#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_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ASCC3	10973	hgsc.bcm.edu;ucsc.edu	37	6	101296058	101296058	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr6:101296058G>C	ENST00000369162.2	-	4	1111	c.767C>G	c.(766-768)gCt>gGt	p.A256G	ASCC3_ENST00000522650.1_Missense_Mutation_p.A256G	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	256					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTAATAGAAGCAAGCATATC	0.299																																																	0													67.0	69.0	68.0					6																	101296058		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.767C>G	6.37:g.101296058G>C	ENSP00000358159:p.Ala256Gly	Somatic		WXS	SOLID	Phase_I	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401043	0.42613	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.58060	0.43;0.36	5.76	5.76	0.90799	.	0.114714	0.64402	D	0.000017	T	0.57198	0.2037	L	0.56769	1.78	0.80722	D	1	D;D;B	0.76494	0.999;0.991;0.02	P;P;B	0.62813	0.907;0.787;0.007	T	0.48422	-0.9037	10	0.11794	T	0.64	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	256;256;256	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	G	256	ENSP00000358159:A256G;ENSP00000430769:A256G	ENSP00000358159:A256G	A	-	2	0	ASCC3	101402779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.303000	0.78871	2.721000	0.93114	0.591000	0.81541	GCT		0.299	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828	
CCDC186	55088	hgsc.bcm.edu;ucsc.edu	37	10	115891000	115891000	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:115891000C>G	ENST00000369287.3	-	12	2273	c.2007G>C	c.(2005-2007)ttG>ttC	p.L669F	C10orf118_ENST00000543782.1_Missense_Mutation_p.L267F|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		669										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CCTGGGTACTCAATGCTTTAA	0.398																																																	0													275.0	284.0	281.0					10																	115891000		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.2007G>C	10.37:g.115891000C>G	ENSP00000358293:p.Leu669Phe	Somatic		WXS	SOLID	Phase_I	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.703724|2.703724	0.48412|0.48412	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.36340	.|1.26	5.88|5.88	2.68|2.68	0.31781|0.31781	.|.	.|0.072169	.|0.56097	.|D	.|0.000029	T|T	0.52322|0.52322	0.1727|0.1727	M|M	0.69185|0.69185	2.1|2.1	0.41927|0.41927	D|D	0.990543|0.990543	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.76575	.|0.956;0.988	T|T	0.52275|0.52275	-0.8597|-0.8597	5|10	.|0.62326	.|D	.|0.03	.|.	7.9309|7.9309	0.29901|0.29901	0.0:0.6382:0.0:0.3618|0.0:0.6382:0.0:0.3618	.|.	.|267;669	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	Q|F	298|669;267;775	.|ENSP00000358293:L669F	.|ENSP00000358293:L669F	E|L	-|-	1|3	0|2	C10orf118|C10orf118	115880990|115880990	0.993000|0.993000	0.37304|0.37304	0.906000|0.906000	0.35671|0.35671	0.525000|0.525000	0.34531|0.34531	0.461000|0.461000	0.21940|0.21940	0.842000|0.842000	0.35045|0.35045	0.585000|0.585000	0.79938|0.79938	GAG|TTG		0.398	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
CCDC186	55088	hgsc.bcm.edu;ucsc.edu	37	10	115891083	115891083	+	Silent	SNP	A	A	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:115891083A>G	ENST00000369287.3	-	12	2190	c.1924T>C	c.(1924-1926)Ttg>Ctg	p.L642L	C10orf118_ENST00000543782.1_Silent_p.L240L|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		642										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCCTCTTTCAACAACCTACTT	0.358																																																	0													169.0	178.0	175.0					10																	115891083		2203	4300	6503	SO:0001819	synonymous_variant	55088																														ENST00000369287.3:c.1924T>C	10.37:g.115891083A>G		Somatic		WXS	SOLID	Phase_I	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233680	0.05983	.	.	ENSG00000165813	ENST00000428953	.	.	.	5.98	-0.988	0.10245	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55730	-0.8095	4	.	.	.	.	12.1029	0.53794	0.3148:0.0:0.6852:0.0	.	.	.	.	A	270	.	.	V	-	2	0	C10orf118	115881073	0.996000	0.38824	0.799000	0.32177	0.297000	0.27493	0.582000	0.23834	-0.140000	0.11394	0.477000	0.44152	GTT		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
