#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ERRFI1	54206	hgsc.bcm.edu	37	1	8073367	8073367	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:8073367C>T	ENST00000377482.5	-	4	1515	c.1292G>A	c.(1291-1293)gGt>gAt	p.G431D	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	431					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TGAAGATATACCGCAGTCAGC	0.443																																					p.G431D		Atlas-SNP	.											.	ERRFI1	42	.	0			c.G1292A						.						151.0	140.0	144.0					1																	8073367		2203	4300	6503	SO:0001583	missense	54206	exon4			GATATACCGCAGT	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1292G>A	chr1.hg19:g.8073367C>T	ENSP00000366702:p.Gly431Asp	170.0	0.0		126.0	30.0	NM_018948	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	hg19	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376769	0.24857	.	.	ENSG00000116285	ENST00000377482	T	0.14640	2.49	5.9	4.98	0.66077	.	0.981135	0.08373	N	0.955827	T	0.10637	0.0260	N	0.22421	0.69	0.09310	N	0.999996	B	0.23735	0.09	B	0.21708	0.036	T	0.34650	-0.9820	10	0.12103	T	0.63	-10.0656	11.6364	0.51207	0.128:0.6245:0.2475:0.0	.	431	Q9UJM3	ERRFI_HUMAN	D	431	ENSP00000366702:G431D	ENSP00000366702:G431D	G	-	2	0	ERRFI1	7995954	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	1.062000	0.30555	1.466000	0.48025	0.650000	0.86243	GGT	.	.		0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
VPS13D	55187	hgsc.bcm.edu	37	1	12336568	12336568	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:12336568A>G	ENST00000358136.3	+	19	3053	c.2923A>G	c.(2923-2925)Att>Gtt	p.I975V	VPS13D_ENST00000356315.4_Missense_Mutation_p.I975V	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)		TGGCCGGTACATTTCTGTGCT	0.507											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I975V		Atlas-SNP	.											.	VPS13D	316	.	0			c.A2923G						.						115.0	109.0	111.0					1																	12336568		2203	4300	6503	SO:0001583	missense	55187	exon19			CGGTACATTTCTG	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.2923A>G	chr1.hg19:g.12336568A>G	ENSP00000350854:p.Ile975Val	82.0	0.0	679	74.0	20.0	NM_015378		Missense_Mutation	SNP	ENST00000358136.3	hg19	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	8.295	0.818710	0.16607	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54279	0.58;0.58	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.37630	1.12	0.80722	D	1	B;B	0.33022	0.394;0.274	B;B	0.32465	0.146;0.069	T	0.31223	-0.9951	10	0.15499	T	0.54	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	975;975	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	975	ENSP00000348666:I975V;ENSP00000350854:I975V	ENSP00000348666:I975V	I	+	1	0	VPS13D	12259155	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.957000	0.93082	2.315000	0.78130	0.533000	0.62120	ATT	.	.		0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
MACF1	23499	hgsc.bcm.edu	37	1	39750866	39750866	+	Silent	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:39750866C>A	ENST00000372915.3	+	11	1345	c.1258C>A	c.(1258-1260)Cgg>Agg	p.R420R	MACF1_ENST00000317713.7_Silent_p.R420R|MACF1_ENST00000361689.2_Silent_p.R420R|MACF1_ENST00000567887.1_Silent_p.R452R|MACF1_ENST00000545844.1_Silent_p.R420R|MACF1_ENST00000539005.1_Silent_p.R420R|MACF1_ENST00000564288.1_Silent_p.R415R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	420					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATCACTTCGGCCGGCTGT	0.453																																					p.R420R		Atlas-SNP	.											.	MACF1	909	.	0			c.C1258A						.						125.0	127.0	126.0					1																	39750866		2203	4300	6503	SO:0001819	synonymous_variant	23499	exon13			TCACTTCGGCCGG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1258C>A	chr1.hg19:g.39750866C>A		173.0	0.0		184.0	38.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	hg19																																																																																				.	.		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
USP24	23358	hgsc.bcm.edu	37	1	55619849	55619849	+	Silent	SNP	T	T	G	rs377666153		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:55619849T>G	ENST00000294383.6	-	15	1754	c.1755A>C	c.(1753-1755)gcA>gcC	p.A585A	USP24_ENST00000407756.1_Silent_p.A441A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	585					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTCTTTCACTGCATATGCAT	0.448																																					p.A585A		Atlas-SNP	.											.	USP24	323	.	0			c.A1755C						.						123.0	116.0	119.0					1																	55619849		1954	4165	6119	SO:0001819	synonymous_variant	23358	exon15			TTTCACTGCATAT	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1755A>C	chr1.hg19:g.55619849T>G		136.0	0.0		93.0	22.0	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	hg19	CCDS44154.2																																																																																			.	.		0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PTGER3	5733	hgsc.bcm.edu	37	1	71512635	71512635	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:71512635A>T	ENST00000306666.5	-	1	836	c.626T>A	c.(625-627)tTc>tAc	p.F209Y	PTGER3_ENST00000351052.5_Missense_Mutation_p.F209Y|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000354608.5_Missense_Mutation_p.F209Y|PTGER3_ENST00000414819.1_Missense_Mutation_p.F209Y|PTGER3_ENST00000370924.4_Missense_Mutation_p.F209Y|PTGER3_ENST00000370932.2_Missense_Mutation_p.F209Y|PTGER3_ENST00000356595.4_Missense_Mutation_p.F209Y|PTGER3_ENST00000370931.3_Missense_Mutation_p.F209Y|PTGER3_ENST00000460330.1_Missense_Mutation_p.F209Y	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	209					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GGTGCTGATGAAGCACCACGT	0.672																																					p.F209Y		Atlas-SNP	.											.	PTGER3	246	.	0			c.T626A						.						54.0	56.0	56.0					1																	71512635		2203	4300	6503	SO:0001583	missense	5733	exon1			CTGATGAAGCACC	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.626T>A	chr1.hg19:g.71512635A>T	ENSP00000302313:p.Phe209Tyr	143.0	0.0		109.0	21.0	NM_001126044	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	hg19	CCDS657.1	.	.	.	.	.	.	.	.	.	.	A	33	5.208574	0.95069	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.998;0.999;0.999	T	0.57619	-0.7780	10	0.59425	D	0.04	-35.4192	15.0441	0.71813	1.0:0.0:0.0:0.0	.	209;209;209;209;209;209;209;209	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	Y	209	ENSP00000359969:F209Y;ENSP00000359970:F209Y;ENSP00000280208:F209Y;ENSP00000418073:F209Y;ENSP00000346624:F209Y;ENSP00000349003:F209Y;ENSP00000401423:F209Y;ENSP00000302313:F209Y;ENSP00000359962:F209Y	ENSP00000302313:F209Y	F	-	2	0	PTGER3	71285223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.008000	0.76341	2.136000	0.66102	0.379000	0.24179	TTC	.	.		0.672	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
WARS2	10352	hgsc.bcm.edu	37	1	119683215	119683215	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:119683215G>T	ENST00000235521.4	-	1	79	c.53C>A	c.(52-54)gCa>gAa	p.A18E	WARS2_ENST00000497761.1_5'UTR|WARS2_ENST00000369426.5_Missense_Mutation_p.A18E|RP11-418J17.1_ENST00000425884.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|RP11-418J17.1_ENST00000440150.1_RNA|RP11-418J17.1_ENST00000418015.1_RNA|WARS2_ENST00000537870.1_5'Flank|RP11-418J17.1_ENST00000413531.1_RNA	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	18					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTTATGAAGTGCCCGGATGAA	0.597																																					p.A18E		Atlas-SNP	.											.	WARS2	69	.	0			c.C53A						.						46.0	47.0	47.0					1																	119683215		2203	4300	6503	SO:0001583	missense	10352	exon1			TGAAGTGCCCGGA	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.53C>A	chr1.hg19:g.119683215G>T	ENSP00000235521:p.Ala18Glu	77.0	0.0		76.0	12.0	NM_015836	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	hg19	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015510	0.75161	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.47528	0.84;1.85	6.04	6.04	0.98038	.	0.197788	0.44902	D	0.000409	T	0.50429	0.1615	L	0.46157	1.445	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.026;1.0	D;D;B;D	0.83275	0.996;0.996;0.015;0.996	T	0.31336	-0.9947	10	0.14656	T	0.56	-17.0199	16.0793	0.80989	0.0:0.0:1.0:0.0	.	18;18;18;18	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	E	18	ENSP00000358434:A18E;ENSP00000235521:A18E	ENSP00000235521:A18E	A	-	2	0	WARS2	119484738	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.489000	0.60309	2.873000	0.98535	0.561000	0.74099	GCA	.	.		0.597	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
NUF2	83540	hgsc.bcm.edu	37	1	163318764	163318764	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:163318764G>A	ENST00000271452.3	+	13	1433	c.1154G>A	c.(1153-1155)gGt>gAt	p.G385D	NUF2_ENST00000367900.3_Missense_Mutation_p.G385D|NUF2_ENST00000524800.1_Missense_Mutation_p.G338D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	385	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAAAAAGAGGTGCTGTCTAT	0.333																																					p.G385D		Atlas-SNP	.											.	NUF2	138	.	0			c.G1154A						.						72.0	77.0	75.0					1																	163318764		2203	4300	6503	SO:0001583	missense	83540	exon13			AAAGAGGTGCTGT	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1154G>A	chr1.hg19:g.163318764G>A	ENSP00000271452:p.Gly385Asp	596.0	0.0		658.0	122.0	NM_145697	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	hg19	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941818	0.18281	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.31769	1.48;1.51;1.51	5.5	3.63	0.41609	.	0.555420	0.20424	N	0.092605	T	0.04952	0.0133	N	0.08118	0	0.31999	N	0.603575	B;B	0.21225	0.009;0.053	B;B	0.17722	0.005;0.019	T	0.35251	-0.9796	9	0.16420	T	0.52	-5.5482	9.0298	0.36252	0.1739:0.0:0.8261:0.0	.	338;385	E9PQC4;Q9BZD4	.;NUF2_HUMAN	D	338;385;385	ENSP00000436888:G338D;ENSP00000356875:G385D;ENSP00000271452:G385D	ENSP00000271452:G385D	G	+	2	0	NUF2	161585388	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.640000	0.54350	0.859000	0.35456	-0.150000	0.13652	GGT	.	.		0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
TOR3A	64222	hgsc.bcm.edu	37	1	179054765	179054765	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:179054765T>G	ENST00000367627.3	+	3	1128	c.376T>G	c.(376-378)Tta>Gta	p.L126V	TOR3A_ENST00000352445.6_Missense_Mutation_p.L126V	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	126					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						GTCCTTAGGCTTAGAGTGGGA	0.532																																					p.L126V		Atlas-SNP	.											.	TOR3A	28	.	0			c.T376G						.						148.0	156.0	153.0					1																	179054765		2203	4300	6503	SO:0001583	missense	64222	exon3			TTAGGCTTAGAGT	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.376T>G	chr1.hg19:g.179054765T>G	ENSP00000356599:p.Leu126Val	133.0	0.0		133.0	44.0	NM_022371	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	hg19	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149966	0.57151	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.61510	0.1;0.1;0.1	5.57	2.48	0.30137	.	0.000000	0.64402	D	0.000001	T	0.72692	0.3492	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71507	-0.4572	10	0.66056	D	0.02	-5.5424	6.6825	0.23127	0.0:0.5621:0.0:0.4379	.	126	Q9H497	TOR3A_HUMAN	V	126;126;18	ENSP00000356599:L126V;ENSP00000335351:L126V;ENSP00000410195:L18V	ENSP00000335351:L126V	L	+	1	2	TOR3A	177321388	0.995000	0.38212	0.925000	0.36789	0.420000	0.31355	0.404000	0.20999	0.566000	0.29273	0.459000	0.35465	TTA	.	.		0.532	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
USH2A	7399	hgsc.bcm.edu	37	1	216462647	216462647	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:216462647C>T	ENST00000307340.3	-	11	2332	c.1946G>A	c.(1945-1947)aGa>aAa	p.R649K	USH2A_ENST00000366943.2_Missense_Mutation_p.R649K|USH2A_ENST00000366942.3_Missense_Mutation_p.R649K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	649	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTACCATTTCTAGTGCCAAC	0.408										HNSCC(13;0.011)																											p.R649K		Atlas-SNP	.											.	USH2A	1168	.	0			c.G1946A						.						157.0	139.0	145.0					1																	216462647		2203	4300	6503	SO:0001583	missense	7399	exon11			CCATTTCTAGTGC	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1946G>A	chr1.hg19:g.216462647C>T	ENSP00000305941:p.Arg649Lys	125.0	0.0		144.0	22.0	NM_007123	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.667344	0.00765	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.54279	0.58;0.58;0.58	5.43	2.5	0.30297	EGF-like, laminin (3);	0.317558	0.22531	N	0.058851	T	0.26085	0.0636	N	0.16790	0.44	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.007;0.007	T	0.21621	-1.0240	10	0.05833	T	0.94	.	4.067	0.09864	0.2611:0.4529:0.0:0.286	.	649;649	O75445-2;O75445	.;USH2A_HUMAN	K	649	ENSP00000305941:R649K;ENSP00000355910:R649K;ENSP00000355909:R649K	ENSP00000305941:R649K	R	-	2	0	USH2A	214529270	0.997000	0.39634	0.004000	0.12327	0.044000	0.14063	1.831000	0.39141	0.784000	0.33661	0.557000	0.71058	AGA	.	.		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
RYR2	6262	hgsc.bcm.edu	37	1	237754010	237754010	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:237754010A>C	ENST00000366574.2	+	31	4195	c.3878A>C	c.(3877-3879)cAg>cCg	p.Q1293P	RYR2_ENST00000542537.1_Missense_Mutation_p.Q1277P|RYR2_ENST00000360064.6_Missense_Mutation_p.Q1291P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1293	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGGTTCTCAGAACAGCAAC	0.512																																					p.Q1293P		Atlas-SNP	.											.	RYR2	1273	.	0			c.A3878C						.						250.0	237.0	241.0					1																	237754010		1964	4159	6123	SO:0001583	missense	6262	exon31			GTTCTCAGAACAG	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3878A>C	chr1.hg19:g.237754010A>C	ENSP00000355533:p.Gln1293Pro	85.0	0.0		71.0	13.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	a	15.51	2.854109	0.51270	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.1;-4.12	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000027	D	0.94195	0.8137	L	0.49640	1.575	0.80722	D	1	B	0.31153	0.31	B	0.31016	0.123	D	0.93338	0.6707	10	0.45353	T	0.12	-18.9629	15.2157	0.73264	1.0:0.0:0.0:0.0	.	1293	Q92736	RYR2_HUMAN	P	1293;1291;1277	ENSP00000355533:Q1293P;ENSP00000353174:Q1291P;ENSP00000443798:Q1277P	ENSP00000353174:Q1291P	Q	+	2	0	RYR2	235820633	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.985000	0.93487	2.241000	0.73720	0.533000	0.62120	CAG	.	.		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
KIF26B	55083	hgsc.bcm.edu	37	1	245849955	245849955	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:245849955T>C	ENST00000407071.2	+	12	4110	c.3670T>C	c.(3670-3672)Tcg>Ccg	p.S1224P	KIF26B_ENST00000366518.4_Missense_Mutation_p.S843P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1224					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)			GGCCCTGGCCTCGGGCTCGCG	0.657																																					p.S1224P		Atlas-SNP	.											.	KIF26B	343	.	0			c.T3670C						.						19.0	26.0	23.0					1																	245849955		2106	4212	6318	SO:0001583	missense	55083	exon12			CTGGCCTCGGGCT	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.3670T>C	chr1.hg19:g.245849955T>C	ENSP00000385545:p.Ser1224Pro	97.0	0.0		62.0	10.0	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	hg19	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563980	0.45694	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.81739	-1.53;-1.53	5.77	5.77	0.91146	.	.	.	.	.	T	0.80919	0.4716	M	0.75447	2.3	0.53005	D	0.999962	B;B	0.34372	0.451;0.451	B;B	0.33339	0.162;0.086	T	0.81339	-0.0977	9	0.51188	T	0.08	.	16.0977	0.81139	0.0:0.0:0.0:1.0	.	843;1224	B7WPD9;Q2KJY2	.;KI26B_HUMAN	P	1224;843;840	ENSP00000385545:S1224P;ENSP00000355475:S843P	ENSP00000355475:S843P	S	+	1	0	KIF26B	243916578	1.000000	0.71417	0.985000	0.45067	0.703000	0.40648	3.494000	0.53273	2.215000	0.71742	0.459000	0.35465	TCG	.	.		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
ZNF695	57116	hgsc.bcm.edu	37	1	247150827	247150827	+	Silent	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:247150827G>T	ENST00000339986.7	-	4	1137	c.990C>A	c.(988-990)ggC>ggA	p.G330G	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	330					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TAAAGACTTTGCCACATTCTT	0.368																																					p.G330G		Atlas-SNP	.											.	ZNF695	55	.	0			c.C990A						.						34.0	36.0	35.0					1																	247150827		2110	4267	6377	SO:0001819	synonymous_variant	57116	exon4			GACTTTGCCACAT		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.990C>A	chr1.hg19:g.247150827G>T		113.0	0.0		114.0	12.0	NM_020394	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	ENST00000339986.7	hg19	CCDS44344.1																																																																																			.	.		0.368	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394	
OR2T2	401992	hgsc.bcm.edu	37	1	248616773	248616773	+	Silent	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr1:248616773T>A	ENST00000342927.3	+	1	697	c.675T>A	c.(673-675)acT>acA	p.T225T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTCCTGACTGTCCACAGGA	0.537																																					p.T225T		Atlas-SNP	.											.	OR2T2	73	.	0			c.T675A						.						142.0	98.0	113.0					1																	248616773		2186	4262	6448	SO:0001819	synonymous_variant	401992	exon1			CCTGACTGTCCAC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.675T>A	chr1.hg19:g.248616773T>A		357.0	0.0		431.0	53.0	NM_001004136	B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	hg19	CCDS31116.1																																																																																			.	.		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136	
C2orf71	388939	hgsc.bcm.edu	37	2	29296299	29296299	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:29296299T>C	ENST00000331664.5	-	1	828	c.829A>G	c.(829-831)Aag>Gag	p.K277E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	277					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACCTGCAGCTTGCTGACTGTG	0.567																																					p.K277E		Atlas-SNP	.											.	C2orf71	146	.	0			c.A829G						.						75.0	77.0	77.0					2																	29296299		2035	4191	6226	SO:0001583	missense	388939	exon1			GCAGCTTGCTGAC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.829A>G	chr2.hg19:g.29296299T>C	ENSP00000332809:p.Lys277Glu	84.0	0.0		51.0	12.0	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	hg19	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693795	0.68386	.	.	ENSG00000179270	ENST00000331664	T	0.27720	1.65	5.62	1.77	0.24775	.	0.315716	0.33419	N	0.004934	T	0.46560	0.1399	M	0.68952	2.095	0.27947	N	0.937286	D	0.64830	0.994	P	0.58721	0.844	T	0.48151	-0.9060	10	0.72032	D	0.01	-16.5961	13.2868	0.60247	0.0:0.0:0.4096:0.5904	.	277	A6NGG8	CB071_HUMAN	E	277	ENSP00000332809:K277E	ENSP00000332809:K277E	K	-	1	0	C2orf71	29149803	1.000000	0.71417	0.948000	0.38648	0.931000	0.56810	3.228000	0.51270	0.054000	0.16065	0.459000	0.35465	AAG	.	.		0.567	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
AFTPH	54812	hgsc.bcm.edu	37	2	64800193	64800193	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:64800193T>A	ENST00000422803.1	+	6	2699	c.2385T>A	c.(2383-2385)gaT>gaA	p.D795E	AFTPH_ENST00000238855.7_Missense_Mutation_p.D795E|AFTPH_ENST00000409933.1_Missense_Mutation_p.D795E|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.D426E|AFTPH_ENST00000238856.4_Missense_Mutation_p.D795E			Q6ULP2	AFTIN_HUMAN	aftiphilin	795					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GTACATCTGATCAGTTCCAGG	0.378																																					p.D795E		Atlas-SNP	.											.	AFTPH	117	.	0			c.T2385A						.						139.0	139.0	139.0					2																	64800193		2203	4300	6503	SO:0001583	missense	54812	exon6			ATCTGATCAGTTC	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2385T>A	chr2.hg19:g.64800193T>A	ENSP00000397726:p.Asp795Glu	337.0	0.0		310.0	28.0	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.7	4.187770	0.78789	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.52983	1.52;1.63;1.63;1.63;0.64	5.41	2.02	0.26589	.	0.056188	0.64402	D	0.000002	T	0.60379	0.2264	M	0.65975	2.015	0.37846	D	0.929211	P;D;P;D	0.71674	0.938;0.997;0.746;0.998	P;D;B;D	0.72982	0.8;0.921;0.385;0.979	T	0.61806	-0.6987	10	0.72032	D	0.01	-5.9953	7.1758	0.25744	0.0:0.2677:0.0:0.7323	.	795;795;795;795	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	E	795;795;795;795;426	ENSP00000238856:D795E;ENSP00000397726:D795E;ENSP00000238855:D795E;ENSP00000387071:D795E;ENSP00000386913:D426E	ENSP00000238855:D795E	D	+	3	2	AFTPH	64653697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.745000	0.38278	0.210000	0.20664	0.454000	0.30748	GAT	.	.		0.378	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
GLI2	2736	hgsc.bcm.edu	37	2	121736076	121736076	+	Missense_Mutation	SNP	C	C	T	rs121917708		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:121736076C>T	ENST00000452319.1	+	10	1495	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	GLI2_ENST00000361492.4_Missense_Mutation_p.R479W|GLI2_ENST00000314490.11_Missense_Mutation_p.R151W|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCCTGCACGCGGGAGCAGAA	0.622																																					p.R479W		Atlas-SNP	.											.	GLI2	187	.	0			c.C1435T	GRCh37	CM066094	GLI2	M	rs121917708	.						119.0	110.0	113.0					2																	121736076		2203	4300	6503	SO:0001583	missense	2736	exon9			TGCACGCGGGAGC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1435C>T	chr2.hg19:g.121736076C>T	ENSP00000390436:p.Arg479Trp	383.0	0.0		374.0	76.0	NM_005270		Missense_Mutation	SNP	ENST00000452319.1	hg19	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189275	0.78789	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91577	-2.87;-2.87;-2.87	4.03	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	H	0.97131	3.945	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.938;0.998;0.962;0.999;0.981	D	0.96186	0.9134	10	0.87932	D	0	.	12.274	0.54724	0.384:0.616:0.0:0.0	.	479;462;134;134;151	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	W	479;479;151	ENSP00000390436:R479W;ENSP00000354586:R479W;ENSP00000312694:R151W	ENSP00000312694:R151W	R	+	1	2	GLI2	121452546	0.992000	0.36948	0.988000	0.46212	0.974000	0.67602	3.028000	0.49705	0.288000	0.22398	0.491000	0.48974	CGG	.	.		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
