#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
UBE4B	10277	hgsc.bcm.edu	37	1	10197205	10197205	+	Missense_Mutation	SNP	A	A	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:10197205A>G	ENST00000253251.8	+	16	2757	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	UBE4B_ENST00000377157.3_Missense_Mutation_p.I524V|UBE4B_ENST00000343090.6_Missense_Mutation_p.I769V					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCACCTCTCTATTCTGCCTAG	0.507																																					p.I769V		Atlas-SNP	.											.	UBE4B	233	.	0			c.A2305G						.						169.0	147.0	154.0					1																	10197205		2203	4300	6503	SO:0001583	missense	10277	exon17			CTCTCTATTCTGC	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1918A>G	chr1.hg19:g.10197205A>G	ENSP00000253251:p.Ile640Val	205.0	0.0		85.0	38.0	NM_001105562		Missense_Mutation	SNP	ENST00000253251.8	hg19	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473422	0.63737	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.42131	0.98;0.98;0.98	5.71	4.59	0.56863	Ubiquitin conjugation factor E4, core (1);	0.044914	0.85682	N	0.000000	T	0.31199	0.0789	L	0.37850	1.14	0.58432	D	0.999996	B;P;B	0.38922	0.276;0.651;0.234	B;B;B	0.37091	0.223;0.241;0.143	T	0.03597	-1.1021	10	0.20046	T	0.44	-15.8731	11.3889	0.49802	0.9295:0.0:0.0705:0.0	.	640;769;640	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	V	640;524;769	ENSP00000253251:I640V;ENSP00000366362:I524V;ENSP00000343001:I769V	ENSP00000253251:I640V	I	+	1	0	UBE4B	10119792	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.473000	0.81007	1.009000	0.39289	0.533000	0.62120	ATT	.	.		0.507	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
KIAA1522	57648	hgsc.bcm.edu	37	1	33235826	33235826	+	Missense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:33235826C>A	ENST00000373480.1	+	6	972	c.869C>A	c.(868-870)aCc>aAc	p.T290N	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.T301N|KIAA1522_ENST00000401073.2_Missense_Mutation_p.T349N	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	290										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCAGGCCACCTACCTGTCG	0.657																																					p.T349N		Atlas-SNP	.											.	KIAA1522	68	.	0			c.C1046A						.						43.0	46.0	45.0					1																	33235826		2041	4164	6205	SO:0001583	missense	57648	exon6			AGGCCACCTACCT	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.869C>A	chr1.hg19:g.33235826C>A	ENSP00000362579:p.Thr290Asn	113.0	0.0		76.0	33.0	NM_020888	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	hg19	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325896	0.60743	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.29397	1.57;1.57;1.57	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000007	T	0.51702	0.1690	L	0.55481	1.735	0.51233	D	0.999911	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.993;0.993;0.995	T	0.56962	-0.7892	10	0.87932	D	0	-17.2801	17.328	0.87255	0.0:1.0:0.0:0.0	.	301;290;349	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	N	349;301;290	ENSP00000383851:T349N;ENSP00000362580:T301N;ENSP00000362579:T290N	ENSP00000362579:T290N	T	+	2	0	KIAA1522	33008413	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.359000	0.79477	2.145000	0.66743	0.491000	0.48974	ACC	.	.		0.657	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		
CCDC18	343099	hgsc.bcm.edu	37	1	93687490	93687490	+	Silent	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:93687490C>T	ENST00000343253.7	+	16	2671	c.2169C>T	c.(2167-2169)atC>atT	p.I723I	CCDC18_ENST00000334652.5_Silent_p.I19I|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000401026.3_Silent_p.I724I|CCDC18_ENST00000557479.1_Silent_p.I842I|CCDC18_ENST00000338949.4_Silent_p.I479I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	723										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAGAAACAATCAAGGCTAGTA	0.313																																					p.I724I		Atlas-SNP	.											.	CCDC18	93	.	0			c.C2172T						.						43.0	42.0	42.0					1																	93687490		1810	4072	5882	SO:0001819	synonymous_variant	343099	exon16			AACAATCAAGGCT			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2169C>T	chr1.hg19:g.93687490C>T		268.0	0.0		137.0	28.0	NM_206886	Q6ZU17	Silent	SNP	ENST00000343253.7	hg19		.	.	.	.	.	.	.	.	.	.	C	10.55	1.380919	0.24944	.	.	ENSG00000122483	ENST00000370276	.	.	.	5.11	1.92	0.25849	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30679	-0.9970	4	.	.	.	.	5.0887	0.14696	0.1512:0.6191:0.1467:0.0831	.	.	.	.	L	777	.	.	S	+	2	0	CCDC18	93460078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.712000	0.25779	1.213000	0.43380	0.555000	0.69702	TCA	.	.		0.313	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
NTRK1	4914	hgsc.bcm.edu	37	1	156851414	156851414	+	Missense_Mutation	SNP	T	T	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:156851414T>A	ENST00000524377.1	+	17	2412	c.2371T>A	c.(2371-2373)Tac>Aac	p.Y791N	NTRK1_ENST00000392302.2_Missense_Mutation_p.Y755N|NTRK1_ENST00000358660.3_Missense_Mutation_p.Y788N|NTRK1_ENST00000368196.3_Missense_Mutation_p.Y785N|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	791		Interaction with PLCG1.			activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACCTCCTGTCTACCTGGATGT	0.692			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																											p.Y791N		Atlas-SNP	.		Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	.	NTRK1	287	.	0			c.T2371A						.						16.0	18.0	17.0					1																	156851414		2202	4298	6500	SO:0001583	missense	4914	exon17			CCTGTCTACCTGG	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2371T>A	chr1.hg19:g.156851414T>A	ENSP00000431418:p.Tyr791Asn	131.0	0.0		161.0	23.0	NM_002529	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	hg19	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654632	0.88056	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.79247	-1.21;-1.22;-1.25;-1.24	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	D	0.88351	0.6413	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.984;0.998;0.999	D	0.90951	0.4805	10	0.87932	D	0	.	13.6968	0.62585	0.0:0.0:0.0:1.0	.	788;785;791;755	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	N	755;785;791;788	ENSP00000376120:Y755N;ENSP00000357179:Y785N;ENSP00000431418:Y791N;ENSP00000351486:Y788N	ENSP00000351486:Y788N	Y	+	1	0	NTRK1	155118038	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.816000	0.86201	2.107000	0.64212	0.533000	0.62120	TAC	.	.		0.692	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
CAMK1G	57172	hgsc.bcm.edu	37	1	209785182	209785182	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:209785182C>T	ENST00000009105.1	+	11	1206	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	CAMK1G_ENST00000361322.2_Missense_Mutation_p.H321Y|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	321						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GAGGAAGCTACACATGAACCT	0.592																																					p.H321Y	Ovarian(163;530 1939 9680 28669 48710)	Atlas-SNP	.											.	CAMK1G	49	.	0			c.C961T						.						97.0	102.0	100.0					1																	209785182		2203	4300	6503	SO:0001583	missense	57172	exon11			AAGCTACACATGA		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.961C>T	chr1.hg19:g.209785182C>T	ENSP00000009105:p.His321Tyr	77.0	0.0		93.0	31.0	NM_020439	Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	hg19	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.481968	0.63849	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.68624	-0.34;-0.34	5.46	5.46	0.80206	Protein kinase-like domain (1);	0.284775	0.27181	N	0.020558	T	0.60818	0.2298	L	0.29908	0.895	0.51233	D	0.999915	B;B	0.29378	0.243;0.091	B;B	0.32211	0.142;0.091	T	0.61327	-0.7085	10	0.62326	D	0.03	.	19.4053	0.94646	0.0:1.0:0.0:0.0	.	321;321	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	Y	321	ENSP00000009105:H321Y;ENSP00000354861:H321Y	ENSP00000009105:H321Y	H	+	1	0	CAMK1G	207851805	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.081000	0.64444	2.579000	0.87056	0.558000	0.71614	CAC	.	.		0.592	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
SLC30A10	55532	hgsc.bcm.edu	37	1	220101274	220101274	+	Missense_Mutation	SNP	G	G	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:220101274G>T	ENST00000366926.3	-	1	670	c.509C>A	c.(508-510)cCt>cAt	p.P170H	SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.P170H	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	170					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CGCGCCCTGAGGCCCCCCGAA	0.766																																					p.P170H	Colon(76;360 1614 43677 51136)	Atlas-SNP	.											.	SLC30A10	58	.	0			c.C509A						.						4.0	5.0	5.0					1																	220101274		1963	3737	5700	SO:0001583	missense	55532	exon1			CCCTGAGGCCCCC	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.509C>A	chr1.hg19:g.220101274G>T	ENSP00000355893:p.Pro170His	0.0	0.0		11.0	9.0	NM_018713	Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	hg19	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180964	0.57800	.	.	ENSG00000196660	ENST00000366926;ENST00000536992	T;T	0.79454	-0.07;-1.27	3.86	0.652	0.17823	.	0.942960	0.08699	N	0.906735	T	0.51126	0.1656	N	0.00566	-1.37	0.09310	N	1	P	0.47191	0.891	P	0.51415	0.669	T	0.47459	-0.9116	9	.	.	.	-11.3218	3.676	0.08292	0.4156:0.189:0.3954:0.0	.	170	Q6XR72	ZNT10_HUMAN	H	170	ENSP00000355893:P170H;ENSP00000440627:P170H	.	P	-	2	0	SLC30A10	218167897	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.292000	0.19011	0.407000	0.25591	-0.218000	0.12543	CCT	.	.		0.766	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713	