CLEC12A	160364	hgsc.bcm.edu;ucsc.edu	37	12	10131627	10131627	+	Silent	SNP	C	C	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr12:10131627C>T	ENST00000304361.4	+	2	336	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	CLEC12A_ENST00000434319.2_Silent_p.L52L|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Silent_p.L62L	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGTGCCTTCTGTTGCTCAT	0.438																																					Melanoma(197;1487 2125 16611 22221 34855)												0													227.0	210.0	216.0					12																	10131627		2203	4300	6503	SO:0001819	synonymous_variant	160364			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.154C>T	12.37:g.10131627C>T		Somatic		WXS	SOLID	Phase_I	B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Silent	SNP	ENST00000304361.4	37	CCDS8608.1																																																																																				0.438	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1		NM_138337	
EGFR	1956	hgsc.bcm.edu	37	7	55259454	55259454	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:55259454C>A	ENST00000275493.2	+	21	2689	c.2512C>A	c.(2512-2514)Ctg>Atg	p.L838M	EGFR_ENST00000454757.2_Missense_Mutation_p.L785M|EGFR_ENST00000455089.1_Missense_Mutation_p.L793M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (found in a lung cancer sample; more sensitive to gefitinib than wild- type). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L838V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCACCGCGACCTGGCAGCCAG	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	lung(1)											117.0	102.0	107.0					7																	55259454		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2512C>A	7.37:g.55259454C>A	ENSP00000275493:p.Leu838Met	Somatic		WXS	SOLID	Phase_I	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671846	0.67928	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74421	-0.84;-0.84;-0.84	5.82	2.62	0.31277	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	H	0.96015	3.755	0.44085	D	0.996844	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87429	0.2387	10	0.87932	D	0	.	7.3005	0.26418	0.0:0.5788:0.0:0.4212	.	793;838	Q504U8;P00533	.;EGFR_HUMAN	M	793;708;838;785	ENSP00000415559:L793M;ENSP00000275493:L838M;ENSP00000395243:L785M	ENSP00000275493:L838M	L	+	1	2	EGFR	55226948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.132000	0.31418	0.779000	0.33543	0.650000	0.86243	CTG		0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228	
CNTNAP2	26047	hgsc.bcm.edu;ucsc.edu	37	7	147092819	147092819	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:147092819G>T	ENST00000361727.3	+	10	2133	c.1617G>T	c.(1615-1617)agG>agT	p.R539S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	539	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGCACAAAGGAAGCCGGGAA	0.433										HNSCC(39;0.1)																																							0													170.0	154.0	159.0					7																	147092819		2203	4299	6502	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1617G>T	7.37:g.147092819G>T	ENSP00000354778:p.Arg539Ser	Somatic		WXS	SOLID	Phase_I	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543792	0.45280	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.27	0.633	0.17712	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.082655	0.48286	D	0.000192	T	0.52008	0.1708	N	0.20986	0.625	0.80722	D	1	B	0.15930	0.015	B	0.17098	0.017	T	0.24905	-1.0147	10	0.09338	T	0.73	.	7.159	0.25652	0.6795:0.0:0.3205:0.0	.	539	Q9UHC6	CNTP2_HUMAN	S	539	ENSP00000354778:R539S	ENSP00000354778:R539S	R	+	3	2	CNTNAP2	146723752	0.996000	0.38824	0.986000	0.45419	0.970000	0.65996	0.367000	0.20382	0.194000	0.20326	0.591000	0.81541	AGG		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			
