#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PI4KB	5298	broad.mit.edu	37	1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368873.1	-	5	1385	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368875.2_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(1252-1254)tGt>tTt		phosphatidylinositol 4-kinase, catalytic, beta							57.0	55.0	56.0					1																	151278805		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278805C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1217G>T	1.37:g.151278805C>A	ENSP00000357867:p.Cys406Phe					PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F	p.C418F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1833	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		406					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1253G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.253572	0.95336	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000430800;ENST00000489223	T;T;T;T;T;T;T;T	0.68331	-0.31;-0.32;-0.32;-0.31;-0.24;-0.31;2.0;2.0	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73583	0.3605	M	0.64404	1.975	0.80722	D	1	P;D;D	0.61080	0.695;0.989;0.979	P;P;P	0.59424	0.482;0.857;0.7	T	0.72434	-0.4295	10	0.48119	T	0.1	-6.4773	18.8019	0.92022	0.0:1.0:0.0:0.0	.	406;391;74	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	F	391;418;418;406;74;391;74;74	ENSP00000357868:C391F;ENSP00000357869:C418F;ENSP00000271657:C418F;ENSP00000357867:C406F;ENSP00000433149:C74F;ENSP00000357866:C391F;ENSP00000413599:C74F;ENSP00000431501:C74F	ENSP00000271657:C418F	C	-	2	0	PI4KB	149545429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.779000	0.95612	0.650000	0.86243	TGT		0.493	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		4	93	4	93	---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(49-51)gGc>gAc		SRY (sex determining region Y)-box 13							32.0	37.0	36.0					1																	204082093		2028	4187	6215	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082093G>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.50G>A	1.37:g.204082093G>A	ENSP00000356172:p.Gly17Asp					SOX13_ENST00000367203.4_3'UTR	p.G17D	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	159	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		17					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.50G>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799425	0.70567	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97870	-4.58	5.36	5.36	0.76844	.	.	.	.	.	D	0.95636	0.8581	L	0.44542	1.39	0.29308	N	0.868233	P	0.41748	0.761	B	0.40702	0.338	D	0.91426	0.5162	9	0.14252	T	0.57	.	16.8364	0.85957	0.0:0.0:1.0:0.0	.	17	Q9UN79	SOX13_HUMAN	D	17	ENSP00000356172:G17D	ENSP00000356172:G17D	G	+	2	0	SOX13	202348716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.570000	0.60872	2.504000	0.84457	0.585000	0.79938	GGC		0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		4	88	4	88	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2800-2802)Gac>Aac		adenylate cyclase 3							154.0	118.0	131.0					2																	25046161		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25046161C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2800G>A	2.37:g.25046161C>T	ENSP00000260600:p.Asp934Asn					ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	p.D934N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			17	3651	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		934					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2800G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665569	0.96745	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.29142	1.58;1.58	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.46819	1.47	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.803	D;D;B	0.85130	0.997;0.997;0.424	T	0.48714	-0.9011	10	0.87932	D	0	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	935;934;521	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	934;521;909	ENSP00000260600:D934N;ENSP00000384484:D521N	ENSP00000260600:D934N	D	-	1	0	ADCY3	24899665	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.604000	0.82830	2.894000	0.99253	0.655000	0.94253	GAC		0.473	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			4	103	4	103	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(364-366)aAt>aGt		eukaryotic translation initiation factor 2-alpha kinase 3							121.0	108.0	112.0					2																	88913315		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88913315T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.365A>G	2.37:g.88913315T>C	ENSP00000307235:p.Asn122Ser					EIF2AK3_ENST00000419748.1_5'UTR	p.N122S	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			2	666	-			122					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.365A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564345	0.86335	.	.	ENSG00000172071	ENST00000303236	T	0.28666	1.6	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64170	1.965	0.46317	D	0.998983	D	0.69078	0.997	D	0.75020	0.985	T	0.54721	-0.8251	10	0.59425	D	0.04	-21.6665	15.3963	0.74798	0.0:0.0:0.0:1.0	.	