGAT	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.873G>T	4.37:g.114163347G>T	ENSP00000349588:p.Gln291His	166	0		142	73	NM_001148	0	0	0	0	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717781	0.68844	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;-0.12;-0.12;-0.12;-0.57;-0.12;-0.12	5.48	3.74	0.42951	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000132	T	0.76535	0.4001	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;0.995	D;D;D;D;D	0.91635	0.999;0.935;0.998;0.999;0.995	T	0.76113	-0.3078	10	0.66056	D	0.02	.	9.678	0.40052	0.2144:0.0:0.7856:0.0	.	291;291;291;270;270	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	270;270;270;306;291;291;291;270	ENSP00000423799:Q270H;ENSP00000421011:Q270H;ENSP00000421067:Q270H;ENSP00000424722:Q306H;ENSP00000378044:Q291H;ENSP00000349588:Q291H;ENSP00000264366:Q291H	ENSP00000264366:Q291H	Q	+	3	2	ANK2	114382796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.071000	0.57556	0.788000	0.33755	0.655000	0.94253	CAG	.		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
KIAA1109	84162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	123268929	123268929	+	Missense_Mutation	SNP	G	G	A	rs377061438		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:123268929G>A	ENST00000264501.4	+	76	13497	c.13124G>A	c.(13123-13125)cGa>cAa	p.R4375Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4375Q			Q2LD37	K1109_HUMAN	KIAA1109	4375					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)		p.R4375Q(1)		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						TCAGTTCCTCGAAGAGGTAAC	0.413																																					p.R4375Q		.											.	KIAA1109-80	1	Substitution - Missense(1)	lung(1)	c.G13124A						.	G	GLN/ARG	1,3841		0,1,1920	118.0	110.0	112.0		13124	1.9	1.0	4		112	0,8268		0,0,4134	no	missense	KIAA1109	NM_015312.3	43	0,1,6054	AA,AG,GG		0.0,0.026,0.0083	benign	4375/5006	123268929	1,12109	1921	4134	6055	SO:0001583	missense	84162	exon74			TTCCTCGAAGAGG	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.13124G>A	4.37:g.123268929G>A	ENSP00000264501:p.Arg4375Gln	119	0		165	103	NM_015312	0	0	0	0	0	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.264540|2.264540	0.39995|0.39995	2.6E-4|2.6E-4	0.0|0.0	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30714	.|2.46;2.46;1.52	6.01|6.01	1.91|1.91	0.25777|0.25777	.|.	.|0.196873	.|0.42294	.|N	.|0.000727	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.06409|0.06409	-1.0828|-1.0828	5|10	.|0.25751	.|T	.|0.34	.|.	10.053|10.053	0.42228|0.42228	0.3883:0.0:0.6117:0.0|0.3883:0.0:0.6117:0.0	.|.	.|4374;4375	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	K|Q	751|4375;4375;1044	.|ENSP00000264501:R4375Q;ENSP00000373390:R4375Q;ENSP00000410874:R1044Q	.|ENSP00000264501:R4375Q	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123488379|123488379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	3.134000|3.134000	0.50538|0.50538	0.449000|0.449000	0.26747|0.26747	-0.157000|-0.157000	0.13467|0.13467	GAA|CGA	.		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	126238731	126238731	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:126238731G>T	ENST00000394329.3	+	1	1178	c.1165G>T	c.(1165-1167)Gcg>Tcg	p.A389S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	389	Cadherin 4. {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						AGATTCTCCCGCGGCCAACGG	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A389S		.											.	FAT4-108	0			c.G1165T						.						28.0	32.0	30.0					4																	126238731		2030	4174	6204	SO:0001583	missense	79633	exon1			TCTCCCGCGGCCA	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.1165G>T	4.37:g.126238731G>T	ENSP00000377862:p.Ala389Ser	223	0	1548	275	157	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	6.041	0.375971	0.11409	.	.	ENSG00000196159	ENST00000394329	T	0.37235	1.21	4.69	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004253	T	0.29783	0.0744	N	0.05259	-0.085	0.80722	D	1	P	0.47962	0.903	P	0.53006	0.715	T	0.25293	-1.0136	10	0.59425	D	0.04	.	13.491	0.61395	0.0:0.0:0.7172:0.2828	.	389	Q6V0I7	FAT4_HUMAN	S	389	ENSP00000377862:A389S	ENSP00000377862:A389S	A	+	1	0	FAT4	126458181	0.994000	0.37717	0.747000	0.31113	0.062000	0.15995	2.595000	0.46197	0.557000	0.29117	-1.028000	0.02416	GCG	.		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FSTL5	56884	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	162954783	162954783	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:162954783C>A	ENST00000306100.5	-	3	590	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	RP11-497K21.1_ENST00000513093.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.V51F|FSTL5_ENST00000427802.2_Missense_Mutation_p.V51F|FSTL5_ENST00000379164.4_Missense_Mutation_p.V51F	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)		TTACCTTTGACTCTTGAACTT	0.259																																					p.V52F		.											.	FSTL5-158	0			c.G154T						.						31.0	31.0	31.0					4																	162954783		2161	4244	6405	SO:0001583	missense	56884	exon3			CTTTGACTCTTGA	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.154G>T	4.37:g.162954783C>A	ENSP00000305334:p.Val52Phe	44	0		16	9	NM_020116	0	0	0	0	0	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683936	0.29872	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.72835	-0.69;-0.66;-0.69;-0.66	4.99	2.28	0.28536	.	0.746340	0.12064	N	0.502832	T	0.43567	0.1253	N	0.03608	-0.345	0.25324	N	0.9891	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32375	-0.9909	10	0.54805	T	0.06	.	4.3344	0.11080	0.1738:0.097:0.0:0.7292	.	51;51;52	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	F	52;51;51;51	ENSP00000305334:V52F;ENSP00000368462:V51F;ENSP00000389270:V51F;ENSP00000440409:V51F	ENSP00000305334:V52F	V	-	1	0	FSTL5	163174233	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.433000	0.21477	0.296000	0.22592	-0.290000	0.09829	GTC	.		0.259	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
ACSL1	2180	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	185687098	185687098	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr4:185687098C>A	ENST00000515030.1	-	14	1631	c.1306G>T	c.(1306-1308)Gcc>Tcc	p.A436S	ACSL1_ENST00000281455.2_Missense_Mutation_p.A436S|ACSL1_ENST00000504342.1_Missense_Mutation_p.A436S|ACSL1_ENST00000437665.3_Missense_Mutation_p.A265S|ACSL1_ENST00000454703.2_Missense_Mutation_p.A265S|ACSL1_ENST00000513317.1_Missense_Mutation_p.A436S|ACSL1_ENST00000507295.1_Missense_Mutation_p.A402S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	436					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACACCGGGGCGGCTCCTGTC	0.632																																					p.A436S		.											.	ACSL1-92	0			c.G1306T						.						67.0	67.0	67.0					4																	185687098		2203	4300	6503	SO:0001583	missense	2180	exon14			CCGGGGCGGCTCC	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1306G>T	4.37:g.185687098C>A	ENSP00000422607:p.Ala436Ser	158	1		155	89	NM_001995	0	0	0	0	0	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313587	0.60414	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.23	5.23	0.72850	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.64830	0.994;0.993;0.993;0.991	D;D;D;D	0.72075	0.964;0.976;0.976;0.971	T	0.48536	-0.9027	10	0.52906	T	0.07	-22.8981	19.1736	0.93590	0.0:1.0:0.0:0.0	.	402;436;436;436	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	S	265;436;42;436;402;265;436;436	ENSP00000407165:A265S;ENSP00000422607:A436S;ENSP00000425098:A42S;ENSP00000281455:A436S;ENSP00000426244:A402S;ENSP00000405687:A265S;ENSP00000425006:A436S;ENSP00000426150:A436S	ENSP00000281455:A436S	A	-	1	0	ACSL1	185924092	1.000000	0.71417	0.124000	0.21820	0.033000	0.12548	5.912000	0.69948	2.591000	0.87537	0.655000	0.94253	GCC	.		0.632	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	7802377	7802377	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:7802377C>T	ENST00000338316.4	+	21	2764	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	ADCY2_ENST00000537121.1_Missense_Mutation_p.S712F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	892					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						ATGTTTGCCTCCATTCCGGAT	0.468																																					p.S892F		.											.	ADCY2-97	0			c.C2675T						.						84.0	81.0	82.0					5																	7802377		2203	4300	6503	SO:0001583	missense	108	exon21			TTGCCTCCATTCC	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.2675C>T	5.37:g.7802377C>T	ENSP00000342952:p.Ser892Phe	97	0		126	42	NM_020546	0	0	0	0	0	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964060	0.92791	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.31510	1.49;1.49	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82317	-0.0517	10	0.87932	D	0	.	18.8415	0.92186	0.0:1.0:0.0:0.0	.	712;892	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	892;45;725;712	ENSP00000342952:S892F;ENSP00000444803:S712F	ENSP00000342952:S892F	S	+	2	0	ADCY2	7855377	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.539000	0.82063	2.447000	0.82792	0.591000	0.81541	TCC	.		0.468	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
C5orf49	134121	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	7832052	7832052	+	Missense_Mutation	SNP	G	G	A	rs202097565		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:7832052G>A	ENST00000399810.2	-	3	823	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	C5orf49_ENST00000509627.1_Missense_Mutation_p.R117C	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	119										large_intestine(3)|lung(5)|skin(1)	9						TGGTTGGCACGGCCAAAGTCC	0.567																																					p.R119C		.											.	C5orf49-22	0			c.C355T						.	G	CYS/ARG	0,4000		0,0,2000	142.0	147.0	145.0		355	3.7	0.1	5		145	1,8327		0,1,4163	yes	missense	C5orf49	NM_001089584.1	180	0,1,6163	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	119/148	7832052	1,12327	2000	4164	6164	SO:0001583	missense	134121	exon3			TGGCACGGCCAAA		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.355C>T	5.37:g.7832052G>A	ENSP00000382708:p.Arg119Cys	98	1		157	51	NM_001089584	0	0	0	0	0		Missense_Mutation	SNP	ENST00000399810.2	37	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490738	0.26686	0.0	1.2E-4	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.46819	0.86;0.86	4.72	3.7	0.42460	.	.	.	.	.	T	0.60779	0.2295	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	P	0.60886	0.88	T	0.50759	-0.8790	9	0.87932	D	0	-1.7071	11.2542	0.49043	0.0:0.0:0.7713:0.2287	.	119	A4QMS7	CE049_HUMAN	C	119;117	ENSP00000382708:R119C;ENSP00000426019:R117C	ENSP00000382708:R119C	R	-	1	0	C5orf49	7885052	0.057000	0.20700	0.117000	0.21633	0.002000	0.02628	2.210000	0.42816	2.339000	0.79563	0.555000	0.69702	CGT	.		0.567	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584	
PRDM9	56979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	23527817	23527817	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:23527817A>T	ENST00000296682.3	+	11	2802	c.2620A>T	c.(2620-2622)Agc>Tgc	p.S874C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	874					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGATAGGTCAAGCCTCTGCTA	0.527										HNSCC(3;0.000094)																											p.S874C		.											.	PRDM9-139	0			c.A2620T						.						67.0	76.0	73.0					5																	23527817		2186	4294	6480	SO:0001583	missense	56979	exon11			AGGTCAAGCCTCT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2620A>T	5.37:g.23527817A>T	ENSP00000296682:p.Ser874Cys	194	0		284	115	NM_020227	0	0	0	0	0	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.795270	0.31777	.	.	ENSG00000164256	ENST00000296682	T	0.16073	2.37	2.05	-4.09	0.03951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24236	0.0587	L	0.42632	1.34	0.09310	N	1	D	0.58268	0.982	D	0.65140	0.932	T	0.22452	-1.0216	9	0.59425	D	0.04	.	5.2962	0.15754	0.4444:0.2856:0.2699:0.0	.	874	Q9NQV7	PRDM9_HUMAN	C	874	ENSP00000296682:S874C	ENSP00000296682:S874C	S	+	1	0	PRDM9	23563574	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.126000	0.00024	-2.800000	0.00352	-1.887000	0.00540	AGC	.		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
OSMR	9180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	38869147	38869147	+	Start_Codon_SNP	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:38869147A>G	ENST00000274276.3	+	2	403	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	OSMR_ENST00000502536.1_Start_Codon_SNP_p.M1V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	1					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACCAGAACTGATGGCTCTATT	0.353																																					p.M1V		.											.	OSMR-496	0			c.A1G						.						87.0	91.0	89.0					5																	38869147		2203	4300	6503	SO:0001582	initiator_codon_variant	9180	exon2			GAACTGATGGCTC	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1A>G	5.37:g.38869147A>G	ENSP00000274276:p.Met1Val	104	0		98	25	NM_001168355	0	0	0	0	0	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	A	8.894	0.954791	0.18431	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.57907	0.37;0.81	4.84	4.84	0.62591	.	2.237490	0.01877	N	0.037601	T	0.74831	0.3768	.	.	.	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.76071	0.971;0.987	T	0.57353	-0.7826	9	0.87932	D	0	.	10.992	0.47555	1.0:0.0:0.0:0.0	.	1;1	Q99650;Q99650-2	OSMR_HUMAN;.	V	1	ENSP00000422023:M1V;ENSP00000274276:M1V	ENSP00000274276:M1V	M	+	1	0	OSMR	38904904	0.993000	0.37304	0.921000	0.36526	0.011000	0.07611	4.139000	0.58024	2.156000	0.67533	0.533000	0.62120	ATG	.		0.353	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	Missense_Mutation
FYB	2533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	39118988	39118988	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:39118988C>T	ENST00000351578.6	-	15	2441	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	FYB_ENST00000540520.1_Missense_Mutation_p.E807K|FYB_ENST00000512982.1_Missense_Mutation_p.E797K|FYB_ENST00000515010.1_Missense_Mutation_p.E751K|FYB_ENST00000505428.1_Missense_Mutation_p.E797K	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	751					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCCCTTCTTCATTTCTGCAG	0.353																																					p.E807K		.											.	FYB-24	0			c.G2419A						.						180.0	163.0	169.0					5																	39118988		1827	4071	5898	SO:0001583	missense	2533	exon16			CTTCTTCATTTCT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.2251G>A	5.37:g.39118988C>T	ENSP00000316460:p.Glu751Lys	80	0		88	15	NM_001243093	0	0	0	0	0	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755038	0.49362	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	6.04	6.04	0.98038	Src homology-3 domain (1);	0.474875	0.25112	N	0.033045	T	0.26484	0.0647	L	0.58302	1.8	0.39616	D	0.969957	P;B	0.52316	0.952;0.349	B;B	0.41510	0.359;0.068	T	0.04065	-1.0980	10	0.21014	T	0.42	-6.0654	13.7479	0.62887	0.0:0.9302:0.0:0.0698	.	807;751	B4DLN2;O15117	.;FYB_HUMAN	K	751;751;797;797;807	ENSP00000316460:E751K;ENSP00000426346:E751K;ENSP00000425845:E797K;ENSP00000427114:E797K;ENSP00000442840:E807K	ENSP00000316460:E751K	E	-	1	0	FYB	39154745	0.977000	0.34250	0.996000	0.52242	0.989000	0.77384	2.508000	0.45450	2.873000	0.98535	0.563000	0.77884	GAA	.		0.353	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
ENC1	8507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	73930600	73930600	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:73930600C>A	ENST00000302351.4	-	2	2841	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	ENC1_ENST00000537006.1_Missense_Mutation_p.V571F|ENC1_ENST00000510316.1_Missense_Mutation_p.V498F|ENC1_ENST00000509284.1_5'Flank	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	571				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAGTACGGGACAGTGGTGATG	0.453																																					p.V571F		.											.	ENC1-228	0			c.G1711T						.						108.0	82.0	91.0					5																	73930600		2203	4300	6503	SO:0001583	missense	8507	exon2			ACGGGACAGTGGT	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1711G>T	5.37:g.73930600C>A	ENSP00000306356:p.Val571Phe	312	0		413	134	NM_003633	0	0	6	7	1	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372126	0.61624	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66815	-0.23;-0.23;-0.23	5.75	5.75	0.90469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	L	0.37561	1.115	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.77427	-0.2592	10	0.72032	D	0.01	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	571	O14682	ENC1_HUMAN	F	571;498;571	ENSP00000306356:V571F;ENSP00000423804:V498F;ENSP00000446289:V571F	ENSP00000306356:V571F	V	-	1	0	ENC1	73966356	1.000000	0.71417	0.956000	0.39512	0.786000	0.44442	4.977000	0.63792	2.714000	0.92807	0.561000	0.74099	GTC	.		0.453	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633	
COL4A3BP	10087	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	74681788	74681788	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:74681788G>T	ENST00000405807.4	-	13	1777	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G	COL4A3BP_ENST00000261415.7_Silent_p.G426G|COL4A3BP_ENST00000508692.1_5'Flank|COL4A3BP_ENST00000380494.5_Silent_p.G580G	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	452	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTCCTGTGACGCCTTTAACTG	0.338																																					p.G580G		.											.	COL4A3BP-226	0			c.C1740A						.						68.0	62.0	64.0					5																	74681788		2202	4298	6500	SO:0001819	synonymous_variant	10087	exon14			TGTGACGCCTTTA	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1356C>A	5.37:g.74681788G>T		60	0		73	24	NM_001130105	0	0	0	0	0	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	CCDS4028.1																																																																																			.		0.338	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	
FAM81B	153643	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	94764306	94764306	+	Splice_Site	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:94764306G>C	ENST00000283357.5	+	6	702		c.e6-1			NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B							nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTGCCATTAGATGTGATTCA	0.403																																					.		.											.	FAM81B-92	0			c.657-1G>C						.						121.0	114.0	116.0					5																	94764306		1864	4095	5959	SO:0001630	splice_region_variant	153643	exon6			CCATTAGATGTGA		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.657-1G>C	5.37:g.94764306G>C		161	2		199	85	NM_152548	0	0	0	0	0		Splice_Site	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681919	0.68042	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9772	0.92742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM81B	94790062	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.789000	0.69029	2.780000	0.95670	0.655000	0.94253	.	.		0.403	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	Intron
SLCO4C1	353189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	rs374536178		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																					p.R611W		.											.	SLCO4C1-93	0			c.C1831T						.	G	TRP/ARG	0,4406		0,0,2203	131.0	140.0	137.0		1831	6.0	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189	exon11			GGGACCGTTGTCT	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp	206	1		179	66	NM_180991	0	0	0	0	0		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG	.		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
IL3	3562	bcgsc.ca	37	5	131396478	131396478	+	Missense_Mutation	SNP	C	C	T	rs40401	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:131396478C>T	ENST00000296870.2	+	1	257	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	27			P -> S (in dbSNP:rs40401). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2544122, ECO:0000269|Ref.4}.		cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCAGACAACGCCCTTGAAGAC	0.537													T|||	2101	0.419529	0.5703	0.3156	5008	,	,		21475	0.5714		0.2515	False		,,,				2504	0.3057				p.P27S		.											.	IL3-92	0			c.C79T						.	T	SER/PRO	2268,2138	578.4+/-384.7	588,1092,523	100.0	97.0	98.0		79	1.2	0.0	5	dbSNP_76	98	1951,6649	725.2+/-406.5	226,1499,2575	yes	missense	IL3	NM_000588.3	74	814,2591,3098	TT,TC,CC		22.686,48.5247,32.4389	benign	27/153	131396478	4219,8787	2203	4300	6503	SO:0001583	missense	3562	exon1			ACAACGCCCTTGA	M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.79C>T	5.37:g.131396478C>T	ENSP00000296870:p.Pro27Ser	134	0		251	9	NM_000588	0	0	0	0	0	Q6GS87	Missense_Mutation	SNP	ENST00000296870.2	37	CCDS4149.1	911	0.41712454212454214	291	0.5914634146341463	100	0.27624309392265195	319	0.5576923076923077	201	0.26517150395778366	T	0.343	-0.949559	0.02304	0.514753	0.22686	ENSG00000164399	ENST00000296870	T	0.26373	1.74	3.24	1.18	0.20946	.	1.255760	0.05782	N	0.608778	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.18968	0.032	B	0.20577	0.03	T	0.43766	-0.9371	9	0.07644	T	0.81	-2.5392	6.6006	0.22699	0.0:0.6449:0.2355:0.1196	rs40401;rs657709;rs3181636;rs52803049;rs59548569;rs40401	27	P08700	IL3_HUMAN	S	27	ENSP00000296870:P27S	ENSP00000296870:P27S	P	+	1	0	IL3	131424377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.640000	0.00108	0.009000	0.14813	-0.834000	0.03071	CCC	C|0.616;N|0.000		0.537	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132639.1	NM_000588	