EIF4G2	1982	hgsc.bcm.edu;ucsc.edu	37	11	10825559	10825559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr11:10825559C>A	ENST00000526148.1	-	8	1099	c.589G>T	c.(589-591)Gag>Tag	p.E197*	EIF4G2_ENST00000525995.1_5'Flank|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.E197*|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.E197*|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.E197*	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTGTTCCTCCTCCTCGGGG	0.393																																																	0													92.0	88.0	90.0					11																	10825559		2201	4294	6495	SO:0001587	stop_gained	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.589G>T	11.37:g.10825559C>A	ENSP00000433664:p.Glu197*	Somatic		WXS	SOLID	Phase_I		Nonsense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	43	10.085577	0.99333	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.0886	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	197;197;197;197;270;197;197;197	.	ENSP00000340281:E197X	E	-	1	0	EIF4G2	10782135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.838000	0.97847	0.591000	0.81541	GAG		0.393	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418	
EMILIN2	84034	hgsc.bcm.edu	37	18	2890860	2890860	+	Silent	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr18:2890860G>T	ENST00000254528.3	+	4	894	c.735G>T	c.(733-735)acG>acT	p.T245T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	245					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACACAGAAACGGGCCAGAGTC	0.498																																																	0													53.0	59.0	57.0					18																	2890860		2203	4300	6503	SO:0001819	synonymous_variant	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.735G>T	18.37:g.2890860G>T		Somatic		WXS	SOLID	Phase_I	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																				0.498	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048	
F5	2153	hgsc.bcm.edu	37	1	169510437	169510437	+	Silent	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:169510437T>C	ENST00000367797.3	-	13	4092	c.3891A>G	c.(3889-3891)gaA>gaG	p.E1297E	F5_ENST00000367796.3_Silent_p.E1302E	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1297	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATGGCTGAGTTCTGGAGAGA	0.517																																																	0													256.0	281.0	272.0					1																	169510437		2203	4300	6503	SO:0001819	synonymous_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3891A>G	1.37:g.169510437T>C		Somatic		WXS	SOLID	Phase_I	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130	
FAT4	79633	hgsc.bcm.edu;ucsc.edu	37	4	126373477	126373477	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr4:126373477A>C	ENST00000394329.3	+	9	11319	c.11306A>C	c.(11305-11307)aAt>aCt	p.N3769T	FAT4_ENST00000335110.5_Missense_Mutation_p.N2067T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3769					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGAAGCGAAATCATAATCAG	0.463																																																	0													91.0	89.0	90.0					4																	126373477		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11306A>C	4.37:g.126373477A>C	ENSP00000377862:p.Asn3769Thr	Somatic		WXS	SOLID	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	1.747	-0.490279	0.04322	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.45668	0.89;0.89	5.76	-2.3	0.06785	.	0.406639	0.17036	U	0.189512	T	0.15262	0.0368	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.19200	0.034;0.02;0.013	B;B;B	0.18871	0.023;0.006;0.015	T	0.27297	-1.0078	10	0.13108	T	0.6	.	13.8892	0.63729	0.2914:0.0:0.7086:0.0	.	2067;3769;3769	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	3769;2067	ENSP00000377862:N3769T;ENSP00000335169:N2067T	ENSP00000335169:N2067T	N	+	2	0	FAT4	126592927	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.043000	0.13971	-0.366000	0.08064	0.454000	0.30748	AAT		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
GBA	2629	hgsc.bcm.edu	37	1	155209553	155209553	+	Splice_Site	SNP	C	C	G			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:155209553C>G	ENST00000327247.5	-	5	540	c.308G>C	c.(307-309)gGc>gCc	p.G103A	GBA_ENST00000427500.3_Intron|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Intron|GBA_ENST00000428024.3_Splice_Site_p.G16A|GBA_ENST00000368373.3_Splice_Site_p.G103A	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	103					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	CAGTAGCAGGCCTGAGGACAT	0.547									Gaucher disease type I																																								0													76.0	68.0	71.0					1																	155209553		2203	4300	6503	SO:0001630	splice_region_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.308-1G>C	1.37:g.155209553C>G		Somatic		WXS	SOLID	Phase_I	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055723	0.07362	.	