ARHGAP15	55843	hgsc.bcm.edu	37	2	144193255	144193255	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:144193255C>A	ENST00000295095.6	+	7	727	c.560C>A	c.(559-561)gCa>gAa	p.A187E	AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	187	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATCAAAAATGCAATTGACAGA	0.318																																					p.A187E		Atlas-SNP	.											.	ARHGAP15	99	.	0			c.C560A						.						135.0	121.0	126.0					2																	144193255		2203	4299	6502	SO:0001583	missense	55843	exon7			AAAATGCAATTGA	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.560C>A	chr2.hg19:g.144193255C>A	ENSP00000295095:p.Ala187Glu	84.0	0.0		54.0	6.0	NM_018460	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	hg19	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314412	0.60524	.	.	ENSG00000075884	ENST00000295095	D	0.82255	-1.59	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.246700	0.40469	N	0.001094	D	0.87676	0.6237	M	0.72353	2.195	0.54753	D	0.999986	B;B	0.33299	0.407;0.008	B;B	0.43950	0.437;0.189	D	0.87200	0.2240	10	0.66056	D	0.02	.	19.7962	0.96484	0.0:1.0:0.0:0.0	.	187;187	B4E0R3;Q53QZ3	.;RHG15_HUMAN	E	187	ENSP00000295095:A187E	ENSP00000295095:A187E	A	+	2	0	ARHGAP15	143909725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.704000	0.68347	2.744000	0.94065	0.650000	0.86243	GCA	.	.		0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
LY75	4065	hgsc.bcm.edu	37	2	160708804	160708804	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:160708804C>T	ENST00000263636.4	-	21	2818	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	LY75_ENST00000553424.1_Missense_Mutation_p.E931K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E931K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E931K|LY75_ENST00000554112.1_Missense_Mutation_p.E931K	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	931	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTATATTTTTCACAGATGAAG	0.368																																					p.E931K		Atlas-SNP	.											.	LY75	151	.	0			c.G2791A						.						82.0	84.0	84.0					2																	160708804		2203	4300	6503	SO:0001583	missense	4065	exon21			ATTTTTCACAGAT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2791G>A	chr2.hg19:g.160708804C>T	ENSP00000263636:p.Glu931Lys	177.0	0.0		158.0	30.0	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	hg19	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696368	0.68386	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.12	5.12	0.69794	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.32952	U	0.005443	T	0.26195	0.0639	M	0.81497	2.545	0.53005	D	0.999965	D;D;D	0.67145	0.996;0.981;0.986	D;P;P	0.62955	0.909;0.718;0.795	T	0.01988	-1.1234	10	0.23302	T	0.38	-26.0091	14.3894	0.66968	0.0:1.0:0.0:0.0	.	931;931;931	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	K	931	ENSP00000451511:E931K;ENSP00000451446:E931K;ENSP00000263636:E931K;ENSP00000423463:E931K;ENSP00000421035:E931K	ENSP00000423463:E931K	E	-	1	0	LY75;LY75-CD302	160417050	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.258000	0.58822	2.543000	0.85770	0.585000	0.79938	GAA	.	.		0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
XIRP2	129446	hgsc.bcm.edu	37	2	168101315	168101315	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:168101315C>A	ENST00000409195.1	+	9	3502	c.3413C>A	c.(3412-3414)aCc>aAc	p.T1138N	XIRP2_ENST00000409273.1_Missense_Mutation_p.T916N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1138N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	963					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCACTTGATACCATAAAAGAT	0.383																																					p.T1138N		Atlas-SNP	.											.	XIRP2	914	.	0			c.C3413A						.						71.0	65.0	67.0					2																	168101315		1848	4098	5946	SO:0001583	missense	129446	exon9			TTGATACCATAAA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3413C>A	chr2.hg19:g.168101315C>A	ENSP00000386840:p.Thr1138Asn	314.0	0.0		331.0	51.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199422	0.06219	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02323	4.34;4.34;4.34	5.84	3.96	0.45880	.	0.647313	0.16942	N	0.193235	T	0.03011	0.0089	L	0.29908	0.895	0.21553	N	0.999645	B;B;B	0.20368	0.026;0.044;0.044	B;B;B	0.22601	0.018;0.04;0.04	T	0.41324	-0.9515	10	0.30854	T	0.27	-0.0844	11.6959	0.51542	0.1324:0.7227:0.1449:0.0	.	963;963;916	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1138;1138;916	ENSP00000386840:T1138N;ENSP00000295237:T1138N;ENSP00000387255:T916N	ENSP00000295237:T1138N	T	+	2	0	XIRP2	167809561	0.002000	0.14202	0.986000	0.45419	0.603000	0.37013	1.371000	0.34250	1.455000	0.47813	0.655000	0.94253	ACC	.	.		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
ZNF385B	151126	hgsc.bcm.edu	37	2	180634264	180634264	+	Silent	SNP	G	G	A	rs370441083		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:180634264G>A	ENST00000410066.1	-	3	822	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	73	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGGCCTGGGCGGGTGGTGGGG	0.622																																					p.P73P	Colon(155;204 2491 32774 51842)	Atlas-SNP	.											.	ZNF385B	68	.	0			c.C219T						.	G		0,4406		0,0,2203	45.0	44.0	45.0		219	-12.1	0.0	2		45	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF385B	NM_152520.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		73/472	180634264	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	151126	exon3			CTGGGCGGGTGGT	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.219C>T	chr2.hg19:g.180634264G>A		87.0	0.0		74.0	7.0	NM_152520	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	hg19	CCDS33339.1																																																																																			.	.		0.622	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
ORC2	4999	hgsc.bcm.edu	37	2	201798638	201798638	+	Silent	SNP	A	A	G	rs149149549		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:201798638A>G	ENST00000234296.2	-	10	1017	c.768T>C	c.(766-768)gaT>gaC	p.D256D		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	256					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGTGTTCTATCAGAGGTTA	0.353																																					p.D256D		Atlas-SNP	.											.	ORC2	48	.	0			c.T768C						.	A		0,4406		0,0,2203	105.0	108.0	107.0		768	-1.2	0.7	2	dbSNP_134	107	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ORC2	NM_006190.4		0,1,6501	GG,GA,AA		0.0116,0.0,0.0077		256/578	201798638	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	4999	exon10			TGTTCTATCAGAG		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.768T>C	chr2.hg19:g.201798638A>G		128.0	0.0		123.0	8.0	NM_006190	Q13204|Q53TX5	Silent	SNP	ENST00000234296.2	hg19	CCDS2334.1																																																																																			.	A|1.000;G|0.000		0.353	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	
C2orf80	389073	hgsc.bcm.edu	37	2	209045541	209045541	+	Splice_Site	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:209045541C>A	ENST00000341287.4	-	6	490		c.e6-1		C2orf80_ENST00000453017.1_Splice_Site|C2orf80_ENST00000451346.1_Splice_Site	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80											endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GGATACTGTTCTGTTAAACAA	0.368																																					.		Atlas-SNP	.											.	C2orf80	19	.	0			c.295-1G>T						.						94.0	87.0	89.0					2																	209045541		1815	4087	5902	SO:0001630	splice_region_variant	389073	exon7			ACTGTTCTGTTAA	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.295-1G>T	chr2.hg19:g.209045541C>A		267.0	0.0		270.0	56.0	NM_001099334	A6NKZ3	Splice_Site	SNP	ENST00000341287.4	hg19	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995358	0.54147	.	.	ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000428015;ENST00000453017;ENST00000423952	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2331	0.59955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf80	208753786	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.902000	0.56310	2.579000	0.87056	0.557000	0.71058	.	.	.		0.368	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334	Intron
ITM2C	81618	hgsc.bcm.edu	37	2	231742197	231742197	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:231742197G>A	ENST00000326427.6	+	5	770	c.644G>A	c.(643-645)gGg>gAg	p.G215E	ITM2C_ENST00000409704.2_Missense_Mutation_p.G153E|ITM2C_ENST00000335005.6_Missense_Mutation_p.G168E|ITM2C_ENST00000326407.6_Missense_Mutation_p.G178E	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	215	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GAGGCCCTGGGGTCCTTCATC	0.627																																					p.G215E		Atlas-SNP	.											.	ITM2C	17	.	0			c.G644A						.						112.0	105.0	107.0					2																	231742197		2203	4300	6503	SO:0001583	missense	81618	exon5			CCCTGGGGTCCTT	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.644G>A	chr2.hg19:g.231742197G>A	ENSP00000322730:p.Gly215Glu	192.0	0.0		200.0	11.0	NM_030926	B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	ENST00000326427.6	hg19	CCDS2479.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090283	0.94149	.	.	ENSG00000135916	ENST00000326427;ENST00000335005;ENST00000326407;ENST00000409704	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.22	5.22	0.72569	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.997	D	0.92316	0.5862	10	0.87932	D	0	-20.3815	14.3008	0.66352	0.0:0.0:1.0:0.0	.	178;168;215	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	E	215;168;178;153	ENSP00000322730:G215E;ENSP00000335121:G168E;ENSP00000322100:G178E;ENSP00000387242:G153E	ENSP00000322100:G178E	G	+	2	0	ITM2C	231450441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.304000	0.96190	2.437000	0.82529	0.655000	0.94253	GGG	.	.		0.627	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926	
CHRND	1144	hgsc.bcm.edu	37	2	233392134	233392134	+	Silent	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:233392134T>A	ENST00000258385.3	+	3	254	c.222T>A	c.(220-222)acT>acA	p.T74T	CHRND_ENST00000543200.1_Intron|CHRND_ENST00000536614.1_Silent_p.T74T|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	74					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AGACCCTCACTACCAATGTGT	0.537																																					p.T74T		Atlas-SNP	.											.	CHRND	67	.	0			c.T222A						.						145.0	128.0	134.0					2																	233392134		2203	4300	6503	SO:0001819	synonymous_variant	1144	exon3			CCTCACTACCAAT	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.222T>A	chr2.hg19:g.233392134T>A		107.0	0.0		118.0	50.0	NM_000751	A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	hg19	CCDS2494.1																																																																																			.	.		0.537	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
COL6A3	1293	hgsc.bcm.edu	37	2	238296564	238296564	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr2:238296564C>T	ENST00000295550.4	-	4	1425	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A325T|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.A119T|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A119T|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.A119T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	325	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A325T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATCAAGGGCGAGGCCGATA	0.617																																					p.A325T		Atlas-SNP	.											COL6A3,colon,carcinoma,0,1	COL6A3	608	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A						.						39.0	39.0	39.0					2																	238296564		2203	4300	6503	SO:0001583	missense	1293	exon4			CAAGGGCGAGGCC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.973G>A	chr2.hg19:g.238296564C>T	ENSP00000295550:p.Ala325Thr	224.0	0.0		202.0	10.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	hg19	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365615	0.61513	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.99483	-2.56;-2.56;-2.56;-2.56;-2.56;-5.99	5.17	5.17	0.71159	von Willebrand factor, type A (3);	0.000000	0.47093	U	0.000243	D	0.99701	0.9886	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.928;0.978;0.996	D	0.97467	1.0038	10	0.66056	D	0.02	.	18.7072	0.91643	0.0:1.0:0.0:0.0	.	325;119;119;325	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	325;119;119;325;119;325	ENSP00000295550:A325T;ENSP00000315873:A119T;ENSP00000386844:A119T;ENSP00000295546:A325T;ENSP00000375861:A119T;ENSP00000389539:A325T	ENSP00000295550:A325T	A	-	1	0	COL6A3	237961303	1.000000	0.71417	0.939000	0.37840	0.495000	0.33615	7.724000	0.84798	2.405000	0.81733	0.650000	0.86243	GCC	.	.		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
GLYCTK	132158	hgsc.bcm.edu	37	3	52324605	52324605	+	Silent	SNP	C	C	T	rs374934931		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr3:52324605C>T	ENST00000436784.2	+	2	307	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Silent_p.L83L|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Silent_p.L83L|GLYCTK_ENST00000354773.4_Silent_p.L83L|GLYCTK_ENST00000473032.1_Silent_p.L83L			Q8IVS8	GLCTK_HUMAN	glycerate kinase	83					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AAACCTCTACCTGGTGGGCTT	0.617																																					p.L83L		Atlas-SNP	.											.	GLYCTK	30	.	0			c.C247T						.	C	,	1,4405	2.1+/-5.4	0,1,2202	49.0	45.0	46.0		247,247	3.3	1.0	3		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GLYCTK	NM_001144951.1,NM_145262.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	83/235,83/524	52324605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	132158	exon2			CTCTACCTGGTGG		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.247C>T	chr3.hg19:g.52324605C>T		116.0	0.0		92.0	13.0	NM_001144951	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Silent	SNP	ENST00000436784.2	hg19	CCDS2852.1																																																																																			.	.		0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262	
SEMA3G	56920	hgsc.bcm.edu	37	3	52471666	52471666	+	Silent	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr3:52471666A>T	ENST00000231721.2	-	15	1754	c.1755T>A	c.(1753-1755)ctT>ctA	p.L585L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	585	Ig-like C2-type.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGGCTGCCACAAGTCCCACTG	0.617																																					p.L585L		Atlas-SNP	.											.	SEMA3G	58	.	0			c.T1755A						.						29.0	25.0	27.0					3																	52471666		2202	4293	6495	SO:0001819	synonymous_variant	56920	exon15			TGCCACAAGTCCC		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1755T>A	chr3.hg19:g.52471666A>T		149.0	0.0		147.0	41.0	NM_020163	Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	hg19	CCDS2856.1																																																																																			.	.		0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
GPR149	344758	hgsc.bcm.edu	37	3	154146848	154146848	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr3:154146848C>A	ENST00000389740.2	-	1	656	c.557G>T	c.(556-558)tGc>tTc	p.C186F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	186					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGCTGGAGCAGTCCACCAG	0.647																																					p.C186F		Atlas-SNP	.											GPR149,NS,carcinoma,0,1	GPR149	134	.	0			c.G557T						.						33.0	39.0	37.0					3																	154146848		2052	4196	6248	SO:0001583	missense	344758	exon1			CTGGAGCAGTCCA	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.557G>T	chr3.hg19:g.154146848C>A	ENSP00000374390:p.Cys186Phe	187.0	0.0		140.0	12.0	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	hg19	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836008	0.71373	.	.	ENSG00000174948	ENST00000389740	T	0.34859	1.34	5.41	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.248609	0.47093	D	0.000251	T	0.43831	0.1265	M	0.81112	2.525	0.38092	D	0.936994	P	0.42941	0.794	B	0.42163	0.378	T	0.54820	-0.8236	10	0.48119	T	0.1	-8.4775	12.8223	0.57700	0.0:0.8669:0.0:0.1331	.	186	Q86SP6	GP149_HUMAN	F	186	ENSP00000374390:C186F	ENSP00000374390:C186F	C	-	2	0	GPR149	155629542	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	3.338000	0.52128	2.541000	0.85698	0.655000	0.94253	TGC	.	.		0.647	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
TTC14	151613	hgsc.bcm.edu	37	3	180320103	180320103	+	Silent	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr3:180320103C>T	ENST00000296015.4	+	1	186	c.54C>T	c.(52-54)ctC>ctT	p.L18L	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Silent_p.L18L|TTC14_ENST00000412756.2_Silent_p.L18L	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	18							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CGTCTTTGCTCTCTCTACTTC	0.657																																					p.L18L		Atlas-SNP	.											.	TTC14	112	.	0			c.C54T						.						61.0	58.0	59.0					3																	180320103		2203	4300	6503	SO:0001819	synonymous_variant	151613	exon1			TTTGCTCTCTCTA	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.54C>T	chr3.hg19:g.180320103C>T		40.0	0.0		55.0	9.0	NM_001042601	G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	hg19	CCDS3237.1																																																																																			.	.		0.657	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
OPA1	4976	hgsc.bcm.edu	37	3	193376712	193376712	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr3:193376712A>T	ENST00000392438.3	+	22	2437	c.2203A>T	c.(2203-2205)Ata>Tta	p.I735L	OPA1_ENST00000361828.2_Missense_Mutation_p.I753L|OPA1_ENST00000361150.2_Missense_Mutation_p.I736L|OPA1_ENST00000361908.3_Missense_Mutation_p.I772L|OPA1_ENST00000361510.2_Missense_Mutation_p.I790L|OPA1_ENST00000361715.2_Missense_Mutation_p.I754L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	735					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGACCGATCCATATCTGATAA	0.378																																					p.I790L		Atlas-SNP	.											.	OPA1	79	.	0			c.A2368T						.						130.0	127.0	128.0					3																	193376712		2203	4300	6503	SO:0001583	missense	4976	exon24			CGATCCATATCTG	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2203A>T	chr3.hg19:g.193376712A>T	ENSP00000376233:p.Ile735Leu	97.0	0.0		110.0	33.0	NM_130837	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	hg19	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.780620	0.90195	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96011	-3.46;-3.49;-3.44;-3.44;-3.47;-3.88	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	M	0.64997	1.995	0.80722	D	1	P;P;P;P;P;P;D;P	0.53745	0.879;0.787;0.879;0.879;0.825;0.879;0.962;0.931	P;B;P;P;B;P;P;P	0.55965	0.688;0.322;0.688;0.688;0.397;0.688;0.788;0.688	D	0.96547	0.9405	10	0.62326	D	0.03	-23.7307	15.4968	0.75658	1.0:0.0:0.0:0.0	.	699;735;717;736;753;772;754;790	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	L	772;735;790;754;753;736	ENSP00000354681:I772L;ENSP00000376233:I735L;ENSP00000355324:I790L;ENSP00000355311:I754L;ENSP00000354429:I753L;ENSP00000354781:I736L	ENSP00000354781:I736L	I	+	1	0	OPA1	194859406	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.245000	0.73994	0.455000	0.32223	ATA	.	.		0.378	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
TNIP2	79155	hgsc.bcm.edu	37	4	2746185	2746185	+	Missense_Mutation	SNP	G	G	A	rs145123249	byFrequency	TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr4:2746185G>A	ENST00000315423.7	-	5	1041	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TNIP2_ENST00000510267.1_Missense_Mutation_p.R212W|TNIP2_ENST00000503235.1_Missense_Mutation_p.R236W|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTTGAGCCCGTTCCCGATCG	0.522																																					p.R319W		Atlas-SNP	.											.	TNIP2	28	.	0			c.C955T						.						145.0	146.0	146.0					4																	2746185		2203	4300	6503	SO:0001583	missense	79155	exon5			GAGCCCGTTCCCG	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.955C>T	chr4.hg19:g.2746185G>A	ENSP00000321203:p.Arg319Trp	116.0	0.0		93.0	7.0	NM_024309		Missense_Mutation	SNP	ENST00000315423.7	hg19	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416137	0.83449	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.45276	0.9;0.9;0.9	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.85777	2.775	0.38741	D	0.953885	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74124	-0.3766	10	0.72032	D	0.01	-46.7578	14.0902	0.64984	0.0:0.0:0.8497:0.1503	.	236;319	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	W	212;319;236	ENSP00000427613:R212W;ENSP00000321203:R319W;ENSP00000426314:R236W	ENSP00000321203:R319W	R	-	1	2	TNIP2	2715983	1.000000	0.71417	0.972000	0.41901	0.979000	0.70002	3.483000	0.53194	2.791000	0.96007	0.561000	0.74099	CGG	.	G|1.000;T|0.000		0.522	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
NPFFR2	10886	hgsc.bcm.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	A	rs200084669		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr4:72897911G>A	ENST00000308744.6	+	1	391	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622																																					p.R98Q		Atlas-SNP	.											NPFFR2,NS,carcinoma,0,1	NPFFR2	98	.	2	Substitution - Missense(2)	lung(2)	c.G293A						.						24.0	29.0	27.0					4																	72897911		2203	4300	6503	SO:0001583	missense	10886	exon1			CTCGCCGGGAGAG	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.293G>A	chr4.hg19:g.72897911G>A	ENSP00000307822:p.Arg98Gln	331.0	2.0		236.0	19.0	NM_004885	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	hg19	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588512	0.28357	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.76968	-1.06	2.81	-2.9	0.05648	.	.	.	.	.	T	0.47875	0.1469	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	9	0.18710	T	0.47	.	0.3949	0.00417	0.2974:0.1979:0.3078:0.1969	.	98	Q9Y5X5	NPFF2_HUMAN	Q	98	ENSP00000307822:R98Q	ENSP00000307822:R98Q	R	+	2	0	NPFFR2	73116775	0.000000	0.05858	0.000000	0.03702	0.301000	0.27625	-3.211000	0.00556	-0.602000	0.05775	-0.802000	0.03209	CGG	.	G|1.000;C|0.000		0.622	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