PCDHB13	56123	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140595249	140595249	+	Silent	SNP	T	T	G	rs144959109	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:140595249T>G	ENST00000341948.4	+	1	1741	c.1554T>G	c.(1552-1554)tcT>tcG	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692													T|||	6	0.00119808	0.003	0.0014	5008	,	,		16445	0.001		0.0	False		,,,				2504	0.0				p.S518S		.											.	PCDHB13-93	1	Substitution - coding silent(1)	kidney(1)	c.T1554G						.	T		9,4397		0,9,2194	89.0	96.0	93.0		1554	-6.8	0.0	5	dbSNP_134	93	8,8592		0,8,4292	no	coding-synonymous	PCDHB13	NM_018933.2		0,17,6486	GG,GT,TT		0.093,0.2043,0.1307		518/799	140595249	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	56123	exon1			CAGGTCTCTGGAC	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1554T>G	5.37:g.140595249T>G		172	2		548	214	NM_018933	0	0	0	2	2	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			T|0.999;G|0.001		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGA3	56112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140723866	140723866	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:140723866G>T	ENST00000253812.6	+	1	266	c.266G>T	c.(265-267)aGg>aTg	p.R89M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	89	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(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGAGAGGATAGACCGG	0.527																																					p.R89M		.											.	PCDHGA3-68	0			c.G266T						.						45.0	53.0	50.0					5																	140723866		2159	4287	6446	SO:0001583	missense	56112	exon1			CGGAGAGGATAGA	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.266G>T	5.37:g.140723866G>T	ENSP00000253812:p.Arg89Met	122	0		116	42	NM_032011	0	0	0	0	0	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	15.75	2.925668	0.52759	.	.	ENSG00000254245	ENST00000253812	T	0.35789	1.29	5.65	2.89	0.33648	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36409	U	0.002611	T	0.70842	0.3270	H	0.97983	4.12	0.26468	N	0.97533	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.98	T	0.67879	-0.5556	10	0.87932	D	0	.	10.8076	0.46527	0.2087:0.0:0.7913:0.0	.	89;89	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	M	89	ENSP00000253812:R89M	ENSP00000253812:R89M	R	+	2	0	PCDHGA3	140704050	0.999000	0.42202	0.941000	0.38009	0.745000	0.42441	3.318000	0.51975	0.860000	0.35481	-0.150000	0.13652	AGG	.		0.527	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
FAT2	2196	ucsc.edu;bcgsc.ca;mdanderson.org	37	5	150946780	150946780	+	Silent	SNP	C	C	A	rs35225143	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:150946780C>A	ENST00000261800.5	-	1	1725	c.1713G>T	c.(1711-1713)ggG>ggT	p.G571G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	571	Cadherin 5. {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)			GGCGGATAGACCCTGTACAGT	0.463													C|||	105	0.0209665	0.0023	0.049	5008	,	,		20087	0.0		0.0606	False		,,,				2504	0.0072				p.G571G		.											.	FAT2-96	0			c.G1713T						.	C		85,4321	70.3+/-108.2	3,79,2121	73.0	78.0	76.0		1713	0.1	0.1	5	dbSNP_126	76	674,7926	167.5+/-219.3	32,610,3658	no	coding-synonymous	FAT2	NM_001447.2		35,689,5779	AA,AC,CC		7.8372,1.9292,5.8358		571/4350	150946780	759,12247	2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			GATAGACCCTGTA	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.1713G>T	5.37:g.150946780C>A		142	0		178	55	NM_001447	0	0	0	0	0	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			C|0.948;A|0.052		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GLRA1	2741	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	151231112	151231112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:151231112delA	ENST00000455880.2	-	7	1037	c.751delT	c.(751-753)tacfs	p.Y251fs	GLRA1_ENST00000274576.4_Frame_Shift_Del_p.Y251fs|GLRA1_ENST00000545569.1_Frame_Shift_Del_p.Y168fs|GLRA1_ENST00000471351.2_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	251					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAATCAGGTAGTAACCCATC	0.517																																					p.Y251fs		.											.	GLRA1-91	0			c.751delT						.						129.0	119.0	122.0					5																	151231112		2203	4300	6503	SO:0001589	frameshift_variant	2741	exon7			TCAGGTAGTAACC		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.751delT	5.37:g.151231112delA	ENSP00000411593:p.Tyr251fs	224	0		313	130	NM_000171	0	0	0	0	0	B2R6T3|Q14C77|Q6DJV9	Frame_Shift_Del	DEL	ENST00000455880.2	37	CCDS54942.1																																																																																			.		0.517	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
HAVCR1	26762	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	156482398	156482398	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:156482398T>C	ENST00000339252.3	-	2	725	c.193A>G	c.(193-195)Aat>Gat	p.N65D	HAVCR1_ENST00000522693.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000544197.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000523175.1_Missense_Mutation_p.N65D|HAVCR1_ENST00000425854.1_Missense_Mutation_p.N65D	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGGTTCCATTGGTCCAGACA	0.478																																					p.N65D		.											.	HAVCR1-92	0			c.A193G						.						94.0	84.0	87.0					5																	156482398		2001	4190	6191	SO:0001583	missense	26762	exon3			TTCCATTGGTCCA	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.193A>G	5.37:g.156482398T>C	ENSP00000344844:p.Asn65Asp	171	1		235	95	NM_001099414	0	0	0	0	0	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	T	2.976	-0.211468	0.06140	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.58	-3.24	0.05094	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.399659	0.26065	N	0.026560	T	0.17746	0.0426	N	0.14661	0.345	0.21355	N	0.999716	B;B	0.17465	0.022;0.022	B;B	0.20384	0.029;0.029	T	0.29150	-1.0021	10	0.09843	T	0.71	-18.5919	7.2736	0.26271	0.0:0.3845:0.1122:0.5033	.	65;65	F1CME6;Q96D42	.;HAVR1_HUMAN	D	65	ENSP00000428524:N65D;ENSP00000427898:N65D;ENSP00000344844:N65D;ENSP00000403333:N65D;ENSP00000440258:N65D;ENSP00000428422:N65D	ENSP00000344844:N65D	N	-	1	0	HAVCR1	156414976	0.003000	0.15002	0.000000	0.03702	0.036000	0.12997	-0.112000	0.10791	-1.164000	0.02790	-0.248000	0.11899	AAT	.		0.478	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
CDHR2	54825	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176016115	176016115	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:176016115C>A	ENST00000510636.1	+	22	3214	c.2940C>A	c.(2938-2940)acC>acA	p.T980T	CDHR2_ENST00000261944.5_Silent_p.T980T|CDHR2_ENST00000506348.1_Silent_p.T980T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	980	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGGGGCCACCATCCCTTTCC	0.592																																					p.T980T		.											.	CDHR2-70	0			c.C2940A						.						223.0	215.0	218.0					5																	176016115		2203	4300	6503	SO:0001819	synonymous_variant	54825	exon22			GGCCACCATCCCT	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2940C>A	5.37:g.176016115C>A		163	0		191	62	NM_017675	0	0	0	2	2	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	CCDS34297.1																																																																																			.		0.592	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
HK3	3101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176314086	176314086	+	Missense_Mutation	SNP	G	G	T	rs534008020	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:176314086G>T	ENST00000292432.5	-	13	1865	c.1774C>A	c.(1774-1776)Cag>Aag	p.Q592K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	592	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCTGCTGGAAGTCCACG	0.602																																					p.Q592K		.											.	HK3-294	0			c.C1774A						.						84.0	76.0	79.0					5																	176314086		2203	4300	6503	SO:0001583	missense	3101	exon13			TCTGCTGGAAGTC		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1774C>A	5.37:g.176314086G>T	ENSP00000292432:p.Gln592Lys	144	0		266	98	NM_002115	0	0	2	2	0	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508996	0.85282	.	.	ENSG00000160883	ENST00000292432	D	0.98207	-4.79	5.01	5.01	0.66863	Hexokinase, N-terminal (1);	0.000000	0.51477	D	0.000096	D	0.97390	0.9146	N	0.24115	0.695	0.37950	D	0.932619	D	0.63046	0.992	D	0.63793	0.918	D	0.99421	1.0933	10	0.87932	D	0	-16.4269	13.2907	0.60269	0.0:0.0:0.8415:0.1585	.	592	P52790	HXK3_HUMAN	K	592	ENSP00000292432:Q592K	ENSP00000292432:Q592K	Q	-	1	0	HK3	176246692	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.028000	0.57246	2.325000	0.78763	0.561000	0.74099	CAG	.		0.602	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
GRM6	2916	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	178413936	178413936	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:178413936C>A	ENST00000517717.1	-	8	1441	c.1403G>T	c.(1402-1404)gGg>gTg	p.G468V	GRM6_ENST00000231188.5_Missense_Mutation_p.G468V|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	468					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GTCGTACCGCCCGGGCGCATC	0.637																																					p.G468V		.											.	GRM6-588	0			c.G1403T						.						78.0	64.0	68.0					5																	178413936		2203	4300	6503	SO:0001583	missense	2916	exon7			TACCGCCCGGGCG	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1403G>T	5.37:g.178413936C>A	ENSP00000430767:p.Gly468Val	90	1		168	67	NM_000843	0	0	0	0	0		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556148	0.65425	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83075	-1.68;-1.68	4.74	4.74	0.60224	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.93367	0.7885	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.91635	0.999;0.734	D	0.95123	0.8248	9	0.87932	D	0	.	15.5896	0.76517	0.0:1.0:0.0:0.0	.	596;468	E7EX65;O15303	.;GRM6_HUMAN	V	596;468;468	ENSP00000231188:G468V;ENSP00000430767:G468V	ENSP00000231188:G468V	G	-	2	0	GRM6	178346542	1.000000	0.71417	0.733000	0.30861	0.423000	0.31445	7.652000	0.83633	2.339000	0.79563	0.462000	0.41574	GGG	.		0.637	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ALDH5A1	7915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	24523089	24523089	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:24523089T>C	ENST00000357578.3	+	7	1254	c.1109T>C	c.(1108-1110)gTa>gCa	p.V370A	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.V383A|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.V282A|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.V342A	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	370					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AACCTGCGCGTAGGTAATGGA	0.408																																					p.V383A		.											.	ALDH5A1-90	0			c.T1148C						.						127.0	128.0	128.0					6																	24523089		2203	4300	6503	SO:0001583	missense	7915	exon8			TGCGCGTAGGTAA	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1109T>C	6.37:g.24523089T>C	ENSP00000350191:p.Val370Ala	99	0		111	35	NM_170740	0	0	3	6	3	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551663	0.65311	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.2	5.2	0.72013	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.210963	0.43260	D	0.000584	D	0.83303	0.5225	M	0.72118	2.19	0.54753	D	0.99998	P;P	0.45902	0.868;0.84	P;P	0.54026	0.74;0.622	D	0.85786	0.1364	10	0.72032	D	0.01	-7.0977	15.526	0.75905	0.0:0.0:0.0:1.0	.	370;383	P51649;G5E949	SSDH_HUMAN;.	A	370;282;342;383	ENSP00000350191:V370A;ENSP00000438193:V282A;ENSP00000417687:V342A;ENSP00000314649:V383A	ENSP00000314649:V383A	V	+	2	0	ALDH5A1	24631068	0.999000	0.42202	0.344000	0.25628	0.391000	0.30476	5.868000	0.69605	2.308000	0.77769	0.533000	0.62120	GTA	.		0.408	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		
HIST1H2BA	255626	bcgsc.ca	37	6	25727448	25727448	+	Silent	SNP	G	G	A	rs16890972	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:25727448G>A	ENST00000274764.2	+	1	312	c.312G>A	c.(310-312)ctG>ctA	p.L104L	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	104					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						GCTTGCTACTGCCGGGAGAGC	0.517													G|||	149	0.0297524	0.0953	0.0259	5008	,	,		18131	0.0		0.005	False		,,,				2504	0.0				p.L104L		.											.	HIST1H2BA-204	0			c.G312A						.	G		389,4017	195.0+/-219.7	21,347,1835	273.0	198.0	223.0		312	-1.6	0.0	6	dbSNP_123	223	68,8532	41.7+/-99.0	1,66,4233	no	coding-synonymous	HIST1H2BA	NM_170610.2		22,413,6068	AA,AG,GG		0.7907,8.8289,3.5138		104/128	25727448	457,12549	2203	4300	6503	SO:0001819	synonymous_variant	255626	exon1			GCTACTGCCGGGA	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.312G>A	6.37:g.25727448G>A		95	0		152	6	NM_170610	0	0	0	0	0	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Silent	SNP	ENST00000274764.2	37	CCDS4563.1																																																																																			G|0.965;A|0.035		0.517	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
HIST1H3A	8350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26020915	26020915	+	Silent	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:26020915A>G	ENST00000357647.3	+	1	198	c.198A>G	c.(196-198)ctA>ctG	p.L66L	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	66					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCGTAAACTACCTTTCCAGC	0.607																																					p.L66L		.											.	HIST1H3A-92	0			c.A198G						.						46.0	51.0	49.0					6																	26020915		2203	4300	6503	SO:0001819	synonymous_variant	8350	exon1			TAAACTACCTTTC	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.198A>G	6.37:g.26020915A>G		75	0		148	56	NM_003529	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000357647.3	37	CCDS4570.1																																																																																			.		0.607	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529	
HIST1H3F	8968	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	26250440	26250440	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:26250440G>C	ENST00000446824.2	-	1	395	c.394C>G	c.(394-396)Cgc>Ggc	p.R132G	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	132					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						CTCTCTCCGCGAATGCGGCGA	0.542											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R132G		.											.	HIST1H3F-68	0			c.C394G						.						78.0	76.0	77.0					6																	26250440		2203	4300	6503	SO:0001583	missense	8968	exon1			CTCCGCGAATGCG	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.394C>G	6.37:g.26250440G>C	ENSP00000444823:p.Arg132Gly	152	1	785	216	82	NM_021018	0	0	0	0	0	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	18.10	3.549140	0.65311	.	.	ENSG00000256316	ENST00000446824	T	0.70045	-0.45	4.82	4.82	0.62117	.	.	.	.	.	T	0.76090	0.3939	.	.	.	0.45777	D	0.998663	.	.	.	.	.	.	T	0.79291	-0.1864	6	0.87932	D	0	.	17.7536	0.88442	0.0:0.0:1.0:0.0	.	.	.	.	G	132	ENSP00000444823:R132G	ENSP00000444823:R132G	R	-	1	0	HIST1H3F	26358419	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.828000	0.86729	2.602000	0.87976	0.561000	0.74099	CGC	.		0.542	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018	
HIST1H2BN	8341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	27806779	27806779	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:27806779G>A	ENST00000396980.3	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.E114K|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						CGCGGTGTCGGAGGGCACCAA	0.647																																					p.E114K		.											.	HIST1H2BN-68	0			c.G340A						.						49.0	52.0	51.0					6																	27806779		2203	4299	6502	SO:0001583	missense	8341	exon1			GTGTCGGAGGGCA	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.340G>A	6.37:g.27806779G>A	ENSP00000380177:p.Glu114Lys	84	0		211	74	NM_003520	0	0	0	5	5	B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.491310	0.44249	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.48201	0.82;0.82	4.71	3.83	0.44106	Histone-fold (2);	0.000000	0.43919	U	0.000520	T	0.33381	0.0861	M	0.78801	2.425	0.29106	N	0.881189	B;B	0.24675	0.001;0.109	B;B	0.22753	0.003;0.041	T	0.31052	-0.9957	10	0.52906	T	0.07	.	12.1725	0.54167	0.0854:0.0:0.9146:0.0	.	114;114	Q99877;B2R4S9	H2B1N_HUMAN;.	K	114	ENSP00000446031:E114K;ENSP00000380177:E114K	ENSP00000380177:E114K	E	+	1	0	HIST1H2BN	27914758	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.496000	0.73670	2.537000	0.85549	0.650000	0.86243	GAG	.		0.647	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520	
ZKSCAN3	80317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	28331530	28331530	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:28331530C>T	ENST00000377255.3	+	6	992	c.695C>T	c.(694-696)tCa>tTa	p.S232L	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.S84L|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.S232L	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	232	KRAB.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CAGCAGGATTCATCTCAGGGG	0.478																																					p.S232L		.											.	ZKSCAN3-92	0			c.C695T						.						85.0	79.0	81.0					6																	28331530		2203	4300	6503	SO:0001583	missense	80317	exon5			AGGATTCATCTCA	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.695C>T	6.37:g.28331530C>T	ENSP00000366465:p.Ser232Leu	149	0		190	63	NM_024493	0	0	0	1	1	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.114408	0.56505	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.01745	4.66;4.66;4.66	2.98	2.98	0.34508	Krueppel-associated box (3);	.	.	.	.	T	0.02083	0.0065	L	0.37630	1.12	0.22620	N	0.998926	D	0.89917	1.0	D	0.87578	0.998	T	0.55328	-0.8158	9	0.15952	T	0.53	.	13.8021	0.63206	0.0:1.0:0.0:0.0	.	232	Q9BRR0	ZKSC3_HUMAN	L	232;84;232	ENSP00000252211:S232L;ENSP00000341883:S84L;ENSP00000366465:S232L	ENSP00000252211:S232L	S	+	2	0	ZKSCAN3	28439509	0.000000	0.05858	0.885000	0.34714	0.970000	0.65996	0.612000	0.24283	1.950000	0.56595	0.563000	0.77884	TCA	.		0.478	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
HLA-F	3134	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	29692009	29692009	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:29692009C>T	ENST00000376861.1	+	4	778	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	HLA-F_ENST00000440587.2_Missense_Mutation_p.R14C|HLA-F_ENST00000434407.2_Missense_Mutation_p.R132C|HLA-F_ENST00000334668.4_Missense_Mutation_p.R132C|HLA-F_ENST00000259951.7_Missense_Mutation_p.R132C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	132	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACGCCTCCTCCGCGGGTATCA	0.677																																					p.R132C		.											.	HLA-F-22	0			c.C394T						.						77.0	81.0	80.0					6																	29692009		1509	2708	4217	SO:0001583	missense	3134	exon3			CTCCTCCGCGGGT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.394C>T	6.37:g.29692009C>T	ENSP00000366057:p.Arg132Cys	130	0		237	81	NM_001098478	0	0	285	420	135	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	16.48	3.134932	0.56828	.	.	ENSG00000204642	ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000440587;ENST00000434407	T;T;T;T;T	0.00014	9.22;9.22;9.22;9.22;9.22	1.63	0.441	0.16577	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.842331	0.09387	U	0.809113	T	0.00300	0.0009	H	0.99935	4.985	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.972;0.953;0.99	T	0.51293	-0.8724	10	0.87932	D	0	.	4.3356	0.11085	0.3897:0.6103:0.0:0.0	.	132;132;132;132	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	C	132;109;132;132;14;132	ENSP00000366057:R132C;ENSP00000334263:R132C;ENSP00000259951:R132C;ENSP00000404130:R14C;ENSP00000397376:R132C	ENSP00000259951:R132C	R	+	1	0	HLA-F	29799988	0.000000	0.05858	0.428000	0.26697	0.318000	0.28184	-0.869000	0.04232	0.871000	0.35750	0.436000	0.28706	CGC	.		0.677	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950	
PRRC2A	7916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31590581	31590581	+	Silent	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:31590581G>T	ENST00000376033.2	+	2	249	c.15G>T	c.(13-15)tcG>tcT	p.S5S	PRRC2A_ENST00000469577.1_Intron|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Silent_p.S5S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	5						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGATCGCTCGGGGCCGACTG	0.552																																					p.S5S		.											.	PRRC2A-156	0			c.G15T						.						197.0	203.0	201.0					6																	31590581		2203	4300	6503	SO:0001819	synonymous_variant	7916	exon2			TCGCTCGGGGCCG	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.15G>T	6.37:g.31590581G>T		84	0		132	48	NM_004638	0	0	1	2	1	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	CCDS4708.1																																																																																			.		0.552	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32017977	32017977	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:32017977G>A	ENST00000375244.3	-	27	9438	c.9237C>T	c.(9235-9237)tcC>tcT	p.S3079S	TNXB_ENST00000375247.2_Silent_p.S3077S			P22105	TENX_HUMAN	tenascin XB	3124	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACCATCCAGGACAGGCTGA	0.672																																					p.S3077S		.											.	TNXB-90	0			c.C9231T						.						83.0	91.0	88.0					6																	32017977		1248	2539	3787	SO:0001819	synonymous_variant	7148	exon27			CATCCAGGACAGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9237C>T	6.37:g.32017977G>A		219	0		309	103	NM_019105	0	0	0	0	0	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																				.		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
HLA-DQA1	3117	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	32610520	32610520	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:32610520C>A	ENST00000343139.5	+	4	849	c.747C>A	c.(745-747)tcC>tcA	p.S249S	HLA-DQA1_ENST00000374949.2_Silent_p.S249S|HLA-DQA1_ENST00000395363.1_Silent_p.S249S	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	248					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGGTGCTTCCAGACACCAAG	0.542																																					p.S249S		.											.	HLA-DQA1-90	0			c.C747A						.						131.0	105.0	114.0					6																	32610520		1509	2706	4215	SO:0001819	synonymous_variant	3117	exon4			TGCTTCCAGACAC		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.747C>A	6.37:g.32610520C>A		179	1		341	140	NM_002122	0	0	57	57	0	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	CCDS4752.1																																																																																			.		0.542	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
UHRF1BP1	54887	broad.mit.edu;bcgsc.ca	37	6	34838842	34838842	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:34838842G>A	ENST00000192788.5	+	18	4101	c.3930G>A	c.(3928-3930)ccG>ccA	p.P1310P	UHRF1BP1_ENST00000452449.2_Silent_p.P1310P	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1310							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAGATCCCGGTGGTAGTCC	0.502																																					p.P1310P		.											.	UHRF1BP1-93	0			c.G3930A						.						78.0	75.0	76.0					6																	34838842		1987	4154	6141	SO:0001819	synonymous_variant	54887	exon18			GATCCCGGTGGTA	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3930G>A	6.37:g.34838842G>A		83	1		107	45	NM_017754	0	0	1	1	0	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																			.		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