DNAH14	127602	hgsc.bcm.edu	37	1	225510493	225510493	+	Missense_Mutation	SNP	A	A	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:225510493A>G	ENST00000445597.2	+	42	7225	c.7225A>G	c.(7225-7227)Att>Gtt	p.I2409V	DNAH14_ENST00000430092.1_Missense_Mutation_p.I3062V|DNAH14_ENST00000439375.2_Missense_Mutation_p.I3062V			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2409					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GAAAAAATTGATTAACCTTGA	0.393																																					p.I3062V		Atlas-SNP	.											.	DNAH14	300	.	0			c.A9184G						.						78.0	68.0	71.0					1																	225510493		692	1591	2283	SO:0001583	missense	127602	exon60			AAATTGATTAACC	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.7225A>G	chr1.hg19:g.225510493A>G	ENSP00000409472:p.Ile2409Val	108.0	0.0		105.0	18.0	NM_001373	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	hg19		.	.	.	.	.	.	.	.	.	.	A	5.770	0.326521	0.10900	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.75260	-0.92;-0.92;-0.92	5.73	4.62	0.57501	.	.	.	.	.	T	0.47728	0.1461	N	0.05012	-0.13	0.80722	D	1	B	0.19200	0.034	B	0.22880	0.042	T	0.43245	-0.9403	9	0.10902	T	0.67	.	5.6692	0.17713	0.769:0.0:0.231:0.0	.	3062	Q0VDD8-4	.	V	2409;3062;3062	ENSP00000409472:I2409V;ENSP00000414402:I3062V;ENSP00000392061:I3062V	ENSP00000414402:I3062V	I	+	1	0	DNAH14	223577116	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.207000	0.32333	2.179000	0.69175	0.491000	0.48974	ATT	.	.		0.393	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
PCNXL2	80003	hgsc.bcm.edu	37	1	233122171	233122171	+	Silent	SNP	C	C	A	rs371436171		TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr1:233122171C>A	ENST00000258229.9	-	33	6141	c.5907G>T	c.(5905-5907)acG>acT	p.T1969T	PCNXL2_ENST00000344698.2_Silent_p.T621T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1969	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGAGGTGGACGTCTGGAGGA	0.662																																					p.T1969T		Atlas-SNP	.											.	PCNXL2	204	.	0			c.G5907T						.						20.0	27.0	25.0					1																	233122171		2056	4186	6242	SO:0001819	synonymous_variant	80003	exon33			GGTGGACGTCTGG	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5907G>T	chr1.hg19:g.233122171C>A		153.0	0.0		172.0	60.0	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	hg19	CCDS44335.1																																																																																			.	.		0.662	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
DYSF	8291	hgsc.bcm.edu	37	2	71871124	71871124	+	Silent	SNP	A	A	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:71871124A>G	ENST00000258104.3	+	41	4717	c.4440A>G	c.(4438-4440)aaA>aaG	p.K1480K	DYSF_ENST00000429174.2_Silent_p.K1501K|DYSF_ENST00000409651.1_Silent_p.K1512K|DYSF_ENST00000410041.1_Silent_p.K1498K|DYSF_ENST00000409762.1_Silent_p.K1497K|DYSF_ENST00000413539.2_Silent_p.K1511K|DYSF_ENST00000409366.1_Silent_p.K1502K|DYSF_ENST00000409744.1_Silent_p.K1488K|DYSF_ENST00000394120.2_Silent_p.K1481K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.K1519K|DYSF_ENST00000409582.3_Silent_p.K1518K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1480					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGTGGAGCAAATTCTTTGCCT	0.493																																					p.K1519K		Atlas-SNP	.											.	DYSF	536	.	0			c.A4557G						.						98.0	81.0	87.0					2																	71871124		2203	4300	6503	SO:0001819	synonymous_variant	8291	exon42			GAGCAAATTCTTT	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4440A>G	chr2.hg19:g.71871124A>G		227.0	0.0		165.0	37.0	NM_001130987	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	hg19	CCDS1918.1																																																																																			.	.		0.493	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
XIRP2	129446	hgsc.bcm.edu	37	2	168101985	168101985	+	Silent	SNP	T	T	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:168101985T>C	ENST00000409195.1	+	9	4172	c.4083T>C	c.(4081-4083)tcT>tcC	p.S1361S	XIRP2_ENST00000295237.9_Silent_p.S1361S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S1139S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1186					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						CATTAGACTCTATTAATAAAT	0.368																																					p.S1361S		Atlas-SNP	.											.	XIRP2	914	.	0			c.T4083C						.						67.0	63.0	65.0					2																	168101985		1845	4088	5933	SO:0001819	synonymous_variant	129446	exon9			AGACTCTATTAAT	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.4083T>C	chr2.hg19:g.168101985T>C		157.0	0.0		90.0	4.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	hg19	CCDS42769.1																																																																																			.	.		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	hgsc.bcm.edu	37	2	170076975	170076975	+	Silent	SNP	A	A	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:170076975A>G	ENST00000263816.3	-	34	5922	c.5637T>C	c.(5635-5637)gaT>gaC	p.D1879D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1879					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACGAGCAGGATCAACAGTTA	0.418																																					p.D1879D		Atlas-SNP	.											.	LRP2	751	.	0			c.T5637C						.						131.0	115.0	120.0					2																	170076975		2203	4300	6503	SO:0001819	synonymous_variant	4036	exon34			AGCAGGATCAACA		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5637T>C	chr2.hg19:g.170076975A>G		148.0	0.0		79.0	7.0	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	hg19	CCDS2232.1																																																																																			.	.		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	hgsc.bcm.edu	37	2	179453288	179453288	+	Missense_Mutation	SNP	G	G	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:179453288G>T	ENST00000591111.1	-	254	58465	c.58241C>A	c.(58240-58242)cCg>cAg	p.P19414Q	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12182Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12115Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11990Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18487Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21055Q|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19414	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCACCACCGGTCTTGAAGG	0.403																																					p.P21055Q		Atlas-SNP	.											.	TTN	18412	.	0			c.C63164A						.						209.0	195.0	199.0					2																	179453288		1882	4110	5992	SO:0001583	missense	7273	exon304			ACCACCGGTCTTG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58241C>A	chr2.hg19:g.179453288G>T	ENSP00000465570:p.Pro19414Gln	236.0	0.0		138.0	41.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.77	2.633463	0.47049	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	6.16	6.16	0.99307	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75236	0.3822	M	0.87456	2.885	0.58432	D	0.999999	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	P;P;P;P	0.58013	0.831;0.831;0.831;0.831	T	0.77950	-0.2395	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	11990;12115;12182;19414	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18487;11990;12182;12115;11988	ENSP00000343764:P18487Q;ENSP00000434586:P11990Q;ENSP00000340554:P12182Q;ENSP00000352154:P12115Q	ENSP00000340554:P12182Q	P	-	2	0	TTN	179161534	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CCG	.	.		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FN1	2335	hgsc.bcm.edu	37	2	216271096	216271096	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:216271096C>T	ENST00000359671.1	-	19	3116	c.2851G>A	c.(2851-2853)Ggg>Agg	p.G951R	FN1_ENST00000354785.4_Missense_Mutation_p.G951R|FN1_ENST00000357867.4_Missense_Mutation_p.G951R|FN1_ENST00000336916.4_Missense_Mutation_p.G951R|FN1_ENST00000346544.3_Missense_Mutation_p.G951R|FN1_ENST00000357009.2_Missense_Mutation_p.G951R|FN1_ENST00000421182.1_Missense_Mutation_p.G951R|FN1_ENST00000345488.5_Missense_Mutation_p.G951R|FN1_ENST00000446046.1_Missense_Mutation_p.G951R|FN1_ENST00000443816.1_Missense_Mutation_p.G951R|FN1_ENST00000356005.4_Missense_Mutation_p.G951R|FN1_ENST00000323926.6_Missense_Mutation_p.G951R|FN1_ENST00000432072.2_Missense_Mutation_p.G951R			P02751	FINC_HUMAN	fibronectin 1	951	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCCTCTGCCCGTGCTCGCCA	0.587																																					p.G951R		Atlas-SNP	.											.	FN1	521	.	0			c.G2851A						.						65.0	61.0	63.0					2																	216271096		2203	4300	6503	SO:0001583	missense	2335	exon19			TCTGCCCGTGCTC		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2851G>A	chr2.hg19:g.216271096C>T	ENSP00000352696:p.Gly951Arg	84.0	0.0		93.0	32.0	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.287730	0.95517	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	6.03	6.03	0.97812	.	0.091260	0.47093	D	0.000247	T	0.63010	0.2475	L	0.31065	0.9	0.80722	D	1	D;D;D;D;D;P;D;D;D;D	0.89917	1.0;0.98;0.998;1.0;1.0;0.946;1.0;1.0;1.0;1.0	D;P;D;D;D;P;D;D;D;D	0.97110	0.995;0.593;0.927;1.0;0.997;0.507;1.0;1.0;1.0;1.0	T	0.53330	-0.8454	10	0.19147	T	0.46	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	951;951;951;951;951;951;951;951;951;951	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	R	951	ENSP00000394423:G951R;ENSP00000323534:G951R;ENSP00000338200:G951R;ENSP00000350534:G951R;ENSP00000346839:G951R;ENSP00000352696:G951R;ENSP00000265312:G951R;ENSP00000273049:G951R;ENSP00000349509:G951R;ENSP00000410422:G951R;ENSP00000415018:G951R;ENSP00000399538:G951R;ENSP00000348285:G951R	ENSP00000265313:G951R	G	-	1	0	FN1	215979341	0.991000	0.36638	0.322000	0.25334	0.994000	0.84299	4.181000	0.58303	2.861000	0.98227	0.655000	0.94253	GGG	.	.		0.587	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