122	Q9NZJ5	E2AK3_HUMAN	S	122	ENSP00000307235:N122S	ENSP00000307235:N122S	N	-	2	0	EIF2AK3	88694430	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.597000	0.82733	2.028000	0.59812	0.533000	0.62120	AAT		0.358	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		94	128	94	128	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682																																						ENST00000264972.5																			1	Substitution - Missense(1)	p.P421Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1261-1263)cCg>cTg		zeta-chain (TCR) associated protein kinase 70kDa							73.0	77.0	75.0					2																	98351892		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351892C>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1262C>T	2.37:g.98351892C>T	ENSP00000264972:p.Pro421Leu					ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR	p.P421L	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			10	1477	+			421			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1262C>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753255	0.69648	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62364	0.03;0.03;0.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	T	0.68815	0.3042	N	0.26042	0.785	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.65773	0.938;0.868	T	0.71616	-0.4539	10	0.87932	D	0	.	17.5952	0.88010	0.0:1.0:0.0:0.0	.	295;421	P43403-3;P43403	.;ZAP70_HUMAN	L	421;295;114	ENSP00000264972:P421L;ENSP00000411141:P295L;ENSP00000400475:P114L	ENSP00000264972:P421L	P	+	2	0	ZAP70	97718324	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	5.966000	0.70395	2.844000	0.97970	0.643000	0.83706	CCG		0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			5	206	5	206	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000591111.1	-	66	19228	c.19004T>C	c.(19003-19005)gTt>gCt	p.V6335A	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6652A|TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13111	Ig-like 44.				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)			GTCGCTACCAACATCATTGGT	0.408																																						ENST00000589042.1																			0				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						c.(19954-19956)gTt>gCt		titin							197.0	200.0	199.0					2																	179592350		2077	4220	6297	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592350A>G	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.19004T>C	2.37:g.179592350A>G	ENSP00000465570:p.Val6335Ala					TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A	p.V6652A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	20179	-			6335			Ig-like 48.		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	37	c.19955T>C		.	.	.	.	.	.	.	.	.	.	A	12.02	1.811681	0.32053	.	.	ENSG00000155657	ENST00000342992	T	0.66460	-0.21	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44912	0.1316	N	0.02420	-0.555	0.80722	D	1	B	0.25272	0.122	B	0.20577	0.03	T	0.50021	-0.8876	9	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	6335	Q8WZ42	TITIN_HUMAN	A	5408	ENSP00000343764:V5408A	ENSP00000343764:V5408A	V	-	2	0	TTN	179300595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.079000	0.76829	2.291000	0.77112	0.533000	0.62120	GTT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		180	296	180	296	---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.8	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	176					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433																																						ENST00000310078.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(526-528)Ggc>Agc		ArfGAP with FG repeats 1							124.0	115.0	118.0					2																	228388627		2203	4300	6503	SO:0001583	missense	3267				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr2:228388627G>A		CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.526G>A	2.37:g.228388627G>A	ENSP00000312059:p.Gly176Ser					AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR	p.G176S	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN			4	786	+								B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.526G>A	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	8.788	0.929814	0.18131	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.21191	2.1;2.03;2.07;2.08;2.02	5.83	5.83	0.93111	.	0.106287	0.64402	D	0.000005	T	0.13798	0.0334	N	0.17474	0.49	0.49687	D	0.999817	B;B;B;B	0.31077	0.307;0.007;0.007;0.002	B;B;B;B	0.30179	0.112;0.006;0.004;0.002	T	0.04320	-1.0960	10	0.02654	T	1	-3.2954	20.1133	0.97917	0.0:0.0:1.0:0.0	.	176;176;176;176	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	S	176;161;176;176;176;176;98	ENSP00000387282:G176S;ENSP00000312059:G176S;ENSP00000387154:G176S;ENSP00000362775:G176S;ENSP00000387218:G176S	ENSP00000312059:G176S	G	+	1	0	AGFG1	228096871	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.604000	0.74150	2.762000	0.94881	0.591000	0.81541	GGC		0.433	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		23	173	23	173	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(754-756)tAc>tGc		protein tyrosine phosphatase, receptor type, G							129.0	123.0	125.0					3																	62142813		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62142813A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.755A>G	3.37:g.62142813A>G	ENSP00000418112:p.Tyr252Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	7	1132	+			252			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.755A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674267	0.88445	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.80304	-1.36;-1.36	5.8	5.8	0.92144	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.964;0.999	D	0.95403	0.8491	10	0.87932	D	0	.	16.146	0.81569	1.0:0.0:0.0:0.0	.	