KCTD20	222658	bcgsc.ca	37	6	36446975	36446975	+	Missense_Mutation	SNP	G	G	C	rs2239808	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:36446975G>C	ENST00000373731.2	+	4	903	c.512G>C	c.(511-513)aGt>aCt	p.S171T	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.S26T	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	171	BTB.		S -> T (in dbSNP:rs2239808). {ECO:0000269|PubMed:14702039}.		protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GAAGGCATCAGTGCAACTGTA	0.453													G|||	1554	0.310304	0.4576	0.219	5008	,	,		21392	0.378		0.2227	False		,,,				2504	0.1963				p.S171T		.											.	KCTD20-92	0			c.G512C						.	G	THR/SER	1812,2594	531.1+/-373.1	365,1082,756	204.0	151.0	169.0		512	5.3	1.0	6	dbSNP_98	169	1655,6945	305.6+/-307.5	149,1357,2794	yes	missense	KCTD20	NM_173562.3	58	514,2439,3550	CC,CG,GG		19.2442,41.1257,26.6569	possibly-damaging	171/420	36446975	3467,9539	2203	4300	6503	SO:0001583	missense	222658	exon4			GCATCAGTGCAAC	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.512G>C	6.37:g.36446975G>C	ENSP00000362836:p.Ser171Thr	182	0		281	7	NM_173562	0	0	5	5	0	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	694	0.31776556776556775	241	0.4898373983739837	67	0.1850828729281768	222	0.3881118881118881	164	0.21635883905013192	G	32	5.117970	0.94385	0.411257	0.192442	ENSG00000112078	ENST00000373731;ENST00000536244	T;D	0.94723	0.83;-3.5	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.199717	0.47093	D	0.000257	D	0.97071	0.9043	M	0.83852	2.665	0.09310	P	1.0	D	0.71674	0.998	D	0.67103	0.949	D	0.96551	0.9408	9	0.52906	T	0.07	-21.5181	19.1338	0.93418	0.0:0.0:1.0:0.0	rs2239808;rs52792836;rs57808269;rs2239808	171	Q7Z5Y7	KCD20_HUMAN	T	171;26	ENSP00000362836:S171T;ENSP00000439118:S26T	ENSP00000362836:S171T	S	+	2	0	KCTD20	36554953	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.657000	0.98554	2.752000	0.94435	0.655000	0.94253	AGT	G|0.619;C|0.381		0.453	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
GUCA1B	2979	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42156332	42156332	+	Silent	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:42156332G>C	ENST00000230361.3	-	2	440	c.345C>G	c.(343-345)ctC>ctG	p.L115L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCACAATGTTGAGTAGCTCCA	0.567																																					p.L115L		.											.	GUCA1B-92	0			c.C345G						.						121.0	91.0	101.0					6																	42156332		2203	4300	6503	SO:0001819	synonymous_variant	2979	exon2			AATGTTGAGTAGC	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.345C>G	6.37:g.42156332G>C		79	1		117	43	NM_002098	0	0	0	0	0	Q9NU15	Silent	SNP	ENST00000230361.3	37	CCDS4865.1																																																																																			.		0.567	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		0	0		10	9	NM_000287	0	0	0	4	4	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
SLC25A27	9481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46623682	46623682	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:46623682G>A	ENST00000371347.5	+	2	461	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SLC25A27_ENST00000411689.2_Missense_Mutation_p.G70E|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	70					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CCCTATAGGGGAATGGTGCGC	0.498																																					p.G70E		.											.	SLC25A27-90	0			c.G209A						.						114.0	117.0	116.0					6																	46623682		1897	4114	6011	SO:0001583	missense	9481	exon2			ATAGGGGAATGGT	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.209G>A	6.37:g.46623682G>A	ENSP00000360398:p.Gly70Glu	100	0		156	72	NM_001204051	0	0	0	0	0	F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751965	0.89753	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	D;D	0.81499	-1.5;-1.5	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.94449	0.7665	10	0.87932	D	0	-8.9794	16.9173	0.86154	0.0:0.0:1.0:0.0	.	70;70	O95847;F5GWR4	UCP4_HUMAN;.	E	70	ENSP00000360398:G70E;ENSP00000412024:G70E	ENSP00000360398:G70E	G	+	2	0	SLC25A27	46731641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	2.564000	0.86499	0.650000	0.86243	GGA	.		0.498	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277	
CRISP1	167	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	49806196	49806196	+	Silent	SNP	G	G	A	rs35289289	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:49806196G>A	ENST00000335847.4	-	7	677	c.576C>T	c.(574-576)ggC>ggT	p.G192G	CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Silent_p.G192G|CRISP1_ENST00000505118.1_Silent_p.G192G|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000507853.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	192					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CACATGGGACGCCTGTCTTAT	0.363													G|||	191	0.038139	0.1339	0.0144	5008	,	,		17019	0.0		0.004	False		,,,				2504	0.0				p.G192G		.											.	CRISP1-90	0			c.C576T						.	G	,,	565,3841	254.6+/-260.1	26,513,1664	179.0	170.0	173.0		576,576,	-3.7	0.0	6	dbSNP_126	173	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,intron	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	,,	26,521,5956	AA,AG,GG		0.093,12.8234,4.4057	,,	192/250,192/250,	49806196	573,12433	2203	4300	6503	SO:0001819	synonymous_variant	167	exon7			TGGGACGCCTGTC	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.576C>T	6.37:g.49806196G>A		43	0		58	24	NM_001205220	0	0	0	0	0	B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	CCDS4931.1																																																																																			G|0.960;A|0.040		0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131	
PKHD1	5314	bcgsc.ca	37	6	51512887	51512887	+	Silent	SNP	A	A	G	rs17667728	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:51512887A>G	ENST00000371117.3	-	63	11615	c.11340T>C	c.(11338-11340)ccT>ccC	p.P3780P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3780					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)					ATGGCTCTGAAGGAGGTCCCA	0.413													A|||	156	0.0311502	0.0522	0.0317	5008	,	,		17729	0.0		0.0408	False		,,,				2504	0.0245				p.P3780P		.											.	PKHD1-603	0			c.T11340C						.	A		192,4214	118.8+/-156.5	2,188,2013	114.0	116.0	115.0		11340	-4.3	0.1	6	dbSNP_123	115	361,8239	119.4+/-178.7	10,341,3949	no	coding-synonymous	PKHD1	NM_138694.3		12,529,5962	GG,GA,AA		4.1977,4.3577,4.2519		3780/4075	51512887	553,12453	2203	4300	6503	SO:0001819	synonymous_variant	5314	exon63			CTCTGAAGGAGGT	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.11340T>C	6.37:g.51512887A>G		59	0		97	4	NM_138694	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			A|0.960;G|0.040		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51920477	51920477	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:51920477A>G	ENST00000371117.3	-	19	2019	c.1744T>C	c.(1744-1746)Ttc>Ctc	p.F582L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F582L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	582					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)					CTGCCACAGAAGGGCTCCGTC	0.527																																					p.F582L		.											.	PKHD1-603	0			c.T1744C						.						60.0	59.0	59.0					6																	51920477		2203	4300	6503	SO:0001583	missense	5314	exon19			CACAGAAGGGCTC	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.1744T>C	6.37:g.51920477A>G	ENSP00000360158:p.Phe582Leu	63	0		139	49	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497051	0.85069	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86769	-2.17;-2.17	5.53	5.53	0.82687	.	0.162313	0.44285	D	0.000470	D	0.89086	0.6615	M	0.66939	2.045	0.32574	N	0.529336	D;D	0.67145	0.986;0.996	P;P	0.61070	0.84;0.883	D	0.89765	0.3950	10	0.72032	D	0.01	.	13.6944	0.62569	1.0:0.0:0.0:0.0	.	582;582	P08F94-2;P08F94	.;PKHD1_HUMAN	L	582	ENSP00000360158:F582L;ENSP00000341097:F582L	ENSP00000341097:F582L	F	-	1	0	PKHD1	52028436	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.733000	0.68571	2.235000	0.73313	0.533000	0.62120	TTC	.		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
IL17A	3605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	52052591	52052591	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:52052591C>T	ENST00000340057.1	+	2	263	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	73					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TCCACCTCACCTTGGAATCTC	0.433																																					p.P73L		.											.	IL17A-90	0			c.C218T						.						125.0	114.0	117.0					6																	52052591		2203	4300	6503	SO:0001583	missense	3605	exon2			CCTCACCTTGGAA	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.218C>T	6.37:g.52052591C>T	ENSP00000344192:p.Pro73Leu	102	0		161	44	NM_002190	0	0	0	0	0	Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486974	0.84854	.	.	ENSG00000112115	ENST00000340057	D	0.83250	-1.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93785	0.7087	10	0.87932	D	0	-19.1344	16.994	0.86361	0.0:1.0:0.0:0.0	.	73	Q16552	IL17_HUMAN	L	73	ENSP00000344192:P73L	ENSP00000344192:P73L	P	+	2	0	IL17A	52160550	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	4.713000	0.61895	2.692000	0.91855	0.650000	0.86243	CCT	.		0.433	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190	
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56336950	56336950	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:56336950C>A	ENST00000361203.3	-	89	21112	c.21105G>T	c.(21103-21105)agG>agT	p.R7035S	DST_ENST00000370788.2_Missense_Mutation_p.R4949S|DST_ENST00000446842.2_Missense_Mutation_p.R6820S|DST_ENST00000370769.4_Missense_Mutation_p.R7146S|DST_ENST00000421834.2_Missense_Mutation_p.R5058S|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.R7324S|DST_ENST00000244364.6_Missense_Mutation_p.R4732S			Q03001	DYST_HUMAN	dystonin	7144					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAAGTTTACCCTAGGATTTT	0.468																																					p.R4732S		.											.	DST-523	0			c.G14196T						.						155.0	138.0	144.0					6																	56336950		1908	4136	6044	SO:0001583	missense	667	exon75			GTTTACCCTAGGA	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21105G>T	6.37:g.56336950C>A	ENSP00000354508:p.Arg7035Ser	138	0		235	84	NM_015548	0	0	11	32	21	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	16.45	3.126742	0.56721	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000523943	T;T;T;T;T;T;T;T	0.64085	0.51;1.2;1.2;-0.08;1.2;1.2;1.2;0.51	5.87	4.08	0.47627	.	0.098089	0.43919	D	0.000515	T	0.70307	0.3209	M	0.86343	2.81	0.33670	D	0.610864	B;D;D;P;P	0.56521	0.255;0.976;0.976;0.546;0.712	B;P;P;B;P	0.59424	0.057;0.857;0.857;0.115;0.642	T	0.76953	-0.2768	9	0.62326	D	0.03	.	10.5629	0.45156	0.0:0.7979:0.0:0.2021	.	5058;7146;7324;7144;4732	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	4732;7324;7146;5058;6820;4949;7035;63	ENSP00000244364:R4732S;ENSP00000359790:R7324S;ENSP00000359805:R7146S;ENSP00000400883:R5058S;ENSP00000393645:R6820S;ENSP00000359824:R4949S;ENSP00000354508:R7035S;ENSP00000430472:R63S	ENSP00000244364:R4732S	R	-	3	2	DST	56444909	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	0.816000	0.27267	1.627000	0.50400	0.655000	0.94253	AGG	.		0.468	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
POU3F2	5454	hgsc.bcm.edu	37	6	99283376	99283376	+	Silent	SNP	T	T	G	rs195860	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:99283376T>G	ENST00000328345.5	+	1	797	c.627T>G	c.(625-627)ggT>ggG	p.G209G		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	209					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCCGGCCGGTCTGCACCACC	0.736													G|||	4460	0.890575	0.8994	0.9121	5008	,	,		6412	0.9544		0.8598	False		,,,				2504	0.8292				p.G209G		.											.	POU3F2-90	0			c.T627G						.	G		3186,306		1453,280,13	4.0	4.0	4.0		627	3.1	1.0	6	dbSNP_79	4	6282,930		2738,806,62	no	coding-synonymous	POU3F2	NM_005604.2		4191,1086,75	GG,GT,TT		12.8952,8.7629,11.5471		209/444	99283376	9468,1236	1746	3606	5352	SO:0001819	synonymous_variant	5454	exon1			GGCCGGTCTGCAC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.627T>G	6.37:g.99283376T>G		0	0		7	7	NM_005604	0	0	0	0	0	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																			T|0.089;G|0.911		0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
KPNA5	3841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	117013269	117013269	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:117013269G>C	ENST00000368564.1	+	3	338	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	KPNA5_ENST00000356348.1_Missense_Mutation_p.E64Q			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	61					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)		ATCTATGCTTGAAAGTCCTAT	0.323																																					p.E64Q		.											.	KPNA5-290	0			c.G190C						.						100.0	100.0	100.0					6																	117013269		2203	4298	6501	SO:0001583	missense	3841	exon3			ATGCTTGAAAGTC	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.190G>C	6.37:g.117013269G>C	ENSP00000357552:p.Glu64Gln	148	0		76	42	NM_002269	0	0	0	2	2	B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192902	0.58017	.	.	ENSG00000196911	ENST00000368564;ENST00000413340;ENST00000356348	T;T;T	0.32023	1.47;1.47;1.47	6.0	6.0	0.97389	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	L	0.35487	1.065	0.54753	D	0.99998	P	0.34699	0.464	B	0.42692	0.395	T	0.02713	-1.1120	10	0.30078	T	0.28	.	20.4716	0.99163	0.0:0.0:1.0:0.0	.	61	O15131	IMA5_HUMAN	Q	64;61;64	ENSP00000357552:E64Q;ENSP00000396791:E61Q;ENSP00000348704:E64Q	ENSP00000348704:E64Q	E	+	1	0	KPNA5	117119962	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	9.348000	0.97062	2.844000	0.97970	0.591000	0.81541	GAA	.		0.323	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
CCDC170	80129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	151936589	151936589	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:151936589G>T	ENST00000239374.7	+	10	1821	c.1722G>T	c.(1720-1722)ttG>ttT	p.L574F	CCDC170_ENST00000367290.5_Missense_Mutation_p.L581F|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	574																	TTAAAACTTTGGAACAGACTA	0.353																																					p.L574F		.											.	.	0			c.G1722T						.						126.0	125.0	125.0					6																	151936589		1832	4083	5915	SO:0001583	missense	80129	exon10			AACTTTGGAACAG	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1722G>T	6.37:g.151936589G>T	ENSP00000239374:p.Leu574Phe	82	1		47	18	NM_025059	0	0	0	0	0	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776344	0.70107	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.77489	2.86;-1.1	5.86	3.98	0.46160	.	0.068329	0.51477	D	0.000086	T	0.80649	0.4663	M	0.77820	2.39	0.48040	D	0.999576	D	0.76494	0.999	D	0.69824	0.966	T	0.79815	-0.1644	10	0.33940	T	0.23	-7.7822	8.1161	0.30944	0.1372:0.1302:0.7327:0.0	.	574	Q8IYT3	CF097_HUMAN	F	574;581	ENSP00000239374:L574F;ENSP00000356259:L581F	ENSP00000239374:L574F	L	+	3	2	C6orf97	151978282	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.061000	0.41403	1.623000	0.50342	0.650000	0.86243	TTG	.		0.353	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNE1	23345	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	152763327	152763327	+	Silent	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:152763327C>A	ENST00000367255.5	-	31	4492	c.3891G>T	c.(3889-3891)gcG>gcT	p.A1297A	SYNE1_ENST00000367253.4_Silent_p.A1297A|SYNE1_ENST00000265368.4_Silent_p.A1297A|SYNE1_ENST00000341594.5_Silent_p.A1363A|SYNE1_ENST00000448038.1_Silent_p.A1304A|SYNE1_ENST00000413186.2_Silent_p.A1297A|SYNE1_ENST00000423061.1_Silent_p.A1304A|SYNE1_ENST00000367248.3_Silent_p.A1287A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1297					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)		GCTGCGCCTGCGCGATCTGCT	0.562										HNSCC(10;0.0054)																											p.A1304A		.											.	SYNE1-607	0			c.G3912T						.						79.0	70.0	73.0					6																	152763327		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon31			CGCCTGCGCGATC	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.3891G>T	6.37:g.152763327C>A		43	1		57	39	NM_033071	0	0	0	0	0	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																			.		0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
WTAP	9589	ucsc.edu;bcgsc.ca	37	6	160169397	160169397	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:160169397G>A	ENST00000358372.4	+	6	2205	c.448G>A	c.(448-450)Gat>Aat	p.D150N	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.D150N	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	150					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTTTACGCCTGATAGGTAAAC	0.448																																					p.D150N		.											.	WTAP-90	0			c.G448A						.						78.0	74.0	75.0					6																	160169397		2203	4300	6503	SO:0001583	missense	9589	exon6			ACGCCTGATAGGT	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.448G>A	6.37:g.160169397G>A	ENSP00000351141:p.Asp150Asn	236	3		176	88	NM_001270533	0	0	5	13	8	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435474	0.83885	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.56103	0.48;0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	M	0.70275	2.135	0.80722	D	1	P;P	0.45715	0.865;0.617	B;P	0.47075	0.421;0.536	T	0.62315	-0.6880	10	0.87932	D	0	-4.1678	19.6107	0.95606	0.0:0.0:1.0:0.0	.	150;150	Q15007;Q5TCL9	FL2D_HUMAN;.	N	150	ENSP00000351141:D150N;ENSP00000336911:D150N	ENSP00000336911:D150N	D	+	1	0	WTAP	160089387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.774000	0.98992	2.648000	0.89879	0.655000	0.94253	GAT	.		0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	
RPS6KA2	6196	bcgsc.ca	37	6	166862233	166862233	+	Silent	SNP	T	T	C	rs2230730	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr6:166862233T>C	ENST00000265678.4	-	14	1534	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	RPS6KA2_ENST00000510118.1_Silent_p.T462T|RPS6KA2_ENST00000481261.2_Silent_p.T348T|RPS6KA2_ENST00000503859.1_Silent_p.T445T|RPS6KA2_ENST00000405189.3_Silent_p.T348T	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	437	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACTCGGTGTCTGTGGCTTTAT	0.582													C|||	996	0.198882	0.1876	0.2723	5008	,	,		24814	0.0764		0.3082	False		,,,				2504	0.1759				p.T445T		.											.	RPS6KA2-1405	0			c.A1335G						.	C	,	931,3475	736.1+/-410.7	99,733,1371	238.0	158.0	185.0		1335,1311	-8.8	0.6	6	dbSNP_120	185	2587,6013	688.1+/-404.3	387,1813,2100	no	coding-synonymous,coding-synonymous	RPS6KA2	NM_001006932.1,NM_021135.4	,	486,2546,3471	CC,CT,TT		30.0814,21.1303,27.0491	,	445/742,437/734	166862233	3518,9488	2203	4300	6503	SO:0001819	synonymous_variant	6196	exon15			GGTGTCTGTGGCT	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1311A>G	6.37:g.166862233T>C		122	1		167	6	NM_001006932	0	0	0	0	0	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	CCDS5294.1																																																																																			T|0.761;C|0.239;A|0.000		0.582	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
PMS2	5395	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	6022454	6022454	+	Splice_Site	SNP	C	C	T	rs267608172		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:6022454C>T	ENST00000265849.7	-	12	2280		c.e12+1		PMS2_ENST00000469652.1_5'Flank|PMS2_ENST00000441476.2_Splice_Site|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AACACACTCACGCTATGAGCC	0.517			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												.		.	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2-1083	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.2174+1G>A	GRCh37	CS083966	PMS2	S		.						20.0	21.0	21.0					7																	6022454		2200	4295	6495	SO:0001630	splice_region_variant	5395	exon13	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CACTCACGCTATG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2174+1G>A	7.37:g.6022454C>T		506	1		624	157	NM_000535	0	0	0	1	1	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	-	16.11	3.030109	0.54790	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.058	0.89368	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	5988980	1.000000	0.71417	0.015000	0.15790	0.005000	0.04900	7.772000	0.85439	2.347000	0.79759	0.555000	0.69702	.	.		0.517	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron
GRID2IP	392862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	6565891	6565891	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:6565891C>T	ENST00000457091.2	-	4	882	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	GRID2IP_ENST00000452113.1_Missense_Mutation_p.G105S|GRID2IP_ENST00000435185.1_Missense_Mutation_p.G112S	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	295	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GGCCCGTGGCCGCGAAGTGTG	0.642																																					p.G295S		.											.	.	0			c.G883A						.						62.0	67.0	65.0					7																	6565891		692	1591	2283	SO:0001583	missense	392862	exon4			CGTGGCCGCGAAG		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.883G>A	7.37:g.6565891C>T	ENSP00000397351:p.Gly295Ser	70	0		87	30	NM_001145118	0	0	0	0	0		Missense_Mutation	SNP	ENST00000457091.2	37	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565124	0.96527	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.57907	0.37;0.37;0.37	4.81	4.81	0.61882	PDZ/DHR/GLGF (4);	0.000000	0.85682	U	0.000000	T	0.69024	0.3065	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72459	-0.4287	10	0.87932	D	0	.	15.7435	0.77920	0.0:1.0:0.0:0.0	.	295	A4D2P6	GRD2I_HUMAN	S	105;112;295	ENSP00000397887:G105S;ENSP00000408364:G112S;ENSP00000397351:G295S	ENSP00000408364:G112S	G	-	1	0	GRID2IP	6532416	1.000000	0.71417	0.949000	0.38748	0.974000	0.67602	6.707000	0.74654	2.378000	0.81104	0.542000	0.68232	GGC	.		0.642	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