C3orf33	285315	hgsc.bcm.edu	37	3	155493583	155493583	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr3:155493583C>T	ENST00000340171.2	-	3	327	c.229G>A	c.(229-231)Gtt>Att	p.V77I	C3orf33_ENST00000534941.1_Missense_Mutation_p.V34I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	77					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTAGTTTAACATTTCTTCTT	0.299																																					p.V34I		Atlas-SNP	.											.	C3orf33	18	.	0			c.G100A						.						98.0	97.0	97.0					3																	155493583		1803	4058	5861	SO:0001583	missense	285315	exon4			GTTTAACATTTCT	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.229G>A	chr3.hg19:g.155493583C>T	ENSP00000342512:p.Val77Ile	181.0	0.0		95.0	19.0	NM_173657	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	hg19		.	.	.	.	.	.	.	.	.	.	C	14.99	2.700126	0.48307	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46451	0.87;0.87	5.45	4.58	0.56647	.	0.134283	0.50627	D	0.000114	T	0.53110	0.1776	L	0.48642	1.525	0.33971	D	0.646824	D	0.76494	0.999	D	0.66497	0.944	T	0.62576	-0.6825	10	0.29301	T	0.29	-4.7845	13.0044	0.58696	0.0:0.921:0.0:0.079	.	77	Q6P1S2	CC033_HUMAN	I	34;77;77	ENSP00000445446:V34I;ENSP00000342512:V77I	ENSP00000342512:V77I	V	-	1	0	C3orf33	156976277	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	3.477000	0.53151	1.298000	0.44778	0.655000	0.94253	GTT	.	.		0.299	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657	
SI	6476	hgsc.bcm.edu	37	3	164754186	164754186	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr3:164754186C>T	ENST00000264382.3	-	22	2568	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	836	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTTTAGTTTCTCCATCATCC	0.348										HNSCC(35;0.089)																											p.E836K		Atlas-SNP	.											.	SI	500	.	0			c.G2506A						.						114.0	116.0	115.0					3																	164754186		2203	4299	6502	SO:0001583	missense	6476	exon22			TAGTTTCTCCATC	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2506G>A	chr3.hg19:g.164754186C>T	ENSP00000264382:p.Glu836Lys	142.0	0.0		86.0	21.0	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431714	0.62844	.	.	ENSG00000090402	ENST00000264382	D	0.90261	-2.64	4.52	4.52	0.55395	.	0.055638	0.64402	D	0.000001	D	0.89567	0.6752	M	0.77712	2.385	0.44067	D	0.996813	B	0.28378	0.209	B	0.29862	0.108	D	0.88537	0.3107	10	0.59425	D	0.04	.	10.1817	0.42972	0.0:0.9063:0.0:0.0937	.	836	P14410	SUIS_HUMAN	K	836	ENSP00000264382:E836K	ENSP00000264382:E836K	E	-	1	0	SI	166236880	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.974000	0.63771	2.484000	0.83849	0.650000	0.86243	GAA	.	.		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
TRIM2	23321	hgsc.bcm.edu	37	4	154214187	154214187	+	Silent	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr4:154214187G>A	ENST00000437508.2	+	4	627	c.426G>A	c.(424-426)acG>acA	p.T142T	TRIM2_ENST00000338700.5_Silent_p.T169T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	142					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGGAGTGCACGGAGGGGGAGC	0.557																																					p.T169T		Atlas-SNP	.											.	TRIM2	105	.	0			c.G507A						.						63.0	54.0	57.0					4																	154214187		2203	4300	6503	SO:0001819	synonymous_variant	23321	exon4			GTGCACGGAGGGG	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.426G>A	chr4.hg19:g.154214187G>A		179.0	0.0		110.0	32.0	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	hg19	CCDS47147.1																																																																																			.	.		0.557	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
TENM3	55714	hgsc.bcm.edu	37	4	183664409	183664409	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr4:183664409C>T	ENST00000511685.1	+	19	3589	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1156					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGCGAAGGCGCAGCATTTC	0.522																																					p.R1156C		Atlas-SNP	.											.	.	.	.	0			c.C3466T						.						77.0	80.0	79.0					4																	183664409		2040	4197	6237	SO:0001583	missense	55714	exon18			CGAAGGCGCAGCA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3466C>T	chr4.hg19:g.183664409C>T	ENSP00000424226:p.Arg1156Cys	139.0	0.0		135.0	43.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332184	0.81801	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91011	-2.77;-2.77	5.45	5.45	0.79879	.	.	.	.	.	D	0.96030	0.8707	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96158	0.9113	9	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	1156	Q9P273	TEN3_HUMAN	C	1156	ENSP00000424226:R1156C;ENSP00000385276:R1156C	ENSP00000385276:R1156C	R	+	1	0	ODZ3	183901403	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	3.770000	0.55310	2.838000	0.97847	0.561000	0.74099	CGC	.	.		0.522	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
NPR3	4883	hgsc.bcm.edu	37	5	32724927	32724927	+	Splice_Site	SNP	G	G	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr5:32724927G>T	ENST00000265074.8	+	2	1235		c.e2+1		NPR3_ENST00000434067.2_Splice_Site|NPR3_ENST00000415685.2_Splice_Site|NPR3_ENST00000415167.2_Splice_Site	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCTTCCTATGGTAACTCTGCT	0.498																																					.		Atlas-SNP	.											.	NPR3	65	.	0			c.244+1G>T						.						182.0	189.0	187.0					5																	32724927		2154	4261	6415	SO:0001630	splice_region_variant	4883	exon2			CCTATGGTAACTC		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.892+1G>T	chr5.hg19:g.32724927G>T		234.0	0.0		173.0	36.0	NM_001204376	A2RRD1|B4DT84|E7EPG9	Splice_Site	SNP	ENST00000265074.8	hg19	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604504	0.87157	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7103	0.91653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR3	32760684	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.553000	0.90686	2.472000	0.83506	0.655000	0.94253	.	.	.		0.498	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	Intron
GABRB2	2561	hgsc.bcm.edu	37	5	160721290	160721290	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr5:160721290A>T	ENST00000393959.1	-	10	1336	c.1337T>A	c.(1336-1338)tTg>tAg	p.L446*	GABRB2_ENST00000274547.2_Nonsense_Mutation_p.L446*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.L345*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.L408*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.L248*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.L408*			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	446					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGCCTGGGCAACCCAGCTTT	0.527																																					p.L446X		Atlas-SNP	.											.	GABRB2	161	.	0			c.T1337A						.						106.0	95.0	99.0					5																	160721290		2203	4300	6503	SO:0001587	stop_gained	2561	exon11			CTGGGCAACCCAG		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1337T>A	chr5.hg19:g.160721290A>T	ENSP00000377531:p.Leu446*	231.0	0.0		135.0	39.0	NM_021911	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Nonsense_Mutation	SNP	ENST00000393959.1	hg19	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	A	37	6.062430	0.97246	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.49	5.49	0.81192	.	0.246852	0.24136	N	0.041210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	15.5792	0.76418	1.0:0.0:0.0:0.0	.	.	.	.	X	446;446;408;408;345;248	.	ENSP00000274547:L446X	L	-	2	0	GABRB2	160653868	0.989000	0.36119	0.733000	0.30861	0.879000	0.50718	6.989000	0.76219	2.086000	0.62901	0.528000	0.53228	TTG	.	.		0.527	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