.	ENSG00000177628	ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99226	-5.59;-4.5;-4.5	3.32	1.37	0.22104	Glycoside hydrolase, subgroup, catalytic domain (1);	0.080579	0.48767	D	0.000173	D	0.90741	0.7094	N	0.17082	0.46	0.31028	N	0.71775	B	0.23058	0.079	B	0.15484	0.013	D	0.85230	0.1032	10	0.08837	T	0.75	.	5.473	0.16680	0.0:0.7225:0.0:0.2775	.	103	P04062	GLCM_HUMAN	A	16;103;103;60;103	ENSP00000397986:G16A;ENSP00000357357:G103A;ENSP00000314508:G103A	ENSP00000314508:G103A	G	-	2	0	GBA	153476177	0.981000	0.34729	0.183000	0.23137	0.614000	0.37383	2.122000	0.41987	0.231000	0.21079	0.313000	0.20887	GGC		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157	Missense_Mutation
KRT75	9119	hgsc.bcm.edu;ucsc.edu	37	12	52818423	52818423	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr12:52818423G>T	ENST00000252245.5	-	9	1754	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	512	Tail.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGCACCCAGGCTATGCCCA	0.612																																																	0													102.0	105.0	104.0					12																	52818423		2203	4300	6503	SO:0001583	missense	9119			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1534C>A	12.37:g.52818423G>T	ENSP00000252245:p.Leu512Met	Somatic		WXS	SOLID	Phase_I	B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509528	0.27036	.	.	ENSG00000170454	ENST00000252245	D	0.87412	-2.25	4.74	1.92	0.25849	.	0.000000	0.31495	N	0.007560	T	0.80529	0.4640	L	0.50333	1.59	0.28552	N	0.911582	P	0.38195	0.622	B	0.40477	0.33	T	0.68648	-0.5353	10	0.21540	T	0.41	.	4.796	0.13272	0.1945:0.177:0.6285:0.0	.	512	O95678	K2C75_HUMAN	M	512	ENSP00000252245:L512M	ENSP00000252245:L512M	L	-	1	2	KRT75	51104690	0.993000	0.37304	0.989000	0.46669	0.856000	0.48823	0.516000	0.22817	0.226000	0.20979	0.491000	0.48974	CTG		0.612	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1		NM_004693	
LAMB3	3914	hgsc.bcm.edu	37	1	209807972	209807972	+	Silent	SNP	G	G	A	rs1130667	byFrequency	TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:209807972G>A	ENST00000356082.4	-	6	518	c.384C>T	c.(382-384)ccC>ccT	p.P128P	LAMB3_ENST00000367030.3_Silent_p.P128P|LAMB3_ENST00000391911.1_Silent_p.P128P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	128	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCATGCCGGCGGGCATGGGCC	0.652													G|||	1229	0.245407	0.0908	0.2421	5008	,	,		16590	0.2381		0.3887	False		,,,				2504	0.317																0								G	,,	678,3728	275.4+/-272.5	54,570,1579	32.0	28.0	30.0		384,384,384	-8.5	0.4	1	dbSNP_86	30	3402,5198	476.1+/-369.3	669,2064,1567	no	coding-synonymous,coding-synonymous,coding-synonymous	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	,,	723,2634,3146	AA,AG,GG		39.5581,15.3881,31.3701	,,	128/1173,128/1173,128/1173	209807972	4080,8926	2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.384C>T	1.37:g.209807972G>A		Somatic		WXS	SOLID	Phase_I	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228	
LRSAM1	90678	hgsc.bcm.edu;ucsc.edu	37	9	130241215	130241215	+	Silent	SNP	C	C	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr9:130241215C>T	ENST00000323301.4	+	11	1357	c.753C>T	c.(751-753)aaC>aaT	p.N251N	LRSAM1_ENST00000373322.1_Silent_p.N251N|LRSAM1_ENST00000373324.4_Silent_p.N251N|LRSAM1_ENST00000300417.6_Silent_p.N251N	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	251					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCTCCCAGAACAGGTTCTCAG	0.453																																																	0													93.0	83.0	86.0					9																	130241215		2203	4300	6503	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.753C>T	9.37:g.130241215C>T		Somatic		WXS	SOLID	Phase_I	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																				0.453	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1		NM_138361	