ETV1	2115	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	13971174	13971174	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971174delG	ENST00000430479.1	-	9	1422	c.755delC	c.(754-756)cctfs	p.P253fs	ETV1_ENST00000403527.1_Frame_Shift_Del_p.P213fs|ETV1_ENST00000403685.1_Frame_Shift_Del_p.P235fs|ETV1_ENST00000399357.3_Frame_Shift_Del_p.P150fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.P267fs|ETV1_ENST00000343495.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000420159.2_Frame_Shift_Del_p.P195fs|ETV1_ENST00000405192.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000405218.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Frame_Shift_Del_p.P235fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	253				Missing (in Ref. 2; CAA60642). {ECO:0000305}.	axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATCAGAGGAGGGGGAAAGCT	0.507			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.P252fs		.		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	ETV1-659	0			c.755delC						.						97.0	97.0	97.0					7																	13971174		1951	4137	6088	SO:0001589	frameshift_variant	2115	exon9			AGAGGAGGGGGAA		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.755delC	7.37:g.13971174delG	ENSP00000405327:p.Pro253fs	149	0		176	58	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Del	DEL	ENST00000430479.1	37	CCDS55088.1																																																																																			.		0.507	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
ETV1	2115	hgsc.bcm.edu	37	7	13971176	13971177	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971176_13971177delGG	ENST00000430479.1	-	9	1419_1420	c.752_753delCC	c.(751-753)cccfs	p.P253fs	ETV1_ENST00000403527.1_Frame_Shift_Del_p.P213fs|ETV1_ENST00000403685.1_Frame_Shift_Del_p.P235fs|ETV1_ENST00000399357.3_Frame_Shift_Del_p.P150fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.P267fs|ETV1_ENST00000343495.5_Frame_Shift_Del_p.P235fs|ETV1_ENST00000420159.2_Frame_Shift_Del_p.P195fs|ETV1_ENST00000405192.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000405218.2_Frame_Shift_Del_p.P253fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Frame_Shift_Del_p.P235fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	253				Missing (in Ref. 2; CAA60642). {ECO:0000305}.	axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCAGAGGAGGGGGAAAGCTTTG	0.51			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.251_251del		.		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	ETV1-659	0			c.752_753del						.																																			SO:0001589	frameshift_variant	2115	exon9			AGGAGGGGGAAAG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.752_753delCC	7.37:g.13971176_13971177delGG	ENSP00000405327:p.Pro253fs	150	0		178	0	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Del	DEL	ENST00000430479.1	37	CCDS55088.1																																																																																			.		0.510	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
ETV1	2115	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	7	13971177	13971177	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:13971177G>A	ENST00000430479.1	-	9	1419	c.752C>T	c.(751-753)cCc>cTc	p.P251L	ETV1_ENST00000403527.1_Missense_Mutation_p.P211L|ETV1_ENST00000403685.1_Missense_Mutation_p.P233L|ETV1_ENST00000399357.3_Missense_Mutation_p.P148L|ETV1_ENST00000405358.4_Missense_Mutation_p.P265L|ETV1_ENST00000343495.5_Missense_Mutation_p.P233L|ETV1_ENST00000420159.2_Missense_Mutation_p.P193L|ETV1_ENST00000405192.2_Missense_Mutation_p.P251L|ETV1_ENST00000405218.2_Missense_Mutation_p.P251L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Missense_Mutation_p.P233L	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	251					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGAGGAGGGGGAAAGCTTTG	0.512			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.P251L		.		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	ETV1-659	0			c.C752T						.						100.0	100.0	100.0					7																	13971177		1959	4140	6099	SO:0001583	missense	2115	exon9			GGAGGGGGAAAGC		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.752C>T	7.37:g.13971177G>A	ENSP00000405327:p.Pro251Leu	149	0		178	59	NM_004956	0	0	0	0	0	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414961	0.96092	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.099819	0.64402	D	0.000001	T	0.48333	0.1494	M	0.67397	2.05	0.80722	D	1	P;B;P;P;P;D;P;B	0.89917	0.669;0.321;0.896;0.873;0.786;1.0;0.849;0.242	B;B;P;P;P;D;B;B	0.87578	0.266;0.205;0.654;0.523;0.731;0.998;0.338;0.232	T	0.08806	-1.0704	10	0.38643	T	0.18	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	262;233;265;193;148;211;193;251	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	L	251;233;233;193;148;251;265;211;251;233;193;148	ENSP00000405327:P251L;ENSP00000242066:P233L;ENSP00000340853:P233L;ENSP00000411626:P193L;ENSP00000382293:P148L;ENSP00000385381:P251L;ENSP00000384085:P265L;ENSP00000384138:P211L;ENSP00000385551:P251L;ENSP00000385686:P233L;ENSP00000393078:P193L;ENSP00000394710:P148L	ENSP00000242066:P233L	P	-	2	0	ETV1	13937702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	CCC	.		0.512	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
FERD3L	222894	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	19184760	19184760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:19184760C>A	ENST00000275461.3	-	1	284	c.226G>T	c.(226-228)Gag>Tag	p.E76*	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	76	Poly-Glu.				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						tcctcctcctcttctccgtcc	0.632																																					p.E76X		.											.	FERD3L-153	0			c.G226T						.						68.0	48.0	54.0					7																	19184760		2203	4300	6503	SO:0001587	stop_gained	222894	exon1			CCTCCTCTTCTCC	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.226G>T	7.37:g.19184760C>A	ENSP00000275461:p.Glu76*	73	0		65	22	NM_152898	0	0	0	0	0	Q495K0	Nonsense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200461	0.79015	.	.	ENSG00000146618	ENST00000275461	.	.	.	5.66	5.66	0.87406	.	0.735628	0.13201	N	0.405992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-5.8619	17.9316	0.88999	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000275461:E76X	E	-	1	0	FERD3L	19151285	0.902000	0.30710	0.790000	0.31976	0.748000	0.42578	3.048000	0.49862	2.693000	0.91896	0.650000	0.86243	GAG	.		0.632	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1		
CDK13	8621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	40085455	40085455	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:40085455G>A	ENST00000181839.4	+	6	2979	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CDK13_ENST00000340829.5_Missense_Mutation_p.E792K|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	792	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCTGGTGTTTGAATATATGGA	0.323																																					p.E792K		.											.	CDK13-548	0			c.G2374A						.						117.0	121.0	120.0					7																	40085455		2203	4300	6503	SO:0001583	missense	8621	exon6			GTGTTTGAATATA	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2374G>A	7.37:g.40085455G>A	ENSP00000181839:p.Glu792Lys	47	0		53	21	NM_003718	0	0	5	9	4	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144934	0.94603	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.63913	-0.07;-0.07	4.71	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81978	0.4937	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.995;0.994;1.0	D;D;D	0.91635	0.968;0.915;0.999	D	0.85257	0.1048	8	.	.	.	-16.0713	16.0278	0.80555	0.0:0.0:1.0:0.0	.	178;792;792	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	K	792	ENSP00000181839:E792K;ENSP00000340557:E792K	.	E	+	1	0	CDK13	40051980	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.657000	0.98554	2.440000	0.82611	0.650000	0.86243	GAA	.		0.323	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
SUN3	256979	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	48068434	48068434	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:48068434G>A	ENST00000297325.4	-	1	261	c.102C>T	c.(100-102)gaC>gaT	p.D34D	SUN3_ENST00000453192.2_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_Silent_p.D34D|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	34						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGATTTTCGTCCTCTGATA	0.458																																					p.D34D		.											.	SUN3-514	0			c.C102T						.						218.0	191.0	200.0					7																	48068434		2203	4300	6503	SO:0001819	synonymous_variant	256979	exon2			ATTTTCGTCCTCT	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.102C>T	7.37:g.48068434G>A		176	0		218	18	NM_152782	0	0	0	0	0	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1																																																																																			.		0.458	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	48314045	48314045	+	Silent	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:48314045C>G	ENST00000435803.1	+	17	4806	c.4782C>G	c.(4780-4782)ggC>ggG	p.G1594G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1594					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						ACAGTGTAGGCAATTCCATTT	0.323																																					p.G1594G		.											.	ABCA13-521	0			c.C4782G						.						140.0	140.0	140.0					7																	48314045		1844	4086	5930	SO:0001819	synonymous_variant	154664	exon17			TGTAGGCAATTCC	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.4782C>G	7.37:g.48314045C>G		91	0		69	28	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.323	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
IKZF1	10320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	50444361	50444361	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:50444361G>T	ENST00000331340.3	+	4	446	c.291G>T	c.(289-291)agG>agT	p.R97S	IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R97S|IKZF1_ENST00000357364.4_Missense_Mutation_p.R97S|IKZF1_ENST00000349824.4_Missense_Mutation_p.R97S|IKZF1_ENST00000440768.2_Missense_Mutation_p.R97S|IKZF1_ENST00000359197.5_Missense_Mutation_p.R97S|IKZF1_ENST00000343574.5_Intron	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)	97					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)				GCTCCCACAGGGACCAAGGCA	0.502			"""D,T"""	BCL6	"""ALL, DLBCL"""																																p.R97S		.		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	.	IKZF1-1242	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)	c.G291T						.						94.0	100.0	98.0					7																	50444361		1942	4133	6075	SO:0001583	missense	10320	exon4			CCACAGGGACCAA	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.291G>T	7.37:g.50444361G>T	ENSP00000331614:p.Arg97Ser	143	0		197	80	NM_006060	0	0	0	0	0	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37		.	.	.	.	.	.	.	.	.	.	G	5.916	0.353057	0.11182	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.06294	3.43;3.32;4.51;3.51;3.41;3.43	4.45	2.33	0.28932	.	0.621024	0.17431	N	0.174465	T	0.02929	0.0087	.	.	.	0.29826	N	0.83046	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.43393	-0.9394	9	0.10902	T	0.67	-5.1939	5.1725	0.15118	0.0:0.2018:0.2599:0.5383	.	97;97	Q13422-7;Q13422	.;IKZF1_HUMAN	S	97	ENSP00000352123:R97S;ENSP00000401507:R97S;ENSP00000342485:R97S;ENSP00000349928:R97S;ENSP00000331614:R97S;ENSP00000413025:R97S	ENSP00000331614:R97S	R	+	3	2	IKZF1	50411855	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.474000	0.35398	0.340000	0.23745	0.313000	0.20887	AGG	.		0.502	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	82784132	82784132	+	Missense_Mutation	SNP	T	T	A	rs374237630		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:82784132T>A	ENST00000333891.9	-	2	2162	c.1825A>T	c.(1825-1827)Aca>Tca	p.T609S	PCLO_ENST00000423517.2_Missense_Mutation_p.T609S	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						TCAGTGCATGTGTTAAAATTG	0.428																																					p.T609S		.											.	PCLO-29	0			c.A1825T						.						207.0	198.0	201.0					7																	82784132		1955	4155	6110	SO:0001583	missense	27445	exon2			TGCATGTGTTAAA	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.1825A>T	7.37:g.82784132T>A	ENSP00000334319:p.Thr609Ser	180	0		272	90	NM_014510	0	0	0	0	0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798356	0.31777	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.77229	-1.08;-1.08	5.6	4.38	0.52667	.	.	.	.	.	T	0.70064	0.3181	L	0.41356	1.27	0.80722	D	1	B;B	0.25007	0.069;0.116	B;B	0.26969	0.028;0.075	T	0.71185	-0.4667	9	0.87932	D	0	.	11.5735	0.50848	0.1336:0.0:0.0:0.8664	.	609;609	Q9Y6V0-5;Q9Y6V0-6	.;.	S	555;609;609	ENSP00000334319:T609S;ENSP00000388393:T609S	ENSP00000334319:T609S	T	-	1	0	PCLO	82622068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.772000	0.62324	2.140000	0.66376	0.528000	0.53228	ACA	.		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3D	223117	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	84685101	84685101	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:84685101G>T	ENST00000284136.6	-	7	836	c.793C>A	c.(793-795)Cgt>Agt	p.R265S	SEMA3D_ENST00000444867.1_Missense_Mutation_p.R265S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	265	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GATGATTCACGAAAGAAGAAA	0.318																																					p.R265S	Ovarian(63;442 1191 17318 29975 31528)	.											.	SEMA3D-138	0			c.C793A						.						69.0	69.0	69.0					7																	84685101		2202	4299	6501	SO:0001583	missense	223117	exon7			ATTCACGAAAGAA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.793C>A	7.37:g.84685101G>T	ENSP00000284136:p.Arg265Ser	45	0		26	12	NM_152754	0	0	0	0	0	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484656	0.84854	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.12569	2.67;2.67	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099426	0.64402	N	0.000001	T	0.36026	0.0952	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.945	T	0.01468	-1.1347	10	0.40728	T	0.16	.	18.1716	0.89747	0.0:0.0:1.0:0.0	.	265;265	C9JYT6;O95025	.;SEM3D_HUMAN	S	265	ENSP00000284136:R265S;ENSP00000401366:R265S	ENSP00000284136:R265S	R	-	1	0	SEMA3D	84523037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.533000	0.85409	0.655000	0.94253	CGT	.		0.318	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	87178755	87178755	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:87178755A>T	ENST00000265724.3	-	15	2051	c.1634T>A	c.(1633-1635)cTg>cAg	p.L545Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.L481Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	545	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|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)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTGCGAACCAGGGCACGTGC	0.557																																					p.L545Q		.											.	ABCB1-582	0			c.T1634A						.						134.0	113.0	120.0					7																	87178755		2203	4300	6503	SO:0001583	missense	5243	exon15			CGAACCAGGGCAC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1634T>A	7.37:g.87178755A>T	ENSP00000265724:p.Leu545Gln	123	0		191	51	NM_000927	0	0	0	0	0	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720726	0.89205	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.87887	-2.31;-2.31	5.8	5.8	0.92144	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000002	D	0.96194	0.8759	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.97791	1.0238	10	0.87932	D	0	-11.1597	16.1435	0.81544	1.0:0.0:0.0:0.0	.	481;545	B5AK60;P08183	.;MDR1_HUMAN	Q	326;545;481	ENSP00000265724:L545Q;ENSP00000444095:L481Q	ENSP00000265724:L545Q	L	-	2	0	ABCB1	87016691	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.315000	0.96313	2.212000	0.71576	0.528000	0.53228	CTG	.		0.557	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
RUNDC3B	154661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	87400049	87400049	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:87400049T>A	ENST00000338056.3	+	8	1244	c.833T>A	c.(832-834)cTt>cAt	p.L278H	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L261H|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L261H	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	278										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAGTATCAGCTTACCCTGGAA	0.358																																					p.L278H		.											.	RUNDC3B-69	0			c.T833A						.						69.0	65.0	66.0					7																	87400049		2203	4300	6503	SO:0001583	missense	154661	exon8			ATCAGCTTACCCT		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.833T>A	7.37:g.87400049T>A	ENSP00000337732:p.Leu278His	123	0		155	68	NM_138290	0	0	0	0	0	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714428	0.89112	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.48522	0.81;0.81;0.81	5.51	5.51	0.81932	.	0.117433	0.64402	D	0.000009	T	0.57125	0.2032	L	0.34521	1.04	0.53005	D	0.999969	D;D;D;D;D	0.76494	0.993;0.993;0.996;0.999;0.991	P;P;P;D;P	0.66847	0.781;0.781;0.794;0.947;0.827	T	0.57774	-0.7753	10	0.46703	T	0.11	-8.3564	15.6326	0.76923	0.0:0.0:0.0:1.0	.	261;261;183;261;278	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	H	278;261;261	ENSP00000337732:L278H;ENSP00000420394:L261H;ENSP00000378149:L261H	ENSP00000337732:L278H	L	+	2	0	RUNDC3B	87237985	1.000000	0.71417	0.852000	0.33557	0.981000	0.71138	5.795000	0.69074	2.065000	0.61736	0.528000	0.53228	CTT	.		0.358	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
STEAP2	261729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	89854425	89854425	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:89854425C>T	ENST00000287908.3	+	2	422	c.29C>T	c.(28-30)cCt>cTt	p.P10L	STEAP2_ENST00000394622.2_Missense_Mutation_p.P10L|STEAP2_ENST00000394621.2_Missense_Mutation_p.P10L|STEAP2_ENST00000402625.2_Missense_Mutation_p.P10L|STEAP2_ENST00000394632.1_Missense_Mutation_p.P10L|STEAP2_ENST00000394626.1_Missense_Mutation_p.P10L|STEAP2_ENST00000394629.2_Missense_Mutation_p.P10L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	10					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGGGAAGCCCTAAGAGCCTT	0.393																																					p.P10L		.											.	STEAP2-92	0			c.C29T						.						114.0	107.0	110.0					7																	89854425		2203	4300	6503	SO:0001583	missense	261729	exon3			GAAGCCCTAAGAG	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.29C>T	7.37:g.89854425C>T	ENSP00000287908:p.Pro10Leu	121	0		172	54	NM_001040665	0	0	2	2	0	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336390	0.60963	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000426158;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T;T;T	0.46819	1.93;3.22;2.97;3.22;2.91;0.86;3.22;2.95;2.97	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21753	0.015;0.005;0.005;0.06	B;B;B;B	0.17433	0.016;0.003;0.003;0.018	T	0.18999	-1.0319	10	0.87932	D	0	-16.6837	20.1338	0.98010	0.0:1.0:0.0:0.0	.	10;10;10;10	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	10	ENSP00000401783:P10L;ENSP00000287908:P10L;ENSP00000378123:P10L;ENSP00000378120:P10L;ENSP00000378128:P10L;ENSP00000415931:P10L;ENSP00000378119:P10L;ENSP00000384191:P10L;ENSP00000378125:P10L	ENSP00000287908:P10L	P	+	2	0	STEAP2	89692361	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.647000	0.74354	2.770000	0.95276	0.655000	0.94253	CCT	.		0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	114268677	114268677	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:114268677C>A	ENST00000393494.2	+	4	620	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Missense_Mutation_p.S139Y|FOXP2_ENST00000393500.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000360232.4_Missense_Mutation_p.S114Y|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393491.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.S114Y|FOXP2_ENST00000393489.3_Missense_Mutation_p.S22Y|FOXP2_ENST00000378237.3_Missense_Mutation_p.S114Y|FOXP2_ENST00000390668.3_Missense_Mutation_p.S138Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.S114Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.S114Y			O15409	FOXP2_HUMAN	forkhead box P2	114	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAGTCCTGTCTCCTCAGCAG	0.517																																					p.S139Y		.											.	FOXP2-295	0			c.C416A						.						228.0	183.0	199.0					7																	114268677		2203	4300	6503	SO:0001583	missense	93986	exon4			TCCTGTCTCCTCA	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.341C>A	7.37:g.114268677C>A	ENSP00000377132:p.Ser114Tyr	98	0		140	39	NM_001172767	0	0	0	0	0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533008	0.64972	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;1.25;1.92;1.49;1.25;1.25;0.77;1.25;1.51;1.22	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D;D;D	0.64830	0.99;0.99;0.99;0.994;0.994;0.99;0.994;0.994	D;D;D;D;D;D;D;D	0.77004	0.962;0.962;0.962;0.983;0.989;0.962;0.983;0.983	D	0.86065	0.1534	10	0.87932	D	0	.	16.1152	0.81302	0.1348:0.8652:0.0:0.0	.	114;114;22;114;138;114;139;139	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;.;FOXP2_HUMAN;.;.	Y	22;114;114;139;114;114;114;114;22;114;114;138;22	ENSP00000377137:S22Y;ENSP00000377132:S114Y;ENSP00000386200:S139Y;ENSP00000385069:S114Y;ENSP00000265436:S114Y;ENSP00000367482:S114Y;ENSP00000377129:S22Y;ENSP00000353367:S114Y;ENSP00000375084:S138Y;ENSP00000377130:S22Y	ENSP00000319424:S114Y	S	+	2	0	FOXP2	114055913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.403000	0.46800	0.650000	0.86243	TCT	.		0.517	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	117232327	117232327	+	Silent	SNP	C	C	G	rs1800102		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:117232327C>G	ENST00000003084.6	+	14	2238	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	CFTR_ENST00000454343.1_Silent_p.L641L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	702					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ATTCTATTCTCAATCCAATCA	0.383									Cystic Fibrosis																												p.L702L		.											.	CFTR-518	0			c.C2106G						.						39.0	41.0	40.0					7																	117232327		2203	4300	6503	SO:0001819	synonymous_variant	1080	exon14	Familial Cancer Database	CF	TATTCTCAATCCA	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2106C>G	7.37:g.117232327C>G		30	0		16	6	NM_000492	0	0	0	0	0	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																			.		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CTTNBP2	83992	hgsc.bcm.edu	37	7	117358169	117358169	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:117358169G>T	ENST00000160373.3	-	22	4740	c.4649C>A	c.(4648-4650)gCt>gAt	p.A1550D		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1550					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAATCAGCAATCTAGAA	0.408																																					p.A1550D		.											.	CTTNBP2-94	0			c.C4649A						.						73.0	65.0	68.0					7																	117358169		2203	4300	6503	SO:0001583	missense	83992	exon22			GAATCAGCAATCT		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4649C>A	7.37:g.117358169G>T	ENSP00000160373:p.Ala1550Asp	46	0		75	4	NM_033427	0	0	0	0	0	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.007022|4.007022	0.74932|0.74932	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.68025|.	-0.3|.	5.61|5.61	4.72|4.72	0.59763|0.59763	.|.	0.501287|.	0.23455|.	N|.	0.047993|.	T|.	0.65080|.	0.2657|.	M|M	0.65975|0.65975	2.015|2.015	0.42037|0.42037	D|D	0.99105|0.99105	D|.	0.56746|.	0.977|.	P|.	0.50192|.	0.634|.	T|.	0.64232|.	-0.6456|.	10|.	0.72032|.	D|.	0.01|.	-24.5077|-24.5077	10.5072|10.5072	0.44841|0.44841	0.1472:0.0:0.8528:0.0|0.1472:0.0:0.8528:0.0	.|.	1550|.	Q8WZ74|.	CTTB2_HUMAN|.	D|X	1550|1037	ENSP00000160373:A1550D|.	ENSP00000160373:A1550D|.	A|C	-|-	2|3	0|2	CTTNBP2|CTTNBP2	117145405|117145405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.675000|2.675000	0.46875|0.46875	2.633000|2.633000	0.89246|0.89246	0.563000|0.563000	0.77884|0.77884	GCT|TGC	.		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