PDLIM5	10611	hgsc.bcm.edu	37	4	95583576	95583576	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr4:95583576A>G	ENST00000317968.4	+	12	1725	c.1589A>G	c.(1588-1590)tAt>tGt	p.Y530C	PDLIM5_ENST00000437932.1_Missense_Mutation_p.Y421C|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.Y559C|PDLIM5_ENST00000542407.1_Missense_Mutation_p.Y408C	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	530	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AATACAGATTATTATGCCCTC	0.418																																					p.Y559C		Atlas-SNP	.											.	PDLIM5	76	.	0			c.A1676G						.						128.0	119.0	122.0					4																	95583576		2203	4300	6503	SO:0001583	missense	10611	exon16			CAGATTATTATGC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1589A>G	chr4.hg19:g.95583576A>G	ENSP00000321746:p.Tyr530Cys	56.0	0.0		50.0	10.0	NM_001256426	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	hg19	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640359	0.67244	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.61	5.61	0.85477	Zinc finger, LIM-type (3);	0.131094	0.52532	D	0.000066	D	0.97247	0.9100	M	0.89601	3.045	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.999;0.996	D	0.98111	1.0420	10	0.87932	D	0	.	15.8142	0.78586	1.0:0.0:0.0:0.0	.	427;559;530;421	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	C	421;530;427;408;559	ENSP00000398469:Y421C;ENSP00000321746:Y530C;ENSP00000424297:Y427C;ENSP00000442187:Y408C;ENSP00000424360:Y559C	ENSP00000321746:Y530C	Y	+	2	0	PDLIM5	95802599	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	3.187000	0.50950	2.143000	0.66587	0.533000	0.62120	TAT	.	.		0.418	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
EGF	1950	hgsc.bcm.edu	37	4	110865040	110865040	+	Silent	SNP	A	A	G	rs369090159		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr4:110865040A>G	ENST00000265171.5	+	4	997	c.552A>G	c.(550-552)agA>agG	p.R184R	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Silent_p.R184R|EGF_ENST00000509793.1_Silent_p.R184R	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	184					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GCCTTTATAGAGCAGATCTCG	0.433																																					p.R184R		Atlas-SNP	.											.	EGF	113	.	0			c.A552G						.	A	,,	0,4406		0,0,2203	158.0	151.0	153.0		552,552,552	0.6	1.0	4		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,	184/1167,184/1166,184/1208	110865040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1950	exon4			TTATAGAGCAGAT	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.552A>G	chr4.hg19:g.110865040A>G		188.0	0.0		193.0	34.0	NM_001963	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	hg19	CCDS3689.1																																																																																			.	.		0.433	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
PLRG1	5356	hgsc.bcm.edu	37	4	155462030	155462030	+	Silent	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr4:155462030A>G	ENST00000499023.2	-	9	870	c.744T>C	c.(742-744)acT>acC	p.T248T	PLRG1_ENST00000302078.5_Silent_p.T239T|PLRG1_ENST00000393905.2_Silent_p.T248T	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	248					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CGCCCCGCACAGTACTAATAT	0.403																																					p.T248T		Atlas-SNP	.											.	PLRG1	43	.	0			c.T744C						.						100.0	101.0	100.0					4																	155462030		2203	4300	6503	SO:0001819	synonymous_variant	5356	exon9			CCGCACAGTACTA	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.744T>C	chr4.hg19:g.155462030A>G		178.0	0.0		152.0	26.0	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	hg19	CCDS34083.1																																																																																			.	.		0.403	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
CDH18	1016	hgsc.bcm.edu	37	5	19473363	19473363	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:19473363C>A	ENST00000507958.1	-	15	3335	c.2345G>T	c.(2344-2346)gGa>gTa	p.G782V	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.G782V|CDH18_ENST00000382275.1_Missense_Mutation_p.G782V			Q13634	CAD18_HUMAN	cadherin 18, type 2	782					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCTATTTCTCCATAGAGTTC	0.438																																					p.G782V		Atlas-SNP	.											.	CDH18	561	.	0			c.G2345T						.						81.0	85.0	84.0					5																	19473363		2203	4300	6503	SO:0001583	missense	1016	exon13			ATTTCTCCATAGA	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2345G>T	chr5.hg19:g.19473363C>A	ENSP00000425093:p.Gly782Val	177.0	0.0		165.0	22.0	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	hg19	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817622	0.70912	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.79033	-1.23;-1.23;-1.23	5.21	5.21	0.72293	Cadherin, cytoplasmic domain (1);	0.058874	0.64402	D	0.000002	D	0.89719	0.6796	M	0.89214	3.015	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.91009	0.4848	9	.	.	.	.	17.6979	0.88286	0.0:1.0:0.0:0.0	.	782	Q13634	CAD18_HUMAN	V	782	ENSP00000371710:G782V;ENSP00000425093:G782V;ENSP00000274170:G782V	.	G	-	2	0	CDH18	19509120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.566000	0.53805	2.600000	0.87896	0.655000	0.94253	GGA	.	.		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
NIPBL	25836	hgsc.bcm.edu	37	5	37048674	37048674	+	Silent	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:37048674A>G	ENST00000282516.8	+	39	7159	c.6660A>G	c.(6658-6660)ttA>ttG	p.L2220L	NIPBL_ENST00000448238.2_Silent_p.L2220L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2220					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATAATATTTTATCTGATAAGA	0.353																																					p.L2220L		Atlas-SNP	.											.	NIPBL	513	.	0			c.A6660G						.						37.0	44.0	42.0					5																	37048674		2180	4279	6459	SO:0001819	synonymous_variant	25836	exon39			TATTTTATCTGAT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6660A>G	chr5.hg19:g.37048674A>G		551.0	0.0		535.0	118.0	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	hg19	CCDS3920.1																																																																																			.	.		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
BDP1	55814	hgsc.bcm.edu	37	5	70806321	70806321	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:70806321G>A	ENST00000358731.4	+	17	3665	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1134	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CACCAGAGGTGATTGATGCCA	0.468																																					p.V1134V		Atlas-SNP	.											.	BDP1	204	.	0			c.G3402A						.						82.0	81.0	81.0					5																	70806321		1816	4084	5900	SO:0001819	synonymous_variant	55814	exon17			AGAGGTGATTGAT	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3402G>A	chr5.hg19:g.70806321G>A		242.0	0.0		243.0	58.0	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	hg19	CCDS43328.1																																																																																			.	.		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
TENM2	57451	hgsc.bcm.edu	37	5	167689579	167689579	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:167689579G>A	ENST00000518659.1	+	29	8128	c.8089G>A	c.(8089-8091)Gac>Aac	p.D2697N	TENM2_ENST00000520394.1_Missense_Mutation_p.D2458N|TENM2_ENST00000545108.1_Missense_Mutation_p.D2696N|TENM2_ENST00000403607.2_Missense_Mutation_p.D2521N|TENM2_ENST00000519204.1_Missense_Mutation_p.D2576N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2697					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCGCGTCCTGGACCAGGCGAG	0.647																																					p.D2688N		Atlas-SNP	.											.	.	.	.	0			c.G8062A						.						11.0	12.0	12.0					5																	167689579		1998	4159	6157	SO:0001583	missense	57451	exon29			GTCCTGGACCAGG	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8089G>A	chr5.hg19:g.167689579G>A	ENSP00000429430:p.Asp2697Asn	156.0	0.0		134.0	14.0	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.5	4.536592	0.85812	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89050	-1.99;-1.98;-2.09;-2.45;-2.46	5.14	5.14	0.70334	.	0.131315	0.64402	D	0.000002	D	0.88713	0.6511	L	0.29908	0.895	0.80722	D	1	P;P;P	0.44521	0.837;0.749;0.557	P;B;B	0.50314	0.637;0.248;0.12	D	0.90075	0.4166	10	0.72032	D	0.01	.	18.9479	0.92628	0.0:0.0:1.0:0.0	.	2696;2697;2458	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	2697;2696;2576;2458;2521	ENSP00000429430:D2697N;ENSP00000438635:D2696N;ENSP00000428964:D2576N;ENSP00000427874:D2458N;ENSP00000384905:D2521N	ENSP00000384905:D2521N	D	+	1	0	ODZ2	167622157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.809000	0.99208	2.549000	0.85964	0.561000	0.74099	GAC	.	.		0.647	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
SH3PXD2B	285590	hgsc.bcm.edu	37	5	171766062	171766062	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:171766062C>A	ENST00000311601.5	-	13	2217	c.2047G>T	c.(2047-2049)Ggg>Tgg	p.G683W	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	683					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCCCTCCCCATCCAACAAG	0.637																																					p.G683W		Atlas-SNP	.											.	SH3PXD2B	91	.	0			c.G2047T						.						65.0	62.0	63.0					5																	171766062		2203	4300	6503	SO:0001583	missense	285590	exon13			CCTCCCCATCCAA	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2047G>T	chr5.hg19:g.171766062C>A	ENSP00000309714:p.Gly683Trp	97.0	0.0		90.0	13.0	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	hg19	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930625	0.34096	.	.	ENSG00000174705	ENST00000311601	T	0.60920	0.15	5.47	4.61	0.57282	.	0.534146	0.20054	N	0.100234	T	0.54919	0.1888	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.55713	0.782	T	0.47032	-0.9148	9	.	.	.	-17.9254	11.9575	0.52988	0.0:0.9155:0.0:0.0845	.	683	A1X283	SPD2B_HUMAN	W	683	ENSP00000309714:G683W	.	G	-	1	0	SH3PXD2B	171698667	0.366000	0.25014	0.112000	0.21494	0.397000	0.30659	2.591000	0.46163	1.311000	0.45024	0.561000	0.74099	GGG	.	.		0.637	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
HK3	3101	hgsc.bcm.edu	37	5	176310869	176310869	+	Splice_Site	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr5:176310869G>A	ENST00000292432.5	-	15	2046	c.1955C>T	c.(1954-1956)gCa>gTa	p.A652V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	652	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)			CAGCTCCACTGCCTGCACACA	0.587																																					p.A652V		Atlas-SNP	.											.	HK3	210	.	0			c.C1955T						.						188.0	145.0	159.0					5																	176310869		2203	4300	6503	SO:0001630	splice_region_variant	3101	exon15			TCCACTGCCTGCA		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.1954-1C>T	chr5.hg19:g.176310869G>A		85.0	0.0		103.0	20.0	NM_002115	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	hg19	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728878	0.48833	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.98207	-4.79;-4.79	5.13	-0.494	0.12034	Hexokinase, N-terminal (1);	0.605120	0.14798	N	0.297838	D	0.91418	0.7292	N	0.01874	-0.695	0.37154	D	0.902298	B	0.26041	0.14	B	0.25506	0.061	D	0.84835	0.0804	10	0.87932	D	0	-0.6024	9.652	0.39904	0.0:0.4675:0.2091:0.3235	.	652	P52790	HXK3_HUMAN	V	652;33	ENSP00000292432:A652V;ENSP00000424632:A33V	ENSP00000292432:A652V	A	-	2	0	HK3	176243475	1.000000	0.71417	0.869000	0.34112	0.873000	0.50193	2.578000	0.46051	0.009000	0.14813	0.462000	0.41574	GCA	.	.		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		Missense_Mutation
KIAA0319	9856	hgsc.bcm.edu	37	6	24566957	24566957	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:24566957T>A	ENST00000378214.3	-	14	2684	c.2160A>T	c.(2158-2160)agA>agT	p.R720S	KIAA0319_ENST00000430948.2_Missense_Mutation_p.R675S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R720S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R720S|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R711S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	720	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCCCGGGCTCTGGGAGGAC	0.383																																					p.R720S		Atlas-SNP	.											.	KIAA0319	117	.	0			c.A2160T						.						73.0	79.0	77.0					6																	24566957		2203	4300	6503	SO:0001583	missense	9856	exon14			CCGGGCTCTGGGA	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2160A>T	chr6.hg19:g.24566957T>A	ENSP00000367459:p.Arg720Ser	70.0	0.0		70.0	12.0	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	hg19	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958214	0.53400	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.231080	0.36628	N	0.002486	T	0.12050	0.0293	L	0.41573	1.285	0.42507	D	0.992951	D;D;D	0.71674	0.998;0.972;0.978	D;P;P	0.63381	0.914;0.742;0.832	T	0.02942	-1.1091	10	0.45353	T	0.12	-15.4993	6.2059	0.20602	0.0:0.1584:0.0:0.8416	.	720;711;720	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	S	720;711;675;720;720	ENSP00000439700:R720S;ENSP00000442403:R711S;ENSP00000401086:R675S;ENSP00000367459:R720S;ENSP00000437656:R720S	ENSP00000367459:R720S	R	-	3	2	KIAA0319	24674936	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	1.524000	0.35942	1.671000	0.50874	0.482000	0.46254	AGA	.	.		0.383	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
BTN3A3	10384	hgsc.bcm.edu	37	6	26452498	26452498	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:26452498G>A	ENST00000244519.2	+	11	1857	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	BTN3A3_ENST00000339789.4_Silent_p.P496P|BTN3A3_ENST00000361232.3_Silent_p.P489P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	538					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CACTGACCCCGGGCTTAGCTA	0.552																																					p.P538P		Atlas-SNP	.											.	BTN3A3	56	.	0			c.G1614A						.						48.0	47.0	47.0					6																	26452498		2203	4300	6503	SO:0001819	synonymous_variant	10384	exon11			GACCCCGGGCTTA	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1614G>A	chr6.hg19:g.26452498G>A		80.0	0.0		65.0	11.0	NM_006994	B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	hg19	CCDS4611.1																																																																																			.	.		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
OR14J1	442191	hgsc.bcm.edu	37	6	29274701	29274701	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:29274701T>C	ENST00000377160.2	+	1	299	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGTCCCCCAGTCCATTGCAAA	0.463																																					p.S79P		Atlas-SNP	.											.	OR14J1	43	.	0			c.T235C						.						268.0	302.0	290.0					6																	29274701		1510	2709	4219	SO:0001583	missense	442191	exon1			CCCCAGTCCATTG		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.235T>C	chr6.hg19:g.29274701T>C	ENSP00000366365:p.Ser79Pro	149.0	0.0		149.0	25.0	NM_030946	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	hg19	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599013	0.46318	.	.	ENSG00000204695	ENST00000377160	T	0.03035	4.07	4.86	-1.13	0.09775	GPCR, rhodopsin-like superfamily (1);	0.536779	0.15489	N	0.259698	T	0.03136	0.0092	L	0.59436	1.845	0.09310	N	1	D	0.64830	0.994	P	0.60682	0.878	T	0.35301	-0.9794	10	0.59425	D	0.04	.	2.1407	0.03774	0.3596:0.0774:0.3414:0.2216	.	79	Q9UGF5	O14J1_HUMAN	P	79	ENSP00000366365:S79P	ENSP00000366365:S79P	S	+	1	0	OR14J1	29382680	0.000000	0.05858	0.694000	0.30210	0.666000	0.39218	-1.371000	0.02573	0.041000	0.15688	0.528000	0.53228	TCC	.	.		0.463	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2		
NOTCH4	4855	hgsc.bcm.edu	37	6	32182001	32182001	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:32182001C>A	ENST00000375023.3	-	13	2191	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	685	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACTCTGGCCCCGTCCAACCC	0.597																																					p.G685W		Atlas-SNP	.											.	NOTCH4	201	.	0			c.G2053T						.						111.0	112.0	112.0					6																	32182001		2203	4300	6503	SO:0001583	missense	4855	exon13			CTGGCCCCGTCCA		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2053G>T	chr6.hg19:g.32182001C>A	ENSP00000364163:p.Gly685Trp	135.0	0.0		134.0	23.0	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	hg19	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133188	0.56828	.	.	ENSG00000204301	ENST00000375023	T	0.76709	-1.04	4.18	4.18	0.49190	EGF-like region, conserved site (2);	0.000000	0.42548	D	0.000688	D	0.92417	0.7593	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95057	0.8192	10	0.87932	D	0	.	14.0247	0.64580	0.0:1.0:0.0:0.0	.	685	Q99466	NOTC4_HUMAN	W	685	ENSP00000364163:G685W	ENSP00000364163:G685W	G	-	1	0	NOTCH4	32289979	1.000000	0.71417	0.995000	0.50966	0.346000	0.29079	6.145000	0.71769	2.169000	0.68431	0.561000	0.74099	GGG	.	.		0.597	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
PTCHD4	442213	hgsc.bcm.edu	37	6	47846992	47846992	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:47846992A>G	ENST00000339488.4	-	3	1621	c.1588T>C	c.(1588-1590)Tgg>Cgg	p.W530R		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	530						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGCTGTTCCAGTACTCTAGG	0.483																																					p.W530R		Atlas-SNP	.											.	.	.	.	0			c.T1588C						.						54.0	48.0	50.0					6																	47846992		2203	4300	6503	SO:0001583	missense	442213	exon3			TGTTCCAGTACTC		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1588T>C	chr6.hg19:g.47846992A>G	ENSP00000341914:p.Trp530Arg	63.0	0.0		57.0	7.0	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	hg19	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247675	0.39697	.	.	ENSG00000244694	ENST00000339488	D	0.84516	-1.86	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	M	0.71036	2.16	0.80722	D	1	D	0.64830	0.994	D	0.74674	0.984	D	0.86550	0.1834	10	0.21540	T	0.41	.	15.5578	0.76213	1.0:0.0:0.0:0.0	.	530	Q6ZW05	CF138_HUMAN	R	530	ENSP00000341914:W530R	ENSP00000341914:W530R	W	-	1	0	C6orf138	47954951	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.095000	0.63458	0.528000	0.53228	TGG	.	.		0.483	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
SLC2A12	154091	hgsc.bcm.edu	37	6	134323190	134323190	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:134323190T>G	ENST00000275230.5	-	4	1800	c.1645A>C	c.(1645-1647)Ata>Cta	p.I549L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	549					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTCTCAGGTATAAACATAACA	0.358																																					p.I549L	Melanoma(122;1663 1672 14489 35294 41228)	Atlas-SNP	.											.	SLC2A12	43	.	0			c.A1645C						.						113.0	106.0	108.0					6																	134323190		2203	4300	6503	SO:0001583	missense	154091	exon4			CAGGTATAAACAT	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1645A>C	chr6.hg19:g.134323190T>G	ENSP00000275230:p.Ile549Leu	81.0	0.0		83.0	14.0	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	hg19	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628339	0.46944	.	.	ENSG00000146411	ENST00000275230	T	0.72505	-0.66	5.78	5.78	0.91487	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173351	0.51477	D	0.000095	T	0.28034	0.0691	N	0.02697	-0.525	0.36594	D	0.874266	B	0.02656	0.0	B	0.04013	0.001	T	0.19910	-1.0291	10	0.30854	T	0.27	-9.9787	10.4905	0.44748	0.0:0.072:0.0:0.928	.	549	Q8TD20	GTR12_HUMAN	L	549	ENSP00000275230:I549L	ENSP00000275230:I549L	I	-	1	0	SLC2A12	134364883	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.460000	0.53028	2.209000	0.71365	0.524000	0.50904	ATA	.	.		0.358	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
PACRG	135138	hgsc.bcm.edu	37	6	163735950	163735950	+	Silent	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:163735950C>T	ENST00000337019.3	+	7	1046	c.822C>T	c.(820-822)taC>taT	p.Y274Y	PACRG_ENST00000366889.2_Silent_p.Y235Y|PACRG_ENST00000366888.2_Silent_p.Y235Y	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	274					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCGAGCGCTACGGAGGAGAAA	0.522																																					p.Y274Y		Atlas-SNP	.											.	PACRG	48	.	0			c.C822T						.						155.0	138.0	144.0					6																	163735950		2203	4300	6503	SO:0001819	synonymous_variant	135138	exon7			GCGCTACGGAGGA	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.822C>T	chr6.hg19:g.163735950C>T		256.0	0.0		278.0	62.0	NM_152410	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	hg19	CCDS5284.1																																																																																			.	.		0.522	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
HOXA6	3203	hgsc.bcm.edu	37	7	27187096	27187096	+	Silent	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr7:27187096C>A	ENST00000222728.3	-	1	297	c.273G>T	c.(271-273)tcG>tcT	p.S91S	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	91					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TGCCACTGCCCGAGGGCGAGG	0.627																																					p.S91S		Atlas-SNP	.											.	HOXA6	25	.	0			c.G273T						.						43.0	45.0	44.0					7																	27187096		2203	4300	6503	SO:0001819	synonymous_variant	3203	exon1			ACTGCCCGAGGGC		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.273G>T	chr7.hg19:g.27187096C>A		142.0	0.0		111.0	25.0	NM_024014	A4D192|Q2M3G3|Q9UPM0	Silent	SNP	ENST00000222728.3	hg19	CCDS5407.1																																																																																			.	.		0.627	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