MUC2	4583	hgsc.bcm.edu	37	11	1092620	1092621	+	In_Frame_Ins	INS	-	-	AAT			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr11:1092620_1092621insAAT	ENST00000441003.2	+	30	4466_4467	c.4439_4440insAAT	c.(4438-4443)ccaacc>ccAATaacc	p.1480_1481PT>PIT	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Ins_p.1481_1482PT>PIT	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4215	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cccagccctccaaccaccactc	0.634																																																	0																																										SO:0001652	inframe_insertion	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	Exception_encountered	11.37:g.1092620_1092621insAAT	ENSP00000415183:p.Pro1480_Thr1481insIle	Somatic		WXS	SOLID	Phase_I	Q14878	In_Frame_Ins	INS	ENST00000441003.2	37																																																																																					0.634	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
MYH13	8735	hgsc.bcm.edu	37	17	10219054	10219054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr17:10219054G>A	ENST00000418404.3	-	28	4103	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.Q1314*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1314					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCAGCTGCTGGGTGAGGGCC	0.512																																																	0													84.0	84.0	84.0					17																	10219054		2008	4180	6188	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3940C>T	17.37:g.10219054G>A	ENSP00000404570:p.Gln1314*	Somatic		WXS	SOLID	Phase_I	O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	43	10.402324	0.99398	.	.	ENSG00000006788	ENST00000252172	.	.	.	4.1	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.3042	0.54891	0.0988:0.0:0.9012:0.0	.	.	.	.	X	1314	.	ENSP00000252172:Q1314X	Q	-	1	0	MYH13	10159779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.481000	0.73608	2.115000	0.64714	0.453000	0.30009	CAG		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52678735	52678735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr3:52678735G>T	ENST00000296302.7	-	8	885	c.884C>A	c.(883-885)tCa>tAa	p.S295*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S295*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S295*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S295*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S295*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S295*			Q86U86	PB1_HUMAN	polybromo 1	295					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGAAGACTTGACTTAGCCAT	0.383			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													114.0	98.0	103.0					3																	52678735		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.884C>A	3.37:g.52678735G>T	ENSP00000296302:p.Ser295*	Somatic		WXS	SOLID	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	37	6.487611	0.97607	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	0.063669	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0192	17.995	0.89181	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;295;295;295;295;295;295;239	.	ENSP00000296302:S295X	S	-	2	0	PBRM1	52653775	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.815000	0.86186	2.683000	0.91414	0.563000	0.77884	TCA		0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
SLC4A4	8671	hgsc.bcm.edu;ucsc.edu	37	4	72338634	72338634	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr4:72338634T>C	ENST00000264485.5	+	14	1967	c.1850T>C	c.(1849-1851)tTc>tCc	p.F617S	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.F573S|SLC4A4_ENST00000340595.3_Missense_Mutation_p.F573S|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F617S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F617S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	617					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AACTCCAACTTCAAAGTGGGC	0.453																																																	0													136.0	138.0	137.0					4																	72338634		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1850T>C	4.37:g.72338634T>C	ENSP00000264485:p.Phe617Ser	Somatic		WXS	SOLID	Phase_I	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.579332	0.46006	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.44	5.44	0.79542	Bicarbonate transporter, C-terminal (1);	0.091907	0.85682	D	0.000000	T	0.80628	0.4659	L	0.31578	0.945	0.58432	D	0.999998	D;D;D;P;P;D	0.69078	0.996;0.997;0.99;0.58;0.607;0.984	D;D;D;B;P;D	0.71184	0.968;0.972;0.945;0.311;0.686;0.968	T	0.77905	-0.2413	10	0.23891	T	0.37	.	15.509	0.75766	0.0:0.0:0.0:1.0	.	617;617;573;573;597;617	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	S	617;617;617;573;573	ENSP00000264485:F617S;ENSP00000393557:F617S;ENSP00000307349:F617S;ENSP00000422400:F573S;ENSP00000344272:F573S	ENSP00000264485:F617S	F	+	2	0	SLC4A4	72557498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.915000	0.48805	2.065000	0.61736	0.533000	0.62120	TTC		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759	