ZKSCAN4	387032	hgsc.bcm.edu	37	6	28219692	28219693	+	Silent	DNP	GG	GG	AT			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr6:28219692_28219693GG>AT	ENST00000377294.2	-	1	309_310	c.66_67CC>AT	c.(64-69)ctCCtg>ctATtg	p.22_23LL>LL	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	22					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTCACGGTCAGGAGCCCCGTCT	0.634																																					p.L23L|p.L22L		Atlas-SNP	.											.	ZKSCAN4	42	.	0			c.C67T|c.C66A						.																																			SO:0001819	synonymous_variant	387032	exon1			CGGTCAGGAGCCC|GGTCAGGAGCCCC	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.66_67delinsAT	chr6.hg19:g.28219692_28219693delinsAT		91.0	0.0		74.0	21.0|20.0	NM_019110	B2RE32|Q5U7L4	Silent	SNP	ENST00000377294.2	hg19	CCDS4647.1																																																																																			.	.		0.634	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
UBE3D	90025	hgsc.bcm.edu	37	6	83728705	83728705	+	Missense_Mutation	SNP	T	T	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr6:83728705T>C	ENST00000369747.3	-	8	1119	c.997A>G	c.(997-999)Agc>Ggc	p.S333G		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	333					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										TCATTCCTGCTTTTGATGCAT	0.363																																					p.S333G		Atlas-SNP	.											.	.	.	.	0			c.A997G						.						112.0	111.0	111.0					6																	83728705		2203	4300	6503	SO:0001583	missense	90025	exon8			TCCTGCTTTTGAT	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.997A>G	chr6.hg19:g.83728705T>C	ENSP00000358762:p.Ser333Gly	115.0	0.0		71.0	22.0	NM_198920	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	hg19	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	T	8.344	0.829345	0.16749	.	.	ENSG00000118420	ENST00000369747	T	0.31769	1.48	5.92	3.5	0.40072	.	0.363269	0.36134	N	0.002772	T	0.13756	0.0333	L	0.47716	1.5	0.80722	D	1	B;B	0.27013	0.125;0.166	B;B	0.34452	0.183;0.138	T	0.03933	-1.0991	10	0.31617	T	0.26	-5.8907	8.7172	0.34419	0.0:0.1527:0.0:0.8473	.	312;333	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	G	333	ENSP00000358762:S333G	ENSP00000358762:S333G	S	-	1	0	UBE2CBP	83785424	0.872000	0.30054	0.775000	0.31657	0.012000	0.07955	1.025000	0.30090	0.483000	0.27608	-0.276000	0.10085	AGC	.	.		0.363	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920	
SYNE1	23345	hgsc.bcm.edu	37	6	152668272	152668272	+	Silent	SNP	C	C	G	rs148493518	byFrequency	TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr6:152668272C>G	ENST00000367255.5	-	73	12601	c.12000G>C	c.(11998-12000)gcG>gcC	p.A4000A	SYNE1_ENST00000448038.1_Silent_p.A3929A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.A4000A|SYNE1_ENST00000423061.1_Silent_p.A3929A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4000					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTTAAGTTTCGCTTGCAGGT	0.473										HNSCC(10;0.0054)																											p.A4000A		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G12000C						.						181.0	153.0	163.0					6																	152668272		2203	4300	6503	SO:0001819	synonymous_variant	23345	exon73			AAGTTTCGCTTGC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12000G>C	chr6.hg19:g.152668272C>G		209.0	0.0		122.0	29.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	hg19	CCDS5236.2																																																																																			.	C|0.995;T|0.005		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
PCLO	27445	hgsc.bcm.edu	37	7	82585585	82585585	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:82585585C>T	ENST00000333891.9	-	5	5021	c.4684G>A	c.(4684-4686)Gaa>Aaa	p.E1562K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1562K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCACTCATTTCTATGATTTGT	0.428																																					p.E1562K		Atlas-SNP	.											.	PCLO	1506	.	0			c.G4684A						.						153.0	142.0	146.0					7																	82585585		1917	4133	6050	SO:0001583	missense	27445	exon5			TCATTTCTATGAT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4684G>A	chr7.hg19:g.82585585C>T	ENSP00000334319:p.Glu1562Lys	110.0	0.0		68.0	12.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732022	0.48939	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20738	2.05;2.05	5.26	5.26	0.73747	.	.	.	.	.	T	0.29620	0.0739	M	0.73217	2.22	0.80722	D	1	P;P	0.38504	0.634;0.634	B;B	0.36845	0.234;0.234	T	0.17745	-1.0359	9	0.87932	D	0	.	18.8645	0.92285	0.0:1.0:0.0:0.0	.	1562;1562	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1493;1562;1562	ENSP00000334319:E1562K;ENSP00000388393:E1562K	ENSP00000334319:E1562K	E	-	1	0	PCLO	82423521	1.000000	0.71417	0.715000	0.30552	0.997000	0.91878	5.943000	0.70211	2.458000	0.83093	0.655000	0.94253	GAA	.	.		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3D	223117	hgsc.bcm.edu	37	7	84628841	84628841	+	Missense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:84628841C>A	ENST00000284136.6	-	17	2292	c.2249G>T	c.(2248-2250)tGg>tTg	p.W750L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	750	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATGTGCTTCCACTTTGGGCC	0.488																																					p.W750L	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.G2249T						.						172.0	142.0	153.0					7																	84628841		2203	4300	6503	SO:0001583	missense	223117	exon17			TGCTTCCACTTTG	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2249G>T	chr7.hg19:g.84628841C>A	ENSP00000284136:p.Trp750Leu	357.0	0.0		232.0	64.0	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745776	0.49151	.	.	ENSG00000153993	ENST00000284136	T	0.28666	1.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	M	0.73217	2.22	0.80722	D	1	P	0.36599	0.56	B	0.31547	0.132	T	0.11991	-1.0565	10	0.23891	T	0.37	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	750	O95025	SEM3D_HUMAN	L	750	ENSP00000284136:W750L	ENSP00000284136:W750L	W	-	2	0	SEMA3D	84466777	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.814000	0.96858	0.655000	0.94253	TGG	.	.		0.488	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SPAM1	6677	hgsc.bcm.edu	37	7	123599552	123599552	+	Silent	SNP	C	C	G	rs563527585		TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:123599552C>G	ENST00000439500.1	+	6	1672	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	SPAM1_ENST00000402183.2_Silent_p.L353L|SPAM1_ENST00000223028.7_Silent_p.L353L|SPAM1_ENST00000340011.5_Silent_p.L353L|SPAM1_ENST00000460182.1_Silent_p.L353L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	353					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTGCTTGCTCCTAGACAATT	0.348																																					p.L353L		Atlas-SNP	.											.	SPAM1	195	.	0			c.C1059G						.						57.0	55.0	56.0					7																	123599552		2203	4300	6503	SO:0001819	synonymous_variant	6677	exon5			CTTGCTCCTAGAC	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1059C>G	chr7.hg19:g.123599552C>G		76.0	0.0		49.0	14.0	NM_153189	Q8TC30	Silent	SNP	ENST00000439500.1	hg19	CCDS5791.1																																																																																			.	.		0.348	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
EPHA1	2041	hgsc.bcm.edu	37	7	143094441	143094441	+	Missense_Mutation	SNP	T	T	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:143094441T>A	ENST00000275815.3	-	10	1813	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	576					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCTGCCTCTGCCGCTGGGC	0.662																																					p.Q576L		Atlas-SNP	.											.	EPHA1	193	.	0			c.A1727T						.						23.0	16.0	18.0					7																	143094441		1992	3862	5854	SO:0001583	missense	2041	exon10			TGCCTCTGCCGCT	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1727A>T	chr7.hg19:g.143094441T>A	ENSP00000275815:p.Gln576Leu	103.0	0.0		42.0	13.0	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	hg19	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	T	4.980	0.181933	0.09495	.	.	ENSG00000146904	ENST00000275815	T	0.10668	2.85	5.24	-1.5	0.08691	.	1.170610	0.06380	N	0.715114	T	0.05090	0.0136	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	10	0.59425	D	0.04	.	4.6158	0.12427	0.1496:0.2942:0.0:0.5562	.	576	P21709	EPHA1_HUMAN	L	576	ENSP00000275815:Q576L	ENSP00000275815:Q576L	Q	-	2	0	EPHA1	142804563	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	-0.234000	0.09028	-0.212000	0.10109	-0.274000	0.10170	CAG	.	.		0.662	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
UBE3C	9690	hgsc.bcm.edu	37	7	156974970	156974970	+	Silent	SNP	T	T	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:156974970T>C	ENST00000348165.5	+	8	1299	c.939T>C	c.(937-939)ggT>ggC	p.G313G	UBE3C_ENST00000389103.4_Silent_p.G270G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	313					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAAGAGTGGTGGAGCACCCT	0.418																																					p.G313G		Atlas-SNP	.											.	UBE3C	124	.	0			c.T939C						.						99.0	97.0	98.0					7																	156974970		2203	4300	6503	SO:0001819	synonymous_variant	9690	exon8			GAGTGGTGGAGCA	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.939T>C	chr7.hg19:g.156974970T>C		314.0	0.0		157.0	43.0	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	hg19	CCDS34789.1																																																																																			.	.		0.418	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