252;252	P23470-2;P23470	.;PTPRG_HUMAN	C	252	ENSP00000418112:Y252C;ENSP00000295874:Y252C	ENSP00000295874:Y252C	Y	+	2	0	PTPRG	62117853	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.896000	0.92521	2.216000	0.71823	0.460000	0.39030	TAC		0.512	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		7	162	7	162	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	116	4	116	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183667864	183667864	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGAACACCAGGATAACGTTCT	0.507																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2992-2994)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							66.0	69.0	68.0					3																	183667864		2038	4204	6242	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667864G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2994C>T	3.37:g.183667864G>A						ABCC5_ENST00000265586.6_Silent_p.I998I	p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3234	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		998			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2994C>T	CCDS43176.1																																																																																				0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		22	51	22	51	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75490817	75490817	+	Silent	SNP	A	A	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468																																						ENST00000502798.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(652-654)aaA>aaG		synaptic vesicle glycoprotein 2C							360.0	356.0	357.0					5																	75490817		1992	4147	6139	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490817A>G	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.654A>G	5.37:g.75490817A>G						SV2C_ENST00000322285.7_Silent_p.K218K	p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	1096	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	218					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.654A>G	CCDS43331.1																																																																																				0.468	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			149	249	149	249	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCATCGTGCTGGACAT	0.557																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(694-696)Gtg>Atg									131.0	134.0	133.0					5																	140869501		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869501G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.694G>A	5.37:g.140869501G>A	ENSP00000252087:p.Val232Met					PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron	p.V232M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	694	+			232			Cadherin 2.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.694G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528593	0.27299	.	.	ENSG00000240764	ENST00000252087	T	0.68181	-0.31	5.99	5.99	0.97316	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000120	D	0.90827	0.7119	H	0.99590	4.645	0.43703	D	0.996169	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94142	0.7398	10	0.87932	D	0	.	20.0678	0.97707	0.0:0.0:1.0:0.0	.	232;232	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	232	ENSP00000252087:V232M	ENSP00000252087:V232M	V	+	1	0	PCDHGC5	140849685	1.000000	0.71417	0.969000	0.41365	0.009000	0.06853	3.561000	0.53770	2.843000	0.97960	0.591000	0.81541	GTG		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		102	154	102	154	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3607-3609)aCt>aTt		mucin 17, cell surface associated							304.0	272.0	283.0					7																	100678305		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678305C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3608C>T	7.37:g.100678305C>T	ENSP00000302716:p.Thr1203Ile						p.T1203I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3672	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1203			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3608C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.704	-0.789748	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.838	0.838	0.18902	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	B	0.41236	0.351	T	0.50457	-0.8826	9	0.33940	T	0.23	.	4.8315	0.13443	0.0:0.6008:0.3992:0.0	.	1203	Q685J3	MUC17_HUMAN	I	1203	ENSP00000302716:T1203I	ENSP00000302716:T1203I	T	+	2	0	MUC17	100465025	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.704000	0.25661	0.790000	0.33803	0.134000	0.15878	ACT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	626	19	626	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120608106	120608106	+	Intron	SNP	G	G	A	rs142695308	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000259486.6_Missense_Mutation_p.A370V|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													G|||	10	0.00199681	0.0	0.0144	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0				Melanoma(20;305 879 2501 4818 31020)	ENST00000259486.6																			1	Substitution - Missense(1)	p.A370V(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1108-1110)gCg>gTg		ectonucleotide pyrophosphatase/phosphodiesterase 2		G	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	150.0	150.0	150.0		,,1109	5.2	1.0	8	dbSNP_134	150	0,8600		0,0,4300	yes	intron,intron,missense	ENPP2	NM_001040092.1,NM_001130863.1,NM_006209.3	,,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,370/916	120608106	1,13005	2203	4300	6503	SO:0001627	intron_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120608106G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2006C>T	8.37:g.120608106G>A						ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	p.A370V	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1158	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		324					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1109C>T	CCDS34936.1	5	0.0022893772893772895	0	0.0	5	0.013812154696132596	0	0.0	0	0.0	G	15.06	2.719777	0.48728	2.27E-4	0.0	ENSG00000136960	ENST00000259486	T	0.71461	-0.57	6.07	5.15	0.70609	.	