TPH1	7166	hgsc.bcm.edu;ucsc.edu	37	11	18050851	18050851	+	Silent	SNP	G	G	A	rs150277860	byFrequency	TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr11:18050851G>A	ENST00000250018.2	-	5	1090	c.528C>T	c.(526-528)acC>acT	p.T176T	TPH1_ENST00000341556.2_Silent_p.T176T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	176					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CTTGGAATACGGTTCCCCAGG	0.403													G|||	14	0.00279553	0.0098	0.0	5008	,	,		15128	0.0		0.001	False		,,,				2504	0.0																0								G		13,4387	22.3+/-47.3	0,13,2187	250.0	256.0	254.0		528	-11.6	0.1	11	dbSNP_134	254	3,8583	3.0+/-9.4	0,3,4290	no	coding-synonymous	TPH1	NM_004179.2		0,16,6477	AA,AG,GG		0.0349,0.2955,0.1232		176/445	18050851	16,12970	2200	4293	6493	SO:0001819	synonymous_variant	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.528C>T	11.37:g.18050851G>A		Somatic		WXS	SOLID	Phase_I	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	CCDS7829.1																																																																																				0.403	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1		NM_004179	
TRPC4	7223	hgsc.bcm.edu;ucsc.edu	37	13	38266223	38266223	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr13:38266223C>A	ENST00000379705.3	-	4	2004	c.1147G>T	c.(1147-1149)Gcc>Tcc	p.A383S	TRPC4_ENST00000379679.1_Missense_Mutation_p.A210S|TRPC4_ENST00000447043.1_Missense_Mutation_p.A383S|TRPC4_ENST00000426868.2_Missense_Mutation_p.A383S|TRPC4_ENST00000379681.3_Missense_Mutation_p.A383S|TRPC4_ENST00000355779.2_Missense_Mutation_p.A383S|TRPC4_ENST00000358477.2_Missense_Mutation_p.A383S|TRPC4_ENST00000338947.5_Missense_Mutation_p.A210S|TRPC4_ENST00000379673.2_Missense_Mutation_p.A383S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	383					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCTGAGAGGCAAGCAGCAGC	0.488																																																	0													118.0	109.0	112.0					13																	38266223		2203	4300	6503	SO:0001583	missense	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1147G>T	13.37:g.38266223C>A	ENSP00000369027:p.Ala383Ser	Somatic		WXS	SOLID	Phase_I	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928338	0.92389	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D;D	0.76494	0.994;0.999;0.996;0.999;0.984;0.997	D;D;D;D;D;D	0.77557	0.947;0.976;0.99;0.989;0.918;0.947	T	0.79342	-0.1843	10	0.62326	D	0.03	-15.3861	19.942	0.97168	0.0:1.0:0.0:0.0	.	383;383;383;210;383;383	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	383;383;210;210;383;383;383;383;383	ENSP00000369027:A383S;ENSP00000369003:A383S;ENSP00000342580:A210S;ENSP00000369001:A210S;ENSP00000410133:A383S;ENSP00000348025:A383S;ENSP00000351264:A383S;ENSP00000368995:A383S;ENSP00000414316:A383S	ENSP00000342580:A210S	A	-	1	0	TRPC4	37164223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.700000	0.92200	0.563000	0.77884	GCC		0.488	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306	
VPS16	64601	hgsc.bcm.edu;ucsc.edu	37	20	2844667	2844667	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr20:2844667G>T	ENST00000380445.3	+	16	1621	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F	VPS16_ENST00000380443.3_Missense_Mutation_p.V203F|VPS16_ENST00000380469.3_Missense_Mutation_p.V373F|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	517					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CACGCCTGGTGTCTCTTACTC	0.582																																																	0													95.0	91.0	92.0					20																	2844667		2203	4300	6503	SO:0001583	missense	64601			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1549G>T	20.37:g.2844667G>T	ENSP00000369810:p.Val517Phe	Somatic		WXS	SOLID	Phase_I	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159034	0.38119	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.55588	0.51;0.51;0.51	4.96	4.96	0.65561	Vps16, C-terminal (1);	0.176186	0.49305	D	0.000152	T	0.40767	0.1130	L	0.35414	1.06	0.46631	D	0.999137	B;P;B	0.41710	0.013;0.76;0.013	B;B;B	0.39771	0.018;0.309;0.018	T	0.37979	-0.9682	10	0.56958	D	0.05	-31.9039	9.1713	0.37083	0.0965:0.0:0.9035:0.0	.	