FEZF1	389549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	121942939	121942939	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:121942939C>A	ENST00000442488.2	-	3	1050	c.983G>T	c.(982-984)aGt>aTt	p.S328I	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.S278I|FEZF1_ENST00000331178.4_Missense_Mutation_p.S324I	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	328					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TAAAGTGGAACTTCTATTAAA	0.388																																					p.S328I		.											.	FEZF1-91	0			c.G983T						.						111.0	112.0	112.0					7																	121942939		2203	4300	6503	SO:0001583	missense	389549	exon3			GTGGAACTTCTAT	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.983G>T	7.37:g.121942939C>A	ENSP00000411145:p.Ser328Ile	105	0		89	30	NM_001024613	0	0	0	0	0	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914421	0.92178	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.23147	1.92;1.92;1.92	5.36	5.36	0.76844	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	0.46964	0.1420	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.27191	-1.0081	10	0.48119	T	0.1	-4.3912	19.4633	0.94927	0.0:1.0:0.0:0.0	.	328;278	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	I	328;324;278	ENSP00000411145:S328I;ENSP00000332777:S324I;ENSP00000392727:S278I	ENSP00000332777:S324I	S	-	2	0	FEZF1	121730175	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.768000	0.85345	2.666000	0.90696	0.655000	0.94253	AGT	.		0.388	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
SLC13A1	6561	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	122759235	122759235	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:122759235C>A	ENST00000194130.2	-	13	1451	c.1412G>T	c.(1411-1413)tGg>tTg	p.W471L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	471					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AATTATTAGCCATGCTGGTAA	0.348																																					p.W471L		.											.	SLC13A1-92	0			c.G1412T						.						96.0	99.0	98.0					7																	122759235		2203	4300	6503	SO:0001583	missense	6561	exon13			ATTAGCCATGCTG		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1412G>T	7.37:g.122759235C>A	ENSP00000194130:p.Trp471Leu	71	1		74	28	NM_022444	0	0	0	0	0	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343973	0.41498	.	.	ENSG00000081800	ENST00000194130	T	0.02258	4.37	5.26	5.26	0.73747	.	0.248184	0.43260	D	0.000585	T	0.02533	0.0077	N	0.19112	0.55	0.80722	D	1	B;B	0.29481	0.245;0.245	B;B	0.36608	0.229;0.229	T	0.54180	-0.8332	10	0.07325	T	0.83	-23.5817	17.8468	0.88732	0.0:1.0:0.0:0.0	.	471;471	A4D0X1;Q9BZW2	.;S13A1_HUMAN	L	471	ENSP00000194130:W471L	ENSP00000194130:W471L	W	-	2	0	SLC13A1	122546471	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	2.161000	0.42358	2.441000	0.82636	0.591000	0.81541	TGG	.		0.348	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
POT1	25913	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	124503540	124503540	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:124503540C>A	ENST00000357628.3	-	8	1008	c.410G>T	c.(409-411)cGt>cTt	p.R137L	POT1_ENST00000393329.1_Missense_Mutation_p.R6L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	137			R -> H (in CMM10; increased telomere intensity signals and telomere fragility). {ECO:0000269|PubMed:24686846}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.R137L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGCCCAAACACGTAAGGCTTC	0.438																																					p.R137L	Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	.											.	POT1-227	2	Substitution - Missense(2)	lung(2)	c.G410T						.						164.0	147.0	153.0					7																	124503540		2203	4300	6503	SO:0001583	missense	25913	exon8			CAAACACGTAAGG	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.410G>T	7.37:g.124503540C>A	ENSP00000350249:p.Arg137Leu	191	0		267	96	NM_015450	0	0	0	1	1	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737655	0.89573	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.63417	-0.04;0.04	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.055770	0.64402	D	0.000001	T	0.81475	0.4830	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83571	0.0112	10	0.62326	D	0.03	0.1077	18.2686	0.90060	0.0:1.0:0.0:0.0	.	137	Q9NUX5	POTE1_HUMAN	L	137;6;137;137;137;136	ENSP00000350249:R137L;ENSP00000377002:R6L	ENSP00000265391:R136L	R	-	2	0	POT1	124290776	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.047000	0.71038	2.543000	0.85770	0.650000	0.86243	CGT	.		0.438	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
BRAF	673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	140453154	140453154	+	Missense_Mutation	SNP	T	T	C	rs121913338		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:140453154T>C	ENST00000288602.6	-	15	1841	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in NHL). {ECO:0000269|PubMed:14612909}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594G(35)|p.D594V(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TAGACCAAAATCACCTATTTT	0.373		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.D594G	Colon(40;35 892 2973 5743 27438)	.		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	BRAF-92146	38	Substitution - Missense(38)	large_intestine(16)|skin(8)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|stomach(2)|endometrium(2)|ovary(1)	c.A1781G						.						107.0	100.0	103.0					7																	140453154		2203	4300	6503	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	CCAAAATCACCTA	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1781A>G	7.37:g.140453154T>C	ENSP00000288602:p.Asp594Gly	54	0		77	25	NM_004333	0	0	0	1	1	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.868575|4.868575	0.91587|0.91587	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.99853|.	-7.18|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86830|0.86830	0.6027|0.6027	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.74348|.	0.983|.	D|D	0.90563|0.90563	0.4517|0.4517	10|5	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	594|.	P15056|.	BRAF_HUMAN|.	G|V	594|202	ENSP00000288602:D594G|.	ENSP00000288602:D594G|.	D|I	-|-	2|1	0|0	BRAF|BRAF	140099623|140099623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GAT|ATT	.		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
CLEC5A	23601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141635690	141635690	+	Missense_Mutation	SNP	G	G	A	rs117965702	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:141635690G>A	ENST00000546910.1	-	5	465	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CLEC5A_ENST00000438351.1_Missense_Mutation_p.S67L|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.S67L|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	90	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATTCCAAGATGATTCAGAAGT	0.423																																					p.S90L	GBM(154;1592 2613 3360 42983)	.											.	CLEC5A-90	0			c.C269T						.						129.0	120.0	123.0					7																	141635690		2203	4300	6503	SO:0001583	missense	23601	exon5			CAAGATGATTCAG		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.269C>T	7.37:g.141635690G>A	ENSP00000449999:p.Ser90Leu	60	0		76	27	NM_013252	0	0	0	0	0	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193281	0.22037	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.42131	0.98;0.98;0.98	4.75	-8.12	0.01078	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.143410	0.02090	N	0.053085	T	0.20210	0.0486	N	0.04705	-0.18	0.09310	N	1	B;B;B;B	0.21688	0.003;0.015;0.059;0.026	B;B;B;B	0.25759	0.002;0.063;0.059;0.063	T	0.19321	-1.0309	10	0.38643	T	0.18	0.05	7.336	0.26609	0.1898:0.0:0.5559:0.2543	.	67;67;90;90	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	L	90;67;67	ENSP00000449999:S90L;ENSP00000446890:S67L;ENSP00000414897:S67L	ENSP00000265306:S90L	S	-	2	0	CLEC5A	141282159	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.698000	0.00826	-1.093000	0.03058	-0.311000	0.09066	TCA	G|0.998;T|0.002		0.423	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252	
OR6V1	346517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142750104	142750104	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:142750104G>C	ENST00000418316.1	+	1	688	c.667G>C	c.(667-669)Gtg>Ctg	p.V223L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGTGACCACTGTGCTGCGGAT	0.542																																					p.V223L		.											.	OR6V1-23	0			c.G667C						.						136.0	142.0	140.0					7																	142750104		2049	4199	6248	SO:0001583	missense	346517	exon1			ACCACTGTGCTGC		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.667G>C	7.37:g.142750104G>C	ENSP00000396085:p.Val223Leu	208	0		264	102	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413557	0.25465	.	.	ENSG00000225781	ENST00000418316	T	0.00291	8.27	4.72	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	D	0.68943	0.961	T	0.54603	-0.8269	9	0.87932	D	0	.	6.2776	0.20989	0.3022:0.0:0.6978:0.0	.	223	Q8N148	OR6V1_HUMAN	L	223	ENSP00000396085:V223L	ENSP00000396085:V223L	V	+	1	0	OR6V1	142460226	0.000000	0.05858	0.004000	0.12327	0.085000	0.17905	-0.102000	0.10956	0.603000	0.29913	0.655000	0.94253	GTG	.		0.542	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
SSPO	23145	hgsc.bcm.edu;mdanderson.org	37	7	149518553	149518553	+	RNA	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr7:149518553C>T	ENST00000378016.2	+	0	12622							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGCCCTCAGCCCTCGTG	0.716																																					p.Q4208X		.											.	.	0			c.C12622T						.						4.0	6.0	6.0					7																	149518553		1871	3980	5851			23145	exon88			TGCCCTCAGCCCT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518553C>T		9	0		56	22	NM_198455	0	0	0	0	0	Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.716	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
MFHAS1	9258	hgsc.bcm.edu	37	8	8750467	8750467	+	Silent	SNP	A	A	G	rs1062988	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:8750467A>G	ENST00000276282.6	-	1	688	c.102T>C	c.(100-102)ctT>ctC	p.L34L	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	34										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		cggcggcggTAAGCGTGAGCT	0.741													G|||	814	0.16254	0.3419	0.1196	5008	,	,		8355	0.001		0.1521	False		,,,				2504	0.1278				p.L34L	Melanoma(103;1201 2045 17515 28966)	.											.	MFHAS1-90	0			c.T102C						.	G		875,3021		81,713,1154	4.0	4.0	4.0		102	2.3	1.0	8	dbSNP_86	4	854,6846		52,750,3048	no	coding-synonymous	MFHAS1	NM_004225.2		133,1463,4202	GG,GA,AA		11.0909,22.4589,14.9103		34/1053	8750467	1729,9867	1948	3850	5798	SO:0001819	synonymous_variant	9258	exon1			GGCGGTAAGCGTG	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.102T>C	8.37:g.8750467A>G		0	0		7	6	NM_004225	0	0	0	0	0	Q96CI0	Silent	SNP	ENST00000276282.6	37	CCDS34844.1																																																																																			A|0.857;G|0.143		0.741	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225	
UNC5D	137970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	35579843	35579843	+	Silent	SNP	C	C	G	rs577473098	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:35579843C>G	ENST00000404895.2	+	9	1561	c.1233C>G	c.(1231-1233)ggC>ggG	p.G411G	UNC5D_ENST00000453357.2_Silent_p.G406G|UNC5D_ENST00000416672.1_Silent_p.G416G|UNC5D_ENST00000287272.2_Silent_p.G355G|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000420357.1_Silent_p.G344G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	411					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)		GTGACTATGGCGTGGACGTCA	0.557																																					p.G411G		.											.	UNC5D-96	0			c.C1233G						.						273.0	231.0	245.0					8																	35579843		2203	4300	6503	SO:0001819	synonymous_variant	137970	exon9			CTATGGCGTGGAC	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.1233C>G	8.37:g.35579843C>G		166	0		207	120	NM_080872	0	0	0	0	0	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																			.		0.557	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
PRKDC	5591	broad.mit.edu	37	8	48801138	48801138	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:48801138C>A	ENST00000314191.2	-	35	4407	c.4351G>T	c.(4351-4353)Gtg>Ttg	p.V1451L	AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.V1451L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1452					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGGCAGACACAACAGCAGCC	0.438								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			.						.						29.0	31.0	30.0					8																	48801138		1989	4184	6173	SO:0001583	missense	5591	.			CAGACACAACAGC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4351G>T	8.37:g.48801138C>A	ENSP00000313420:p.Val1451Leu	244	1		160	4	.	0	0	1	1	0	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	2.029	-0.422921	0.04734	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02158	4.47;4.42	5.37	2.43	0.29744	.	0.162693	0.40908	N	0.000990	T	0.01320	0.0043	N	0.25144	0.715	0.27079	N	0.963125	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47649	-0.9101	10	0.06494	T	0.89	.	3.8507	0.08954	0.1193:0.405:0.3752:0.1004	.	1451;1452	E7EUY0;P78527	.;PRKDC_HUMAN	L	1451	ENSP00000313420:V1451L;ENSP00000345182:V1451L	ENSP00000313420:V1451L	V	-	1	0	PRKDC	48963691	0.998000	0.40836	0.016000	0.15963	0.575000	0.36095	3.009000	0.49552	0.603000	0.29913	-0.229000	0.12294	GTG	.		0.438	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PXDNL	137902	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	52321329	52321329	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:52321329G>T	ENST00000356297.4	-	17	2955	c.2855C>A	c.(2854-2856)cCc>cAc	p.P952H	PXDNL_ENST00000543296.1_Missense_Mutation_p.P952H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	952					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGAAACAGGGGCTCTCCTG	0.642																																					p.P952H		.											.	PXDNL-70	0			c.C2855A						.						13.0	15.0	14.0					8																	52321329		1976	4145	6121	SO:0001583	missense	137902	exon17			AAACAGGGGCTCT		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2855C>A	8.37:g.52321329G>T	ENSP00000348645:p.Pro952His	111	1		144	82	NM_144651	0	0	0	0	0	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.859617|1.859617	0.32884|0.32884	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|T	0.69175|0.68331	-0.38;-0.38|-0.32	4.02|4.02	2.16|2.16	0.27623|0.27623	.|.	0.127663|0.127663	0.35495|0.35495	N|N	0.003167|0.003167	T|T	0.69913|0.69913	0.3164|0.3164	M|M	0.82630|0.82630	2.6|2.6	0.24756|0.24756	N|N	0.992955|0.992955	D|.	0.69078|.	0.997|.	D|.	0.66979|.	0.948|.	T|T	0.59193|0.59193	-0.7500|-0.7500	10|8	0.72032|0.27785	D|T	0.01|0.31	.|.	6.9385|6.9385	0.24481|0.24481	0.1042:0.1771:0.7187:0.0|0.1042:0.1771:0.7187:0.0	.|.	952|.	A1KZ92|.	PXDNL_HUMAN|.	H|T	952|71	ENSP00000348645:P952H;ENSP00000444865:P952H|ENSP00000428114:P71T	ENSP00000348645:P952H|ENSP00000428114:P71T	P|P	-|-	2|1	0|0	PXDNL|PXDNL	52483882|52483882	0.236000|0.236000	0.23804|0.23804	0.002000|0.002000	0.10522|0.10522	0.152000|0.152000	0.21847|0.21847	0.252000|0.252000	0.18278|0.18278	0.167000|0.167000	0.19631|0.19631	0.655000|0.655000	0.94253|0.94253	CCC|CCT	.		0.642	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	53071652	53071652	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:53071652G>C	ENST00000276480.7	-	15	2295	c.1612C>G	c.(1612-1614)Cca>Gca	p.P538A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	538					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AATTTCACTGGATTTGGAAAA	0.413																																					p.P538A		.											.	ST18-95	0			c.C1612G						.						75.0	82.0	80.0					8																	53071652		2203	4300	6503	SO:0001583	missense	9705	exon15			TCACTGGATTTGG	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1612C>G	8.37:g.53071652G>C	ENSP00000276480:p.Pro538Ala	24	0		34	17	NM_014682	0	0	0	0	0	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549574	0.27652	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.43294	0.95;0.95	6.07	3.25	0.37280	Myelin transcription factor 1 (1);	0.152863	0.64402	N	0.000013	T	0.42675	0.1213	M	0.76002	2.32	0.54753	D	0.999982	B;B	0.23442	0.085;0.044	B;B	0.26693	0.072;0.062	T	0.22521	-1.0214	10	0.29301	T	0.29	-1.103	11.3036	0.49320	0.0639:0.2397:0.6964:0.0	.	538;538	E5RHS3;O60284	.;ST18_HUMAN	A	538	ENSP00000276480:P538A;ENSP00000428521:P538A	ENSP00000276480:P538A	P	-	1	0	ST18	53234205	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.935000	0.48963	0.417000	0.25871	0.650000	0.86243	CCA	.		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
HEY1	23462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	80677603	80677603	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:80677603G>A	ENST00000354724.3	-	5	934	c.735C>T	c.(733-735)acC>acT	p.T245T	HEY1_ENST00000337919.5_Silent_p.T249T|HEY1_ENST00000523976.1_Silent_p.T155T|HEY1_ENST00000435063.2_5'UTR|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	245					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TGGAGGCGGAGGTGACCACAG	0.667			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T249T		.		Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	.	HEY1-658	0			c.C747T						.						20.0	16.0	17.0					8																	80677603		2185	4270	6455	SO:0001819	synonymous_variant	23462	exon5			GGCGGAGGTGACC	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.735C>T	8.37:g.80677603G>A		115	0	1200	283	30	NM_001040708	0	0	3	3	0	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																			.		0.667	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258	
MTDH	92140	hgsc.bcm.edu	37	8	98656966	98656966	+	Missense_Mutation	SNP	G	G	T	rs17854373	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:98656966G>T	ENST00000336273.3	+	1	560	c.232G>T	c.(232-234)Gcc>Tcc	p.A78S	MTDH_ENST00000519934.1_Missense_Mutation_p.A55S	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	78	Interaction with BCCIP.			A -> S (in Ref. 5; AAH09324/AAH45642). {ECO:0000305}.	lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTGCGCCGGCGCCCGCAAAAA	0.736													G|||	124	0.0247604	0.0008	0.0274	5008	,	,		8475	0.0		0.0547	False		,,,				2504	0.0501				p.A78S		.											.	MTDH-91	0			c.G232T						.	G	SER/ALA	42,4076		0,42,2017	6.0	9.0	8.0		232	5.5	1.0	8	dbSNP_123	8	401,7773		7,387,3693	no	missense	MTDH	NM_178812.3	99	7,429,5710	TT,TG,GG		4.9058,1.0199,3.604	probably-damaging	78/583	98656966	443,11849	2059	4087	6146	SO:0001583	missense	92140	exon1			GCCGGCGCCCGCA	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.232G>T	8.37:g.98656966G>T	ENSP00000338235:p.Ala78Ser	1	0		12	4	NM_178812	0	0	1	1	0	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	55	0.025183150183150184	0	0.0	13	0.03591160220994475	0	0.0	42	0.055408970976253295	G	25.7	4.660641	0.88154	0.010199	0.049058	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.10382	2.88;2.88	5.48	5.48	0.80851	.	0.401308	0.24100	N	0.041542	T	0.02193	0.0068	L	0.34521	1.04	0.41950	D	0.990659	D	0.65815	0.995	P	0.61397	0.888	T	0.00621	-1.1640	10	0.39692	T	0.17	-4.8235	17.1332	0.86732	0.0:0.0:1.0:0.0	rs17854373	78	Q86UE4	LYRIC_HUMAN	S	78;55	ENSP00000338235:A78S;ENSP00000428168:A55S	ENSP00000338235:A78S	A	+	1	0	MTDH	98726142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.476000	0.53143	2.567000	0.86603	0.591000	0.81541	GCC	G|0.973;T|0.027		0.736	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
ZFPM2	23414	broad.mit.edu;bcgsc.ca	37	8	106813740	106813740	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:106813740C>A	ENST00000407775.2	+	8	1680	c.1430C>A	c.(1429-1431)cCa>cAa	p.P477Q	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P345Q|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P208Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P345Q|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	477					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)			CCCTCTAGCCCAAGACTTGCC	0.448																																					p.P477Q		.											.	ZFPM2-139	0			c.C1430A						.						95.0	99.0	98.0					8																	106813740		1871	4096	5967	SO:0001583	missense	23414	exon8			CTAGCCCAAGACT	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	ENST00000407775.2:c.1430C>A	8.37:g.106813740C>A	ENSP00000384179:p.Pro477Gln	52	2		53	38	NM_012082	0	0	0	0	0	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180604	0.78677	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.36699	1.24;1.78;1.78;3.0	5.97	5.97	0.96955	.	0.048111	0.85682	D	0.000000	T	0.59321	0.2185	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56786	-0.7921	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	477	Q8WW38	FOG2_HUMAN	Q	477;345;345;208	ENSP00000384179:P477Q;ENSP00000430757:P345Q;ENSP00000428720:P345Q;ENSP00000367733:P208Q	ENSP00000367733:P208Q	P	+	2	0	ZFPM2	106882916	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CCA	.		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	114449052	114449052	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:114449052G>T	ENST00000297405.5	-	1	276	c.32C>A	c.(31-33)gCa>gAa	p.A11E	CSMD3_ENST00000352409.3_Missense_Mutation_p.A11E|CSMD3_ENST00000455883.2_Missense_Mutation_p.A11E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						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						GGATTCCTTTGCTCGGCTTTC	0.517										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A11E		.											.	CSMD3-1132	0			c.C32A						.						102.0	109.0	107.0					8																	114449052		2203	4300	6503	SO:0001583	missense	114788	exon1			TCCTTTGCTCGGC	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.32C>A	8.37:g.114449052G>T	ENSP00000297405:p.Ala11Glu	43	0	1458	44	32	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109793	0.37242	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.05;1.71;2.04	5.77	4.91	0.64330	.	0.000000	0.38111	U	0.001803	T	0.29749	0.0743	N	0.08118	0	0.35002	D	0.756033	P;P;D;P	0.76494	0.728;0.852;0.999;0.608	P;B;D;B	0.67548	0.503;0.407;0.952;0.306	T	0.52003	-0.8633	10	0.72032	D	0.01	.	14.1372	0.65295	0.072:0.0:0.928:0.0	.	11;11;11;11	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	E	11	ENSP00000297405:A11E;ENSP00000412263:A11E;ENSP00000343124:A11E	ENSP00000297405:A11E	A	-	2	0	CSMD3	114518228	1.000000	0.71417	0.817000	0.32601	0.570000	0.35934	4.005000	0.57075	1.451000	0.47736	-0.137000	0.14449	GCA	.		0.517	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