0.187300	0.26304	N	0.025141	T	0.47893	0.1470	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46762	-0.9168	9	0.17832	T	0.49	.	12.505	0.55975	0.0829:0.0:0.9171:0.0	.	370	Q13822-2	.	V	370	ENSP00000259486:A370V	ENSP00000259486:A370V	A	-	2	0	ENPP2	120677287	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.626000	0.46460	1.443000	0.47586	0.655000	0.94253	GCG		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			19	540	19	540	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000377838.3	-	6	1657	c.1483A>G	c.(1483-1485)Aac>Gac	p.N495D	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000520727.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1447-1449)Aac>Gac		zinc finger and AT hook domain containing							29.0	31.0	30.0					8																	135614479		1995	4163	6158	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614479T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1483A>G	8.37:g.135614479T>C	ENSP00000367069:p.Asn495Asp					ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1746	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		495					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1447A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825458	0.71143	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	6.04	4.9	0.64082	.	0.051299	0.85682	D	0.000000	T	0.05914	0.0154	L	0.32530	0.975	0.41139	D	0.985944	P;P;B;B	0.40360	0.714;0.533;0.202;0.076	B;B;B;B	0.30251	0.113;0.094;0.097;0.021	T	0.39231	-0.9624	10	0.39692	T	0.17	-48.3966	10.9172	0.47144	0.0:0.0723:0.0:0.9277	.	433;483;483;495	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	D	483;483;483;495;483;433;483	ENSP00000427879:N483D;ENSP00000427831:N483D;ENSP00000394501:N483D;ENSP00000367069:N495D;ENSP00000428483:N483D;ENSP00000429091:N433D	ENSP00000367069:N495D	N	-	1	0	ZFAT	135683661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.157000	0.64911	2.317000	0.78254	0.460000	0.39030	AAC		0.607	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		4	118	4	118	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145741718	145741718	+	5'Flank	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000428558.2_Missense_Mutation_p.R262Q	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(784-786)cGg>cAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							19.0	22.0	21.0					8																	145741718		2005	4169	6174	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145741718C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145741718C>T	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.R262Q	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	826	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		262					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.785G>A	CCDS6432.1																																																																																				0.672	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		8	85	8	85	---	---	---	---
PC	5091	broad.mit.edu	37	11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393958.2	-	22	3517	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000393960.1_Missense_Mutation_p.A1142S|PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3424-3426)Gcc>Tcc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						130.0	114.0	119.0					11																	66616483		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66616483C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3424G>T	11.37:g.66616483C>A	ENSP00000377530:p.Ala1142Ser					PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S	p.A1142S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	23	3705	-		Melanoma(852;0.0525)	1142			Biotinyl-binding.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.3424G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501018	0.85176	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.66	4.66	0.58398	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.110892	0.64402	D	0.000011	T	0.75932	0.3917	M	0.79343	2.45	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.79652	-0.1714	10	0.87932	D	0	-25.9751	15.072	0.72046	0.0:1.0:0.0:0.0	.	1142	P11498	PYC_HUMAN	S	262;1142;1142;1142	ENSP00000435905:A262S;ENSP00000377527:A1142S;ENSP00000377530:A1142S;ENSP00000377532:A1142S	ENSP00000377527:A1142S	A	-	1	0	PC	66373059	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	5.563000	0.67352	2.414000	0.81942	0.462000	0.41574	GCC		0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		5	211	5	211	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92086739	92086739	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(1459-1461)gtG>gtA		FAT atypical cadherin 3							75.0	73.0	74.0					11																	92086739		1930	4145	6075	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086739G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1461G>A	11.37:g.92086739G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V	p.V487V			Q8TDW7	FAT3_HUMAN			1	1478	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	487			Cadherin 5.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.1461G>A																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	43	19	43	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A	rs538791217		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	TMEM204_ENST00000253934.5_5'Flank|IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	803					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2407-2409)Gtc>Ttc		intraflagellar transport 140 homolog (Chlamydomonas)							25.0	26.0	26.0					16																	1576790		2196	4299	6495	SO:0001583	missense	9742							g.chr16:1576790C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2407G>T	16.37:g.1576790C>A	ENSP00000406012:p.Val803Phe					IFT140_ENST00000361339.5_5'UTR	p.V803F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			20	2770	-		Hepatocellular(780;0.219)	803					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2407G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995461	0.93167	.	