ABCB1	5243	hgsc.bcm.edu	37	7	87179184	87179184	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr7:87179184T>A	ENST00000265724.3	-	14	1954	c.1537A>T	c.(1537-1539)Atc>Ttc	p.I513F	ABCB1_ENST00000543898.1_Missense_Mutation_p.I449F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	513	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)	AGTTTCATGATAAAGTCATAG	0.428																																					p.I513F		Atlas-SNP	.											.	ABCB1	263	.	0			c.A1537T						.						239.0	226.0	230.0					7																	87179184		2203	4300	6503	SO:0001583	missense	5243	exon14			TCATGATAAAGTC	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.1537A>T	chr7.hg19:g.87179184T>A	ENSP00000265724:p.Ile513Phe	111.0	0.0		81.0	16.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555663	0.86231	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.85556	-2.0;-2.0	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72982	0.94;0.979	D	0.92195	0.5763	10	0.87932	D	0	-24.2602	16.5494	0.84464	0.0:0.0:0.0:1.0	.	449;513	B5AK60;P08183	.;MDR1_HUMAN	F	294;513;449	ENSP00000265724:I513F;ENSP00000444095:I449F	ENSP00000265724:I513F	I	-	1	0	ABCB1	87017120	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.278000	0.72614	2.299000	0.77371	0.528000	0.53228	ATC	.	.		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
PLXNA4	91584	hgsc.bcm.edu	37	7	132192559	132192559	+	Silent	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr7:132192559A>T	ENST00000359827.3	-	2	1856	c.894T>A	c.(892-894)atT>atA	p.I298I	PLXNA4_ENST00000321063.4_Silent_p.I298I|PLXNA4_ENST00000378539.5_Silent_p.I298I|PLXNA4_ENST00000423507.2_Silent_p.I298I			Q9HCM2	PLXA4_HUMAN	plexin A4	298	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCACAGCCAATGGGCACCT	0.602																																					p.I298I		Atlas-SNP	.											.	PLXNA4	873	.	0			c.T894A						.						62.0	45.0	51.0					7																	132192559		2203	4300	6503	SO:0001819	synonymous_variant	91584	exon2			ACAGCCAATGGGC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.894T>A	chr7.hg19:g.132192559A>T		105.0	0.0		90.0	11.0	NM_001105543	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	hg19	CCDS43646.1																																																																																			.	.		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CSMD1	64478	hgsc.bcm.edu	37	8	2800024	2800024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:2800024G>T	ENST00000520002.1	-	70	11063	c.10508C>A	c.(10507-10509)tCa>tAa	p.S3503*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S3326*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S3325*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3502*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S3326*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S3503*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3503						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAAACCCTGATAAAATTAG	0.443																																					p.S3502X		Atlas-SNP	.											CSMD1_ENST00000537824,NS,malignant_melanoma,0,4	CSMD1	1469	.	0			c.C10505A						.						52.0	51.0	52.0					8																	2800024		1873	4101	5974	SO:0001587	stop_gained	64478	exon69			AACCCTGATAAAA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10508C>A	chr8.hg19:g.2800024G>T	ENSP00000430733:p.Ser3503*	109.0	0.0		77.0	18.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	G	53	20.696699	0.99933	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.7559	0.96291	0.0:0.0:1.0:0.0	.	.	.	.	X	3326;3503;3364;3502;3325	.	ENSP00000320445:S3364X	S	-	2	0	CSMD1	2787431	1.000000	0.71417	0.918000	0.36340	0.982000	0.71751	9.532000	0.98057	2.661000	0.90470	0.643000	0.83706	TCA	.	.		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
DLC1	10395	hgsc.bcm.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																					p.S741T		Atlas-SNP	.											DLC1,bladder,carcinoma,0,3	DLC1	411	.	0			c.G2222C						.						56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395	exon9			CTGCTGCTGGTCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	chr8.hg19:g.12957624C>G	ENSP00000276297:p.Ser741Thr	51.0	2.0		39.0	3.0	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	hg19	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC	.	.		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
KAT6A	7994	hgsc.bcm.edu	37	8	41805294	41805294	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:41805294C>A	ENST00000396930.3	-	12	2420	c.1877G>T	c.(1876-1878)tGc>tTc	p.C626F	KAT6A_ENST00000406337.1_Missense_Mutation_p.C626F|KAT6A_ENST00000485568.1_Missense_Mutation_p.C626F|KAT6A_ENST00000265713.2_Missense_Mutation_p.C626F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	626	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AACAAGGTGGCAGCCCTTGAC	0.393																																					p.C626F		Atlas-SNP	.											.	.	.	.	0			c.G1877T						.						72.0	68.0	70.0					8																	41805294		2203	4300	6503	SO:0001583	missense	7994	exon12			AGGTGGCAGCCCT	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1877G>T	chr8.hg19:g.41805294C>A	ENSP00000380136:p.Cys626Phe	189.0	0.0		157.0	20.0	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516568	0.44763	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84730	0.13;0.13;0.13;-1.89	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90836	0.4720	10	0.56958	D	0.05	-16.0217	19.1789	0.93614	0.0:1.0:0.0:0.0	.	626;626	A5PLL3;Q92794	.;KAT6A_HUMAN	F	626;626;626;206;626	ENSP00000265713:C626F;ENSP00000385888:C626F;ENSP00000380136:C626F;ENSP00000430606:C626F	ENSP00000265713:C626F	C	-	2	0	KAT6A	41924451	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.773000	0.85462	2.530000	0.85305	0.655000	0.94253	TGC	.	.		0.393	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PPP1R42	286187	hgsc.bcm.edu	37	8	67929857	67929857	+	Silent	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:67929857T>C	ENST00000324682.5	-	2	270	c.126A>G	c.(124-126)gcA>gcG	p.A42A	PPP1R42_ENST00000522909.1_Silent_p.A42A|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	42					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TTCTTACAATTGCATCTATAT	0.264																																					p.A42A		Atlas-SNP	.											.	PPP1R42	2	.	0			c.A126G						.						34.0	32.0	32.0					8																	67929857		2189	4274	6463	SO:0001819	synonymous_variant	286187	exon2			TACAATTGCATCT	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.126A>G	chr8.hg19:g.67929857T>C		79.0	0.0		122.0	6.0	NM_001013626		Silent	SNP	ENST00000324682.5	hg19	CCDS34902.1																																																																																			.	.		0.264	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626	
C8orf76	84933	hgsc.bcm.edu	37	8	124253528	124253528	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:124253528C>A	ENST00000276704.4	-	1	110	c.59G>T	c.(58-60)aGg>aTg	p.R20M	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	20										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGCTCCGGCCTCTCCTCGAA	0.721																																					p.R20M		Atlas-SNP	.											.	C8orf76	26	.	0			c.G59T						.						10.0	12.0	11.0					8																	124253528		2150	4247	6397	SO:0001583	missense	84933	exon1			TCCGGCCTCTCCT	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.59G>T	chr8.hg19:g.124253528C>A	ENSP00000276704:p.Arg20Met	201.0	0.0		353.0	137.0	NM_032847	Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	hg19	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676108	0.29783	.	.	ENSG00000189376	ENST00000276704	T	0.25912	1.77	5.68	2.92	0.33932	.	0.873937	0.10119	N	0.713701	T	0.28797	0.0714	L	0.60455	1.87	0.19945	N	0.999943	P	0.37276	0.589	B	0.39379	0.298	T	0.14615	-1.0466	10	0.49607	T	0.09	-0.0046	9.056	0.36405	0.0:0.7666:0.0:0.2334	.	20	Q96K31	CH076_HUMAN	M	20	ENSP00000276704:R20M	ENSP00000276704:R20M	R	-	2	0	C8orf76	124322709	0.238000	0.23825	0.010000	0.14722	0.229000	0.25112	1.216000	0.32443	0.336000	0.23639	-0.254000	0.11334	AGG	.	.		0.721	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847	
FER1L6	654463	hgsc.bcm.edu	37	8	125076745	125076745	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:125076745C>G	ENST00000522917.1	+	26	3692	c.3486C>G	c.(3484-3486)gaC>gaG	p.D1162E	FER1L6_ENST00000399018.1_Missense_Mutation_p.D1162E|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1162						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACGTCCCTGACTCATCCCCGA	0.542																																					p.D1162E		Atlas-SNP	.											.	FER1L6	268	.	0			c.C3486G						.						68.0	73.0	71.0					8																	125076745		1996	4176	6172	SO:0001583	missense	654463	exon26			CCCTGACTCATCC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3486C>G	chr8.hg19:g.125076745C>G	ENSP00000428280:p.Asp1162Glu	193.0	0.0		317.0	28.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	0.370	-0.934324	0.02340	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80994	-1.44;-1.44	4.99	0.928	0.19443	.	1.362050	0.05001	U	0.469070	T	0.70055	0.3180	L	0.47716	1.5	0.36268	D	0.854972	B	0.29716	0.255	B	0.26614	0.071	T	0.58142	-0.7688	10	0.15066	T	0.55	-2.9503	3.22	0.06712	0.1856:0.5125:0.0:0.3019	.	1162	Q2WGJ9	FR1L6_HUMAN	E	1162	ENSP00000428280:D1162E;ENSP00000381982:D1162E	ENSP00000381982:D1162E	D	+	3	2	FER1L6	125145926	0.788000	0.28762	0.980000	0.43619	0.377000	0.30045	-0.437000	0.06914	0.163000	0.19507	0.462000	0.41574	GAC	.	.		0.542	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
ADCY8	114	hgsc.bcm.edu	37	8	132052123	132052123	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:132052123T>A	ENST00000286355.5	-	1	2549	c.457A>T	c.(457-459)Att>Ttt	p.I153F	ADCY8_ENST00000377928.3_Missense_Mutation_p.I153F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	153					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGGGGAAAATGACCCCTCGG	0.567										HNSCC(32;0.087)																											p.I153F		Atlas-SNP	.											.	ADCY8	291	.	0			c.A457T						.						43.0	41.0	42.0					8																	132052123		2203	4300	6503	SO:0001583	missense	114	exon1			GGAAAATGACCCC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.457A>T	chr8.hg19:g.132052123T>A	ENSP00000286355:p.Ile153Phe	140.0	0.0		195.0	19.0	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	hg19	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330990	0.24167	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.64618	-0.11;-0.11	5.26	5.26	0.73747	.	0.137925	0.47852	D	0.000216	T	0.42877	0.1222	N	0.16790	0.44	0.41965	D	0.990723	B;B	0.25667	0.131;0.131	B;B	0.16722	0.016;0.016	T	0.37267	-0.9713	10	0.09843	T	0.71	.	14.3502	0.66697	0.0:0.0:0.0:1.0	.	153;153	E7EVL1;P40145	.;ADCY8_HUMAN	F	153	ENSP00000286355:I153F;ENSP00000367161:I153F	ENSP00000286355:I153F	I	-	1	0	ADCY8	132121305	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.776000	0.55356	2.002000	0.58637	0.379000	0.24179	ATT	.	.		0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
KCNQ3	3786	hgsc.bcm.edu	37	8	133152405	133152405	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr8:133152405T>C	ENST00000388996.4	-	11	1906	c.1486A>G	c.(1486-1488)Atg>Gtg	p.M496V	KCNQ3_ENST00000519445.1_Missense_Mutation_p.M496V|KCNQ3_ENST00000521134.1_Missense_Mutation_p.M376V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	496					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTTCCGCCATGGGGTCACCT	0.607																																					p.M496V		Atlas-SNP	.											.	KCNQ3	164	.	0			c.A1486G						.						52.0	53.0	52.0					8																	133152405		2203	4300	6503	SO:0001583	missense	3786	exon11			CCGCCATGGGGTC	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1486A>G	chr8.hg19:g.133152405T>C	ENSP00000373648:p.Met496Val	29.0	0.0		73.0	17.0	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.472431	0.01044	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99479	-5.98;-5.98;-5.98	5.92	2.03	0.26663	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.579301	0.19542	N	0.111765	D	0.93953	0.8064	N	0.01729	-0.75	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.006;0.006	D	0.90007	0.4118	10	0.02654	T	1	-4.8328	5.4871	0.16755	0.0:0.2194:0.1356:0.645	.	496;496	E7ET42;O43525	.;KCNQ3_HUMAN	V	496;376;496;485;375	ENSP00000373648:M496V;ENSP00000429799:M376V;ENSP00000428790:M496V	ENSP00000373648:M496V	M	-	1	0	KCNQ3	133221587	0.593000	0.26840	0.972000	0.41901	0.189000	0.23516	0.524000	0.22940	0.482000	0.27582	0.533000	0.62120	ATG	.	.		0.607	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
MPDZ	8777	hgsc.bcm.edu	37	9	13133827	13133827	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:13133827G>A	ENST00000319217.7	-	32	4707	c.4460C>T	c.(4459-4461)cCc>cTc	p.P1487L	MPDZ_ENST00000540202.1_5'Flank|MPDZ_ENST00000447879.1_Missense_Mutation_p.P1454L|MPDZ_ENST00000536827.1_Missense_Mutation_p.P1454L|MPDZ_ENST00000546205.1_Missense_Mutation_p.P1501L|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.P1487L|MPDZ_ENST00000538841.1_Missense_Mutation_p.P346L|MPDZ_ENST00000381015.4_Missense_Mutation_p.P1487L|MPDZ_ENST00000381022.2_Missense_Mutation_p.P1487L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1487	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTTACCTTGGGAAGCTCCAG	0.403																																					p.P1487L		Atlas-SNP	.											.	MPDZ	324	.	0			c.C4460T						.						78.0	75.0	76.0					9																	13133827		1876	4114	5990	SO:0001583	missense	8777	exon32			ACCTTGGGAAGCT	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4460C>T	chr9.hg19:g.13133827G>A	ENSP00000320006:p.Pro1487Leu	156.0	0.0		128.0	23.0	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	hg19		.	.	.	.	.	.	.	.	.	.	G	15.55	2.866916	0.51588	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.68	3.84	0.44239	PDZ/DHR/GLGF (3);	0.146943	0.31784	N	0.007067	T	0.18676	0.0448	L	0.35414	1.06	0.80722	D	1	B;B;B;B;P;B;B	0.34724	0.018;0.0;0.0;0.003;0.465;0.014;0.004	B;B;B;B;B;B;B	0.33568	0.033;0.001;0.002;0.011;0.166;0.02;0.016	T	0.03728	-1.1009	10	0.28530	T	0.3	.	11.1255	0.48315	0.0665:0.0:0.8045:0.129	.	1454;346;192;1454;1367;1487;1487	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	L	1487;1487;1487;56;423;346;1454;1454;1487;1367;1501	ENSP00000320006:P1487L;ENSP00000439807:P1487L;ENSP00000370410:P1487L;ENSP00000415964:P56L;ENSP00000444230:P423L;ENSP00000444717:P346L;ENSP00000444151:P1454L;ENSP00000415208:P1454L;ENSP00000370403:P1487L;ENSP00000446358:P1501L	ENSP00000320006:P1487L	P	-	2	0	MPDZ	13123827	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.374000	0.59543	0.866000	0.35629	0.655000	0.94253	CCC	.	.		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
FAM205A	259308	hgsc.bcm.edu	37	9	34725939	34725939	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:34725939A>T	ENST00000378788.3	-	4	1337	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	433						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						GAGCCCACAGAATAGCTGGCT	0.547																																					p.F433Y		Atlas-SNP	.											.	FAM205A	45	.	0			c.T1298A						.						11.0	13.0	13.0					9																	34725939		692	1590	2282	SO:0001583	missense	259308	exon4			CCACAGAATAGCT		CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.1298T>A	chr9.hg19:g.34725939A>T	ENSP00000417711:p.Phe433Tyr	217.0	0.0		169.0	17.0	NM_001141917	A8MVW7	Missense_Mutation	SNP	ENST00000378788.3	hg19	CCDS55305.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265373	0.59431	.	.	ENSG00000205108	ENST00000378788	T	0.27104	1.69	3.95	2.75	0.32379	.	.	.	.	.	T	0.37812	0.1017	M	0.72894	2.215	0.24293	N	0.995151	D	0.52996	0.957	P	0.54210	0.745	T	0.14783	-1.0460	9	0.56958	D	0.05	.	6.5206	0.22272	0.7851:0.0:0.0:0.2149	.	433	Q6ZU69	F205A_HUMAN	Y	433	ENSP00000417711:F433Y	ENSP00000417711:F433Y	F	-	2	0	RP11-195F19.10	34715939	0.966000	0.33281	0.975000	0.42487	0.984000	0.73092	0.671000	0.25172	0.624000	0.30286	0.459000	0.35465	TTC	.	.		0.547	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001150.2	NM_001141917	
GCNT1	2650	hgsc.bcm.edu	37	9	79117570	79117570	+	Silent	SNP	C	C	T	rs139014455		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:79117570C>T	ENST00000376730.4	+	4	756	c.273C>T	c.(271-273)gaC>gaT	p.D91D	GCNT1_ENST00000444201.2_Silent_p.D91D|GCNT1_ENST00000442371.1_Silent_p.D91D|GCNT1_ENST00000536223.1_Silent_p.D91D	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	91	Stem region. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGACACCTGACGACTATATAA	0.393																																					p.D91D		Atlas-SNP	.											.	GCNT1	52	.	0			c.C273T						.	C	,,,,	0,4406		0,0,2203	106.0	110.0	109.0		273,273,273,273,273	-11.7	0.0	9	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GCNT1	NM_001097633.1,NM_001097634.1,NM_001097635.1,NM_001097636.1,NM_001490.4	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	91/429,91/429,91/429,91/429,91/429	79117570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2650	exon4			ACCTGACGACTAT	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.273C>T	chr9.hg19:g.79117570C>T		167.0	0.0		161.0	33.0	NM_001490	Q6DJZ4	Silent	SNP	ENST00000376730.4	hg19	CCDS6653.1																																																																																			.	C|1.000;T|0.000		0.393	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
GABBR2	9568	hgsc.bcm.edu	37	9	101056112	101056112	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:101056112G>T	ENST00000259455.2	-	18	3074	c.2615C>A	c.(2614-2616)tCt>tAt	p.S872Y		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	872					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCATGTTCGAGAGGGCTCTGT	0.398																																					p.S872Y		Atlas-SNP	.											.	GABBR2	126	.	0			c.C2615A						.						245.0	239.0	241.0					9																	101056112		2203	4300	6503	SO:0001583	missense	9568	exon18			GTTCGAGAGGGCT	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2615C>A	chr9.hg19:g.101056112G>T	ENSP00000259455:p.Ser872Tyr	82.0	0.0		82.0	15.0	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	hg19	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848565	0.91277	.	.	ENSG00000136928	ENST00000259455	D	0.82984	-1.67	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	N	0.14661	0.345	0.58432	D	0.999999	P	0.44090	0.826	B	0.43575	0.424	T	0.80134	-0.1509	10	0.87932	D	0	.	16.0535	0.80777	0.0:0.0:1.0:0.0	.	872	O75899	GABR2_HUMAN	Y	872	ENSP00000259455:S872Y	ENSP00000259455:S872Y	S	-	2	0	GABBR2	100095933	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.048000	0.93830	2.641000	0.89580	0.650000	0.86243	TCT	.	.		0.398	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
GABBR2	9568	hgsc.bcm.edu	37	9	101470749	101470749	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:101470749C>T	ENST00000259455.2	-	1	730	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	91					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGAGTGACTCGTTGCGGATC	0.677																																					p.E91K		Atlas-SNP	.											.	GABBR2	126	.	0			c.G271A						.						46.0	43.0	44.0					9																	101470749		2203	4300	6503	SO:0001583	missense	9568	exon1			GTGACTCGTTGCG	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.271G>A	chr9.hg19:g.101470749C>T	ENSP00000259455:p.Glu91Lys	64.0	0.0		68.0	8.0	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	hg19	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068103	0.36470	.	.	ENSG00000136928	ENST00000259455	D	0.82433	-1.61	3.14	3.14	0.36123	Extracellular ligand-binding receptor (1);	0.456021	0.15896	U	0.239283	T	0.61986	0.2391	L	0.27053	0.805	0.37013	D	0.895826	P	0.38078	0.617	B	0.20184	0.028	T	0.61662	-0.7017	10	0.12766	T	0.61	.	6.0632	0.19848	0.0:0.857:0.0:0.143	.	91	O75899	GABR2_HUMAN	K	91	ENSP00000259455:E91K	ENSP00000259455:E91K	E	-	1	0	GABBR2	100510570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.543000	0.53633	1.605000	0.50152	0.456000	0.33151	GAG	.	.		0.677	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
SUSD1	64420	hgsc.bcm.edu	37	9	114840897	114840897	+	Silent	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr9:114840897C>T	ENST00000374270.3	-	12	1846	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	SUSD1_ENST00000374264.2_Silent_p.P558P|SUSD1_ENST00000374263.3_Silent_p.P558P	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	558						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGTTGGTACCCGGACGTAGGT	0.493																																					p.P558P		Atlas-SNP	.											.	SUSD1	51	.	0			c.G1674A						.						149.0	143.0	145.0					9																	114840897		2203	4300	6503	SO:0001819	synonymous_variant	64420	exon12			GGTACCCGGACGT	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1674G>A	chr9.hg19:g.114840897C>T		185.0	0.0		167.0	42.0	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	hg19	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	c	0.249	-1.007695	0.02112	.	.	ENSG00000106868	ENST00000355396	.	.	.	4.96	-2.95	0.05564	.	.	.	.	.	T	0.28896	0.0717	.	.	.	0.30697	N	0.750688	.	.	.	.	.	.	T	0.40683	-0.9550	4	.	.	.	-2.7763	5.3316	0.15936	0.1519:0.2489:0.0:0.5992	.	.	.	.	R	542	.	.	G	-	1	0	SUSD1	113880718	0.392000	0.25229	0.010000	0.14722	0.093000	0.18481	-0.895000	0.04118	-0.407000	0.07576	0.645000	0.84053	GGG	.	.		0.493	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
CUBN	8029	hgsc.bcm.edu	37	10	16982125	16982125	+	Silent	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:16982125G>T	ENST00000377833.4	-	37	5519	c.5454C>A	c.(5452-5454)ctC>ctA	p.L1818L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1818	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGAATAATTGAGAGGGAAGG	0.498																																					p.L1818L		Atlas-SNP	.											.	CUBN	515	.	0			c.C5454A						.						183.0	189.0	187.0					10																	16982125		2203	4300	6503	SO:0001819	synonymous_variant	8029	exon37			ATAATTGAGAGGG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5454C>A	chr10.hg19:g.16982125G>T		157.0	0.0		162.0	21.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	hg19	CCDS7113.1																																																																																			.	.		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
JMJD1C	221037	hgsc.bcm.edu	37	10	64974046	64974046	+	Silent	SNP	A	A	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:64974046A>C	ENST00000399262.2	-	8	2099	c.1881T>G	c.(1879-1881)ctT>ctG	p.L627L	JMJD1C_ENST00000402544.1_Silent_p.L408L|JMJD1C_ENST00000542921.1_Silent_p.L445L|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Silent_p.L408L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	627					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGAAGTATTAAGTTTAGATT	0.373																																					p.L627L		Atlas-SNP	.											.	JMJD1C	347	.	0			c.T1881G						.						121.0	109.0	113.0					10																	64974046		1840	4092	5932	SO:0001819	synonymous_variant	221037	exon8			AGTATTAAGTTTA	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1881T>G	chr10.hg19:g.64974046A>C		114.0	0.0		69.0	15.0	NM_032776	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	hg19	CCDS41532.1																																																																																			.	.		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