THEM6	51337	hgsc.bcm.edu	37	8	143809193	143809193	+	Silent	SNP	C	C	T	rs2257840	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:143809193C>T	ENST00000336138.3	+	1	573	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CTD-2292P10.2_ENST00000519782.1_RNA|CTD-2292P10.4_ENST00000520572.1_RNA	NM_016647.2	NP_057731.1	Q8WUY1	THEM6_HUMAN	thioesterase superfamily member 6	143						extracellular region (GO:0005576)											TGCGGGACGGCTTCGTGTGCG	0.736													C|||	2369	0.473043	0.584	0.4496	5008	,	,		13930	0.4196		0.4722	False		,,,				2504	0.3957				p.G143G		.											.	.	0			c.C429T						.	C		1812,1920		513,786,567	3.0	3.0	3.0		429	2.5	1.0	8	dbSNP_100	3	2967,4315		724,1519,1398	no	coding-synonymous	C8orf55	NM_016647.2		1237,2305,1965	TT,TC,CC		40.7443,48.5531,43.3902		143/209	143809193	4779,6235	1866	3641	5507	SO:0001819	synonymous_variant	51337	exon1			GGACGGCTTCGTG	BC001311	CCDS6386.1	8q24.3	2012-05-03	2012-04-13	2012-04-13	ENSG00000130193	ENSG00000130193			29656	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 55"""	C8orf55		12477932	Standard	XM_005250955		Approved	DSCD75	uc003yww.1	Q8WUY1	OTTHUMG00000164673	ENST00000336138.3:c.429C>T	8.37:g.143809193C>T		0	0		5	5	NM_016647	0	0	0	17	17	B2RDN6|Q8NBN2|Q9NYI2	Silent	SNP	ENST00000336138.3	37	CCDS6386.1																																																																																			C|0.534;T|0.466		0.736	THEM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379706.1	NM_016647	
CYP11B2	1585	ucsc.edu	37	8	143994279	143994279	+	Silent	SNP	A	A	G	rs61757295	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:143994279A>G	ENST00000323110.2	-	7	1146	c.1144T>C	c.(1144-1146)Ttg>Ctg	p.L382L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ACTCGCTCCAAAAACAGACCC	0.597									Familial Hyperaldosteronism type I				.|||	200	0.0399361	0.0416	0.0288	5008	,	,		15944	0.0546		0.0089	False		,,,				2504	0.0624				p.L382L		.											.	CYP11B2-90	0			c.T1144C						.						68.0	66.0	66.0					8																	143994279		2202	4300	6502	SO:0001819	synonymous_variant	1585	exon7	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	GCTCCAAAAACAG	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1144T>C	8.37:g.143994279A>G		128	10		354	89	NM_000498	0	0	0	0	0	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																			A|0.992;G|0.008		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5.0	5.0	5.0		1023	-0.3	0.0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		0	0		9	8	NM_030895	0	0	0	1	1	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
MROH6	642475	hgsc.bcm.edu	37	8	144649601	144649601	+	Silent	SNP	A	A	G	rs13268196	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144649601A>G	ENST00000398882.3	-	14	2224	c.1968T>C	c.(1966-1968)gcT>gcC	p.A656A	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	656																	CCGCGGCCACAGCCGGCTTGG	0.776													G|||	4732	0.944888	0.8018	0.9827	5008	,	,		8608	1.0		0.998	False		,,,				2504	1.0				p.A656A		.											.	.	0			c.T1968C						.						1.0	2.0	2.0					8																	144649601		1007	2126	3133	SO:0001819	synonymous_variant	642475	exon14			GGCCACAGCCGGC	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1968T>C	8.37:g.144649601A>G		0	0		4	4	NM_001100878	0	0	0	3	3	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			A|0.057;G|0.943		0.776	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
MROH6	642475	hgsc.bcm.edu	37	8	144649625	144649625	+	Silent	SNP	T	T	C	rs10097556	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:144649625T>C	ENST00000398882.3	-	14	2200	c.1944A>G	c.(1942-1944)cgA>cgG	p.R648R	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	648																	CGCTCTGCAGTCGCCCTAGGT	0.771													C|||	4736	0.945687	0.8041	0.9841	5008	,	,		9094	1.0		0.998	False		,,,				2504	1.0				p.R648R		.											.	.	0			c.A1944G						.						2.0	3.0	2.0					8																	144649625		1227	2564	3791	SO:0001819	synonymous_variant	642475	exon14			CTGCAGTCGCCCT	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1944A>G	8.37:g.144649625T>C		0	0		13	13	NM_001100878	0	0	0	0	0	A8MWB1	Silent	SNP	ENST00000398882.3	37	CCDS47928.1																																																																																			T|0.058;C|0.942		0.771	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
LRRC24	441381	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	145747994	145747994	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:145747994C>T	ENST00000529415.2	-	5	1524	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.E466E|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	469						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACGAACATCTCGTGGCCGC	0.716																																					p.E469E		.											.	LRRC24-90	0			c.G1407A						.						13.0	14.0	14.0					8																	145747994		2168	4274	6442	SO:0001819	synonymous_variant	441381	exon5			GAACATCTCGTGG	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1407G>A	8.37:g.145747994C>T		66	0		301	57	NM_001024678	0	0	13	16	3		Silent	SNP	ENST00000529415.2	37	CCDS34969.1																																																																																			.		0.716	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {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)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		10	9	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
SLC1A1	6505	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	4573909	4573909	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:4573909A>T	ENST00000262352.3	+	8	1006	c.770A>T	c.(769-771)tAt>tTt	p.Y257F		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	257					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CTTTCCAGTTATATGCCACTA	0.493																																					p.Y257F		.											.	SLC1A1-514	0			c.A770T						.						223.0	224.0	224.0					9																	4573909		2203	4300	6503	SO:0001583	missense	6505	exon8			CCAGTTATATGCC		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.770A>T	9.37:g.4573909A>T	ENSP00000262352:p.Tyr257Phe	104	0		137	21	NM_004170	0	0	0	0	0	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.25|17.25	3.341512|3.341512	0.61073|0.61073	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000422398|ENST00000262352	.|T	.|0.57273	.|0.41	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.056394	.|0.64402	.|D	.|0.000001	T|T	0.60405|0.60405	0.2266|0.2266	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	.|B	.|0.25486	.|0.127	.|B	.|0.42771	.|0.397	T|T	0.62416|0.62416	-0.6859|-0.6859	5|10	.|0.62326	.|D	.|0.03	.|.	15.7798|15.7798	0.78252|0.78252	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|257	.|P43005	.|EAA3_HUMAN	F|F	19|257	.|ENSP00000262352:Y257F	.|ENSP00000262352:Y257F	L|Y	+|+	3|2	2|0	SLC1A1|SLC1A1	4563909|4563909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.675000|0.675000	0.39556|0.39556	7.439000|7.439000	0.80444|0.80444	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	TTA|TAT	.		0.493	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1		
CNTLN	54875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	17462995	17462995	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:17462995A>T	ENST00000380647.3	+	20	3472	c.3388A>T	c.(3388-3390)Aag>Tag	p.K1130*	CNTLN_ENST00000425824.1_Nonsense_Mutation_p.K1130*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.K1130*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1130					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAACACATAAAGGAAATGCA	0.338																																					p.K1130X		.											.	CNTLN-91	0			c.A3388T						.						82.0	83.0	82.0					9																	17462995		1827	4074	5901	SO:0001587	stop_gained	54875	exon20			CACATAAAGGAAA	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3388A>T	9.37:g.17462995A>T	ENSP00000370021:p.Lys1130*	283	0		335	104	NM_017738	0	0	4	4	0	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	39	7.569779	0.98365	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	5.13	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0274	0.42079	0.5695:0.4305:0.0:0.0	.	.	.	.	X	1130	.	ENSP00000262360:K1130X	K	+	1	0	CNTLN	17452995	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.613000	0.46351	1.926000	0.55796	0.533000	0.62120	AAG	.		0.338	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18776919	18776919	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:18776919C>T	ENST00000380548.4	+	19	3031	c.2692C>T	c.(2692-2694)Cgc>Tgc	p.R898C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	898	Ig-like C2-type 1.					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)		GGTGGTGCTGCGCTGCCCGGC	0.677																																					p.R898C		.											.	ADAMTSL1-230	0			c.C2692T						.						22.0	28.0	26.0					9																	18776919		2056	4184	6240	SO:0001583	missense	92949	exon19			GTGCTGCGCTGCC	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.2692C>T	9.37:g.18776919C>T	ENSP00000369921:p.Arg898Cys	5	0		139	47	NM_001040272	0	0	0	0	0	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723755	0.48728	.	.	ENSG00000178031	ENST00000380548	T	0.13307	2.6	5.48	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.311612	0.12568	U	0.457547	T	0.18635	0.0447	M	0.75777	2.31	0.80722	D	1	B	0.32800	0.385	B	0.29353	0.101	T	0.05852	-1.0860	10	0.87932	D	0	.	11.8564	0.52439	0.1308:0.7986:0.0:0.0706	.	898	Q8N6G6	ATL1_HUMAN	C	898	ENSP00000369921:R898C	ENSP00000369921:R898C	R	+	1	0	ADAMTSL1	18766919	1.000000	0.71417	0.953000	0.39169	0.172000	0.22775	3.623000	0.54224	1.313000	0.45069	-0.251000	0.11542	CGC	.		0.677	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
DENND4C	55667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	19300261	19300261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:19300261G>T	ENST00000380432.2	+	5	568	c.535G>T	c.(535-537)Gag>Tag	p.E179*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E415*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E415*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	179	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTTTTACTTGAGAGTAAAAT	0.398																																					p.E415X		.											.	DENND4C-92	0			c.G1243T						.						182.0	160.0	167.0					9																	19300261		2203	4300	6503	SO:0001587	stop_gained	55667	exon9			TTACTTGAGAGTA	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.535G>T	9.37:g.19300261G>T	ENSP00000369797:p.Glu179*	70	0		80	31	NM_017925	0	0	0	0	0	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.437704	0.97568	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1227	18.7218	0.91698	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000369802:E179X	E	+	1	0	DENND4C	19290261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.730000	0.93505	0.484000	0.47621	GAG	.		0.398	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
ELAVL2	1993	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	23701604	23701604	+	Splice_Site	SNP	T	T	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:23701604T>A	ENST00000397312.2	-	5	762		c.e5-2		ELAVL2_ENST00000380117.1_Splice_Site|ELAVL2_ENST00000223951.6_Splice_Site|ELAVL2_ENST00000544538.1_Splice_Site|ELAVL2_ENST00000380110.4_Splice_Site	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTGATATGCCTATGGTAGATT	0.428																																					.		.											.	ELAVL2-516	0			c.488-2A>T						.						103.0	106.0	105.0					9																	23701604		2203	4300	6503	SO:0001630	splice_region_variant	1993	exon6			TATGCCTATGGTA	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.488-2A>T	9.37:g.23701604T>A		103	1		99	41	NM_004432	0	0	0	0	0	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168967	0.78339	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281;ENST00000440102	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1096	0.81250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAVL2	23691604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.678000	0.84035	2.200000	0.70718	0.460000	0.39030	.	.		0.428	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Intron
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:25678122G>C	ENST00000358022.3	-	1	734	c.198C>G	c.(196-198)gcC>gcG	p.A66A		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	66										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCGCCAGGTCGGCAAACCGCT	0.776													G|||	885	0.176717	0.1324	0.1772	5008	,	,		7019	0.1151		0.3002	False		,,,				2504	0.1728				p.A66A	Pancreas(19;648 672 25630 30820 31331)	.											.	TUSC1-90	0			c.C198G						.	G		389,3633		24,341,1646	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	198	0.6	1.0	9	dbSNP_130	6	1826,6086		225,1376,2355	no	coding-synonymous	TUSC1	NM_001004125.2		249,1717,4001	CC,CG,GG		23.0789,9.6718,18.5604		66/213	25678122	2215,9719	2011	3956	5967	SO:0001819	synonymous_variant	286319	exon1			CAGGTCGGCAAAC	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.198C>G	9.37:g.25678122G>C		2	0		31	11	NM_001004125	0	0	0	0	0	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																			G|0.807;C|0.193		0.776	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125	
UNC13B	10497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35366986	35366986	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:35366986G>A	ENST00000378495.3	+	11	1432	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E416K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E404K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	404					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGGCTCCCGGAAGGGTAAGT	0.448																																					p.E404K		.											.	UNC13B-157	0			c.G1210A						.						118.0	109.0	112.0					9																	35366986		2203	4300	6503	SO:0001583	missense	10497	exon11			CTCCCGGAAGGGT	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1210G>A	9.37:g.35366986G>A	ENSP00000367756:p.Glu404Lys	60	0		80	18	NM_006377	0	0	0	0	0	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038616	0.19669	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.83419	-1.6;-1.52;-1.72	5.87	4.01	0.46588	.	0.458357	0.24096	N	0.041589	T	0.63815	0.2543	N	0.08118	0	0.26629	N	0.972503	B;B	0.14012	0.009;0.008	B;B	0.16722	0.014;0.016	T	0.47586	-0.9106	10	0.10377	T	0.69	-11.5044	10.5973	0.45345	0.0702:0.1309:0.799:0.0	.	404;404	F8W8M9;O14795	.;UN13B_HUMAN	K	416;404;404	ENSP00000380006:E416K;ENSP00000367756:E404K;ENSP00000367757:E404K	ENSP00000367756:E404K	E	+	1	0	UNC13B	35356986	1.000000	0.71417	0.988000	0.46212	0.707000	0.40811	3.629000	0.54266	1.478000	0.48253	0.655000	0.94253	GAA	.		0.448	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
TPM2	7169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35684309	35684309	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:35684309C>T	ENST00000360958.2	-	8	810	c.706G>A	c.(706-708)Gag>Aag	p.E236K	TPM2_ENST00000378300.5_Missense_Mutation_p.E236K|TPM2_ENST00000378292.3_Missense_Mutation_p.E236K|TPM2_ENST00000329305.2_Missense_Mutation_p.E236K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	236					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCGGGTCTCAGCCTGGGGG	0.502																																					p.E236K		.											.	TPM2-515	0			c.G706A						.						56.0	53.0	54.0					9																	35684309		2203	4300	6503	SO:0001583	missense	7169	exon8			GGGTCTCAGCCTG		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.706G>A	9.37:g.35684309C>T	ENSP00000354219:p.Glu236Lys	98	0		116	35	NM_213674	0	0	0	0	0	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	36	5.638077	0.96693	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.0	5.0	0.66597	.	.	.	.	.	D	0.95284	0.8470	H	0.99273	4.495	0.58432	D	0.999994	D;P;D;D	0.67145	0.991;0.69;0.996;0.996	D;P;D;D	0.79784	0.978;0.68;0.99;0.993	D	0.97415	1.0005	9	0.87932	D	0	-7.4533	18.1084	0.89527	0.0:1.0:0.0:0.0	.	236;236;236;236	A7XZE4;P07951;Q5TCU8;P07951-2	.;TPM2_HUMAN;.;.	K	236	ENSP00000367550:E236K;ENSP00000367542:E236K;ENSP00000367541:E236K;ENSP00000354219:E236K	ENSP00000367541:E236K	E	-	1	0	TPM2	35674309	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	2.579000	0.87056	0.563000	0.77884	GAG	.		0.502	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289	
FRMPD1	22844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	37733737	37733737	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:37733737C>T	ENST00000539465.1	+	12	1726	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	FRMPD1_ENST00000541302.1_Missense_Mutation_p.S247F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S378F|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S200F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	378	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S378Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CAACTTATTTCTGCTGCCCAG	0.343																																					p.S378F		.											.	FRMPD1-159	1	Substitution - Missense(1)	large_intestine(1)	c.C1133T						.						138.0	139.0	139.0					9																	37733737		2203	4300	6503	SO:0001583	missense	22844	exon12			TTATTTCTGCTGC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1133C>T	9.37:g.37733737C>T	ENSP00000444411:p.Ser378Phe	34	0		27	11	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380748	0.82792	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.124913	0.56097	D	0.000032	D	0.87099	0.6093	M	0.65498	2.005	0.80722	D	1	P;P	0.46512	0.627;0.879	P;P	0.51742	0.678;0.557	D	0.88746	0.3247	10	0.87932	D	0	-14.7429	16.1394	0.81513	0.0:1.0:0.0:0.0	.	247;378	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	F	378;378;200;247	ENSP00000366995:S378F;ENSP00000444411:S378F;ENSP00000437762:S200F;ENSP00000444804:S247F	ENSP00000366995:S378F	S	+	2	0	FRMPD1	37723737	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.373000	0.52394	2.400000	0.81607	0.609000	0.83330	TCT	.		0.343	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
SPATA31A6	389730	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	43627291	43627291	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:43627291G>A	ENST00000332857.6	-	4	1424	c.1396C>T	c.(1396-1398)Ctt>Ttt	p.L466F	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	466					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCTGGAAAAGCAGTGGGGAC	0.517																																					p.L466F		.											.	.	0			c.C1396T						.						69.0	85.0	80.0					9																	43627291		615	1534	2149	SO:0001583	missense	389730	exon4			GGAAAAGCAGTGG		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1396C>T	9.37:g.43627291G>A	ENSP00000329825:p.Leu466Phe	14	0		27	19	NM_001145196	0	0	0	0	0		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163857	0.09287	.	.	ENSG00000185775	ENST00000332857	T	0.11277	2.79	2.03	-0.44	0.12261	.	0.761715	0.11636	N	0.544300	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	P	0.40602	0.723	B	0.43052	0.406	T	0.26815	-1.0092	10	0.31617	T	0.26	-7.7731	4.5081	0.11898	0.46:0.0:0.54:0.0	.	466	Q5VVP1	F75A6_HUMAN	F	466	ENSP00000329825:L466F	ENSP00000329825:L466F	L	-	1	0	FAM75A6	43567287	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.021000	0.13489	-0.107000	0.12088	-0.515000	0.04445	CTT	.		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
APBA1	320	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	9	72132096	72132096	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:72132096C>G	ENST00000265381.4	-	2	253	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	11					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGTCACCTCCACCTCCGCA	0.662																																					p.E11Q		.											.	APBA1-91	0			c.G31C						.						14.0	10.0	11.0					9																	72132096		2183	4283	6466	SO:0001583	missense	320	exon2			TCACCTCCACCTC	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.31G>C	9.37:g.72132096C>G	ENSP00000265381:p.Glu11Gln	10	0		41	16	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356132	0.41700	.	.	ENSG00000107282	ENST00000265381	T	0.06218	3.33	5.19	5.19	0.71726	.	0.067765	0.56097	D	0.000024	T	0.06962	0.0177	N	0.24115	0.695	0.41847	D	0.990158	B	0.11235	0.004	B	0.09377	0.004	T	0.29882	-0.9997	10	0.72032	D	0.01	.	18.7323	0.91739	0.0:1.0:0.0:0.0	.	11	Q02410	APBA1_HUMAN	Q	11	ENSP00000265381:E11Q	ENSP00000265381:E11Q	E	-	1	0	APBA1	71321916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.914000	0.48797	2.437000	0.82529	0.655000	0.94253	GAG	.		0.662	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
MURC	347273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	103348271	103348271	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:103348271G>A	ENST00000307584.5	+	2	698	c.633G>A	c.(631-633)cgG>cgA	p.R211R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	211					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGAAGACACGGCAGAATCTTG	0.453																																					p.R211R		.											.	MURC-69	0			c.G633A						.						102.0	107.0	105.0					9																	103348271		2203	4300	6503	SO:0001819	synonymous_variant	347273	exon2			GACACGGCAGAAT	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.633G>A	9.37:g.103348271G>A		94	0		128	26	NM_001018116	0	0	0	0	0	B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	CCDS35083.1																																																																																			.		0.453	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