C9orf131	138724	hgsc.bcm.edu	37	9	35044763	35044763	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr9:35044763G>T	ENST00000312292.5	+	2	2184	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.E640*|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.E665*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	713										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCAACAAAGAGAAGTTCCCCA	0.572																																					p.E713X		Atlas-SNP	.											.	C9orf131	71	.	0			c.G2137T						.						64.0	62.0	63.0					9																	35044763		2203	4300	6503	SO:0001587	stop_gained	138724	exon2			CAAAGAGAAGTTC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2137G>T	chr9.hg19:g.35044763G>T	ENSP00000308279:p.Glu713*	46.0	0.0		18.0	4.0	NM_203299	A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonsense_Mutation	SNP	ENST00000312292.5	hg19	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	35	5.530470	0.96446	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	.	.	.	3.94	3.04	0.35103	.	0.672301	0.13014	N	0.420636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-1.91	7.7894	0.29112	0.1131:0.0:0.8869:0.0	.	.	.	.	X	665;640;713;188	.	ENSP00000308279:E713X	E	+	1	0	C9orf131	35034763	0.002000	0.14202	0.027000	0.17364	0.592000	0.36648	0.269000	0.18589	1.246000	0.43901	-0.150000	0.13652	GAA	.	.		0.572	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
COL5A1	1289	hgsc.bcm.edu	37	9	137710559	137710559	+	Missense_Mutation	SNP	G	G	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr9:137710559G>T	ENST00000371817.3	+	55	4702	c.4288G>T	c.(4288-4290)Gcc>Tcc	p.A1430S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1430	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCCAGGGGGCCCCTGGGAA	0.701																																					p.A1430S		Atlas-SNP	.											.	COL5A1	323	.	0			c.G4288T						.						11.0	14.0	13.0					9																	137710559		2188	4282	6470	SO:0001583	missense	1289	exon55			CAGGGGGCCCCTG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4288G>T	chr9.hg19:g.137710559G>T	ENSP00000360882:p.Ala1430Ser	113.0	0.0		90.0	7.0	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340866	0.41498	.	.	ENSG00000130635	ENST00000371817	D	0.96104	-3.91	4.89	4.89	0.63831	.	0.239724	0.35151	U	0.003409	D	0.90239	0.6948	N	0.20845	0.615	0.34685	D	0.725133	B	0.14438	0.01	B	0.11329	0.006	D	0.89462	0.3737	10	0.32370	T	0.25	.	13.3043	0.60342	0.0:0.2932:0.7068:0.0	.	1430	P20908	CO5A1_HUMAN	S	1430	ENSP00000360882:A1430S	ENSP00000360882:A1430S	A	+	1	0	COL5A1	136850380	1.000000	0.71417	0.988000	0.46212	0.661000	0.39034	1.795000	0.38784	2.258000	0.74832	0.448000	0.29417	GCC	.	.		0.701	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
DDX50	79009	hgsc.bcm.edu	37	10	70706314	70706314	+	Silent	SNP	A	A	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr10:70706314A>G	ENST00000373585.3	+	15	2249	c.2142A>G	c.(2140-2142)cgA>cgG	p.R714R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	714	Arg-rich.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CAGGAAGTCGACAAGATGGTA	0.522																																					p.R714R		Atlas-SNP	.											.	DDX50	65	.	0			c.A2142G						.						74.0	75.0	75.0					10																	70706314		2203	4300	6503	SO:0001819	synonymous_variant	79009	exon15			AAGTCGACAAGAT	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.2142A>G	chr10.hg19:g.70706314A>G		121.0	0.0		72.0	8.0	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	ENST00000373585.3	hg19	CCDS7283.1																																																																																			.	.		0.522	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
OR52E6	390078	hgsc.bcm.edu	37	11	5863124	5863124	+	Missense_Mutation	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr11:5863124G>A	ENST00000329322.5	-	1	3	c.4C>T	c.(4-6)Cct>Tct	p.P2S	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.P6S	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCTATAGGCATTCTTTCT	0.423																																					p.P2S		Atlas-SNP	.											.	OR52E6	70	.	0			c.C4T						.						55.0	52.0	53.0					11																	5863124		2155	4284	6439	SO:0001583	missense	390078	exon1			CTATAGGCATTCT	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.4C>T	chr11.hg19:g.5863124G>A	ENSP00000328878:p.Pro2Ser	116.0	0.0		73.0	24.0	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	hg19	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.800645	0.00611	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.38240	9.91;1.15	3.34	-0.608	0.11611	.	2.039350	0.02356	N	0.076414	T	0.09069	0.0224	N	0.00191	-1.88	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13926	-1.0491	10	0.19147	T	0.46	.	3.8657	0.09015	0.5808:0.186:0.2332:0.0	.	2	Q96RD3	O52E6_HUMAN	S	2;6	ENSP00000328878:P2S;ENSP00000369279:P6S	ENSP00000328878:P2S	P	-	1	0	OR52E6	5819700	0.005000	0.15991	0.002000	0.10522	0.101000	0.19017	-0.718000	0.04980	-0.241000	0.09681	-0.499000	0.04595	CCT	.	.		0.423	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	
EPS8	2059	hgsc.bcm.edu	37	12	15776172	15776172	+	Missense_Mutation	SNP	T	T	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr12:15776172T>C	ENST00000281172.5	-	20	2711	c.2275A>G	c.(2275-2277)Aat>Gat	p.N759D	EPS8_ENST00000540613.1_Missense_Mutation_p.N499D|EPS8_ENST00000543523.1_Missense_Mutation_p.N759D|EPS8_ENST00000543612.1_Missense_Mutation_p.N759D|EPS8_ENST00000542903.1_Missense_Mutation_p.N499D	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	759	Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCATCCTTATTGAGAGAGAAA	0.383																																					p.N759D		Atlas-SNP	.											.	EPS8	70	.	0			c.A2275G						.						117.0	120.0	119.0					12																	15776172		2203	4300	6503	SO:0001583	missense	2059	exon20			CCTTATTGAGAGA	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2275A>G	chr12.hg19:g.15776172T>C	ENSP00000281172:p.Asn759Asp	139.0	0.0		86.0	17.0	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	hg19	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106196	0.77096	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.66	5.66	0.87406	.	0.050677	0.85682	D	0.000000	T	0.30541	0.0768	M	0.75615	2.305	0.50813	D	0.999895	P	0.50156	0.932	B	0.42738	0.396	T	0.15752	-1.0426	10	0.56958	D	0.05	-30.8889	15.8893	0.79279	0.0:0.0:0.0:1.0	.	759	Q12929	EPS8_HUMAN	D	759;759;759;499;499	ENSP00000441867:N759D;ENSP00000281172:N759D;ENSP00000442388:N759D;ENSP00000441888:N499D;ENSP00000437806:N499D	ENSP00000281172:N759D	N	-	1	0	EPS8	15667439	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.344000	0.79328	2.153000	0.67306	0.528000	0.53228	AAT	.	.		0.383	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
LRRK2	120892	hgsc.bcm.edu	37	12	40692294	40692294	+	Splice_Site	SNP	G	G	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr12:40692294G>C	ENST00000298910.7	+	24	3404	c.3346G>C	c.(3346-3348)Gga>Cga	p.G1116R	LRRK2_ENST00000343742.2_Splice_Site_p.G1116R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1116					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATTTTAGAAGGGTAAGAAAG	0.358																																					p.G1116R		Atlas-SNP	.											LRRK2_ENST00000298910,NS,carcinoma,0,2	LRRK2	763	.	0			c.G3346C						.						91.0	92.0	92.0					12																	40692294		2203	4300	6503	SO:0001630	splice_region_variant	120892	exon24			TTAGAAGGGTAAG	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3347+1G>C	chr12.hg19:g.40692294G>C		104.0	0.0		62.0	16.0	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	hg19	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227664	0.79576	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.26067	2.09;1.76	5.76	4.84	0.62591	.	0.110577	0.64402	D	0.000006	T	0.52517	0.1739	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.53114	-0.8484	10	0.51188	T	0.08	.	16.2336	0.82360	0.0:0.0:0.8667:0.1333	.	1116;1116	E9PC85;Q5S007	.;LRRK2_HUMAN	R	1116	ENSP00000341930:G1116R;ENSP00000298910:G1116R	ENSP00000298910:G1116R	G	+	1	0	LRRK2	38978561	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.091000	0.76923	2.714000	0.92807	0.591000	0.81541	GGA	.	.		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation
KRT2	3849	hgsc.bcm.edu	37	12	53038813	53038813	+	Missense_Mutation	SNP	G	G	C			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr12:53038813G>C	ENST00000309680.3	-	9	1931	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	637	Tail.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTATCTAAAAGAGAAGGTCAC	0.542																																					p.S637C		Atlas-SNP	.											.	KRT2	94	.	0			c.C1910G						.						50.0	56.0	54.0					12																	53038813		2203	4300	6503	SO:0001583	missense	3849	exon9			CTAAAAGAGAAGG		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1910C>G	chr12.hg19:g.53038813G>C	ENSP00000310861:p.Ser637Cys	70.0	0.0		29.0	9.0	NM_000423	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442643	0.12164	.	.	ENSG00000172867	ENST00000309680	D	0.83163	-1.69	3.87	3.87	0.44632	.	.	.	.	.	T	0.68007	0.2954	N	0.08118	0	0.32373	N	0.555547	B	0.21821	0.061	B	0.19148	0.024	T	0.72194	-0.4364	9	0.87932	D	0	.	11.5326	0.50618	0.0:0.0:1.0:0.0	.	637	P35908	K22E_HUMAN	C	637	ENSP00000310861:S637C	ENSP00000310861:S637C	S	-	2	0	KRT2	51325080	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	2.760000	0.47581	2.184000	0.69523	0.561000	0.74099	TCT	.	.		0.542	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