.	ENSG00000187535	ENST00000397417;ENST00000426508	T	0.54479	0.57	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.80091	-0.1527	10	0.56958	D	0.05	.	16.9718	0.86302	0.0:1.0:0.0:0.0	.	803;528	Q96RY7;B4DR58	IF140_HUMAN;.	F	803	ENSP00000406012:V803F	ENSP00000380562:V803F	V	-	1	0	IFT140	1516791	1.000000	0.71417	0.932000	0.37286	0.919000	0.55068	6.017000	0.70805	2.459000	0.83118	0.655000	0.94253	GTC		0.692	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		3	46	3	46	---	---	---	---
CES4A	283848	broad.mit.edu	37	16	67037031	67037031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:67037031C>T	ENST00000326686.5	+	6	749	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CES4A_ENST00000540947.2_Missense_Mutation_p.A250V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V|CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	250						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGTGGCACCGCGTTATTCAGA	0.552																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(748-750)gCg>gTg		carboxylesterase 4A							105.0	104.0	104.0					16																	67037031		1994	4172	6166	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67037031C>T	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.749C>T	16.37:g.67037031C>T	ENSP00000314145:p.Ala250Val					CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V	p.A250V	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			6	933	+			250					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.749C>T		.	.	.	.	.	.	.	.	.	.	c	13.80	2.345883	0.41599	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.23	1.06	0.20224	Carboxylesterase, type B (1);	0.602048	0.14590	N	0.310313	T	0.61110	0.2321	L	0.46614	1.455	0.24754	N	0.992965	B;P;B;B	0.37061	0.021;0.58;0.092;0.109	B;B;B;B	0.37989	0.016;0.066;0.262;0.063	T	0.49351	-0.8949	10	0.38643	T	0.18	.	8.7425	0.34567	0.0:0.6808:0.0:0.3192	.	156;273;250;273	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	V	250;273;273;250;250;213;152;156	ENSP00000444052:A250V;ENSP00000443175:A273V;ENSP00000340714:A273V;ENSP00000381397:A250V;ENSP00000314145:A250V;ENSP00000441103:A213V;ENSP00000441907:A152V;ENSP00000441644:A156V	ENSP00000314145:A250V	A	+	2	0	CES4A	65594532	0.810000	0.29049	0.000000	0.03702	0.141000	0.21300	1.755000	0.38379	-0.002000	0.14469	0.574000	0.79327	GCG		0.552	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		64	37	64	37	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6503779	6503779	+	Splice_Site	SNP	C	C	T			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		RNA5SP435_ENST00000364044.1_RNA|KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.e13-1		KIAA0753							74.0	72.0	73.0					17																	6503779		1822	4086	5908	SO:0001630	splice_region_variant	9851					centrosome		g.chr17:6503779C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2010-1G>A	17.37:g.6503779C>T						KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site		NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	13	2368	-								A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Splice_Site	SNP	ENST00000361413.3	37		CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590946	0.66219	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3443	0.74324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0753	6444503	0.942000	0.31987	0.988000	0.46212	0.969000	0.65631	2.617000	0.46385	2.777000	0.95525	0.591000	0.81541	.		0.383	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	Intron	46	90	46	90	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42340029	42340029	+	Silent	SNP	G	G	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	27			P -> H (in dbSNP:rs55777403). {ECO:0000269|PubMed:15489334}.		anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(79-81)ccC>ccT		solute carrier family 4 (anion exchanger), member 1							88.0	81.0	84.0					17																	42340029		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42340029G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.81C>T	17.37:g.42340029G>A						AC003043.1_ENST00000597382.1_Intron	p.P27P	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	3	236	-		Breast(137;0.014)|Prostate(33;0.0181)	27		P -> H (in dbSNP:rs55777403).			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.81C>T	CCDS11481.1																																																																																				0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		11	27	11	27	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T	rs376498268		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000585328.1	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000389840.5_Missense_Mutation_p.V448M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	448	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1342-1344)Gtg>Atg		dynein, axonemal, heavy chain 17		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	51.0	44.0	46.0		1342	2.9	0.0	17		46	0,8600		0,0,4300	no	missense	DNAH17	NM_173628.