OR13C3	138803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107298061	107298061	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:107298061G>T	ENST00000374781.2	-	1	1076	c.1034C>A	c.(1033-1035)cCa>cAa	p.P345Q		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	345						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(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTAGTGAATTGGTTTTTTGTT	0.373																																					p.P345Q	GBM(86;1248 1274 14222 15028 46219)	.											.	OR13C3-69	0			c.C1034A						.						123.0	110.0	115.0					9																	107298061		2202	4300	6502	SO:0001583	missense	138803	exon1			TGAATTGGTTTTT		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.1034C>A	9.37:g.107298061G>T	ENSP00000363913:p.Pro345Gln	83	0		103	29	NM_001001961	0	0	0	0	0	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146181	0.21288	.	.	ENSG00000204246	ENST00000374781	T	0.08282	3.11	4.69	-0.64	0.11493	.	1.022170	0.07836	N	0.962220	T	0.04092	0.0114	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45571	-0.9252	10	0.29301	T	0.29	.	2.5127	0.04660	0.1734:0.4096:0.2677:0.1493	.	345	Q8NGS6	O13C3_HUMAN	Q	345	ENSP00000363913:P345Q	ENSP00000363913:P345Q	P	-	2	0	OR13C3	106337882	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.362000	0.07602	-0.003000	0.14444	0.650000	0.86243	CCA	.		0.373	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
OR13D1	286365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	107457687	107457687	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:107457687G>T	ENST00000318763.5	+	1	1028	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GAATAAAGAGGTCAAAGAGGC	0.413																																					p.V329F		.											.	OR13D1-70	0			c.G985T						.						76.0	78.0	78.0					9																	107457687		2203	4300	6503	SO:0001583	missense	286365	exon1			AAAGAGGTCAAAG		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.985G>T	9.37:g.107457687G>T	ENSP00000317357:p.Val329Phe	43	0		71	20	NM_001004484	0	0	0	0	0	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855777	0.32791	.	.	ENSG00000179055	ENST00000318763	T	0.29917	1.55	3.87	3.87	0.44632	.	0.000000	0.41001	D	0.000973	T	0.48642	0.1511	L	0.58810	1.83	0.40882	D	0.984004	D	0.89917	1.0	D	0.77004	0.989	T	0.52734	-0.8536	10	0.87932	D	0	.	11.1788	0.48616	0.0:0.0:1.0:0.0	.	329	Q8NGV5	O13D1_HUMAN	F	329	ENSP00000317357:V329F	ENSP00000317357:V329F	V	+	1	0	OR13D1	106497508	0.131000	0.22433	0.200000	0.23457	0.087000	0.18053	0.004000	0.13106	1.979000	0.57680	0.511000	0.50034	GTC	.		0.413	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1		
IKBKAP	8518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	111679945	111679945	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:111679945G>A	ENST00000374647.5	-	9	1053	c.746C>T	c.(745-747)tCa>tTa	p.S249L	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	249					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAAACTGCCTGAGGGTCTTAA	0.373																																					p.S249L		.											.	IKBKAP-318	0			c.C746T						.						154.0	157.0	156.0					9																	111679945		2203	4300	6503	SO:0001583	missense	8518	exon9			CTGCCTGAGGGTC	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.746C>T	9.37:g.111679945G>A	ENSP00000363779:p.Ser249Leu	88	0		92	46	NM_003640	0	0	0	0	0	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717069	0.89205	.	.	ENSG00000070061	ENST00000374647	T	0.06068	3.35	5.29	5.29	0.74685	Six-bladed beta-propeller, TolB-like (1);	0.058356	0.64402	D	0.000001	T	0.28896	0.0717	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.02713	-1.1120	10	0.87932	D	0	-2.7214	16.7869	0.85576	0.0:0.0:1.0:0.0	.	249	O95163	ELP1_HUMAN	L	249	ENSP00000363779:S249L	ENSP00000363779:S249L	S	-	2	0	IKBKAP	110719766	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.168000	0.94781	2.642000	0.89623	0.561000	0.74099	TCA	.		0.373	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
AKAP2	11217	hgsc.bcm.edu	37	9	112811038	112811038	+	Missense_Mutation	SNP	C	C	T	rs78923754	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:112811038C>T	ENST00000374525.1	+	1	63	c.59C>T	c.(58-60)cCg>cTg	p.P20L	AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.P20L	NM_001004065.4	NP_001004065.2	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	374										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCTGGACCCCCGGAGTCTCCT	0.776													-|||	379	0.0756789	0.0703	0.0879	5008	,	,		9335	0.0298		0.0954	False		,,,				2504	0.1012				p.P20L		.											.	AKAP2-24	0			c.C59T						.	C	LEU/PRO,LEU/PRO,,	146,2418		2,142,1138	2.0	3.0	2.0		59,59,,	0.3	0.0	9	dbSNP_132	2	557,5611		13,531,2540	no	missense,missense,intron,intron	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001198656.1,NM_007203.4,NM_147150.2	98,98,,	15,673,3678	TT,TC,CC		9.0305,5.6942,8.0508	,,,	20/949,20/962,,	112811038	703,8029	1282	3084	4366	SO:0001583	missense	11217	exon1			GACCCCCGGAGTC	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000374525.1:c.59C>T	9.37:g.112811038C>T	ENSP00000363649:p.Pro20Leu	0	0		9	7	NM_001004065	0	0	0	0	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000374525.1	37	CCDS43861.1	184	0.08424908424908426	48	0.0975609756097561	42	0.11602209944751381	16	0.027972027972027972	78	0.10290237467018469	-	6.449	0.450901	0.12223	0.056942	0.090305	ENSG00000241978	ENST00000434623;ENST00000374525	T;T	0.44482	1.5;0.92	3.3	0.302	0.15786	.	.	.	.	.	T	0.00412	0.0013	.	.	.	0.58432	P	5.000000000032756E-6	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	7	0.72032	D	0.01	-9.3294	7.3755	0.26825	0.0:0.6472:0.0:0.3528	.	20;21	Q9Y2D5-7;B1ALY1	.;.	L	20	ENSP00000404782:P20L;ENSP00000363649:P20L	ENSP00000363649:P20L	P	+	2	0	AKAP2	111850859	0.208000	0.23494	0.001000	0.08648	0.000000	0.00434	0.026000	0.13599	-0.068000	0.12953	-1.980000	0.00456	CCG	C|0.917;T|0.083		0.776	AKAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053609.3	NM_001004065	
KIAA1958	158405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	115336645	115336645	+	Silent	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:115336645G>A	ENST00000337530.6	+	2	581	c.285G>A	c.(283-285)caG>caA	p.Q95Q	KIAA1958_ENST00000374244.3_Silent_p.Q95Q|KIAA1958_ENST00000536272.1_Silent_p.Q95Q	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	95										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTGAGACACAGACTAGCCCTG	0.502																																					p.Q95Q		.											.	KIAA1958-91	0			c.G285A						.						79.0	78.0	79.0					9																	115336645		2203	4300	6503	SO:0001819	synonymous_variant	158405	exon2			GACACAGACTAGC	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.285G>A	9.37:g.115336645G>A		141	0		176	67	NM_133465	0	0	0	0	0	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	CCDS35108.1																																																																																			.		0.502	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465	
TLR4	7099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	120475158	120475158	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:120475158C>A	ENST00000355622.6	+	3	853	c.752C>A	c.(751-753)gCt>gAt	p.A251D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A211D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	251					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|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 JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|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 nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CAAGGTCTGGCTGGTTTAGAA	0.358																																					p.A251D		.											.	TLR4-577	0			c.C752A						.						69.0	77.0	74.0					9																	120475158		2194	4297	6491	SO:0001583	missense	7099	exon3			GTCTGGCTGGTTT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.752C>A	9.37:g.120475158C>A	ENSP00000363089:p.Ala251Asp	35	0		28	13	NM_138554	0	0	0	0	0	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334129	0.41297	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38401	1.44;1.14	5.71	4.8	0.61643	.	0.348665	0.27936	N	0.017257	T	0.39036	0.1063	M	0.63843	1.955	0.45227	D	0.99823	B	0.29646	0.253	B	0.26614	0.071	T	0.29488	-1.0010	10	0.54805	T	0.06	.	16.8781	0.86057	0.0:0.8719:0.1281:0.0	.	251	O00206	TLR4_HUMAN	D	211;251	ENSP00000377997:A211D;ENSP00000363089:A251D	ENSP00000363089:A251D	A	+	2	0	TLR4	119514979	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.198000	0.42705	1.385000	0.46445	0.609000	0.83330	GCT	.		0.358	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
LHX6	26468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	124979518	124979518	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:124979518C>A	ENST00000373755.2	-	4	532	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	LHX6_ENST00000394319.4_Missense_Mutation_p.D171Y|LHX6_ENST00000340587.3_Missense_Mutation_p.D171Y|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Missense_Mutation_p.D142Y|LHX6_ENST00000541397.2_Missense_Mutation_p.D160Y	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	142	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGCACCCAGTCGCTGGCGTAG	0.662																																					p.D171Y		.											.	LHX6-90	0			c.G511T						.						46.0	46.0	46.0					9																	124979518		2203	4300	6503	SO:0001583	missense	26468	exon5			CCCAGTCGCTGGC	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.424G>T	9.37:g.124979518C>A	ENSP00000362860:p.Asp142Tyr	51	0		163	19	NM_014368	0	0	0	0	0	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424542	0.96111	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.87	5.87	0.94306	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.94839	0.8003	10	0.87932	D	0	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	142;171;171	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	Y	142;142;171;171;160	ENSP00000362860:D142Y;ENSP00000362859:D142Y;ENSP00000377854:D171Y;ENSP00000340137:D171Y;ENSP00000441464:D160Y	ENSP00000340137:D171Y	D	-	1	0	LHX6	124019339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.781000	0.95711	0.655000	0.94253	GAC	.		0.662	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	
OR1J4	26219	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	125281773	125281773	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:125281773G>T	ENST00000340750.1	+	1	354	c.354G>T	c.(352-354)atG>atT	p.M118I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCACTTCAATGGCATACGATC	0.428																																					p.M118I		.											.	OR1J4-90	0			c.G354T						.						187.0	159.0	169.0					9																	125281773		2203	4300	6503	SO:0001583	missense	26219	exon1			TTCAATGGCATAC	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.354G>T	9.37:g.125281773G>T	ENSP00000343521:p.Met118Ile	125	1		161	63	NM_001004452	0	0	0	0	0	A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975644	0.53720	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.01126	5.3	5.54	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000767	T	0.09423	0.0232	H	0.96111	3.77	0.44188	D	0.997002	D	0.64830	0.994	P	0.58454	0.839	T	0.02075	-1.1218	10	0.66056	D	0.02	.	13.6448	0.62275	0.0752:0.0:0.9248:0.0	.	118	Q8NGS1	OR1J4_HUMAN	I	284;118	ENSP00000343521:M118I	ENSP00000407987:M284I	M	+	3	0	OR1J2;OR1J4	124321594	1.000000	0.71417	0.996000	0.52242	0.021000	0.10359	7.703000	0.84585	1.593000	0.50029	0.650000	0.86243	ATG	.		0.428	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1		
RC3H2	54542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125645584	125645584	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:125645584C>A	ENST00000373670.1	-	4	1258	c.658G>T	c.(658-660)Gta>Tta	p.V220L	RC3H2_ENST00000357244.2_Missense_Mutation_p.V220L|RC3H2_ENST00000335387.5_Missense_Mutation_p.V220L|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Missense_Mutation_p.V220L|RC3H2_ENST00000373665.2_Missense_Mutation_p.V220L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	220	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACAAAAAGTACCAGAACTTTC	0.393																																					p.V220L		.											.	RC3H2-523	0			c.G658T						.						170.0	160.0	163.0					9																	125645584		1878	4118	5996	SO:0001583	missense	54542	exon5			AAAGTACCAGAAC	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.658G>T	9.37:g.125645584C>A	ENSP00000362774:p.Val220Leu	132	0		138	49	NM_018835	0	0	0	2	2	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947017	0.92593	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.83692	2.655	0.80722	D	1	D;P;P	0.89917	1.0;0.841;0.902	D;P;D	0.85130	0.997;0.846;0.927	D	0.97789	1.0237	10	0.87932	D	0	-13.2662	19.112	0.93319	0.0:1.0:0.0:0.0	.	220;220;220	A6NHN2;Q9HBD1;Q9HBD1-4	.;RC3H2_HUMAN;.	L	220;220;91;220;220;220	ENSP00000362774:V220L;ENSP00000349783:V220L;ENSP00000411767:V220L;ENSP00000362769:V220L;ENSP00000335150:V220L	ENSP00000335150:V220L	V	-	1	0	RC3H2	124685405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.756000	0.94617	0.585000	0.79938	GTA	.		0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
DENND1A	57706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	126439003	126439003	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:126439003C>G	ENST00000373624.2	-	6	569	c.368G>C	c.(367-369)aGa>aCa	p.R123T	DENND1A_ENST00000394219.3_Missense_Mutation_p.R91T|DENND1A_ENST00000394215.2_Missense_Mutation_p.R93T|DENND1A_ENST00000373620.3_Missense_Mutation_p.R123T|DENND1A_ENST00000373618.1_Missense_Mutation_p.R91T|DENND1A_ENST00000473039.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	123	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATACCTGTCTTTTTGTCGT	0.303																																					p.R123T		.											.	DENND1A-92	0			c.G368C						.						71.0	72.0	72.0					9																	126439003		2203	4300	6503	SO:0001583	missense	57706	exon6			ACCTGTCTTTTTG	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.368G>C	9.37:g.126439003C>G	ENSP00000362727:p.Arg123Thr	33	0		36	16	NM_024820	0	0	0	0	0	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176613	0.21704	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	5.99	4.12	0.48240	DENN (3);	0.106591	0.64402	D	0.000004	T	0.07413	0.0187	N	0.20685	0.6	0.27496	N	0.952148	B;B;B;B;B	0.26147	0.016;0.013;0.143;0.033;0.008	B;B;B;B;B	0.31614	0.054;0.026;0.133;0.062;0.056	T	0.36553	-0.9743	10	0.15499	T	0.54	0.009	9.8722	0.41182	0.0:0.7881:0.0:0.2119	.	91;91;93;123;123	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	T	123;91;123;93;91	ENSP00000362727:R123T;ENSP00000377766:R91T;ENSP00000362722:R123T;ENSP00000377763:R93T;ENSP00000362720:R91T	ENSP00000362720:R91T	R	-	2	0	DENND1A	125478824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.248000	0.32827	0.827000	0.34685	0.655000	0.94253	AGA	.		0.303	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
PTGDS	5730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139874677	139874677	+	Missense_Mutation	SNP	C	C	A	rs558159287		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:139874677C>A	ENST00000371625.3	+	5	565	c.491C>A	c.(490-492)aCc>aAc	p.T164N	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Missense_Mutation_p.T198N	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	164					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAATTCACCGCCTTCTGC	0.612																																					p.T164N		.											.	PTGDS-91	0			c.C491A						.						69.0	67.0	68.0					9																	139874677		2203	4300	6503	SO:0001583	missense	5730	exon5			AATTCACCGCCTT	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.491C>A	9.37:g.139874677C>A	ENSP00000360687:p.Thr164Asn	122	0		157	48	NM_000954	0	0	2	2	0	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.30|11.30	1.597063|1.597063	0.28445|0.28445	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000446677|ENST00000224167;ENST00000371625	.|T;T	.|0.07800	.|3.16;3.16	5.07|5.07	-5.11|-5.11	0.02901|0.02901	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|1.386280	.|0.04401	.|N	.|0.364216	T|T	0.11793|0.11793	0.0287|0.0287	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P	.|0.45474	.|0.859	.|P	.|0.47044	.|0.535	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	0.3611|0.3611	8.1845|8.1845	0.31330|0.31330	0.0:0.1445:0.5696:0.2859|0.0:0.1445:0.5696:0.2859	.|.	.|164	.|P41222	.|PTGDS_HUMAN	Q|N	186|198;164	.|ENSP00000224167:T198N;ENSP00000360687:T164N	.|ENSP00000224167:T198N	H|T	+|+	3|2	2|0	PTGDS|PTGDS	138994498|138994498	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.288000|0.288000	0.27193|0.27193	-3.069000|-3.069000	0.00619|0.00619	-0.906000|-0.906000	0.03866|0.03866	0.651000|0.651000	0.88453|0.88453	CAC|ACC	.		0.612	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954	
NELFB	25920	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	140150001	140150001	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:140150001G>A	ENST00000343053.4	+	1	377	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	14					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGCCAACGGCGAGGACCTGAA	0.751																																					p.E14K		.											.	.	0			c.G40A						.						15.0	13.0	14.0					9																	140150001		2055	4035	6090	SO:0001583	missense	25920	exon1			AACGGCGAGGACC	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.40G>A	9.37:g.140150001G>A	ENSP00000339495:p.Glu14Lys	31	0		120	47	NM_015456	0	0	9	21	12	A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040090	0.75732	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.29	4.29	0.51040	.	0.117788	0.56097	D	0.000023	T	0.38108	0.1028	L	0.42245	1.32	0.58432	D	0.999995	P	0.43352	0.804	B	0.33454	0.164	T	0.25916	-1.0118	9	0.15952	T	0.53	-40.3426	13.5841	0.61919	0.0:0.0:1.0:0.0	.	14	Q8WX92	NELFB_HUMAN	K	14	.	ENSP00000339495:E14K	E	+	1	0	COBRA1	139269822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.290000	0.89925	2.207000	0.71202	0.561000	0.74099	GAG	.		0.751	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456	
PPP2R3B	28227	ucsc.edu;bcgsc.ca	37	X	299594	299594	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:299594C>T	ENST00000390665.3	-	11	1407	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	463					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACGTTAGCCAGCTTGCAGC	0.627																																					p.L463L		.											.	PPP2R3B-136	0			c.G1389A						.						207.0	198.0	201.0					X																	299594		2199	4289	6488	SO:0001819	synonymous_variant	28227	exon11			GTTAGCCAGCTTG	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1389G>A	X.37:g.299594C>T		341	2		401	228	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			.		0.627	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239	
ARSH	347527	bcgsc.ca	37	X	2945477	2945477	+	Missense_Mutation	SNP	C	C	T	rs61751925	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:2945477C>T	ENST00000381130.2	+	7	1160	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	387					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATCTATCCGACGCTGTCTTAT	0.493													C|||	143	0.0378808	0.0008	0.036	3775	,	,		13676	0.0089		0.0706	False		,,,				2504	0.0378				p.T387M		.											.	ARSH-130	0			c.C1160T						.	C	MET/THR	64,3771		0,51,13,1581,558	151.0	119.0	130.0		1160	3.4	0.0	X	dbSNP_129	130	650,6078		24,436,166,1968,1706	yes	missense	ARSH	NM_001011719.1	81	24,487,179,3549,2264	TT,TC,T,CC,C		9.6611,1.6688,6.7594	probably-damaging	387/563	2945477	714,9849	2203	4300	6503	SO:0001583	missense	347527	exon7			ATCCGACGCTGTC	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1160C>T	X.37:g.2945477C>T	ENSP00000370522:p.Thr387Met	116	0		123	5	NM_001011719	0	0	0	0	0		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	82	0.04942736588306208	2	0.0040650406504065045	14	0.03977272727272727	3	0.005263157894736842	40	0.055248618784530384	C	11.44	1.639794	0.29157	0.016688	0.096611	ENSG00000205667	ENST00000381130	D	0.99150	-5.49	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.90335	0.6976	H	0.99464	4.58	0.27978	P	0.9361375	D	0.89917	1.0	D	0.91635	0.999	T	0.68221	-0.5466	9	0.87932	D	0	.	14.2922	0.66286	0.0:1.0:0.0:0.0	rs61751925	387	Q5FYA8	ARSH_HUMAN	M	387	ENSP00000370522:T387M	ENSP00000370522:T387M	T	+	2	0	ARSH	2955477	0.999000	0.42202	0.004000	0.12327	0.010000	0.07245	4.677000	0.61634	1.328000	0.45358	0.596000	0.82720	ACG	C|0.940;T|0.060		0.493	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
FRMPD4	9758	broad.mit.edu	37	X	12734328	12734328	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:12734328G>A	ENST00000380682.1	+	15	2256	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	584					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGAGATCACAGACAGCACCAT	0.498																																					p.D584N		.											.	FRMPD4-263	0			c.G1750A						.						126.0	112.0	117.0					X																	12734328		2203	4300	6503	SO:0001583	missense	9758	exon15			ATCACAGACAGCA	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1750G>A	X.37:g.12734328G>A	ENSP00000370057:p.Asp584Asn	51	0		58	4	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732789	0.48939	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.25579	1.79	5.47	5.47	0.80525	.	0.450148	0.25450	N	0.030597	T	0.29850	0.0746	L	0.57536	1.79	0.31061	N	0.714081	B;B	0.13594	0.008;0.003	B;B	0.09377	0.004;0.002	T	0.14282	-1.0478	10	0.33141	T	0.24	.	18.4325	0.90632	0.0:0.0:1.0:0.0	.	576;584	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	584;575;573	ENSP00000370057:D584N	ENSP00000304583:D573N	D	+	1	0	FRMPD4	12644249	1.000000	0.71417	0.204000	0.23530	0.804000	0.45430	5.745000	0.68672	2.294000	0.77228	0.529000	0.55759	GAC	.		0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
CACNA1F	778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	49083514	49083514	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:49083514C>A	ENST00000376265.2	-	9	1255	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E398D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E333D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	398	Binding to the beta subunit. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGGTCTTCCTCCATCTGCT	0.587																																					p.E398D		.											.	CACNA1F-176	0			c.G1194T						.						58.0	40.0	46.0					X																	49083514		2203	4300	6503	SO:0001583	missense	778	exon9			GTCTTCCTCCATC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1194G>T	X.37:g.49083514C>A	ENSP00000365441:p.Glu398Asp	54	0		67	45	NM_001256789	0	0	0	0	0	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002365	0.35320	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.95482	-3.72;-3.72;-3.72	4.9	1.58	0.23477	.	0.321805	0.33199	N	0.005165	D	0.93612	0.7960	L	0.48218	1.51	0.37015	D	0.895907	D;P	0.54601	0.967;0.945	P;P	0.52066	0.689;0.492	D	0.90952	0.4806	10	0.35671	T	0.21	.	8.0444	0.30540	0.0:0.4531:0.0:0.5469	.	398;398	F5CIQ9;O60840	.;CAC1F_HUMAN	D	333;398;398	ENSP00000365427:E333D;ENSP00000321618:E398D;ENSP00000365441:E398D	ENSP00000321618:E398D	E	-	3	2	CACNA1F	48970458	0.998000	0.40836	0.997000	0.53966	0.697000	0.40408	0.719000	0.25881	0.179000	0.19938	0.279000	0.19357	GAG	.		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