EP400	57634	hgsc.bcm.edu	37	12	132546658	132546658	+	Missense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr12:132546658C>A	ENST00000333577.4	+	47	8105	c.7996C>A	c.(7996-7998)Ccg>Acg	p.P2666T	EP400_ENST00000389561.2_Missense_Mutation_p.P2630T|EP400_ENST00000332482.4_Missense_Mutation_p.P2593T|EP400_ENST00000330386.6_Missense_Mutation_p.P2549T|EP400_ENST00000389562.2_Missense_Mutation_p.P2629T			Q96L91	EP400_HUMAN	E1A binding protein p400	2666	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTTCTAGACGCCGGGAGGCTC	0.612																																					p.P2630T		Atlas-SNP	.											.	EP400	370	.	0			c.C7888A						.						26.0	29.0	28.0					12																	132546658		2200	4299	6499	SO:0001583	missense	57634	exon46			TAGACGCCGGGAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7996C>A	chr12.hg19:g.132546658C>A	ENSP00000333602:p.Pro2666Thr	50.0	0.0		34.0	19.0	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	hg19		.	.	.	.	.	.	.	.	.	.	C	3.400	-0.122372	0.06795	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	4.8	-1.75	0.08031	.	0.307023	0.32503	N	0.006013	T	0.77928	0.4204	N	0.04508	-0.205	0.09310	N	1	P;P;D	0.69078	0.629;0.629;0.997	B;B;P	0.61275	0.331;0.331;0.886	T	0.73694	-0.3902	10	0.09084	T	0.74	.	3.923	0.09251	0.263:0.2513:0.0:0.4857	.	2630;2549;2629	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	2666;2630;2629;2593;2549;2630	ENSP00000333602:P2666T;ENSP00000374212:P2630T;ENSP00000374213:P2629T;ENSP00000331737:P2593T;ENSP00000330620:P2549T	ENSP00000330620:P2549T	P	+	1	0	EP400	131112611	0.185000	0.23213	0.011000	0.14972	0.220000	0.24768	0.602000	0.24134	-0.085000	0.12573	0.561000	0.74099	CCG	.	.		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
N4BP2L1	90634	hgsc.bcm.edu	37	13	32972543	32972543	+	IGR	SNP	T	T	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr13:32972543T>G	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.F3298C|BRCA2_ENST00000544455.1_Missense_Mutation_p.F3298C	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CAGAAGGCATTTCAGCCACCA	0.403																																					p.F3298C		Atlas-SNP	.											.	BRCA2	812	.	0			c.T9893G						.						124.0	124.0	124.0					13																	32972543		2203	4300	6503	SO:0001628	intergenic_variant	675	exon27			AGGCATTTCAGCC	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		chr13.hg19:g.32972543T>G		146.0	0.0		101.0	6.0	NM_000059	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	hg19	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190851	0.78789	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.02323	4.34;4.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	M	0.76328	2.33	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.00116	-1.2036	10	0.87932	D	0	.	15.7412	0.77899	0.0:0.0:0.0:1.0	.	3298	P51587	BRCA2_HUMAN	C	3298	ENSP00000369497:F3298C;ENSP00000439902:F3298C	ENSP00000369497:F3298C	F	+	2	0	BRCA2	31870543	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.505000	0.66981	2.114000	0.64651	0.383000	0.25322	TTT	.	.		0.403	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818	
ZC3H13	23091	hgsc.bcm.edu	37	13	46619587	46619587	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr13:46619587C>T	ENST00000242848.4	-	2	404	c.56G>A	c.(55-57)aGc>aAc	p.S19N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S19N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	19							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCGGGATGTGCTATCAGATAT	0.413																																					p.S19N	Esophageal Squamous(187;747 2077 11056 31291 44172)	Atlas-SNP	.											.	ZC3H13	197	.	0			c.G56A						.						225.0	231.0	229.0					13																	46619587		2203	4300	6503	SO:0001583	missense	23091	exon2			GATGTGCTATCAG	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.56G>A	chr13.hg19:g.46619587C>T	ENSP00000242848:p.Ser19Asn	249.0	0.0		158.0	45.0	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	hg19		.	.	.	.	.	.	.	.	.	.	C	13.95	2.391079	0.42410	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.35421	2.27;1.31	5.5	4.65	0.58169	.	0.000000	0.64402	D	0.000002	T	0.22781	0.0550	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.17098	0.007;0.017	T	0.04930	-1.0917	10	0.87932	D	0	.	14.6561	0.68833	0.0:0.9295:0.0:0.0705	.	19;19	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	N	19	ENSP00000242848:S19N;ENSP00000282007:S19N	ENSP00000242848:S19N	S	-	2	0	ZC3H13	45517588	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	5.759000	0.68785	1.315000	0.45114	0.585000	0.79938	AGC	.	.		0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
NPAS3	64067	hgsc.bcm.edu	37	14	33684454	33684454	+	Missense_Mutation	SNP	T	T	G			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr14:33684454T>G	ENST00000356141.4	+	3	207	c.207T>G	c.(205-207)ttT>ttG	p.F69L	NPAS3_ENST00000357798.5_Missense_Mutation_p.F39L|NPAS3_ENST00000551492.1_Missense_Mutation_p.F76L|NPAS3_ENST00000346562.2_Missense_Mutation_p.F39L|NPAS3_ENST00000548645.1_Missense_Mutation_p.F39L|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.F69L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	69	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGAAAACTTTGAGTTCTATG	0.448																																					p.F69L		Atlas-SNP	.											.	NPAS3	266	.	0			c.T207G						.						83.0	87.0	86.0					14																	33684454		2203	4300	6503	SO:0001583	missense	64067	exon3			AAACTTTGAGTTC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.207T>G	chr14.hg19:g.33684454T>G	ENSP00000348460:p.Phe69Leu	160.0	0.0		105.0	7.0	NM_001164749	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463063	0.26248	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.97752	3.56;3.43;3.44;-4.52;3.43;3.42;3.29	5.96	4.82	0.62117	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000001	D	0.94470	0.8220	N	0.22421	0.69	0.58432	D	0.999994	B;B;B;B	0.24483	0.104;0.063;0.104;0.104	B;B;B;B	0.35931	0.074;0.034;0.214;0.153	D	0.90209	0.4263	10	0.11485	T	0.65	.	12.2222	0.54441	0.0:0.0663:0.0:0.9336	.	39;69;39;39	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	L	46;76;39;69;39;69;39	ENSP00000448373:F46L;ENSP00000450392:F76L;ENSP00000319610:F39L;ENSP00000344158:F69L;ENSP00000448916:F39L;ENSP00000348460:F69L;ENSP00000350446:F39L	ENSP00000344158:F69L	F	+	3	2	NPAS3	32754205	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.375000	0.44283	1.077000	0.40990	-0.264000	0.10439	TTT	.	.		0.448	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
RYR3	6263	hgsc.bcm.edu	37	15	33765652	33765652	+	Silent	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr15:33765652C>T	ENST00000389232.4	+	2	154	c.84C>T	c.(82-84)acC>acT	p.T28T	RYR3_ENST00000415757.3_Silent_p.T28T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	28					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATCGCCACCATTCATAAGG	0.562																																					p.T28T		Atlas-SNP	.											.	RYR3	760	.	0			c.C84T						.						108.0	111.0	110.0					15																	33765652		2093	4215	6308	SO:0001819	synonymous_variant	6263	exon2			CGCCACCATTCAT		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.84C>T	chr15.hg19:g.33765652C>T		111.0	0.0		71.0	15.0	NM_001243996	O15175|Q15412	Silent	SNP	ENST00000389232.4	hg19	CCDS45210.1																																																																																			.	.		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
CORO7	79585	hgsc.bcm.edu	37	16	4414675	4414675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr16:4414675C>A	ENST00000251166.4	-	13	1205	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.E354*|CORO7_ENST00000539968.1_Nonsense_Mutation_p.E134*|CORO7_ENST00000537233.2_Nonsense_Mutation_p.E336*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.E269*|CORO7_ENST00000423908.2_Nonsense_Mutation_p.E186*	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	354					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AACAGGTCCTCGTGGAACTCC	0.692																																					p.E354X		Atlas-SNP	.											.	CORO7	73	.	0			c.G1060T						.						15.0	15.0	15.0					16																	4414675		2184	4286	6470	SO:0001587	stop_gained	79585	exon13			GGTCCTCGTGGAA	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1060G>T	chr16.hg19:g.4414675C>A	ENSP00000251166:p.Glu354*	126.0	0.0		113.0	27.0	NM_024535	B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	ENST00000251166.4	hg19	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	42	9.357909	0.99147	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	.	.	.	5.31	4.35	0.52113	.	0.327478	0.26975	N	0.021542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-24.1669	10.0778	0.42370	0.0:0.7845:0.1398:0.0757	.	.	.	.	X	354;269;134;186	.	ENSP00000251166:E354X	E	-	1	0	CORO7	4354676	0.712000	0.27916	0.897000	0.35233	0.614000	0.37383	1.568000	0.36418	1.224000	0.43551	0.455000	0.32223	GAG	.	.		0.692	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