NUDT13	25961	hgsc.bcm.edu	37	10	74874164	74874164	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:74874164T>C	ENST00000357321.4	+	2	159	c.41T>C	c.(40-42)tTt>tCt	p.F14S	NUDT13_ENST00000372997.3_Missense_Mutation_p.F14S|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.F14S|NUDT13_ENST00000488223.1_3'UTR	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					AGAAAATTTTTTTGGTGCTAT	0.338																																					p.F14S		Atlas-SNP	.											.	NUDT13	16	.	0			c.T41C						.						99.0	98.0	99.0					10																	74874164		2203	4300	6503	SO:0001583	missense	25961	exon2			AATTTTTTTGGTG	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.41T>C	chr10.hg19:g.74874164T>C	ENSP00000349874:p.Phe14Ser	63.0	0.0		84.0	8.0	NM_015901		Missense_Mutation	SNP	ENST00000357321.4	hg19	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482330	0.26598	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.30182	2.04;1.61;1.54	5.16	-0.359	0.12571	.	1.064120	0.07258	N	0.867050	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	0.999993	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.12156	0.007;0.002;0.0	T	0.29119	-1.0022	10	0.37606	T	0.19	.	1.6738	0.02817	0.1685:0.0972:0.3483:0.386	.	14;14;14	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	S	14	ENSP00000349874:F14S;ENSP00000335326:F14S;ENSP00000362088:F14S	ENSP00000335326:F14S	F	+	2	0	NUDT13	74544170	0.388000	0.25197	0.768000	0.31515	0.796000	0.44982	0.045000	0.14013	0.302000	0.22762	0.533000	0.62120	TTT	.	.		0.338	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901	
CPEB3	22849	hgsc.bcm.edu	37	10	93999237	93999237	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:93999237G>A	ENST00000265997.4	-	2	1043	c.871C>T	c.(871-873)Ccg>Tcg	p.P291S	CPEB3_ENST00000412050.4_Missense_Mutation_p.P291S	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	291					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTTTTGAGCGGCGAGATGGGG	0.697																																					p.P291S		Atlas-SNP	.											.	CPEB3	43	.	0			c.C871T						.						36.0	36.0	36.0					10																	93999237		2201	4298	6499	SO:0001583	missense	22849	exon2			TGAGCGGCGAGAT	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.871C>T	chr10.hg19:g.93999237G>A	ENSP00000265997:p.Pro291Ser	270.0	0.0		196.0	40.0	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	hg19	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123376	0.77436	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.59224	0.28;0.3	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.41492	1.28	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.996	T	0.73257	-0.4040	10	0.87932	D	0	-6.759	16.0095	0.80391	0.0:0.0:1.0:0.0	.	291;291;291	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	S	291	ENSP00000398310:P291S;ENSP00000265997:P291S	ENSP00000265997:P291S	P	-	1	0	CPEB3	93989217	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	9.593000	0.98250	2.059000	0.61396	0.462000	0.41574	CCG	.	.		0.697	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
SFRP5	6425	hgsc.bcm.edu	37	10	99527515	99527515	+	Missense_Mutation	SNP	C	C	T	rs144307831		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:99527515C>T	ENST00000266066.3	-	3	828	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	237	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GGTGTCCTTGCGCTTCAGGGG	0.607																																					p.R237H		Atlas-SNP	.											.	SFRP5	32	.	0			c.G710A						.	C	HIS/ARG	0,4406		0,0,2203	53.0	58.0	56.0		710	5.7	1.0	10	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFRP5	NM_003015.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	237/318	99527515	1,13005	2203	4300	6503	SO:0001583	missense	6425	exon3			TCCTTGCGCTTCA	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.710G>A	chr10.hg19:g.99527515C>T	ENSP00000266066:p.Arg237His	83.0	0.0		69.0	14.0	NM_003015	O14780|Q86TH7	Missense_Mutation	SNP	ENST00000266066.3	hg19	CCDS7472.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495903	0.85069	0.0	1.16E-4	ENSG00000120057	ENST00000266066	T	0.29917	1.55	5.74	5.74	0.90152	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.107337	0.64402	D	0.000019	T	0.53642	0.1809	L	0.54323	1.7	0.47214	D	0.999356	D	0.89917	1.0	D	0.74023	0.982	T	0.50709	-0.8796	10	0.62326	D	0.03	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	237	Q5T4F7	SFRP5_HUMAN	H	237	ENSP00000266066:R237H	ENSP00000266066:R237H	R	-	2	0	SFRP5	99517505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.033000	0.57282	2.712000	0.92718	0.561000	0.74099	CGC	.	C|1.000;T|0.000		0.607	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015	
LZTS2	84445	hgsc.bcm.edu	37	10	102766667	102766667	+	Silent	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr10:102766667G>T	ENST00000370220.1	+	4	4815	c.1752G>T	c.(1750-1752)cgG>cgT	p.R584R	LZTS2_ENST00000370223.3_Silent_p.R584R					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCAGCGGGAGCGGCGGC	0.692																																					p.R584R	Esophageal Squamous(8;38 437 13604 19902 37640)	Atlas-SNP	.											.	LZTS2	57	.	0			c.G1752T						.						16.0	12.0	13.0					10																	102766667		2121	4171	6292	SO:0001819	synonymous_variant	84445	exon5			GCAGCGGGAGCGG	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1752G>T	chr10.hg19:g.102766667G>T		185.0	0.0		138.0	9.0	NM_032429		Silent	SNP	ENST00000370220.1	hg19	CCDS7507.1																																																																																			.	.		0.692	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743	
DNHD1	144132	hgsc.bcm.edu	37	11	6578767	6578767	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:6578767A>G	ENST00000527990.2	+	23	8242	c.8242A>G	c.(8242-8244)Agt>Ggt	p.S2748G	DNHD1_ENST00000254579.6_Missense_Mutation_p.S2748G			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2748					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)		CAGAGATCCAAGTCTAACACC	0.498																																					p.S2748G		Atlas-SNP	.											.	DNHD1	198	.	0			c.A8242G						.						69.0	69.0	69.0					11																	6578767		692	1591	2283	SO:0001583	missense	144132	exon25			GATCCAAGTCTAA	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.8242A>G	chr11.hg19:g.6578767A>G	ENSP00000436180:p.Ser2748Gly	136.0	0.0		108.0	11.0	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.508617	0.00984	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.26373	1.74;1.74	4.55	-5.93	0.02254	.	.	.	.	.	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.39643	-0.9604	9	0.13108	T	0.6	.	6.8744	0.24139	0.4689:0.0:0.4111:0.1201	.	2748;495	Q96M86;E9PHZ7	DNHD1_HUMAN;.	G	2748;2748;495	ENSP00000254579:S2748G;ENSP00000436180:S2748G	ENSP00000254579:S2748G	S	+	1	0	DNHD1	6535343	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.076000	0.03420	-0.957000	0.03627	0.454000	0.30748	AGT	.	.		0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
MICAL2	9645	hgsc.bcm.edu	37	11	12237867	12237867	+	Splice_Site	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:12237867G>T	ENST00000256194.4	+	8	1236		c.e8+1		MICAL2_ENST00000537344.1_Splice_Site|MICAL2_ENST00000379612.3_Splice_Site|MICAL2_ENST00000527546.1_Splice_Site|MICAL2_ENST00000342902.5_Splice_Site	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCATTAACGTACGTACCTC	0.507																																					.		Atlas-SNP	.											MICAL2_ENST00000379612,NS,carcinoma,0,2	MICAL2	114	.	1	Unknown(1)	endometrium(1)	c.948+1G>T						.						149.0	109.0	122.0					11																	12237867		2201	4294	6495	SO:0001630	splice_region_variant	9645	exon8			ATTAACGTACGTA	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.948+1G>T	chr11.hg19:g.12237867G>T		50.0	0.0		73.0	12.0	NM_014632	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Splice_Site	SNP	ENST00000256194.4	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183917	0.94885	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.19	0.89804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MICAL2	12194443	1.000000	0.71417	0.116000	0.21606	0.770000	0.43624	9.628000	0.98415	2.620000	0.88729	0.563000	0.77884	.	.	.		0.507	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	Intron
TSG101	7251	hgsc.bcm.edu	37	11	18503415	18503415	+	Splice_Site	SNP	G	G	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:18503415G>C	ENST00000251968.3	-	9	1260	c.845C>G	c.(844-846)gCc>gGc	p.A282G	TSG101_ENST00000357193.3_Splice_Site_p.A177G|TSG101_ENST00000536719.1_Splice_Site_p.A282G	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	282					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATCAACCTCGGCCTGAAAACA	0.363																																					p.A282G	GBM(99;1348 1396 8611 26475 50572)	Atlas-SNP	.											.	TSG101	43	.	0			c.C845G						.						75.0	75.0	75.0					11																	18503415		2199	4293	6492	SO:0001630	splice_region_variant	7251	exon9			ACCTCGGCCTGAA	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.844-1C>G	chr11.hg19:g.18503415G>C		71.0	0.0		59.0	10.0	NM_006292	Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	hg19	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938616	0.52972	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.22134	1.97;1.97;1.97	5.97	5.05	0.67936	.	0.051891	0.85682	D	0.000000	T	0.25082	0.0609	M	0.76002	2.32	0.51767	D	0.99993	B	0.18310	0.027	B	0.13407	0.009	T	0.02484	-1.1152	10	0.24483	T	0.36	-18.221	12.9128	0.58189	0.0743:0.0:0.9257:0.0	.	282	Q99816	TS101_HUMAN	G	282;282;177	ENSP00000438471:A282G;ENSP00000251968:A282G;ENSP00000349721:A177G	ENSP00000251968:A282G	A	-	2	0	TSG101	18459991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.259000	0.65485	2.828000	0.97474	0.655000	0.94253	GCC	.	.		0.363	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	Missense_Mutation
SLC17A6	57084	hgsc.bcm.edu	37	11	22364853	22364853	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:22364853G>A	ENST00000263160.3	+	3	837	c.400G>A	c.(400-402)Ggc>Agc	p.G134S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	134					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCTTTTGGGGCTACATCAT	0.562																																					p.G134S		Atlas-SNP	.											.	SLC17A6	135	.	0			c.G400A						.						88.0	92.0	91.0					11																	22364853		2203	4300	6503	SO:0001583	missense	57084	exon3			TTTTGGGGCTACA	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.400G>A	chr11.hg19:g.22364853G>A	ENSP00000263160:p.Gly134Ser	92.0	0.0		87.0	29.0	NM_020346	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	hg19	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754943	0.96898	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61627	0.09	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	H	0.96604	3.85	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.90068	0.4161	10	0.87932	D	0	.	19.1827	0.93629	0.0:0.0:1.0:0.0	.	134	Q9P2U8	VGLU2_HUMAN	S	134;22	ENSP00000263160:G134S	ENSP00000263160:G134S	G	+	1	0	SLC17A6	22321429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.517000	0.84864	0.655000	0.94253	GGC	.	.		0.562	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
OR5J2	282775	hgsc.bcm.edu	37	11	55944930	55944930	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:55944930G>A	ENST00000312298.1	+	1	837	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGTTCTATACGCTAGGGATTC	0.403																																					p.T279T		Atlas-SNP	.											OR5J2,NS,carcinoma,0,1	OR5J2	98	.	0			c.G837A						.						98.0	100.0	99.0					11																	55944930		2201	4296	6497	SO:0001819	synonymous_variant	282775	exon1			CTATACGCTAGGG	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.837G>A	chr11.hg19:g.55944930G>A		55.0	0.0		42.0	7.0	NM_001005492	Q6IEU5	Silent	SNP	ENST00000312298.1	hg19	CCDS31522.1																																																																																			.	.		0.403	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
MRPL48	51642	hgsc.bcm.edu	37	11	73555916	73555916	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:73555916G>A	ENST00000310614.7	+	5	922	c.266G>A	c.(265-267)gGg>gAg	p.G89E	MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000535529.1_Missense_Mutation_p.G71E|MRPL48_ENST00000542303.1_Intron	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	89						mitochondrial ribosome (GO:0005761)				kidney(1)	1						TATGAATATGGGGTTTTAAAT	0.393																																					p.G89E		Atlas-SNP	.											.	MRPL48	16	.	0			c.G266A						.						86.0	81.0	83.0					11																	73555916		1833	4077	5910	SO:0001583	missense	51642	exon5			AATATGGGGTTTT	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.266G>A	chr11.hg19:g.73555916G>A	ENSP00000308717:p.Gly89Glu	105.0	0.0		112.0	38.0	NM_016055	B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	ENST00000310614.7	hg19	CCDS44676.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352154	0.82132	.	.	ENSG00000175581	ENST00000310614;ENST00000535529	T	0.44881	0.91	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.973;1.0	P;D	0.97110	0.845;1.0	T	0.63752	-0.6566	10	0.29301	T	0.29	-17.9086	16.9469	0.86232	0.0:0.0:1.0:0.0	.	71;89	B4DN34;Q96GC5	.;RM48_HUMAN	E	89;71	ENSP00000308717:G89E	ENSP00000308717:G89E	G	+	2	0	MRPL48	73233564	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.888000	0.87302	2.600000	0.87896	0.591000	0.81541	GGG	.	.		0.393	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055	
DYNC2H1	79659	hgsc.bcm.edu	37	11	103191757	103191757	+	Splice_Site	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:103191757G>T	ENST00000375735.2	+	81	11869		c.e81-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAAAATTATAGGTGCCAAAGA	0.284																																					.		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.11747-1G>T						.						50.0	46.0	48.0					11																	103191757		1790	4063	5853	SO:0001630	splice_region_variant	79659	exon82			ATTATAGGTGCCA	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11726-1G>T	chr11.hg19:g.103191757G>T		185.0	0.0		179.0	32.0	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843950	0.71488	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6123	0.95613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102696967	1.000000	0.71417	0.995000	0.50966	0.783000	0.44284	9.230000	0.95299	2.647000	0.89833	0.650000	0.86243	.	.	.		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron
PHLDB1	23187	hgsc.bcm.edu	37	11	118502074	118502074	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr11:118502074G>A	ENST00000361417.2	+	8	2389	c.1978G>A	c.(1978-1980)Gcc>Acc	p.A660T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A660T|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	660										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTTGCAGGGGCCTCTGGGCG	0.657																																					p.A660T		Atlas-SNP	.											.	PHLDB1	103	.	0			c.G1978A						.						29.0	32.0	31.0					11																	118502074		2200	4295	6495	SO:0001583	missense	23187	exon7			GCAGGGGCCTCTG		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1978G>A	chr11.hg19:g.118502074G>A	ENSP00000354498:p.Ala660Thr	91.0	0.0		86.0	18.0	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	hg19	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602800	0.28534	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.27720	1.65;1.65	4.41	2.47	0.30058	.	1.532650	0.03390	N	0.201655	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B	0.19200	0.0;0.0;0.034;0.023	B;B;B;B	0.19391	0.0;0.001;0.025;0.021	T	0.23547	-1.0185	10	0.13470	T	0.59	-1.0907	6.1347	0.20225	0.1053:0.1907:0.7041:0.0	.	404;660;660;660	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	T	660;419;660	ENSP00000354498:A660T;ENSP00000348359:A660T	ENSP00000348359:A660T	A	+	1	0	PHLDB1	118007284	0.001000	0.12720	0.217000	0.23759	0.962000	0.63368	0.677000	0.25262	0.408000	0.25621	0.555000	0.69702	GCC	.	.		0.657	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
LAG3	3902	hgsc.bcm.edu	37	12	6887023	6887023	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:6887023T>G	ENST00000203629.2	+	7	1700	c.1367T>G	c.(1366-1368)cTt>cGt	p.L456R		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	456					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCATCCTTGGTGTCCTT	0.587																																					p.L456R		Atlas-SNP	.											.	LAG3	35	.	0			c.T1367G						.						126.0	120.0	122.0					12																	6887023		2203	4300	6503	SO:0001583	missense	3902	exon7			TCATCCTTGGTGT		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1367T>G	chr12.hg19:g.6887023T>G	ENSP00000203629:p.Leu456Arg	42.0	0.0		26.0	7.0	NM_002286	A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	hg19	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429950	0.62844	.	.	ENSG00000089692	ENST00000203629	T	0.22743	1.94	5.32	5.32	0.75619	.	0.112768	0.40469	N	0.001097	T	0.43787	0.1263	M	0.69823	2.125	0.40676	D	0.982269	D	0.89917	1.0	D	0.81914	0.995	T	0.41233	-0.9520	10	0.52906	T	0.07	-17.4235	11.6703	0.51396	0.0:0.0:0.0:1.0	.	456	P18627	LAG3_HUMAN	R	456	ENSP00000203629:L456R	ENSP00000203629:L456R	L	+	2	0	LAG3	6757284	0.749000	0.28305	0.679000	0.29978	0.011000	0.07611	2.254000	0.43214	2.023000	0.59567	0.374000	0.22700	CTT	.	.		0.587	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1		
ITPR2	3709	hgsc.bcm.edu	37	12	26709308	26709308	+	Splice_Site	SNP	C	C	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:26709308C>G	ENST00000381340.3	-	36	5238	c.4822G>C	c.(4822-4824)Gat>Cat	p.D1608H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1608					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCCACTACATCCTAGGGAATG	0.433																																					p.D1608H		Atlas-SNP	.											.	ITPR2	270	.	0			c.G4822C						.						86.0	81.0	82.0					12																	26709308		1946	4152	6098	SO:0001630	splice_region_variant	3709	exon36			CTACATCCTAGGG	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4822-1G>C	chr12.hg19:g.26709308C>G		80.0	0.0		58.0	8.0	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	hg19	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518550	0.44763	.	.	ENSG00000123104	ENST00000381340	T	0.70749	-0.51	5.17	5.17	0.71159	.	0.048114	0.85682	D	0.000000	T	0.81894	0.4919	M	0.75884	2.315	0.80722	D	1	D	0.55385	0.971	P	0.58454	0.839	T	0.82121	-0.0614	10	0.42905	T	0.14	.	18.6621	0.91474	0.0:1.0:0.0:0.0	.	1608	Q14571	ITPR2_HUMAN	H	1608	ENSP00000370744:D1608H	ENSP00000370744:D1608H	D	-	1	0	ITPR2	26600575	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	5.654000	0.67974	2.404000	0.81709	0.491000	0.48974	GAT	.	.		0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Missense_Mutation
SLC38A2	54407	hgsc.bcm.edu	37	12	46764378	46764378	+	Silent	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:46764378T>C	ENST00000256689.5	-	4	675	c.231A>G	c.(229-231)gtA>gtG	p.V77V	SLC38A2_ENST00000547252.1_5'UTR|RP11-474P2.2_ENST00000550319.1_RNA	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	77	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCAGATTAAATACTGACATTC	0.378																																					p.V77V	Ovarian(9;448 492 8335 28722 40361)	Atlas-SNP	.											.	SLC38A2	36	.	0			c.A231G						.						124.0	117.0	119.0					12																	46764378		2203	4300	6503	SO:0001819	synonymous_variant	54407	exon4			ATTAAATACTGAC	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.231A>G	chr12.hg19:g.46764378T>C		200.0	0.0		183.0	40.0	NM_018976	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	hg19	CCDS8749.1																																																																																			.	.		0.378	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1		
CERS5	91012	hgsc.bcm.edu	37	12	50524462	50524462	+	Missense_Mutation	SNP	G	G	A	rs373121500		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:50524462G>A	ENST00000317551.6	-	10	1169	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	CERS5_ENST00000422340.2_Missense_Mutation_p.R291C	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	349					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACATCACTGCGATCATCCTTC	0.512																																					p.R349C		Atlas-SNP	.											LASS5,colon,carcinoma,0,1	.	.	.	0			c.C1045T						.	G	CYS/ARG	0,4406		0,0,2203	165.0	129.0	141.0		1045	5.1	1.0	12		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERS5	NM_147190.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	349/393	50524462	1,13005	2203	4300	6503	SO:0001583	missense	91012	exon10			CACTGCGATCATC		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.1045C>T	chr12.hg19:g.50524462G>A	ENSP00000325485:p.Arg349Cys	51.0	0.0		58.0	14.0	NM_147190	B4DV54	Missense_Mutation	SNP	ENST00000317551.6	hg19	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832123	0.91036	0.0	1.16E-4	ENSG00000139624	ENST00000317551;ENST00000550919;ENST00000422340	T;T	0.19938	2.28;2.11	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.951	T	0.80165	-0.1496	10	0.87932	D	0	-6.0999	19.1018	0.93276	0.0:0.0:1.0:0.0	.	291;349	B4DV54;Q8N5B7	.;CERS5_HUMAN	C	349;66;291	ENSP00000325485:R349C;ENSP00000389050:R291C	ENSP00000325485:R349C	R	-	1	0	CERS5	48810729	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.493000	0.81493	2.828000	0.97474	0.650000	0.86243	CGC	.	.		0.512	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190	