203;373;517	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	F	517;373;255;203	ENSP00000369810:V517F;ENSP00000369836:V373F;ENSP00000369808:V203F	ENSP00000369808:V203F	V	+	1	0	VPS16	2792667	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.322000	0.59215	2.571000	0.86741	0.561000	0.74099	GTC		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2		NM_022575	
WDR47	22911	hgsc.bcm.edu	37	1	109553950	109553950	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr1:109553950A>T	ENST00000369962.3	-	5	940	c.718T>A	c.(718-720)Ttg>Atg	p.L240M	WDR47_ENST00000361054.3_Missense_Mutation_p.L212M|WDR47_ENST00000400794.3_Missense_Mutation_p.L247M|WDR47_ENST00000369965.4_Missense_Mutation_p.L240M|WDR47_ENST00000357672.3_Missense_Mutation_p.L212M			O94967	WDR47_HUMAN	WD repeat domain 47	240					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTCAGATCCAAATCATCACAA	0.378																																																	0													196.0	198.0	197.0					1																	109553950		2203	4296	6499	SO:0001583	missense	22911			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.718T>A	1.37:g.109553950A>T	ENSP00000358979:p.Leu240Met	Somatic		WXS	SOLID	Phase_I	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233350	0.58886	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.57595	0.39;0.43;0.39;0.39;0.39	5.46	4.33	0.51752	.	0.000000	0.64402	D	0.000002	T	0.50480	0.1618	L	0.44542	1.39	0.51482	D	0.999925	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.55927	-0.8063	10	0.59425	D	0.04	-3.3925	8.4471	0.32849	0.8491:0.0:0.1509:0.0	.	212;247;240;240	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	M	247;240;212;240;212	ENSP00000383599:L247M;ENSP00000358979:L240M;ENSP00000354339:L212M;ENSP00000358982:L240M;ENSP00000350301:L212M	ENSP00000350301:L212M	L	-	1	2	WDR47	109355473	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	5.137000	0.64789	0.890000	0.36211	0.460000	0.39030	TTG		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2		NM_014969	
ZEB1	6935	hgsc.bcm.edu;ucsc.edu	37	10	31812969	31812969	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:31812969T>C	ENST00000320985.10	+	8	2820	c.2710T>C	c.(2710-2712)Tat>Cat	p.Y904H	ZEB1_ENST00000446923.2_Missense_Mutation_p.Y888H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Y884H|ZEB1_ENST00000542815.3_Missense_Mutation_p.Y837H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Y905H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	904					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGGAATGTATGCTTGTGA	0.363																																					Ovarian(40;423 959 14296 36701 49589)												0													122.0	121.0	121.0					10																	31812969		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2710T>C	10.37:g.31812969T>C	ENSP00000319248:p.Tyr904His	Somatic		WXS	SOLID	Phase_I	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817543	0.90790	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.72	5.72	0.89469	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.596133	0.16045	N	0.232236	D	0.87904	0.6295	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.97110	1.0;0.994;0.999;0.994;0.994	D	0.87679	0.2546	10	0.62326	D	0.03	-15.3877	15.9942	0.80228	0.0:0.0:0.0:1.0	.	837;888;884;905;904	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	H	686;904;905;899;837;904;884;795;888	ENSP00000444282:Y686H;ENSP00000354487:Y905H;ENSP00000444891:Y837H;ENSP00000319248:Y904H;ENSP00000391612:Y888H	ENSP00000319248:Y904H	Y	+	1	0	ZEB1	31852975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.193000	0.70182	0.477000	0.44152	TAT		0.363	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2		NM_030751	