ADAMTS18	170692	hgsc.bcm.edu	37	16	77323286	77323286	+	Missense_Mutation	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr16:77323286C>T	ENST00000282849.5	-	22	3843	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1142	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCTGGACCCCTCCCCCACA	0.537																																					p.G1142E		Atlas-SNP	.											.	ADAMTS18	270	.	0			c.G3425A						.						72.0	77.0	75.0					16																	77323286		2198	4300	6498	SO:0001583	missense	170692	exon22			TGGACCCCTCCCC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3425G>A	chr16.hg19:g.77323286C>T	ENSP00000282849:p.Gly1142Glu	86.0	0.0		46.0	11.0	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	hg19	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861476	0.91433	.	.	ENSG00000140873	ENST00000282849	D	0.83673	-1.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96936	0.9684	10	0.87932	D	0	.	19.632	0.95713	0.0:1.0:0.0:0.0	.	1142	Q8TE60	ATS18_HUMAN	E	1142	ENSP00000282849:G1142E	ENSP00000282849:G1142E	G	-	2	0	ADAMTS18	75880787	1.000000	0.71417	0.966000	0.40874	0.732000	0.41865	7.461000	0.80834	2.890000	0.99128	0.650000	0.86243	GGG	.	.		0.537	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
EFCAB5	374786	hgsc.bcm.edu	37	17	28386624	28386624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr17:28386624G>A	ENST00000394835.3	+	14	2834	c.2642G>A	c.(2641-2643)tGg>tAg	p.W881*	EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.W881*|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.W881*|RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000320856.5_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	881	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCAGAAGTGGGACAGTGAT	0.413																																					p.W881X		Atlas-SNP	.											.	EFCAB5	122	.	0			c.G2642A						.						102.0	101.0	101.0					17																	28386624		1854	4098	5952	SO:0001587	stop_gained	374786	exon14			AGAAGTGGGACAG	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2642G>A	chr17.hg19:g.28386624G>A	ENSP00000378312:p.Trp881*	151.0	0.0		80.0	17.0	NM_198529	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	hg19	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	40	8.315218	0.98757	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9875	16.6453	0.85175	0.0:0.0:1.0:0.0	.	.	.	.	X	881	.	ENSP00000368012:W881X	W	+	2	0	EFCAB5	25410750	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.161000	0.71868	2.514000	0.84764	0.455000	0.32223	TGG	.	.		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
RNF213	57674	hgsc.bcm.edu	37	17	78321423	78321423	+	Silent	SNP	A	A	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr17:78321423A>T	ENST00000582970.1	+	29	9431	c.9288A>T	c.(9286-9288)acA>acT	p.T3096T	RNF213_ENST00000336301.6_Silent_p.T1169T|RNF213_ENST00000508628.2_Silent_p.T3145T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3096					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCATGGAAACAGGCAAGATGG	0.522																																					p.T3096T		Atlas-SNP	.											.	RNF213	766	.	0			c.A9288T						.						91.0	88.0	89.0					17																	78321423		2203	4300	6503	SO:0001819	synonymous_variant	57674	exon29			GGAAACAGGCAAG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9288A>T	chr17.hg19:g.78321423A>T		69.0	0.0		60.0	17.0	NM_001256071	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	hg19	CCDS58606.1																																																																																			.	.		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
CCDC178	374864	hgsc.bcm.edu	37	18	30795652	30795652	+	Missense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr18:30795652C>A	ENST00000383096.3	-	19	2122	c.1940G>T	c.(1939-1941)cGc>cTc	p.R647L	CCDC178_ENST00000579947.1_Missense_Mutation_p.R647L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.R647L|CCDC178_ENST00000300227.8_Missense_Mutation_p.R609L|CCDC178_ENST00000583930.1_Missense_Mutation_p.R647L|CCDC178_ENST00000402325.1_Missense_Mutation_p.R647L|CCDC178_ENST00000403303.1_Missense_Mutation_p.R647L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	647																	AATTGCTGAGCGTTTACTCTG	0.279																																					p.R647L		Atlas-SNP	.											.	.	.	.	0			c.G1940T						.						36.0	40.0	39.0					18																	30795652		2177	4285	6462	SO:0001583	missense	374864	exon18			GCTGAGCGTTTAC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1940G>T	chr18.hg19:g.30795652C>A	ENSP00000372576:p.Arg647Leu	270.0	0.0		132.0	32.0	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	hg19	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	5.477	0.272981	0.10349	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15603	2.43;2.43;2.41;2.42;2.42	4.27	-0.0237	0.13942	.	.	.	.	.	T	0.10423	0.0255	L	0.48642	1.525	0.09310	N	1	B;B;P;P;P	0.39376	0.034;0.034;0.67;0.67;0.67	B;B;B;B;B	0.32762	0.066;0.024;0.152;0.093;0.093	T	0.23940	-1.0174	9	0.23302	T	0.38	15.0468	3.131	0.06423	0.1853:0.4525:0.0:0.3622	.	647;647;647;609;647	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	L	647;647;609;647;647	ENSP00000385591:R647L;ENSP00000372576:R647L;ENSP00000300227:R609L;ENSP00000385867:R647L;ENSP00000385234:R647L	ENSP00000300227:R609L	R	-	2	0	C18orf34	29049650	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.708000	0.05035	-0.020000	0.14032	-0.210000	0.12710	CGC	.	.		0.279	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
EPG5	57724	hgsc.bcm.edu	37	18	43523169	43523169	+	Missense_Mutation	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr18:43523169G>A	ENST00000282041.5	-	9	1935	c.1901C>T	c.(1900-1902)gCa>gTa	p.A634V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	634					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTATAGCGTGCTCTATTAAA	0.423																																					p.A634V		Atlas-SNP	.											.	EPG5	199	.	0			c.C1901T						.						147.0	144.0	145.0					18																	43523169		1885	4104	5989	SO:0001583	missense	57724	exon9			TAGCGTGCTCTAT	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1901C>T	chr18.hg19:g.43523169G>A	ENSP00000282041:p.Ala634Val	186.0	0.0		106.0	24.0	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	hg19	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559236	0.65538	.	.	ENSG00000152223	ENST00000282041	T	0.10573	2.86	5.53	5.53	0.82687	.	0.732208	0.13797	N	0.362061	T	0.09555	0.0235	L	0.29908	0.895	0.48571	D	0.999675	P;P	0.36683	0.565;0.565	B;B	0.33690	0.168;0.168	T	0.19976	-1.0289	10	0.44086	T	0.13	-9.3772	12.7567	0.57339	0.0749:0.0:0.9251:0.0	.	634;634	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	V	634	ENSP00000282041:A634V	ENSP00000282041:A634V	A	-	2	0	EPG5	41777167	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.697000	0.68295	2.593000	0.87608	0.455000	0.32223	GCA	.	.		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ZNF554	115196	hgsc.bcm.edu	37	19	2834344	2834344	+	Silent	SNP	C	C	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr19:2834344C>T	ENST00000317243.5	+	5	1309	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCGCCATCTGAGAACTCA	0.552																																					p.L371L		Atlas-SNP	.											.	ZNF554	47	.	0			c.C1111T						.						44.0	49.0	48.0					19																	2834344		2167	4286	6453	SO:0001819	synonymous_variant	115196	exon5			CGCCATCTGAGAA	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1111C>T	chr19.hg19:g.2834344C>T		29.0	0.0		31.0	9.0	NM_001102651	Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	hg19	CCDS42462.1																																																																																			.	.		0.552	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
UNC13A	23025	hgsc.bcm.edu	37	19	17756598	17756598	+	Silent	SNP	G	G	A	rs373430076		TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr19:17756598G>A	ENST00000519716.2	-	19	2240	c.2241C>T	c.(2239-2241)gaC>gaT	p.D747D	UNC13A_ENST00000552293.1_Silent_p.D747D|UNC13A_ENST00000550896.1_Silent_p.D745D|UNC13A_ENST00000252773.7_Silent_p.D747D|UNC13A_ENST00000428389.2_Silent_p.D835D|UNC13A_ENST00000551649.1_Silent_p.D747D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	747	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.D747D(1)|p.D835D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATTTGATGTCGTCATCCTCGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22421	0.0		0.0	False		,,,				2504	0.0				p.D747D		Atlas-SNP	.											UNC13A_ENST00000519716,NS,carcinoma,0,2	UNC13A	299	.	2	Substitution - coding silent(2)	kidney(2)	c.C2241T						.	G		0,4254		0,0,2127	72.0	73.0	72.0		2241	-1.1	1.0	19		72	1,8507		0,1,4253	no	coding-synonymous	UNC13A	NM_001080421.2		0,1,6380	AA,AG,GG		0.0118,0.0,0.0078		747/1704	17756598	1,12761	2127	4254	6381	SO:0001819	synonymous_variant	23025	exon18			GATGTCGTCATCC	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2241C>T	chr19.hg19:g.17756598G>A		179.0	0.0		93.0	19.0	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	hg19	CCDS46013.2																																																																																			.	.		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