KIAA2022	340533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	73962657	73962657	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:73962657C>A	ENST00000055682.6	-	3	2346	c.1735G>T	c.(1735-1737)Gcc>Tcc	p.A579S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	579					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCAGCTTGGCATATTTGTTG	0.443																																					p.A579S		.											.	KIAA2022-183	0			c.G1735T						.						121.0	100.0	107.0					X																	73962657		2203	4300	6503	SO:0001583	missense	340533	exon3			GCTTGGCATATTT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1735G>T	X.37:g.73962657C>A	ENSP00000055682:p.Ala579Ser	54	0		49	39	NM_001008537	0	0	0	0	0	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116278	0.06881	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29917	1.55;1.55	5.97	-0.434	0.12283	.	0.357745	0.30227	N	0.010107	T	0.15998	0.0385	N	0.22421	0.69	0.27791	N	0.942825	B	0.06786	0.001	B	0.06405	0.002	T	0.24261	-1.0165	10	0.19590	T	0.45	-0.249	8.2198	0.31534	0.557:0.2977:0.088:0.0572	.	579	Q5QGS0	K2022_HUMAN	S	579	ENSP00000362567:A579S;ENSP00000055682:A579S	ENSP00000055682:A579S	A	-	1	0	KIAA2022	73879382	0.996000	0.38824	0.702000	0.30337	0.793000	0.44817	1.088000	0.30877	-0.618000	0.05656	-0.205000	0.12727	GCC	.		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
CYLC1	1538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	83124906	83124906	+	Silent	SNP	C	C	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:83124906C>T	ENST00000329312.4	+	2	88	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	17					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGATAATTCCATTCCAAGTA	0.224																																					p.S17S		.											.	CYLC1-112	0			c.C51T						.						9.0	9.0	9.0					X																	83124906		1935	3914	5849	SO:0001819	synonymous_variant	1538	exon2			TAATTCCATTCCA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.51C>T	X.37:g.83124906C>T		89	0		67	37	NM_021118	0	0	0	0	0	A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																			.		0.224	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
CSTF2	1478	broad.mit.edu	37	X	100075447	100075447	+	Silent	SNP	T	T	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:100075447T>G	ENST00000372972.2	+	1	58	c.42T>G	c.(40-42)tcT>tcG	p.S14S	CSTF2_ENST00000415585.2_Silent_p.S14S|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	14					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGGATCGTTCTCTACGTTCTG	0.572																																					p.S14S		.											.	CSTF2-131	0			c.T42G						.						164.0	117.0	133.0					X																	100075447		2203	4300	6503	SO:0001819	synonymous_variant	1478	exon1			TCGTTCTCTACGT	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.42T>G	X.37:g.100075447T>G		105	0		182	4	NM_001325	0	0	7	7	0	Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	CCDS14473.1																																																																																			.		0.572	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325	
SEPT6	23157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	118774715	118774715	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:118774715C>G	ENST00000343984.5	-	6	991	c.727G>C	c.(727-729)Gaa>Caa	p.E243Q	SEPT6_ENST00000354228.4_Missense_Mutation_p.E243Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.E273Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.E243Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.E243Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.E243Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.E185Q|SEPT6_ENST00000394610.1_Missense_Mutation_p.E243Q	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	243	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						ATCTTCAGTTCTTCTGTGCTG	0.552			T	MLL	AML																																p.E243Q		.		Dom	yes		X	Xq24	23157	septin 6		L	.	SEPT6-969	0			c.G727C						.						186.0	127.0	147.0					X																	118774715		2203	4300	6503	SO:0001583	missense	23157	exon6			TCAGTTCTTCTGT	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.727G>C	X.37:g.118774715C>G	ENSP00000341524:p.Glu243Gln	51	0		79	61	NM_145802	0	0	3	6	3	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990150	0.93106	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.52526	1.38;1.38;1.38;1.38;1.38;1.38;0.66;1.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.81341	2.54	0.80722	D	1	D;P;D;D	0.76494	0.999;0.956;0.999;0.99	D;P;D;D	0.91635	0.998;0.906;0.999;0.936	T	0.74515	-0.3640	10	0.56958	D	0.05	.	17.527	0.87803	0.0:1.0:0.0:0.0	.	273;185;243;243	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	Q	243;243;243;243;243;243;185;273;243	ENSP00000353278:E243Q;ENSP00000346169:E243Q;ENSP00000418715:E243Q;ENSP00000346397:E243Q;ENSP00000378108:E243Q;ENSP00000341524:E243Q;ENSP00000378114:E185Q;ENSP00000378115:E273Q	ENSP00000341524:E243Q	E	-	1	0	SEPT6	118658743	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	7.487000	0.81328	2.354000	0.79902	0.594000	0.82650	GAA	.		0.552	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802	
GRIA3	2892	bcgsc.ca	37	X	122537277	122537277	+	Silent	SNP	T	T	C	rs502434	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:122537277T>C	ENST00000371251.1	+	9	1252	c.1200T>C	c.(1198-1200)aaT>aaC	p.N400N	GRIA3_ENST00000541091.1_Silent_p.N384N|GRIA3_ENST00000542149.1_Silent_p.N400N|GRIA3_ENST00000264357.5_Silent_p.N400N|GRIA3_ENST00000371256.5_Silent_p.N400N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	400					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GCTACTGGAATGAGTATGAAA	0.423													T|||	1997	0.529007	0.3003	0.4308	3775	,	,		13991	0.5208		0.4682	False		,,,				2504	0.3119				p.N400N		.											.	GRIA3-134	0			c.T1200C						.	T	,	1647,2188		290,803,264,539,307	210.0	194.0	199.0		1200,1200	2.2	1.0	X	dbSNP_83	199	4115,2613		895,1165,1160,368,712	no	coding-synonymous,coding-synonymous	GRIA3	NM_000828.4,NM_007325.4	,	1185,1968,1424,907,1019	CC,CT,C,TT,T		38.8377,42.9465,45.4511	,	400/895,400/895	122537277	5762,4801	2203	4300	6503	SO:0001819	synonymous_variant	2892	exon9			CTGGAATGAGTAT	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1200T>C	X.37:g.122537277T>C		59	0		112	5	NM_000828	0	0	0	0	0	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	CCDS14604.1																																																																																			T|0.362;0|0.004		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	
GPR112	139378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135431107	135431107	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:135431107G>A	ENST00000394143.1	+	6	5533	c.5242G>A	c.(5242-5244)Gaa>Aaa	p.E1748K	GPR112_ENST00000412101.1_Missense_Mutation_p.E1543K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1748K|GPR112_ENST00000287534.4_Missense_Mutation_p.E1685K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1543K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1748					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACTGTTCCTGAAAATATGCT	0.428																																					p.E1748K		.											.	GPR112-183	0			c.G5242A						.						151.0	136.0	141.0					X																	135431107		2203	4300	6503	SO:0001583	missense	139378	exon6			GTTCCTGAAAATA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5242G>A	X.37:g.135431107G>A	ENSP00000377699:p.Glu1748Lys	30	0		28	19	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	12.47	1.948456	0.34377	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27104	1.73;1.73;1.69;1.84;1.69	3.05	-0.225	0.13111	.	.	.	.	.	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B;B;B	0.19817	0.039;0.003;0.0	B;B;B	0.20184	0.028;0.005;0.002	T	0.36696	-0.9737	9	0.09590	T	0.72	.	3.0363	0.06123	0.3034:0.2309:0.4657:0.0	.	1685;1543;1748	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1748;1748;1543;1685;1543	ENSP00000377699:E1748K;ENSP00000359686:E1748K;ENSP00000416526:E1543K;ENSP00000287534:E1685K;ENSP00000377697:E1543K	ENSP00000287534:E1685K	E	+	1	0	GPR112	135258773	0.192000	0.23301	0.001000	0.08648	0.513000	0.34164	0.105000	0.15333	0.057000	0.16193	0.458000	0.33432	GAA	.		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
MIR506	574511	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	146312342	146312342	+	RNA	SNP	G	G	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:146312342G>T	ENST00000384998.1	-	0	19				MIR507_ENST00000385234.1_RNA	NR_030233.1				microRNA 506																		ACTACACATAGTATGGCTGAT	0.428																																					.		.											.	.	0			.						.						168.0	130.0	142.0					X																	146312342		1568	3582	5150			574511	.			CACATAGTATGGC			Xq27.3	2011-09-12		2008-12-18	ENSG00000207731	ENSG00000207731		"""ncRNAs / Micro RNAs"""	32143	non-coding RNA	RNA, micro		300877		MIRN506			Standard	NR_030233		Approved	hsa-mir-506	uc022cfu.1				X.37:g.146312342G>T		133	0		155	99	.	0	0	0	0	0		RNA	SNP	ENST00000384998.1	37																																																																																				.		0.428	MIR506-201	KNOWN	basic	miRNA	miRNA		NR_030233	
MAGEA2B	266740	hgsc.bcm.edu	37	X	151886093	151886093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:151886093delG	ENST00000370293.2	+	3	711	c.498delG	c.(496-498)gtgfs	p.V167fs	MAGEA2B_ENST00000331220.2_Frame_Shift_Del_p.V167fs	NM_001282504.1|NM_001282505.1|NM_153488.3	NP_001269433.1|NP_001269434.1|NP_705692.1	P43356	MAGA2_HUMAN	melanoma antigen family A, 2B	167	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|cellular senescence (GO:0090398)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|signal transduction by p53 class mediator (GO:0072331)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PML body (GO:0016605)	histone deacetylase binding (GO:0042826)|repressing transcription factor binding (GO:0070491)|ubiquitin protein ligase binding (GO:0031625)					Acute lymphoblastic leukemia(192;6.56e-05)					GCATCGAGGTGGTGGAAGTGG	0.552																																					p.V166fs		.											.	.	0			c.498delG						.						1.0	1.0	1.0					X																	151886093		2	10	12	SO:0001589	frameshift_variant	4101	exon6			CGAGGTGGTGGAA	BC013098	CCDS76046.1	Xq28	2008-02-05			ENSG00000183305	ENSG00000183305			19340	protein-coding gene	gene with protein product		300549				8575766	Standard	NM_153488		Approved	MAGEA2b, MAGE2, MGC16973, MAGEA2		P43356	OTTHUMG00000022645	ENST00000370293.2:c.498delG	X.37:g.151886093delG	ENSP00000359316:p.Val167fs	422	0		585	207	NM_175742	0	0	0	0	0	A8K328|Q32NC6	Frame_Shift_Del	DEL	ENST00000370293.2	37	CCDS44016.1																																																																																			.		0.552	MAGEA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058751.2	NM_153488	
MAGEA2	4101	hgsc.bcm.edu	37	X	151919389	151919389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chrX:151919389delC	ENST00000370284.1	-	3	658	c.499delG	c.(499-501)gtgfs	p.V167fs	MAGEA2_ENST00000480629.1_5'UTR|MAGEA2_ENST00000393876.1_Frame_Shift_Del_p.V167fs|MAGEA2_ENST00000543232.1_Frame_Shift_Del_p.V167fs|MAGEA2_ENST00000393872.3_Frame_Shift_Del_p.V167fs	NM_001282505.1|NM_153488.3	NP_001269434.1|NP_705692.1	P43356	MAGA2_HUMAN	melanoma antigen family A, 2	167	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|cellular senescence (GO:0090398)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|signal transduction by p53 class mediator (GO:0072331)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PML body (GO:0016605)	histone deacetylase binding (GO:0042826)|repressing transcription factor binding (GO:0070491)|ubiquitin protein ligase binding (GO:0031625)					Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTTCCACCACCTCGATG	0.552																																					p.V167fs		.											.	.	0			c.499delG						.						1.0	1.0	1.0					X																	151919389		2	5	7	SO:0001589	frameshift_variant	4101	exon6			CTTCCACCACCTC	BC063681	CCDS76049.1	Xq28	2009-03-13			ENSG00000184750	ENSG00000268606			6800	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 2"""	300173		MAGE2		1840703, 8575766	Standard	NM_175743		Approved	MAGEA2A, CT1.2	uc004ffz.1	P43356	OTTHUMG00000022639	ENST00000370284.1:c.499delG	X.37:g.151919389delC	ENSP00000359307:p.Val167fs	471	0		606	196	NM_175742	0	0	0	0	0	A8K328|Q32NC6	Frame_Shift_Del	DEL	ENST00000370284.1	37	CCDS14713.1																																																																																			.		0.552	MAGEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058737.1	NM_005361	
SPTA1	6708	hgsc.bcm.edu;bcgsc.ca	37	1	158627366	158627367	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:158627366_158627367insT	ENST00000368147.4	-	19	2885_2886	c.2705_2706insA	c.(2704-2706)cagfs	p.Q902fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	902					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)					CCAGGTACTGCTGGAACTGGAC	0.48																																					p.Q902fs		.											.	SPTA1-142	0			c.2706_2707insA						.																																			SO:0001589	frameshift_variant	6708	exon19			GTACTGCTGGAAC	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.2706dupA	1.37:g.158627367_158627367dupT	ENSP00000357129:p.Gln902fs	112	0		208	155	NM_003126	0	0	0	0	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Ins	INS	ENST00000368147.4	37	CCDS41423.1																																																																																			.		0.480	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					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)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939				p.G1840delinsSSGG		.											.	NCOR2-229	0			c.5518_5519insAGCAGCGGC						.																																			SO:0001652	inframe_insertion	9612	exon39			CACCCCCGCCGCT	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.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	4	0		36	12	NM_006312	0	0	0	0	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																			.		0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
NAALADL2	254827	broad.mit.edu	37	3	175293828	175293829	+	Splice_Site	INS	-	-	A			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr3:175293828_175293829insA	ENST00000454872.1	+	10	1781_1782		c.e10-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGTTTTTCAGAAAAATAATTT	0.381																																					.		.											.	NAALADL2-47	0			c.1654-1->A						.																																			SO:0001630	splice_region_variant	254827	exon10			TTTTCAGAAAAAT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1654-1->A	3.37:g.175293833_175293833dupA		48	0		54	8	NM_207015	0	0	0	0	0	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	INS	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.381	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron
ELAVL2	1993	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	23693475	23693476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr9:23693475_23693476insT	ENST00000397312.2	-	6	996_997	c.722_723insA	c.(721-723)aatfs	p.N241fs	ELAVL2_ENST00000380117.1_Frame_Shift_Ins_p.N241fs|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000544538.1_Frame_Shift_Ins_p.N241fs|ELAVL2_ENST00000380110.4_Frame_Shift_Ins_p.N270fs	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	241					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TATTGAGCAGATTGTCCAACCT	0.396																																					p.N241fs		.											.	ELAVL2-516	0			c.723_724insA						.																																			SO:0001589	frameshift_variant	1993	exon6			GAGCAGATTGTCC	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.723dupA	9.37:g.23693477_23693477dupT	ENSP00000380479:p.Asn241fs	107	0		122	42	NM_004432	0	0	0	0	0	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Frame_Shift_Ins	INS	ENST00000397312.2	37	CCDS6515.1																																																																																			.		0.396	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
ELTD1	64123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	79385979	79385980	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr1:79385979_79385980CC>AA	ENST00000370742.3	-	10	1412_1413	c.1349_1350GG>TT	c.(1348-1350)tGG>tTT	p.W450F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	450					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACTGAAGAACCAGAAGGTAAA	0.332																																					p.W450F		.											.	ELTD1-24	0			c.G1349T						.																																			SO:0001583	missense	64123	exon10			AAGAACCAGAAGG	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1349_1350delinsAA	1.37:g.79385979_79385980delinsAA	ENSP00000359778:p.Trp450Phe	45	0		45	6	NM_022159	0	0	0	0	0	B1AR71|Q5KU34	Missense_Mutation	DNP	ENST00000370742.3	37	CCDS41352.1																																																																																			.		0.332	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
MUC2	4583	bcgsc.ca	37	11	1093104	1093105	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr11:1093104_1093105CC>AG	ENST00000441003.2	+	30	4950_4951	c.4923_4924CC>AG	c.(4921-4926)acCCca>acAGca	p.P1642A	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.P1609A|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	tgaccccaaccccaacacccac	0.634																																					p.P1642A		.											.	MUC2-90	0			c.C4924G						.																																			SO:0001583	missense	4583	exon30			CCAACCCCAACAC	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	Exception_encountered	11.37:g.1093104_1093105delinsAG	ENSP00000415183:p.Pro1642Ala	105	0		176	0	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	DNP	ENST00000441003.2	37																																																																																				.		0.634	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
SDS	10993	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	113836362	113836363	+	Missense_Mutation	DNP	GG	GG	AT	rs373115603		TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	GG	GG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr12:113836362_113836363GG>AT	ENST00000257549.4	-	5	504_505	c.382_383CC>AT	c.(382-384)CCg>ATg	p.P128M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	128					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	GACCCAACCCGGGTTGTTCTTC	0.584																																					p.P128M		.											.	SDS-91	0			c.C382A						.																																			SO:0001583	missense	10993	exon5			AACCCGGGTTGTT	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.382_383delinsAT	12.37:g.113836362_113836363delinsAT	ENSP00000257549:p.Pro128Met	33	0		68	0	NM_006843	0	0	0	0	0	A8K9P5	Missense_Mutation	DNP	ENST00000257549.4	37	CCDS9169.1																																																																																			.		0.584	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843	
KRTAP4-7	100132476	hgsc.bcm.edu	37	17	39240804	39240805	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CG	CG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr17:39240804_39240805CG>AT	ENST00000391417.4	+	1	346_347	c.346_347CG>AT	c.(346-348)CGc>ATc	p.R116I		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	141	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgccgcccctgctgc	0.673																																					p.R116I		.											.	.	0			c.G347T						.																																			SO:0001583	missense	100132476	exon1			GCTGCCGCCCCTG	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	Exception_encountered	17.37:g.39240804_39240805delinsAT	ENSP00000375236:p.Arg116Ile	46	0		162	0	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	DNP	ENST00000391417.4	37	CCDS45673.1																																																																																			.		0.673	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
LIM2	3982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	51890472	51890473	+	Intron	DNP	CC	CC	AA	rs147625714|rs2741232	byFrequency	TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr19:51890472_51890473CC>AA	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Missense_Mutation_p.D76Y	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GCCCCGAGGTCCGCCCTGCTCT	0.634																																					p.D76Y		.											.	LIM2-90	0			c.G225T						.																																			SO:0001627	intron_variant	3982	exon2			GAGGTCCGCCCTG		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.176_176delinsAA	19.37:g.51890472_51890473delinsAA		67	0		79	5	NM_030657	0	0	0	0	0	Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	DNP	ENST00000596399.1	37	CCDS59415.1																																																																																			C|0.999;T|0.001		0.634	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657	
CDH9	1007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	26881656	26881657	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-OR-A5JB-01A-11D-A29I-10	TCGA-OR-A5JB-10A-01D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae895223-2bbb-4ce7-af4d-f8d66be796b5	d5966629-ec69-40d3-bd5e-28e207c0da9d	g.chr5:26881656_26881657CC>AA	ENST00000231021.4	-	12	2130_2131	c.1958_1959GG>TT	c.(1957-1959)cGG>cTT	p.R653L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	653					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R653L(1)|p.R653R(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAATGTTGTCCCGGACATCGTC	0.411																																					p.R653L	Melanoma(8;187 585 15745 40864 52829)	.											.	CDH9-99	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	c.G1958T						.																																			SO:0001583	missense	1007	exon12			TTGTCCCGGACAT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1958_1959delinsAA	5.37:g.26881656_26881657delinsAA	ENSP00000231021:p.Arg653Leu	43	0		45	1	NM_016279	0	0	0	0	0	Q3B7I5	Missense_Mutation	DNP	ENST00000231021.4	37	CCDS3893.1																																																																																			.		0.411	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