ZNF33A	7581	hgsc.bcm.edu;ucsc.edu	37	10	38343549	38343549	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr10:38343549A>T	ENST00000458705.2	+	5	652	c.494A>T	c.(493-495)aAg>aTg	p.K165M	ZNF33A_ENST00000432900.2_Missense_Mutation_p.K172M|ZNF33A_ENST00000374618.3_Missense_Mutation_p.K166M|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K165M|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTAGGAAAAAAGTCTGATGAA	0.313																																																	0													60.0	61.0	61.0					10																	38343549		2203	4298	6501	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.494A>T	10.37:g.38343549A>T	ENSP00000387713:p.Lys165Met	Somatic		WXS	SOLID	Phase_I	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.245	0.413329	0.11812	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	2.26	2.26	0.28386	.	0.414645	0.17733	N	0.163811	T	0.47911	0.1471	L	0.51422	1.61	0.09310	N	1	D;B;P	0.89917	1.0;0.451;0.798	D;B;B	0.68943	0.961;0.112;0.439	T	0.19095	-1.0316	10	0.87932	D	0	.	8.0427	0.30532	1.0:0.0:0.0:0.0	.	172;165;166	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	M	166;172;165;165	ENSP00000363747:K166M;ENSP00000402467:K172M;ENSP00000387713:K165M;ENSP00000304268:K165M	ENSP00000304268:K165M	K	+	2	0	ZNF33A	38383555	0.111000	0.22076	0.640000	0.29408	0.182000	0.23217	0.459000	0.21908	1.021000	0.39600	0.377000	0.23210	AAG		0.313	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1		NM_006974	
ZNF706	51123	hgsc.bcm.edu;ucsc.edu	37	8	102213933	102213933	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr8:102213933T>C	ENST00000520347.1	-	2	2993	c.37A>G	c.(37-39)Aaa>Gaa	p.K13E	ZNF706_ENST00000518336.1_Missense_Mutation_p.K13E|ZNF706_ENST00000517844.1_Missense_Mutation_p.K13E|ZNF706_ENST00000520984.1_Missense_Mutation_p.K13E|ZNF706_ENST00000311212.4_Missense_Mutation_p.K13E|ZNF706_ENST00000521272.1_Missense_Mutation_p.K13E|ZNF706_ENST00000519744.1_Missense_Mutation_p.K13E|ZNF706_ENST00000519882.1_Missense_Mutation_p.K13E			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	13							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			TTGGCATTTTTCTGCTGAGAC	0.408																																																	0													126.0	110.0	116.0					8																	102213933		2203	4300	6503	SO:0001583	missense	51123			AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.37A>G	8.37:g.102213933T>C	ENSP00000430823:p.Lys13Glu	Somatic		WXS	SOLID	Phase_I	A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258313	0.80246	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	T	0.81850	-0.0743	8	0.87932	D	0	-7.5589	15.4421	0.75190	0.0:0.0:0.0:1.0	.	13	Q9Y5V0	ZN706_HUMAN	E	13	.	ENSP00000311768:K13E	K	-	1	0	ZNF706	102283109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.054000	0.61138	0.533000	0.62120	AAA		0.408	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096	
ZNF800	168850	hgsc.bcm.edu;ucsc.edu	37	7	127017270	127017270	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4849-01A-01D-1361-10	TCGA-B0-4849-11A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	fb7a0380-5949-46c4-8f7a-c24f91eb31ff	e72cee0e-92b2-49b4-926d-1f2b0797672b	g.chr7:127017270A>T	ENST00000393313.1	-	4	862	c.271T>A	c.(271-273)Tac>Aac	p.Y91N	ZNF800_ENST00000393312.1_Missense_Mutation_p.Y91N|ZNF800_ENST00000265827.3_Missense_Mutation_p.Y91N			Q2TB10	ZN800_HUMAN	zinc finger protein 800	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGTGGGCAGTAGAATTTTTTA	0.318																																																	0													91.0	101.0	98.0					7																	127017270		2203	4295	6498	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.271T>A	7.37:g.127017270A>T	ENSP00000376989:p.Tyr91Asn	Somatic		WXS	SOLID	Phase_I	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.836786	0.91117	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.52905	1.665	0.37958	D	0.932883	D	0.76494	0.999	D	0.87578	0.998	T	0.63260	-0.6677	9	0.72032	D	0.01	-6.005	15.301	0.73952	1.0:0.0:0.0:0.0	.	91	Q2TB10	ZN800_HUMAN	N	91	ENSP00000376989:Y91N;ENSP00000265827:Y91N;ENSP00000376988:Y91N;ENSP00000403945:Y91N;ENSP00000401109:Y91N;ENSP00000389776:Y91N	ENSP00000265827:Y91N	Y	-	1	0	ZNF800	126804506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	TAC		0.318	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