KRTAP27-1	643812	hgsc.bcm.edu	37	21	31709697	31709697	+	Missense_Mutation	SNP	C	C	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr21:31709697C>A	ENST00000382835.2	-	1	315	c.290G>T	c.(289-291)aGg>aTg	p.R97M		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	97						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCACGCTGTCCTTTCGCAGGG	0.493																																					p.R97M		Atlas-SNP	.											.	KRTAP27-1	53	.	0			c.G290T						.						135.0	134.0	135.0					21																	31709697		2203	4300	6503	SO:0001583	missense	643812	exon1			GCTGTCCTTTCGC	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.290G>T	chr21.hg19:g.31709697C>A	ENSP00000372286:p.Arg97Met	291.0	0.0		188.0	46.0	NM_001077711		Missense_Mutation	SNP	ENST00000382835.2	hg19	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500420	0.44455	.	.	ENSG00000206107	ENST00000382835	T	0.03330	3.97	4.44	-0.893	0.10567	.	1.281970	0.05992	N	0.646271	T	0.10637	0.0260	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.36187	-0.9758	10	0.54805	T	0.06	-1.1352	7.6524	0.28356	0.0:0.4089:0.0:0.5911	.	97	Q3LI81	KR271_HUMAN	M	97	ENSP00000372286:R97M	ENSP00000372286:R97M	R	-	2	0	KRTAP27-1	30631568	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-1.515000	0.02252	-0.162000	0.10964	0.591000	0.81541	AGG	.	.		0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711	
MICAL3	57553	hgsc.bcm.edu	37	22	18370147	18370147	+	Missense_Mutation	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr22:18370147G>A	ENST00000441493.2	-	14	2298	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	MICAL3_ENST00000429452.1_Missense_Mutation_p.S649F|MICAL3_ENST00000585038.1_Missense_Mutation_p.S649F|MICAL3_ENST00000400561.2_Missense_Mutation_p.S649F|MICAL3_ENST00000414725.2_Missense_Mutation_p.S649F|MICAL3_ENST00000383094.3_Missense_Mutation_p.S649F|MICAL3_ENST00000444520.1_Missense_Mutation_p.S649F|MICAL3_ENST00000207726.7_Missense_Mutation_p.S649F	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	649					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGATAGGGGATCTGGTGCT	0.527																																					p.S649F		Atlas-SNP	.											.	MICAL3	53	.	0			c.C1946T						.						175.0	155.0	161.0					22																	18370147		1568	3582	5150	SO:0001583	missense	57553	exon14			ATAGGGGATCTGG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1946C>T	chr22.hg19:g.18370147G>A	ENSP00000416015:p.Ser649Phe	310.0	0.0		205.0	12.0	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220411	0.79464	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.69561	-0.16;-0.41;-0.23;-0.23;-0.22;-0.22;-0.22	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	L	0.58669	1.825	0.80722	D	1	D;B;B;B;D	0.71674	0.998;0.14;0.172;0.079;0.998	D;B;B;B;D	0.78314	0.991;0.077;0.099;0.067;0.938	T	0.80817	-0.1213	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	649;649;649;649;649	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	F	649	ENSP00000416015:S649F;ENSP00000414846:S649F;ENSP00000383406:S649F;ENSP00000410315:S649F;ENSP00000391827:S649F;ENSP00000372574:S649F;ENSP00000207726:S649F	ENSP00000207726:S649F	S	-	2	0	XXbac-B461K10.4;MICAL3	16750147	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.837000	0.99465	2.850000	0.98022	0.650000	0.86243	TCC	.	.		0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
USP9Y	8287	hgsc.bcm.edu	37	Y	14885659	14885659	+	Missense_Mutation	SNP	G	G	A			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chrY:14885659G>A	ENST00000338981.3	+	17	3076	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	711					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGATGAACCAGACTTGGATCC	0.358																																					p.D711N		Atlas-SNP	.											.	USP9Y	49	.	0			c.G2131A						.						86.0	80.0	81.0					Y																	14885659		616	1963	2579	SO:0001583	missense	8287	exon17			GAACCAGACTTGG	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2131G>A	chrY.hg19:g.14885659G>A	ENSP00000342812:p.Asp711Asn	190.0	0.0		110.0	9.0	NM_004654	O14601	Missense_Mutation	SNP	ENST00000338981.3	hg19	CCDS14781.1																																																																																			.	.		0.358	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654	
TOB2	10766	hgsc.bcm.edu	37	22	41832827	41832827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr22:41832827delT	ENST00000327492.3	-	2	1229	c.523delA	c.(523-525)accfs	p.T175fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	175					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGTGAAGGTGATGGGCTGA	0.632																																					p.T175fs		Atlas-Indel,Pindel	.											.	TOB2	30	.	0			c.524delC						.						61.0	60.0	61.0					22																	41832827		2203	4300	6503	SO:0001589	frameshift_variant	10766	exon2			.	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.523delA	chr22.hg19:g.41832827delT	ENSP00000331305:p.Thr175fs	121.0	0.0		80.0	27.0	NM_016272	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Frame_Shift_Del	DEL	ENST00000327492.3	hg19	CCDS14015.1																																																																																			.	.		0.632	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272	
OGDH	4967	hgsc.bcm.edu	37	7	44741215	44741216	+	Splice_Site	INS	-	-	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr7:44741215_44741216insT	ENST00000222673.5	+	20	2674		c.e20+1		OGDH_ENST00000444676.1_Splice_Site|OGDH_ENST00000449767.1_Splice_Site|OGDH_ENST00000439616.2_Splice_Site|OGDH_ENST00000543843.1_Splice_Site|OGDH_ENST00000447398.1_Splice_Site	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATGCTTCCAGGTGGGTGTGAGG	0.495																																					.		Atlas-Indel,Pindel	.											.	OGDH	145	.	0			c.2632+1->T						.																																			SO:0001630	splice_region_variant	4967	exon20			.	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2632+1->T	chr7.hg19:g.44741216_44741216dupT		110.0	0.0		76.0	20.0	NM_002541	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Splice_Site	INS	ENST00000222673.5	hg19	CCDS34627.1																																																																																			.	.		0.495	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		Intron
HNRNPLL	92906	hgsc.bcm.edu	37	2	38812823	38812825	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:38812823_38812825delAGA	ENST00000449105.3	-	3	846_848	c.507_509delTCT	c.(505-510)cttctg>ctg	p.169_170LL>L	HNRNPLL_ENST00000378915.3_In_Frame_Del_p.169_170LL>L|HNRNPLL_ENST00000608859.1_In_Frame_Del_p.169_170LL>L|HNRNPLL_ENST00000409636.1_In_Frame_Del_p.164_165LL>L|HNRNPLL_ENST00000409328.1_In_Frame_Del_p.169_170LL>L|HNRNPLL_ENST00000358367.4_In_Frame_Del_p.169_170LL>L|HNRNPLL_ENST00000410076.1_In_Frame_Del_p.164_165LL>L			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	169	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										AATTGAGAGCAGAAGAACTTTGT	0.384																																					p.170_170del		Atlas-Indel,Pindel	.											.	HNRPLL	19	.	0			c.508_510del						.																																			SO:0001651	inframe_deletion	92906	exon3			.	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.507_509delTCT	chr2.hg19:g.38812826_38812828delAGA	ENSP00000390625:p.Leu171del	182.0	0.0		116.0	32.0	NM_138394	Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	In_Frame_Del	DEL	ENST00000449105.3	hg19																																																																																				.	.		0.384	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394	
EPHA4	2043	hgsc.bcm.edu	37	2	222290820	222290821	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BD-A3ER-01A-11D-A20W-10	TCGA-BD-A3ER-11A-11D-A20W-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f571d60-db6d-4282-9998-16c1ae74dcce	9124e6e8-f6c3-47a4-af2a-beda990f56f0	g.chr2:222290820_222290821insT	ENST00000281821.2	-	17	2929_2930	c.2888_2889insA	c.(2887-2889)aatfs	p.N963fs	EPHA4_ENST00000469354.1_5'Flank|EPHA4_ENST00000409938.1_Frame_Shift_Ins_p.N963fs|EPHA4_ENST00000392071.4_Frame_Shift_Ins_p.N912fs|EPHA4_ENST00000409854.1_3'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	963	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAAAATCTTATTCTGGTGCGT	0.47																																					p.N963fs		Atlas-Indel,Pindel	.											.	EPHA4	263	.	0			c.2889_2890insA						.																																			SO:0001589	frameshift_variant	2043	exon17			.	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2889dupA	chr2.hg19:g.222290822_222290822dupT	ENSP00000281821:p.Asn963fs	193.0	0.0		155.0	37.0	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Frame_Shift_Ins	INS	ENST00000281821.2	hg19	CCDS2447.1																																																																																			.	.		0.470	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