ZDHHC17	23390	hgsc.bcm.edu	37	12	77208983	77208983	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:77208983A>G	ENST00000426126.2	+	6	1250	c.601A>G	c.(601-603)Aca>Gca	p.T201A	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.T201A|ZDHHC17_ENST00000359019.4_Missense_Mutation_p.T151A	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	201					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AGCATATAGAACACATAGGTA	0.308																																					p.T201A		Atlas-SNP	.											.	ZDHHC17	45	.	0			c.A601G						.						46.0	47.0	46.0					12																	77208983		1829	4068	5897	SO:0001583	missense	23390	exon6			TATAGAACACATA	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.601A>G	chr12.hg19:g.77208983A>G	ENSP00000403397:p.Thr201Ala	94.0	0.0		93.0	22.0	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	hg19	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712767	0.68730	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	N	0.03930	-0.32	0.80722	D	1	B	0.20550	0.046	B	0.27715	0.082	T	0.16335	-1.0406	10	0.51188	T	0.08	-14.306	15.5869	0.76491	1.0:0.0:0.0:0.0	.	201	Q8IUH5	ZDH17_HUMAN	A	201;201;151;38	ENSP00000403397:T201A;ENSP00000334868:T201A;ENSP00000351913:T151A;ENSP00000449734:T38A	ENSP00000334868:T201A	T	+	1	0	ZDHHC17	75733114	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.065000	0.93941	2.084000	0.62774	0.455000	0.32223	ACA	.	.		0.308	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
ANO4	121601	hgsc.bcm.edu	37	12	101381411	101381411	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:101381411T>A	ENST00000392977.3	+	8	907	c.697T>A	c.(697-699)Tgc>Agc	p.C233S	ANO4_ENST00000392979.3_Missense_Mutation_p.C198S|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	233					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAGAATGACTGCTACACTGC	0.507										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C198S		Atlas-SNP	.											.	ANO4	183	.	0			c.T592A						.						223.0	188.0	200.0					12																	101381411		2203	4300	6503	SO:0001583	missense	121601	exon7			AATGACTGCTACA	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.697T>A	chr12.hg19:g.101381411T>A	ENSP00000376703:p.Cys233Ser	69.0	0.0	1358	67.0	17.0	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	hg19		.	.	.	.	.	.	.	.	.	.	T	12.29	1.892920	0.33442	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.65549	-0.16;-0.16	5.33	5.33	0.75918	.	0.062825	0.64402	D	0.000004	T	0.51193	0.1660	L	0.28115	0.83	0.80722	D	1	B;B	0.19331	0.009;0.035	B;B	0.16289	0.007;0.015	T	0.50338	-0.8840	10	0.62326	D	0.03	.	15.3283	0.74186	0.0:0.0:0.0:1.0	.	233;198	Q32M45;Q32M45-2	ANO4_HUMAN;.	S	198;233	ENSP00000376705:C198S;ENSP00000376703:C233S	ENSP00000376703:C233S	C	+	1	0	ANO4	99905542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.763000	0.47605	2.020000	0.59435	0.533000	0.62120	TGC	.	.		0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
NOS1	4842	hgsc.bcm.edu	37	12	117681160	117681160	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:117681160G>T	ENST00000338101.4	-	19	3010	c.3006C>A	c.(3004-3006)agC>agA	p.S1002R	NOS1_ENST00000317775.6_Missense_Mutation_p.S968R|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCTCTTCCAGCTGCGATCAT	0.512																																					p.S1002R	Esophageal Squamous(162;1748 2599 51982 52956)	Atlas-SNP	.											.	NOS1	240	.	0			c.C3006A						.						266.0	252.0	256.0					12																	117681160		2038	4194	6232	SO:0001583	missense	4842	exon20			CTTCCAGCTGCGA		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3006C>A	chr12.hg19:g.117681160G>T	ENSP00000337459:p.Ser1002Arg	109.0	0.0		116.0	7.0	NM_001204218		Missense_Mutation	SNP	ENST00000338101.4	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718460	0.48622	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01455	4.87;4.9	3.59	2.68	0.31781	Riboflavin synthase-like beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.04708	-1.0932	10	0.72032	D	0.01	-34.1931	11.6807	0.51455	0.0946:0.0:0.9054:0.0	.	968	P29475	NOS1_HUMAN	R	863;968;968;1002	ENSP00000320758:S968R;ENSP00000337459:S1002R	ENSP00000320758:S968R	S	-	3	2	NOS1	116165543	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.025000	0.64097	2.006000	0.58801	0.305000	0.20034	AGC	.	.		0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
WSB2	55884	hgsc.bcm.edu	37	12	118474281	118474281	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr12:118474281A>C	ENST00000315436.3	-	6	836	c.695T>G	c.(694-696)aTt>aGt	p.I232S	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.I234S|WSB2_ENST00000441406.2_Missense_Mutation_p.I249S|WSB2_ENST00000542304.1_Missense_Mutation_p.I7S|WSB2_ENST00000544233.1_Missense_Mutation_p.I22S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	232					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTTCCGAATTAACGTGTA	0.498																																					p.I232S		Atlas-SNP	.											.	WSB2	32	.	0			c.T695G						.						155.0	139.0	144.0					12																	118474281		2203	4300	6503	SO:0001583	missense	55884	exon6			TTCCGAATTAACG	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.695T>G	chr12.hg19:g.118474281A>C	ENSP00000319474:p.Ile232Ser	116.0	0.0		106.0	22.0	NM_018639	B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	hg19	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556333	0.86231	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;4.85	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.153965	0.56097	D	0.000036	T	0.65903	0.2736	L	0.46614	1.455	0.80722	D	1	D	0.56746	0.977	P	0.56434	0.798	T	0.69007	-0.5259	10	0.72032	D	0.01	-31.1876	15.5638	0.76273	1.0:0.0:0.0:0.0	.	232	Q9NYS7	WSB2_HUMAN	S	232;7;249;22;234;234	ENSP00000319474:I232S;ENSP00000445941:I7S;ENSP00000409131:I249S;ENSP00000444431:I22S;ENSP00000439450:I234S;ENSP00000440386:I234S	ENSP00000319474:I232S	I	-	2	0	WSB2	116958664	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.292000	0.96076	2.153000	0.67306	0.533000	0.62120	ATT	.	.		0.498	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
CDH24	64403	hgsc.bcm.edu	37	14	23524786	23524786	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr14:23524786C>T	ENST00000267383.5	-	1	249	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	CDH24_ENST00000554034.1_Missense_Mutation_p.V53I|CDH24_ENST00000487137.2_Missense_Mutation_p.V53I|CDH24_ENST00000397359.3_Missense_Mutation_p.V53I			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCCTCAATGACAAAGAACTGG	0.622											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V53I		Atlas-SNP	.											.	CDH24	129	.	0			c.G157A						.						78.0	70.0	73.0					14																	23524786		2203	4300	6503	SO:0001583	missense	64403	exon2			CAATGACAAAGAA	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.157G>A	chr14.hg19:g.23524786C>T	ENSP00000267383:p.Val53Ile	194.0	0.0	764	187.0	10.0	NM_022478	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	hg19	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846227	0.71603	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.00507	6.92;6.92;6.92;6.92	4.06	4.06	0.47325	Cadherin-like (1);	0.000000	0.51477	D	0.000092	T	0.01454	0.0047	M	0.63169	1.94	0.44880	D	0.997892	P;D;P	0.71674	0.945;0.998;0.956	D;D;D	0.91635	0.986;0.999;0.992	T	0.73726	-0.3892	10	0.46703	T	0.11	.	15.5231	0.75881	0.0:1.0:0.0:0.0	.	53;53;53	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	I	53	ENSP00000380517:V53I;ENSP00000434821:V53I;ENSP00000452493:V53I;ENSP00000267383:V53I	ENSP00000267383:V53I	V	-	1	0	CDH24	22594626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.533000	0.67160	2.287000	0.76781	0.455000	0.32223	GTC	.	.		0.622	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478	
DCAF5	8816	hgsc.bcm.edu	37	14	69520912	69520912	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr14:69520912T>G	ENST00000341516.5	-	9	2638	c.2491A>C	c.(2491-2493)Aac>Cac	p.N831H	DCAF5_ENST00000554215.1_Missense_Mutation_p.N749H|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000556847.1_Missense_Mutation_p.N749H|DCAF5_ENST00000557386.1_Missense_Mutation_p.N830H	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	831					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTGTTGTGGTTGGCACAGATG	0.592																																					p.N831H		Atlas-SNP	.											.	DCAF5	67	.	0			c.A2491C						.						156.0	146.0	149.0					14																	69520912		2203	4300	6503	SO:0001583	missense	8816	exon9			TGTGGTTGGCACA	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2491A>C	chr14.hg19:g.69520912T>G	ENSP00000341351:p.Asn831His	67.0	0.0		63.0	11.0	NM_003861	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	hg19	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	9.017	0.984025	0.18889	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.72282	-0.64;-0.46;-0.46;-0.07	5.09	5.09	0.68999	.	0.138816	0.49305	D	0.000153	T	0.53738	0.1815	N	0.17082	0.46	0.80722	D	1	B;B	0.23735	0.09;0.054	B;B	0.23419	0.046;0.021	T	0.52139	-0.8615	10	0.34782	T	0.22	-23.9641	11.095	0.48139	0.0:0.0:0.1547:0.8453	.	830;831	G3V4J7;Q96JK2	.;DCAF5_HUMAN	H	831;749;749;830	ENSP00000341351:N831H;ENSP00000451551:N749H;ENSP00000452052:N749H;ENSP00000451845:N830H	ENSP00000341351:N831H	N	-	1	0	DCAF5	68590665	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.658000	0.54482	2.139000	0.66308	0.459000	0.35465	AAC	.	.		0.592	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	
HERC2	8924	hgsc.bcm.edu	37	15	28443868	28443868	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr15:28443868T>G	ENST00000261609.7	-	49	7872	c.7764A>C	c.(7762-7764)gaA>gaC	p.E2588D		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)		CAACATCACCTTCGCACACTT	0.468																																					p.E2588D		Atlas-SNP	.											.	HERC2	501	.	0			c.A7764C						.						174.0	150.0	158.0					15																	28443868		2203	4300	6503	SO:0001583	missense	8924	exon49			ATCACCTTCGCAC	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.7764A>C	chr15.hg19:g.28443868T>G	ENSP00000261609:p.Glu2588Asp	170.0	0.0		187.0	32.0	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	8.908	0.958009	0.18507	.	.	ENSG00000128731	ENST00000261609	T	0.39997	1.05	5.46	-0.796	0.10912	CPH domain (1);	0.108892	0.64402	D	0.000010	T	0.34687	0.0906	L	0.60455	1.87	0.47905	D	0.999546	B;B	0.18013	0.025;0.002	B;B	0.20184	0.028;0.01	T	0.12192	-1.0557	10	0.36615	T	0.2	.	9.9196	0.41457	0.0:0.337:0.0:0.663	.	55;2588	A8KAQ8;O95714	.;HERC2_HUMAN	D	2588	ENSP00000261609:E2588D	ENSP00000261609:E2588D	E	-	3	2	HERC2	26117463	1.000000	0.71417	0.918000	0.36340	0.025000	0.11179	0.756000	0.26419	-0.163000	0.10946	0.397000	0.26171	GAA	.	.		0.468	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
LTK	4058	hgsc.bcm.edu	37	15	41804103	41804103	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr15:41804103G>A	ENST00000263800.6	-	5	665	c.569C>T	c.(568-570)gCg>gTg	p.A190V	LTK_ENST00000453182.2_Missense_Mutation_p.A190V|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.A190V	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	190					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ATCCATCGCCGCGTGCTCTTC	0.746										TSP Lung(18;0.14)																											p.A190V		Atlas-SNP	.											.	LTK	117	.	0			c.C569T						.						3.0	4.0	4.0					15																	41804103		1793	3750	5543	SO:0001583	missense	4058	exon5			ATCGCCGCGTGCT	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.569C>T	chr15.hg19:g.41804103G>A	ENSP00000263800:p.Ala190Val	83.0	0.0		83.0	6.0	NM_001135685	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	hg19	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387523	0.42308	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.40225	1.04;1.04;1.04	3.63	-7.26	0.01466	.	1.605850	0.04446	N	0.371694	T	0.19046	0.0457	N	0.16478	0.41	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.14117	-1.0484	10	0.13108	T	0.6	.	3.3134	0.07025	0.1556:0.0912:0.2284:0.5248	.	190;190;190	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	V	190	ENSP00000347293:A190V;ENSP00000263800:A190V;ENSP00000392196:A190V	ENSP00000263800:A190V	A	-	2	0	LTK	39591395	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.937000	0.03942	-1.593000	0.01617	-0.218000	0.12543	GCG	.	.		0.746	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
CEMIP	57214	hgsc.bcm.edu	37	15	81221411	81221411	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr15:81221411C>A	ENST00000394685.3	+	21	2927	c.2508C>A	c.(2506-2508)agC>agA	p.S836R	KIAA1199_ENST00000220244.3_Missense_Mutation_p.S836R|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.S836R			Q8WUJ3	CEMIP_HUMAN		836					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAAGAACAGCTTGTTTGTTG	0.532																																					p.S836R		Atlas-SNP	.											.	KIAA1199	118	.	0			c.C2508A						.						141.0	132.0	135.0					15																	81221411		2203	4300	6503	SO:0001583	missense	57214	exon20			GAACAGCTTGTTT																												ENST00000394685.3:c.2508C>A	chr15.hg19:g.81221411C>A	ENSP00000378177:p.Ser836Arg	314.0	0.0		314.0	37.0	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290089	0.59976	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.81330	-1.48;-1.48;-1.48	4.87	2.85	0.33270	Pectin lyase fold/virulence factor (1);	0.114346	0.64402	D	0.000018	D	0.87815	0.6272	M	0.79805	2.47	0.32107	N	0.589852	D	0.76494	0.999	D	0.80764	0.994	D	0.88077	0.2804	10	0.66056	D	0.02	-49.7366	9.3503	0.38133	0.0:0.7556:0.0:0.2444	.	836	Q8WUJ3	K1199_HUMAN	R	836	ENSP00000220244:S836R;ENSP00000378177:S836R;ENSP00000348583:S836R	ENSP00000220244:S836R	S	+	3	2	KIAA1199	79008466	0.869000	0.29996	0.998000	0.56505	0.920000	0.55202	0.229000	0.17833	1.283000	0.44513	-0.122000	0.15005	AGC	.	.		0.532	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
WDR24	84219	hgsc.bcm.edu	37	16	735410	735410	+	Silent	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr16:735410C>T	ENST00000248142.6	-	11	2255	c.2256G>A	c.(2254-2256)gcG>gcA	p.A752A	JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Silent_p.A622A|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000412368.2_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	752										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TGTCGTAGAGCGCGTGTGAGA	0.672																																					p.A622A		Atlas-SNP	.											.	WDR24	111	.	0			c.G1866A						.						37.0	46.0	43.0					16																	735410		2201	4298	6499	SO:0001819	synonymous_variant	84219	exon7			GTAGAGCGCGTGT	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2256G>A	chr16.hg19:g.735410C>T		139.0	0.0		125.0	8.0	NM_032259	A2IDB8|D3DU59|Q96GC7|Q9H0B7	Silent	SNP	ENST00000248142.6	hg19																																																																																				.	.		0.672	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259	
HIRIP3	8479	hgsc.bcm.edu	37	16	30005783	30005783	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr16:30005783T>G	ENST00000279392.3	-	4	1513	c.683A>C	c.(682-684)gAa>gCa	p.E228A	INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	228	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GATCTCCTCTTCACTCTCCTG	0.498																																					p.E228A		Atlas-SNP	.											.	HIRIP3	45	.	0			c.A683C						.						207.0	195.0	199.0					16																	30005783		2197	4300	6497	SO:0001583	missense	8479	exon4			TCCTCTTCACTCT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.683A>C	chr16.hg19:g.30005783T>G	ENSP00000279392:p.Glu228Ala	69.0	0.0		82.0	11.0	NM_003609	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	hg19	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695774	0.30052	.	.	ENSG00000149929	ENST00000279392	T	0.32753	1.44	4.35	3.22	0.36961	.	0.508000	0.18420	N	0.141763	T	0.22820	0.0551	L	0.32530	0.975	0.46356	D	0.999	P	0.42908	0.793	B	0.41374	0.355	T	0.01739	-1.1284	10	0.36615	T	0.2	-5.0832	8.2498	0.31710	0.0:0.098:0.0:0.902	.	228	Q9BW71	HIRP3_HUMAN	A	228	ENSP00000279392:E228A	ENSP00000279392:E228A	E	-	2	0	HIRIP3	29913284	0.000000	0.05858	0.018000	0.16275	0.051000	0.14879	0.141000	0.16076	0.669000	0.31146	0.482000	0.46254	GAA	.	.		0.498	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
GSE1	23199	hgsc.bcm.edu	37	16	85699912	85699912	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr16:85699912C>G	ENST00000253458.7	+	13	3265	c.3089C>G	c.(3088-3090)tCa>tGa	p.S1030*	GSE1_ENST00000405402.2_Nonsense_Mutation_p.S926*|GSE1_ENST00000393243.1_Nonsense_Mutation_p.S957*	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1030																	TTCCACGAGTCAGTGCTGCAG	0.572																																					p.S1030X		Atlas-SNP	.											.	.	.	.	0			c.C3089G						.						61.0	60.0	60.0					16																	85699912		2198	4300	6498	SO:0001587	stop_gained	23199	exon13			ACGAGTCAGTGCT	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3089C>G	chr16.hg19:g.85699912C>G	ENSP00000253458:p.Ser1030*	189.0	0.0		136.0	45.0	NM_014615	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Nonsense_Mutation	SNP	ENST00000253458.7	hg19	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.417472|10.417472	0.99401|0.99401	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692;ENST00000438180|ENST00000405402;ENST00000253458;ENST00000393243	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.81781|.	0.4895|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83764|.	0.0216|.	3|.	.|0.87932	.|D	.|0	-22.627|-22.627	19.4403|19.4403	0.94817|0.94817	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	799;232|926;1030;957	.|.	.|ENSP00000253458:S1030X	Q|S	+|+	1|2	0|0	KIAA0182|KIAA0182	84257413|84257413	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.989000|0.989000	0.77384|0.77384	7.711000|7.711000	0.84669|0.84669	2.586000|2.586000	0.87340|0.87340	0.561000|0.561000	0.74099|0.74099	CAG|TCA	.	.		0.572	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
ACAP1	9744	hgsc.bcm.edu	37	17	7247924	7247924	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:7247924C>T	ENST00000158762.3	+	10	1017	c.811C>T	c.(811-813)Cat>Tat	p.H271Y		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	271	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GATGGAAGGACATCTCTTCAA	0.572																																					p.H271Y		Atlas-SNP	.											.	ACAP1	66	.	0			c.C811T						.						58.0	48.0	52.0					17																	7247924		2022	3844	5866	SO:0001583	missense	9744	exon10			GAAGGACATCTCT	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.811C>T	chr17.hg19:g.7247924C>T	ENSP00000158762:p.His271Tyr	70.0	0.0		60.0	5.0	NM_014716	Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	hg19	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	6.208	0.406620	0.11754	.	.	ENSG00000072818	ENST00000158762	T	0.03065	4.06	5.39	3.39	0.38822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.342120	0.31821	N	0.007015	T	0.00695	0.0023	N	0.00060	-2.34	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39761	-0.9598	10	0.02654	T	1	.	6.7694	0.23585	0.0:0.7325:0.0:0.2675	.	271	Q15027	ACAP1_HUMAN	Y	271	ENSP00000158762:H271Y	ENSP00000158762:H271Y	H	+	1	0	ACAP1	7188648	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.079000	0.64431	1.426000	0.47256	0.563000	0.77884	CAT	.	.		0.572	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
MYH8	4626	hgsc.bcm.edu	37	17	10298727	10298727	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:10298727A>T	ENST00000403437.2	-	34	4779	c.4685T>A	c.(4684-4686)cTg>cAg	p.L1562Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1562					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGATACGCAGAATCTTTCC	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.L1562Q		Atlas-SNP	.											.	MYH8	346	.	0			c.T4685A						.						87.0	77.0	80.0					17																	10298727		2203	4300	6503	SO:0001583	missense	4626	exon34	Familial Cancer Database	Carney Complex Variant	ATACGCAGAATCT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4685T>A	chr17.hg19:g.10298727A>T	ENSP00000384330:p.Leu1562Gln	122.0	0.0		82.0	23.0	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	hg19	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295618	0.81025	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79033	-1.23	4.85	4.85	0.62838	Myosin tail (1);	0.000000	0.32952	U	0.005442	T	0.79209	0.4407	M	0.74881	2.28	0.58432	D	0.999998	B	0.25772	0.134	B	0.31442	0.13	T	0.79446	-0.1800	10	0.62326	D	0.03	.	14.6106	0.68514	1.0:0.0:0.0:0.0	.	1562	P13535	MYH8_HUMAN	Q	1562	ENSP00000384330:L1562Q	ENSP00000252173:L1562Q	L	-	2	0	MYH8	10239452	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.984000	0.93482	2.039000	0.60335	0.528000	0.53228	CTG	.	.		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	hgsc.bcm.edu	37	17	10351286	10351286	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:10351286A>T	ENST00000255381.2	-	34	4924	c.4814T>A	c.(4813-4815)cTg>cAg	p.L1605Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1605					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCAGCATCCAGTGTACTCTG	0.438																																					p.L1605Q		Atlas-SNP	.											.	MYH4	349	.	0			c.T4814A						.						265.0	232.0	243.0					17																	10351286		2203	4300	6503	SO:0001583	missense	4622	exon34			GCATCCAGTGTAC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4814T>A	chr17.hg19:g.10351286A>T	ENSP00000255381:p.Leu1605Gln	130.0	0.0		86.0	25.0	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844378	0.51164	.	.	ENSG00000141048	ENST00000255381	D	0.85955	-2.05	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.30085	U	0.010448	D	0.92384	0.7583	M	0.88979	2.995	0.52501	D	0.999959	D	0.55385	0.971	P	0.58577	0.841	D	0.93773	0.7077	10	0.87932	D	0	.	15.9309	0.79659	1.0:0.0:0.0:0.0	.	1605	Q9Y623	MYH4_HUMAN	Q	1605	ENSP00000255381:L1605Q	ENSP00000255381:L1605Q	L	-	2	0	MYH4	10292011	1.000000	0.71417	0.458000	0.27068	0.114000	0.19823	9.269000	0.95684	2.217000	0.71921	0.533000	0.62120	CTG	.	.		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
PRPSAP2	5636	hgsc.bcm.edu	37	17	18827289	18827289	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:18827289A>G	ENST00000268835.2	+	10	1079	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.I226V|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.I266V|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.I180V	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	266					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AAGGATTGCCATCATCGTGGT	0.358																																					p.I266V		Atlas-SNP	.											.	PRPSAP2	23	.	0			c.A796G						.						111.0	102.0	105.0					17																	18827289		2203	4300	6503	SO:0001583	missense	5636	exon9			ATTGCCATCATCG	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.796A>G	chr17.hg19:g.18827289A>G	ENSP00000268835:p.Ile266Val	135.0	0.0		102.0	33.0	NM_001243940	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	hg19	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389746	0.61956	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000432893;ENST00000455992;ENST00000412418;ENST00000268835;ENST00000536323;ENST00000542013	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.81	4.72	0.59763	.	0.149974	0.64402	D	0.000015	T	0.74711	0.3752	M	0.66439	2.03	0.58432	D	0.999998	B;B;B	0.29886	0.0;0.26;0.185	B;B;B	0.31191	0.001;0.117;0.125	T	0.69855	-0.5032	10	0.31617	T	0.26	-15.0278	12.1095	0.53831	0.9326:0.0:0.0674:0.0	.	266;226;266	B7ZKZ1;E7EMY2;O60256	.;.;KPRB_HUMAN	V	266;226;266;266;266;266;180;266	ENSP00000392536:I226V;ENSP00000399625:I266V;ENSP00000402612:I266V;ENSP00000268835:I266V;ENSP00000443967:I180V;ENSP00000439129:I266V	ENSP00000268835:I266V	I	+	1	0	PRPSAP2	18768014	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.365000	0.79537	1.014000	0.39417	0.529000	0.55759	ATC	.	.		0.358	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767	
USP22	23326	hgsc.bcm.edu	37	17	20924519	20924519	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:20924519C>T	ENST00000261497.4	-	3	528	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	USP22_ENST00000455117.2_5'UTR|USP22_ENST00000537526.2_Missense_Mutation_p.G97S	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	109					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAGTAGATGCCTCCGTACATC	0.453																																					p.G109S		Atlas-SNP	.											.	USP22	45	.	0			c.G325A						.						76.0	73.0	74.0					17																	20924519		1979	4167	6146	SO:0001583	missense	23326	exon3			AGATGCCTCCGTA	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.325G>A	chr17.hg19:g.20924519C>T	ENSP00000261497:p.Gly109Ser	102.0	0.0		66.0	5.0	NM_015276	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	hg19	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.797839	0.50208	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.37752	1.18;1.18	4.44	4.44	0.53790	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.64402	D	0.000001	T	0.26955	0.0660	N	0.16368	0.405	0.54753	D	0.999987	B;B	0.25667	0.108;0.131	B;B	0.32393	0.089;0.145	T	0.06552	-1.0820	10	0.19590	T	0.45	.	17.0541	0.86529	0.0:1.0:0.0:0.0	.	97;109	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	S	177;97;109	ENSP00000440950:G97S;ENSP00000261497:G109S	ENSP00000261497:G109S	G	-	1	0	USP22	20865111	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	5.296000	0.65698	1.991000	0.58162	0.563000	0.77884	GGC	.	.		0.453	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1		
TMIGD1	388364	hgsc.bcm.edu	37	17	28656398	28656398	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:28656398A>T	ENST00000328886.4	-	3	304	c.232T>A	c.(232-234)Tct>Act	p.S78T	TMIGD1_ENST00000538566.2_Missense_Mutation_p.S78T	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	78	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTGTTTCCAGATTTCAAATCC	0.488																																					p.S78T		Atlas-SNP	.											.	TMIGD1	38	.	0			c.T232A						.						141.0	124.0	130.0					17																	28656398		2203	4300	6503	SO:0001583	missense	388364	exon3			TTCCAGATTTCAA	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.232T>A	chr17.hg19:g.28656398A>T	ENSP00000332404:p.Ser78Thr	133.0	0.0		112.0	25.0	NM_206832	A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	hg19	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485664	0.26686	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.16073	2.37;2.37	5.52	-4.08	0.03963	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640253	0.16221	N	0.224035	T	0.10380	0.0254	L	0.51422	1.61	0.09310	N	1	B;B	0.17667	0.019;0.023	B;B	0.12837	0.007;0.008	T	0.23404	-1.0189	10	0.41790	T	0.15	0.0514	1.0095	0.01494	0.2091:0.2905:0.2903:0.21	.	78;78	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	T	78	ENSP00000332404:S78T;ENSP00000446118:S78T	ENSP00000332404:S78T	S	-	1	0	TMIGD1	25680524	0.956000	0.32656	0.295000	0.24960	0.991000	0.79684	0.096000	0.15147	-0.327000	0.08551	-0.371000	0.07208	TCT	.	.		0.488	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832	
RHOT1	55288	hgsc.bcm.edu	37	17	30528018	30528018	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:30528018G>A	ENST00000333942.6	+	14	1383	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	RHOT1_ENST00000545287.2_Missense_Mutation_p.G382S|RHOT1_ENST00000583994.1_Missense_Mutation_p.G255S|RHOT1_ENST00000354266.3_Missense_Mutation_p.G361S|RHOT1_ENST00000358365.3_Missense_Mutation_p.G382S|RHOT1_ENST00000394692.2_Missense_Mutation_p.G382S|RHOT1_ENST00000581094.1_Missense_Mutation_p.G382S	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	382					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GGAATATTTGGGCTATCTAGG	0.363																																					p.G382S		Atlas-SNP	.											.	RHOT1	69	.	0			c.G1144A						.						130.0	124.0	126.0					17																	30528018		2203	4300	6503	SO:0001583	missense	55288	exon14			TATTTGGGCTATC	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1144G>A	chr17.hg19:g.30528018G>A	ENSP00000334724:p.Gly382Ser	70.0	0.0		87.0	20.0	NM_001033568	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	hg19	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784083	0.70222	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.73363	-0.71;-0.74;-0.72	5.72	5.72	0.89469	EF hand associated, type-1 (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.72353	2.195	0.80722	D	1	D;P;D;P	0.89917	1.0;0.935;0.966;0.929	D;P;P;P	0.87578	0.998;0.824;0.852;0.771	D	0.86653	0.1899	10	0.66056	D	0.02	-8.8202	19.8965	0.96963	0.0:0.0:1.0:0.0	.	382;382;382;382	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	S	382	ENSP00000351132:G382S;ENSP00000378184:G382S;ENSP00000334724:G382S	ENSP00000334724:G382S	G	+	1	0	RHOT1	27552131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.025000	0.88777	2.717000	0.92951	0.655000	0.94253	GGC	.	.		0.363	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
KRTAP9-3	83900	hgsc.bcm.edu	37	17	39388885	39388885	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:39388885G>A	ENST00000411528.2	+	1	171	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	44	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGCCAGCCTTGCTGCC	0.617																																					p.Q44Q		Atlas-SNP	.											.	KRTAP9-3	11	.	0			c.G132A						.						60.0	63.0	62.0					17																	39388885		2099	4296	6395	SO:0001819	synonymous_variant	83900	exon1			CTGCCAGCCTTGC	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.132G>A	chr17.hg19:g.39388885G>A		118.0	0.0		82.0	12.0	NM_031962		Silent	SNP	ENST00000411528.2	hg19	CCDS11385.1																																																																																			.	.		0.617	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1		
BRCA1	672	hgsc.bcm.edu	37	17	41245524	41245524	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:41245524G>C	ENST00000357654.3	-	10	2142	c.2024C>G	c.(2023-2025)gCa>gGa	p.A675G	BRCA1_ENST00000354071.3_Missense_Mutation_p.A675G|BRCA1_ENST00000346315.3_Missense_Mutation_p.A675G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A379G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A675G|BRCA1_ENST00000493795.1_Missense_Mutation_p.A628G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	675					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCTCCAGTTGCAGGTTCTTT	0.413			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.A675G		Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	BRCA1	304	.	0			c.C2024G						.						107.0	96.0	99.0					17																	41245524		2202	4300	6502	SO:0001583	missense	672	exon10	Familial Cancer Database		CCAGTTGCAGGTT	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2024C>G	chr17.hg19:g.41245524G>C	ENSP00000350283:p.Ala675Gly	121.0	0.0		98.0	17.0	NM_007300	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	hg19	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814259	0.32053	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.3	5.3	0.74995	.	0.644274	0.14501	N	0.315759	D	0.86590	0.5969	M	0.72624	2.21	0.09310	N	1	B;B;B;P;B;B	0.35307	0.045;0.045;0.343;0.494;0.024;0.438	B;B;P;B;B;B	0.45167	0.091;0.056;0.472;0.297;0.417;0.197	T	0.81120	-0.1077	10	0.72032	D	0.01	.	13.8762	0.63653	0.0:0.1521:0.8479:0.0	.	675;634;675;675;675;675	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	675;675;675;675;379;675;628	ENSP00000350283:A675G;ENSP00000326002:A675G;ENSP00000246907:A675G;ENSP00000310938:A379G;ENSP00000418960:A675G;ENSP00000418775:A628G	ENSP00000310938:A379G	A	-	2	0	BRCA1	38499050	0.004000	0.15560	0.007000	0.13788	0.222000	0.24845	1.448000	0.35112	2.763000	0.94921	0.561000	0.74099	GCA	.	.		0.413	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
UNC13D	201294	hgsc.bcm.edu	37	17	73830716	73830716	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:73830716C>A	ENST00000207549.4	-	22	2453	c.2074G>T	c.(2074-2076)Ggc>Tgc	p.G692C	UNC13D_ENST00000412096.2_Missense_Mutation_p.G692C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	692					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCTGGCCTTGGTCCTTC	0.632									Familial Hemophagocytic Lymphohistiocytosis																												p.G692C		Atlas-SNP	.											.	UNC13D	68	.	0			c.G2074T						.						40.0	40.0	40.0					17																	73830716		2203	4300	6503	SO:0001583	missense	201294	exon22	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	CCTGGCCTTGGTC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2074G>T	chr17.hg19:g.73830716C>A	ENSP00000207549:p.Gly692Cys	627.0	1.0		445.0	107.0	NM_199242	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	hg19	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500901	0.64298	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.80994	-1.44;-1.44	4.63	2.62	0.31277	.	0.196855	0.43416	D	0.000573	T	0.78786	0.4338	L	0.38175	1.15	0.34957	D	0.751811	P;D	0.61080	0.932;0.989	P;P	0.56278	0.795;0.681	T	0.81055	-0.1106	10	0.46703	T	0.11	-20.5578	8.4371	0.32793	0.0:0.8176:0.0:0.1824	.	692;692	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	692	ENSP00000207549:G692C;ENSP00000388093:G692C	ENSP00000207549:G692C	G	-	1	0	UNC13D	71342311	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	1.533000	0.36040	0.651000	0.30788	0.563000	0.77884	GGC	.	.		0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
EXOC7	23265	hgsc.bcm.edu	37	17	74085364	74085364	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr17:74085364G>A	ENST00000335146.7	-	9	1145	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	EXOC7_ENST00000467929.2_Silent_p.Y272Y|EXOC7_ENST00000405575.4_Silent_p.Y336Y|EXOC7_ENST00000607838.1_Silent_p.Y336Y|EXOC7_ENST00000411744.2_Silent_p.Y305Y|EXOC7_ENST00000589210.1_Silent_p.Y313Y|EXOC7_ENST00000332065.5_Silent_p.Y282Y			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	364					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CGCAGTGGATGTAGGCATCGG	0.627																																					p.Y364Y		Atlas-SNP	.											.	EXOC7	47	.	0			c.C1092T						.						114.0	97.0	103.0					17																	74085364		2203	4300	6503	SO:0001819	synonymous_variant	23265	exon9			GTGGATGTAGGCA	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1092C>T	chr17.hg19:g.74085364G>A		67.0	0.0		70.0	9.0	NM_001145297	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	hg19	CCDS45782.1																																																																																			.	.		0.627	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	
EMILIN2	84034	hgsc.bcm.edu	37	18	2885112	2885112	+	Silent	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr18:2885112T>A	ENST00000254528.3	+	3	567	c.408T>A	c.(406-408)ccT>ccA	p.P136P		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	136					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGGCTCGGCCTCGAAACAGCT	0.512																																					p.P136P		Atlas-SNP	.											.	EMILIN2	97	.	0			c.T408A						.						63.0	64.0	64.0					18																	2885112		2203	4300	6503	SO:0001819	synonymous_variant	84034	exon3			TCGGCCTCGAAAC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.408T>A	chr18.hg19:g.2885112T>A		90.0	0.0		105.0	22.0	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	hg19	CCDS11828.1																																																																																			.	.		0.512	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
ANKRD12	23253	hgsc.bcm.edu	37	18	9254666	9254666	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr18:9254666A>C	ENST00000262126.4	+	9	1641	c.1401A>C	c.(1399-1401)aaA>aaC	p.K467N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K444N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K444N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	467						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTGAACACAaacagaaaggca	0.299																																					p.K467N		Atlas-SNP	.											.	ANKRD12	167	.	0			c.A1401C						.						33.0	37.0	35.0					18																	9254666		2197	4288	6485	SO:0001583	missense	23253	exon9			ACACAAACAGAAA	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1401A>C	chr18.hg19:g.9254666A>C	ENSP00000262126:p.Lys467Asn	378.0	0.0		332.0	55.0	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	hg19	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.697780	0.30142	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.05580	3.47;3.42	5.95	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.74881	2.28	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.983;0.963	T	0.00256	-1.1873	10	0.72032	D	0.01	-4.5051	9.1632	0.37035	0.7115:0.0:0.2885:0.0	.	94;444;467	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	N	444;467;174	ENSP00000372932:K444N;ENSP00000262126:K467N	ENSP00000262126:K467N	K	+	3	2	ANKRD12	9244666	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.457000	0.21875	0.425000	0.26087	0.528000	0.53228	AAA	.	.		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
RIT2	6014	hgsc.bcm.edu	37	18	40323617	40323617	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr18:40323617G>A	ENST00000326695.5	-	5	666	c.495C>T	c.(493-495)gcC>gcT	p.A165A	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	165					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAATCTGAGGGCTGCAGAGG	0.378																																					p.A165A		Atlas-SNP	.											.	RIT2	56	.	0			c.C495T						.						88.0	88.0	88.0					18																	40323617		2203	4300	6503	SO:0001819	synonymous_variant	6014	exon5			TCTGAGGGCTGCA	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.495C>T	chr18.hg19:g.40323617G>A		177.0	0.0		187.0	30.0	NM_002930	B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	hg19	CCDS11921.1																																																																																			.	.		0.378	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930	
MUC16	94025	hgsc.bcm.edu	37	19	9063744	9063744	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:9063744G>T	ENST00000397910.4	-	3	23905	c.23702C>A	c.(23701-23703)gCa>gAa	p.A7901E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7903	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						GGTTATTTCTGCTGATTCTGT	0.493																																					p.A7901E		Atlas-SNP	.											.	MUC16	4315	.	0			c.C23702A						.						223.0	203.0	210.0					19																	9063744		2019	4182	6201	SO:0001583	missense	94025	exon3			ATTTCTGCTGATT	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.23702C>A	chr19.hg19:g.9063744G>T	ENSP00000381008:p.Ala7901Glu	161.0	0.0		121.0	7.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.077	0.012247	0.07912	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	2.05	-0.565	0.11771	.	.	.	.	.	T	0.03520	0.0101	L	0.55481	1.735	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.17440	-1.0369	8	0.87932	D	0	.	6.2421	0.20797	0.0:0.0:0.4681:0.5319	.	7901	B5ME49	.	E	7901	ENSP00000381008:A7901E	ENSP00000381008:A7901E	A	-	2	0	MUC16	8924744	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.613000	0.02059	-0.021000	0.14009	-1.243000	0.01532	GCA	.	.		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
FCHO1	23149	hgsc.bcm.edu	37	19	17877522	17877522	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:17877522A>C	ENST00000596536.1	+	7	522	c.239A>C	c.(238-240)aAg>aCg	p.K80T	FCHO1_ENST00000594202.1_Missense_Mutation_p.K80T|FCHO1_ENST00000595033.1_Missense_Mutation_p.K30T|FCHO1_ENST00000597512.1_Missense_Mutation_p.K87T|FCHO1_ENST00000600676.1_Missense_Mutation_p.K80T|FCHO1_ENST00000389133.4_Missense_Mutation_p.K80T|FCHO1_ENST00000252771.7_Missense_Mutation_p.K80T|FCHO1_ENST00000596951.1_Missense_Mutation_p.K80T|FCHO1_ENST00000539407.1_Missense_Mutation_p.K80T	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	80	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCCTCGGACAAGCTGGCGCTG	0.627																																					p.K80T		Atlas-SNP	.											.	FCHO1	69	.	0			c.A239C						.						55.0	45.0	49.0					19																	17877522		2203	4300	6503	SO:0001583	missense	23149	exon6			CGGACAAGCTGGC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.239A>C	chr19.hg19:g.17877522A>C	ENSP00000470731:p.Lys80Thr	155.0	0.0		137.0	25.0	NM_001161358	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	hg19	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723799	0.89298	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.18810	2.19;2.19;2.19	5.05	5.05	0.67936	Fps/Fes/Fer/CIP4 homology (3);	0.155164	0.56097	D	0.000033	T	0.32406	0.0828	L	0.56396	1.775	0.43313	D	0.995326	P;P;P	0.51653	0.483;0.947;0.888	B;P;P	0.54140	0.328;0.743;0.626	T	0.02766	-1.1113	10	0.37606	T	0.19	-24.6756	11.2137	0.48815	1.0:0.0:0.0:0.0	.	30;80;80	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	T	80	ENSP00000252771:K80T;ENSP00000373785:K80T;ENSP00000437978:K80T	ENSP00000252771:K80T	K	+	2	0	FCHO1	17738522	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.594000	0.90836	1.911000	0.55334	0.454000	0.30748	AAG	.	.		0.627	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	
WDR87	83889	hgsc.bcm.edu	37	19	38376636	38376636	+	Missense_Mutation	SNP	C	C	T	rs373987886		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:38376636C>T	ENST00000303868.5	-	6	7782	c.7558G>A	c.(7558-7560)Gta>Ata	p.V2520I	WDR87_ENST00000447313.2_Missense_Mutation_p.V2559I	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2520										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GAGAGGCTTACGTCTGCATGT	0.517																																					p.V2520I		Atlas-SNP	.											.	WDR87	191	.	0			c.G7558A						.	C	ILE/VAL	1,1383		0,1,691	145.0	120.0	128.0		7558	-2.4	0.0	19		128	0,3182		0,0,1591	no	missense	WDR87	NM_031951.3	29	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	benign	2520/2874	38376636	1,4565	692	1591	2283	SO:0001583	missense	83889	exon6			GGCTTACGTCTGC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.7558G>A	chr19.hg19:g.38376636C>T	ENSP00000368025:p.Val2520Ile	160.0	0.0		116.0	28.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663811	0.14710	7.23E-4	0.0	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10288	2.89;2.89	3.88	-2.37	0.06643	.	.	.	.	.	T	0.03871	0.0109	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46652	-0.9176	9	0.18276	T	0.48	.	7.7495	0.28888	0.0:0.4492:0.0:0.5508	.	2520;2559	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	I	2559;2520	ENSP00000405012:V2559I;ENSP00000368025:V2520I	ENSP00000368025:V2520I	V	-	1	0	WDR87	43068476	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.142000	0.10311	-0.306000	0.08818	-0.897000	0.02905	GTA	.	.		0.517	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
HNRNPL	3191	hgsc.bcm.edu	37	19	39329111	39329111	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:39329111G>T	ENST00000221419.5	-	10	1849	c.1483C>A	c.(1483-1485)Cgc>Agc	p.R495S	AC104534.3_ENST00000594769.1_Silent_p.T111T|HNRNPL_ENST00000600873.1_Missense_Mutation_p.R362S	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	495	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGCTGGATGCGGTTCTTGGCT	0.577																																					p.R495S		Atlas-SNP	.											.	HNRNPL	67	.	0			c.C1483A						.						76.0	64.0	68.0					19																	39329111		2203	4296	6499	SO:0001583	missense	3191	exon10			GGATGCGGTTCTT	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1483C>A	chr19.hg19:g.39329111G>T	ENSP00000221419:p.Arg495Ser	105.0	0.0		100.0	5.0	NM_001533	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	hg19	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488847	0.64074	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.87	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.997;0.971;1.0	D;P;D	0.83275	0.941;0.536;0.996	T	0.77887	-0.2420	9	0.45353	T	0.12	.	13.4567	0.61204	0.0:0.0:0.7485:0.2515	.	495;464;478	P14866;B2R959;Q6NTA2	HNRPL_HUMAN;.;.	S	495;362;362	.	ENSP00000221419:R495S	R	-	1	0	HNRNPL	44020951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.499000	0.45372	2.941000	0.99782	0.655000	0.94253	CGC	.	.		0.577	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
CLASRP	11129	hgsc.bcm.edu	37	19	45567337	45567337	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:45567337A>G	ENST00000221455.3	+	12	1071	c.973A>G	c.(973-975)Aag>Gag	p.K325E	CLASRP_ENST00000391953.4_Missense_Mutation_p.K263E|CLASRP_ENST00000544944.2_Missense_Mutation_p.K325E	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	325					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCGCGAGGAGAAGATCACGTT	0.682																																					p.K325E		Atlas-SNP	.											.	CLASRP	44	.	0			c.A973G						.						18.0	23.0	22.0					19																	45567337		2203	4297	6500	SO:0001583	missense	11129	exon12			GAGGAGAAGATCA	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.973A>G	chr19.hg19:g.45567337A>G	ENSP00000221455:p.Lys325Glu	104.0	0.0		106.0	32.0	NM_007056	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	hg19	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695648	0.48202	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.12039	2.72;2.8;2.72;2.72	4.83	3.74	0.42951	.	0.000000	0.37906	U	0.001890	T	0.09992	0.0245	L	0.39245	1.2	0.44454	D	0.997384	B;B;B	0.26483	0.05;0.05;0.15	B;B;B	0.26310	0.047;0.047;0.068	T	0.15065	-1.0450	10	0.45353	T	0.12	-22.9827	3.6412	0.08168	0.7057:0.0:0.1013:0.193	.	263;325;325	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	E	325;325;263;325	ENSP00000221455:K325E;ENSP00000375814:K325E;ENSP00000375815:K263E;ENSP00000438702:K325E	ENSP00000221455:K325E	K	+	1	0	CLASRP	50259177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.271000	0.65553	1.817000	0.53016	0.460000	0.39030	AAG	.	.		0.682	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056	
PTPRH	5794	hgsc.bcm.edu	37	19	55715190	55715190	+	Silent	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:55715190G>A	ENST00000376350.3	-	5	868	c.846C>T	c.(844-846)gaC>gaT	p.D282D	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	282	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TATTTACTCCGTCTTTCTCCA	0.488																																					p.D282D		Atlas-SNP	.											.	PTPRH	139	.	0			c.C846T						.						200.0	189.0	192.0					19																	55715190		2203	4300	6503	SO:0001819	synonymous_variant	5794	exon5			TACTCCGTCTTTC		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.846C>T	chr19.hg19:g.55715190G>A		127.0	0.0		147.0	9.0	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	hg19	CCDS33110.1																																																																																			.	.		0.488	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
ZNF135	7694	hgsc.bcm.edu	37	19	58579350	58579350	+	Missense_Mutation	SNP	G	G	A	rs566725358		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr19:58579350G>A	ENST00000313434.5	+	5	1599	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.G512S|ZNF135_ENST00000439855.2_Missense_Mutation_p.G500S|ZNF135_ENST00000506786.1_Missense_Mutation_p.G458S|ZNF135_ENST00000401053.4_Missense_Mutation_p.G524S|ZNF135_ENST00000359978.6_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	500					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAATGACTGCGGCAAGGCATT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20246	0.001		0.0	False		,,,				2504	0.0				p.G524S		Atlas-SNP	.											.	ZNF135	159	.	0			c.G1570A						.						89.0	81.0	84.0					19																	58579350		2203	4300	6503	SO:0001583	missense	7694	exon4			GACTGCGGCAAGG	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1498G>A	chr19.hg19:g.58579350G>A	ENSP00000321406:p.Gly500Ser	120.0	0.0		94.0	19.0	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	hg19		.	.	.	.	.	.	.	.	.	.	G	11.77	1.738730	0.30774	.	.	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T	0.01455	4.87;4.87;4.87;4.87;4.87	3.26	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.48260	1.515	0.22552	N	0.998991	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.35251	-0.9796	9	0.66056	D	0.02	.	6.5543	0.22452	0.11:0.1874:0.7025:0.0	.	512;500	E9PEV2;P52742	.;ZN135_HUMAN	S	524;500;500;512;458	ENSP00000441410:G524S;ENSP00000444828:G500S;ENSP00000321406:G500S;ENSP00000422074:G512S;ENSP00000427691:G458S	ENSP00000321406:G500S	G	+	1	0	ZNF135	63271162	0.949000	0.32298	0.680000	0.29994	0.011000	0.07611	2.098000	0.41757	0.677000	0.31305	0.557000	0.71058	GGC	.	.		0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
NELFCD	51497	hgsc.bcm.edu	37	20	57568786	57568786	+	Silent	SNP	T	T	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr20:57568786T>A	ENST00000344018.3	+	13	1602	c.1575T>A	c.(1573-1575)acT>acA	p.T525T	NELFCD_ENST00000602795.1_Silent_p.T534T|NELFCD_ENST00000479207.1_Intron			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	525					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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											AGCTGGACACTGACATTTCAC	0.448																																					p.T534T		Atlas-SNP	.											.	.	.	.	0			c.T1602A						.						202.0	178.0	186.0					20																	57568786		2203	4300	6503	SO:0001819	synonymous_variant	51497	exon13			GGACACTGACATT	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1575T>A	chr20.hg19:g.57568786T>A		86.0	0.0		85.0	16.0	NM_198976	B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	hg19																																																																																				.	.		0.448	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976	
DIDO1	11083	hgsc.bcm.edu	37	20	61542449	61542449	+	Silent	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr20:61542449C>A	ENST00000266070.4	-	3	841	c.516G>T	c.(514-516)cgG>cgT	p.R172R	DIDO1_ENST00000395340.1_Silent_p.R172R|DIDO1_ENST00000354665.4_Silent_p.R172R|DIDO1_ENST00000395343.1_Silent_p.R172R|DIDO1_ENST00000266071.5_Silent_p.R172R|DIDO1_ENST00000395335.2_Silent_p.R172R|DIDO1_ENST00000370366.1_Silent_p.R172R|DIDO1_ENST00000370368.1_Silent_p.R172R|DIDO1_ENST00000370371.4_Silent_p.R172R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	172					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTCCTGTTCCCGCTTCCTGC	0.612																																					p.R172R	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Atlas-SNP	.											.	DIDO1	321	.	0			c.G516T						.						55.0	52.0	53.0					20																	61542449		2203	4300	6503	SO:0001819	synonymous_variant	11083	exon3			CTGTTCCCGCTTC	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.516G>T	chr20.hg19:g.61542449C>A		98.0	0.0		64.0	19.0	NM_080797	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	hg19	CCDS33506.1																																																																																			.	.		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
PCNT	5116	hgsc.bcm.edu	37	21	47831466	47831466	+	Missense_Mutation	SNP	G	G	T	rs563470468		TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr21:47831466G>T	ENST00000359568.5	+	28	5586	c.5479G>T	c.(5479-5481)Gca>Tca	p.A1827S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1827					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCCAGGGCGCAGAGGAGGC	0.687																																					p.A1827S		Atlas-SNP	.											.	PCNT	283	.	0			c.G5479T						.						12.0	15.0	14.0					21																	47831466		2192	4281	6473	SO:0001583	missense	5116	exon28			CAGGGCGCAGAGG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5479G>T	chr21.hg19:g.47831466G>T	ENSP00000352572:p.Ala1827Ser	142.0	0.0		101.0	25.0	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839871	0.32513	.	.	ENSG00000160299	ENST00000359568	T	0.01629	4.72	5.91	1.91	0.25777	.	0.000000	0.33813	N	0.004536	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	P;P	0.44044	0.825;0.732	P;B	0.45099	0.469;0.279	T	0.46176	-0.9210	10	0.46703	T	0.11	.	9.7352	0.40384	0.2554:0.0:0.7446:0.0	.	1709;1827	O95613-2;O95613	.;PCNT_HUMAN	S	1827	ENSP00000352572:A1827S	ENSP00000352572:A1827S	A	+	1	0	PCNT	46655894	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.528000	0.23002	0.393000	0.25203	-0.119000	0.15052	GCA	.	.		0.687	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
CARD10	29775	hgsc.bcm.edu	37	22	37887846	37887846	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr22:37887846C>A	ENST00000403299.1	-	20	2996	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L	CARD10_ENST00000251973.5_Missense_Mutation_p.R927L|CARD10_ENST00000406271.3_Missense_Mutation_p.R641L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	927					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCGCACACCCCGAGCACCCAG	0.612																																					p.R927L		Atlas-SNP	.											.	CARD10	55	.	0			c.G2780T						.						92.0	70.0	77.0					22																	37887846		2203	4299	6502	SO:0001583	missense	29775	exon19			ACACCCCGAGCAC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2780G>T	chr22.hg19:g.37887846C>A	ENSP00000384570:p.Arg927Leu	42.0	0.0		48.0	6.0	NM_014550	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	hg19	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657615	0.14645	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973	T;T;T	0.40225	1.04;1.44;1.04	5.64	2.19	0.27852	.	0.621303	0.15740	N	0.246959	T	0.24812	0.0602	N	0.22421	0.69	0.25506	N	0.987504	B;B	0.30146	0.116;0.27	B;B	0.31547	0.048;0.132	T	0.13019	-1.0525	10	0.29301	T	0.29	-40.128	5.1446	0.14977	0.0:0.5296:0.0:0.4704	.	927;641	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	927;641;927	ENSP00000384570:R927L;ENSP00000385799:R641L;ENSP00000251973:R927L	ENSP00000251973:R927L	R	-	2	0	CARD10	36217792	0.726000	0.28059	0.597000	0.28824	0.001000	0.01503	1.729000	0.38115	0.755000	0.32990	-0.751000	0.03497	CGG	.	.		0.612	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
BMX	660	hgsc.bcm.edu	37	X	15560110	15560110	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:15560110T>C	ENST00000357607.2	+	15	1588	c.1400T>C	c.(1399-1401)cTc>cCc	p.L467P	BMX_ENST00000342014.6_Missense_Mutation_p.L467P|BMX_ENST00000348343.6_Missense_Mutation_p.L467P			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	467	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCCAGGAAACTCAGCCATCCC	0.363																																					p.L467P		Atlas-SNP	.											.	BMX	73	.	0			c.T1400C						.						105.0	100.0	101.0					X																	15560110		2203	4299	6502	SO:0001583	missense	660	exon15			GGAAACTCAGCCA	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1400T>C	chrX.hg19:g.15560110T>C	ENSP00000350224:p.Leu467Pro	263.0	0.0		256.0	46.0	NM_001721	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	hg19	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550941	0.65311	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.92149	-2.98;-2.98;-2.98	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000092	D	0.97356	0.9135	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98081	1.0404	10	0.87932	D	0	.	12.3781	0.55291	0.0:0.0:0.0:1.0	.	467	P51813	BMX_HUMAN	P	467	ENSP00000350224:L467P;ENSP00000308774:L467P;ENSP00000340082:L467P	ENSP00000340082:L467P	L	+	2	0	BMX	15470031	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	7.837000	0.86796	1.593000	0.50029	0.481000	0.45027	CTC	.	.		0.363	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
NR0B1	190	hgsc.bcm.edu	37	X	30327407	30327407	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:30327407G>A	ENST00000378970.4	-	1	308	c.74C>T	c.(73-75)gCg>gTg	p.A25V	NR0B1_ENST00000453287.1_Missense_Mutation_p.A25V|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	25	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTCAGGAGCCGCGCGCGTTTG	0.692																																					p.A25V		Atlas-SNP	.											.	NR0B1	61	.	0			c.C74T						.						9.0	10.0	9.0					X																	30327407		2079	4083	6162	SO:0001583	missense	190	exon1			GGAGCCGCGCGCG	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.74C>T	chrX.hg19:g.30327407G>A	ENSP00000368253:p.Ala25Val	113.0	0.0		105.0	24.0	NM_000475	Q96F69	Missense_Mutation	SNP	ENST00000378970.4	hg19	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	6.749	0.506986	0.12883	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98090	-3.84;-4.71	4.42	2.58	0.30949	.	0.605757	0.15887	N	0.239740	D	0.93976	0.8071	L	0.36672	1.1	0.09310	N	1	P	0.48016	0.904	B	0.41374	0.355	D	0.87868	0.2669	10	0.36615	T	0.2	-5.0009	6.7124	0.23284	0.0:0.1917:0.6061:0.2022	.	25	P51843	NR0B1_HUMAN	V	25	ENSP00000368253:A25V;ENSP00000396403:A25V	ENSP00000368253:A25V	A	-	2	0	NR0B1	30237328	0.000000	0.05858	0.002000	0.10522	0.247000	0.25773	-0.372000	0.07504	0.396000	0.25283	0.513000	0.50165	GCG	.	.		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475	
COL4A5	1287	hgsc.bcm.edu	37	X	107824223	107824223	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:107824223G>T	ENST00000361603.2	+	16	1146	c.902G>T	c.(901-903)gGc>gTc	p.G301V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G301V	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	301	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTAAACCAGGCAAAGATGGA	0.373									Alport syndrome with Diffuse Leiomyomatosis																												p.G301V		Atlas-SNP	.											.	COL4A5	262	.	0			c.G902T						.						120.0	106.0	111.0					X																	107824223		2203	4300	6503	SO:0001583	missense	1287	exon16	Familial Cancer Database		AACCAGGCAAAGA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.902G>T	chrX.hg19:g.107824223G>T	ENSP00000354505:p.Gly301Val	421.0	0.0		360.0	76.0	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	hg19	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091071	0.55968	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99353	-5.77;-5.77	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97772	1.0227	10	0.87932	D	0	.	14.8262	0.70113	0.0:0.0:0.855:0.145	.	301;301	E7EVY4;P29400	.;CO4A5_HUMAN	V	301	ENSP00000331902:G301V;ENSP00000354505:G301V	ENSP00000331902:G301V	G	+	2	0	COL4A5	107710879	1.000000	0.71417	0.975000	0.42487	0.941000	0.58515	6.531000	0.73820	1.062000	0.40625	0.600000	0.82982	GGC	.	.		0.373	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
SLC25A43	203427	hgsc.bcm.edu	37	X	118540512	118540512	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:118540512T>C	ENST00000217909.7	+	2	709	c.365T>C	c.(364-366)aTt>aCt	p.I122T	SLC25A43_ENST00000336249.7_Missense_Mutation_p.I122T|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	122					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						GTTTCCACCATTGTAACATAT	0.483																																					p.I122T		Atlas-SNP	.											.	SLC25A43	29	.	0			c.T365C						.						105.0	93.0	97.0					X																	118540512		2203	4300	6503	SO:0001583	missense	203427	exon2			CCACCATTGTAAC	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.365T>C	chrX.hg19:g.118540512T>C	ENSP00000217909:p.Ile122Thr	198.0	0.0		210.0	46.0	NM_145305	O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	hg19	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881574	0.33255	.	.	ENSG00000077713	ENST00000217909;ENST00000336249;ENST00000326714	T;T	0.77877	-1.13;-1.13	4.9	3.74	0.42951	Mitochondrial carrier domain (2);	0.448815	0.24490	N	0.038075	T	0.59715	0.2214	N	0.05414	-0.055	0.20489	N	0.999891	P;B	0.36086	0.536;0.259	B;B	0.40256	0.324;0.122	T	0.51156	-0.8741	10	0.32370	T	0.25	.	8.7394	0.34547	0.0:0.0909:0.0:0.9091	.	122;122	B4E1P8;Q8WUT9	.;S2543_HUMAN	T	122;122;70	ENSP00000217909:I122T;ENSP00000338628:I122T	ENSP00000217909:I122T	I	+	2	0	SLC25A43	118424540	1.000000	0.71417	0.707000	0.30419	0.891000	0.51852	5.443000	0.66581	0.569000	0.29329	0.237000	0.17872	ATT	.	.		0.483	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305	
MCF2	4168	hgsc.bcm.edu	37	X	138686908	138686908	+	Splice_Site	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:138686908T>C	ENST00000370576.4	-	15	1884	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	MCF2_ENST00000370573.4_Splice_Site_p.I559V|MCF2_ENST00000370578.4_Splice_Site_p.I704V|MCF2_ENST00000338585.6_Splice_Site_p.I575V|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000414978.1_Splice_Site_p.I619V|MCF2_ENST00000520602.1_Splice_Site_p.I619V|MCF2_ENST00000519895.1_Splice_Site_p.I635V|MCF2_ENST00000536274.1_Splice_Site_p.I520V	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	559	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTCAAGAAAATGCTGTGAAAA	0.274																																					p.I635V		Atlas-SNP	.											.	MCF2	432	.	0			c.A1903G						.						26.0	26.0	26.0					X																	138686908		2201	4294	6495	SO:0001630	splice_region_variant	4168	exon19			AGAAAATGCTGTG		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1674-1A>G	chrX.hg19:g.138686908T>C		930.0	1.0		832.0	169.0	NM_001171876	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	hg19	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.167|5.167	0.216411|0.216411	0.09810|0.09810	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|T;T;T;T;T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.56|5.56	3.14|3.14	0.36123|0.36123	.|Dbl homology (DH) domain (5);	.|0.177615	.|0.49916	.|D	.|0.000128	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.16307|0.16307	0.4|0.4	0.29987|0.29987	N|N	0.817223|0.817223	.|B;B;B;B;B;B;B;B	.|0.06786	.|0.001;0.0;0.0;0.001;0.0;0.001;0.0;0.001	.|B;B;B;B;B;B;B;B	.|0.12837	.|0.008;0.008;0.005;0.008;0.003;0.008;0.007;0.008	T|T	0.11916|0.11916	-1.0568|-1.0568	5|10	.|0.33141	.|T	.|0.24	.|.	4.7507|4.7507	0.13059|0.13059	0.0:0.1637:0.159:0.6773|0.0:0.1637:0.159:0.6773	.|.	.|635;704;520;559;559;704;575;559	.|E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.|.;.;.;.;.;.;.;MCF2_HUMAN	R|V	62|619;559;520;704;619;162;635;559;575	.|ENSP00000427745:I619V;ENSP00000359608:I559V;ENSP00000438155:I520V;ENSP00000359610:I704V;ENSP00000397055:I619V;ENSP00000405848:I162V;ENSP00000430276:I635V;ENSP00000359605:I559V;ENSP00000342204:I575V	.|ENSP00000342204:I575V	H|I	-|-	2|1	0|0	MCF2|MCF2	138514574|138514574	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.184000|0.184000	0.23303|0.23303	1.377000|1.377000	0.34317|0.34317	0.251000|0.251000	0.21505|0.21505	0.441000|0.441000	0.28932|0.28932	CAT|ATT	.	.		0.274	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	Missense_Mutation
MT-ND2	4536	hgsc.bcm.edu	37	M	5038	5038	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrM:5038T>C	ENST00000361453.3	+	1	569	c.569T>C	c.(568-570)aTa>aCa	p.I190T	MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2	190					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CATAGGATGAATAATAGCAGT	0.368																																					p.M190T		Atlas-SNP	.											.	.	.	.	0			c.T569C						.																																			SO:0001583	missense	0	exon1			GATGAATAATAGC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891		ENST00000361453.3:c.569T>C	chrM.hg19:g.5038T>C	ENSP00000355046:p.Ile190Thr	23.0	0.0		36.0	4.0	ENST00000361453	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	Missense_Mutation	SNP	ENST00000361453.3	hg19																																																																																				.	.		0.368	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027	
DSC2	1824	hgsc.bcm.edu	37	18	28662231	28662231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr18:28662231delG	ENST00000280904.6	-	9	1679	c.1236delC	c.(1234-1236)accfs	p.T412fs	DSC2_ENST00000251081.6_Frame_Shift_Del_p.T412fs	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	412	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTCCTTCATTGGTTTTGGCAT	0.294																																					p.N413fs		Atlas-INDEL	.											.	DSC2	168	.	0			c.1237delA						.						82.0	86.0	85.0					18																	28662231		2202	4295	6497	SO:0001589	frameshift_variant	1824	exon9			.	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1236delC	chr18.hg19:g.28662231delG	ENSP00000280904:p.Thr412fs	107.0	0.0		129.0	17.0	NM_004949		Frame_Shift_Del	DEL	ENST00000280904.6	hg19	CCDS11892.1																																																																																			.	.		0.294	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
PLG	5340	hgsc.bcm.edu	37	6	161127481	161127481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr6:161127481delC	ENST00000308192.9	+	2	155	c.92delC	c.(91-93)gctfs	p.A31fs	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Frame_Shift_Del_p.A31fs	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	31	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCCAGGGGGCTTCACTGTTC	0.453																																					p.A31fs		Atlas-INDEL	.											.	PLG	150	.	0			c.91delG						.						116.0	116.0	116.0					6																	161127481		2203	4300	6503	SO:0001589	frameshift_variant	5340	exon2			.	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.92delC	chr6.hg19:g.161127481delC	ENSP00000308938:p.Ala31fs	582.0	0.0		614.0	134.0	NM_000301	Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	hg19	CCDS5279.1																																																																																			.	.		0.453	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
BRD7	29117	hgsc.bcm.edu	37	16	50357551	50357552	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chr16:50357551_50357552delGT	ENST00000394688.3	-	12	1548_1549	c.1389_1390delAC	c.(1387-1392)ttactgfs	p.LL463fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.LL463fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	463					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAAACATCCAGTAAACTATCTG	0.421																																					p.464_464del		Atlas-INDEL	.											.	BRD7	61	.	0			c.1390_1391del						.																																			SO:0001589	frameshift_variant	29117	exon12			.	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1389_1390delAC	chr16.hg19:g.50357551_50357552delGT	ENSP00000378180:p.Leu463fs	88.0	0.0		75.0	11.0	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	ENST00000394688.3	hg19	CCDS10742.1																																																																																			.	.		0.421	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
COL4A6	1288	hgsc.bcm.edu	37	X	107464546	107464546	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-AAD1-01A-11D-A40R-10	TCGA-DD-AAD1-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	8179bebc-0b69-4345-9585-b23ec97837a0	2397526c-9196-4093-8c57-e47020e03b20	g.chrX:107464546delG	ENST00000372216.4	-	4	306	c.206delC	c.(205-207)tctfs	p.S69fs	COL4A6_ENST00000334504.7_Frame_Shift_Del_p.S68fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.S68fs|COL4A6_ENST00000394872.2_Frame_Shift_Del_p.S68fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.S68fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	69	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAACCAGTAGAGCCAGTGAA	0.478									Alport syndrome with Diffuse Leiomyomatosis																												p.S69fs	Melanoma(87;1895 1945 2589 7165)	Atlas-INDEL	.											.	COL4A6	270	.	0			c.207delT						.						146.0	125.0	133.0					X																	107464546		2203	4300	6503	SO:0001589	frameshift_variant	1288	exon4	Familial Cancer Database		.	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.206delC	chrX.hg19:g.107464546delG	ENSP00000361290:p.Ser69fs	191.0	0.0		194.0	25.0	NM_001847	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	hg19	CCDS14541.1																																																																																			.	.		0.478	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