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/4463	76563191	1,13005	2203	4300	6503	SO:0001583	missense	8632							g.chr17:76563191C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1342G>A	17.37:g.76563191C>T	ENSP00000465516:p.Val448Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M	p.V448M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1466	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1342G>A		.	.	.	.	.	.	.	.	.	.	C	2.440	-0.328734	0.05314	2.27E-4	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55588	0.51	4.92	2.94	0.34122	.	0.483083	0.15483	N	0.259983	T	0.40498	0.1119	L	0.40543	1.245	0.09310	N	1	P	0.37101	0.582	B	0.34590	0.186	T	0.13202	-1.0518	10	0.33141	T	0.24	.	9.7175	0.40283	0.0:0.8352:0.0:0.1648	.	150	Q9UFH2-4	.	M	448	ENSP00000374490:V448M	ENSP00000300671:V448M	V	-	1	0	DNAH17	74074786	0.149000	0.22717	0.007000	0.13788	0.016000	0.09150	1.075000	0.30716	0.623000	0.30267	-0.215000	0.12644	GTG		0.488	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	13	15	13	---	---	---	---
HGS	9146	broad.mit.edu	37	17	79657219	79657219	+	Silent	SNP	C	C	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(421-423)gtC>gtA		hepatocyte growth factor-regulated tyrosine kinase substrate							112.0	97.0	102.0					17																	79657219		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79657219C>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.423C>A	17.37:g.79657219C>A							p.V141V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		6	558	+	all_neural(118;0.0878)|all_lung(278;0.23)		141			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.423C>A	CCDS11784.1																																																																																				0.607	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		14	146	14	146	---	---	---	---
TPM4	7171	broad.mit.edu	37	19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G|TPM4_ENST00000538887.1_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483			T	ALK	ALCL																																	ENST00000300933.4				Dom	yes		19	19p13.1	7171	T	tropomyosin 4			L	ALK		ALCL	TPM4/ALK(12)	0				breast(1)|large_intestine(3)	4						c.(631-633)gCa>gGa		tropomyosin 4							119.0	109.0	112.0					19																	16204531		2203	4300	6503	SO:0001583	missense	7171				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	g.chr19:16204531C>G		CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.632C>G	19.37:g.16204531C>G	ENSP00000300933:p.Ala211Gly					TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G	p.A211G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN			7	892	+			211					P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	c.632C>G	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488725	0.64074	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.97430	-4.38;-4.38;-4.38	4.79	3.74	0.42951	.	0.093197	0.38897	U	0.001534	D	0.98353	0.9453	M	0.90082	3.085	0.49798	D	0.999823	D;P	0.60160	0.987;0.624	D;P	0.64410	0.925;0.516	D	0.98844	1.0756	10	0.72032	D	0.01	-4.7697	12.5674	0.56318	0.0:0.9188:0.0:0.0812	.	211;247	P67936;P67936-2	TPM4_HUMAN;.	G	247;247;211	ENSP00000345230:A247G;ENSP00000439135:A247G;ENSP00000300933:A211G	ENSP00000300933:A211G	A	+	2	0	TPM4	16065531	1.000000	0.71417	0.100000	0.21137	0.482000	0.33219	5.928000	0.70088	1.144000	0.42321	0.650000	0.86243	GCA		0.483	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290		5	196	5	196	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1999-2001)gTc>gGc		catsper channel auxiliary subunit gamma							19.0	17.0	18.0					19																	38852407		2188	4276	6464	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852407T>G	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2000T>G	19.37:g.38852407T>G	ENSP00000386962:p.Val667Gly					CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|CATSPERG_ENST00000215069.4_3'UTR	p.V667G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			17	2115	+			667					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2000T>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395478	0.62066	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.42513	0.97;0.97	4.67	3.65	0.41850	.	1.595100	0.03897	N	0.279615	T	0.48390	0.1497	L	0.55481	1.735	0.19775	N	0.999955	P;D	0.53151	0.904;0.958	P;P	0.48227	0.525;0.571	T	0.24261	-1.0165	10	0.87932	D	0	-5.7195	6.6437	0.22923	0.0:0.1112:0.0:0.8888	.	667;627	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	G	627;667;667	ENSP00000387057:V627G;ENSP00000386962:V667G	ENSP00000386962:V667G	V	+	2	0	CATSPERG	43544247	0.019000	0.18553	0.000000	0.03702	0.051000	0.14879	2.309000	0.43699	0.655000	0.30866	0.334000	0.21626	GTC		0.667	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	24	5	24	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121845	38121845	+	Silent	SNP	C	C	T	rs373257196		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3280-3282)gcC>gcT		TRIO and F-actin binding protein		C		0,3896		0,0,1948	81.0	89.0	87.0		3282	-6.1	0.0	22		87	2,8232		0,2,4115	no	coding-synonymous	TRIOBP	NM_001039141.2		0,2,6063	TT,TC,CC		0.0243,0.0,0.0165		1094/2366	38121845	2,12128	1948	4117	6065	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121845C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3282C>T	22.37:g.38121845C>T							p.A1094A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3537	+	Melanoma(58;0.0574)		1094					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3282C>T	CCDS43015.1																																																																																				0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	279	6	279	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86887270	86887270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1384-1386)aTg>aCg		kelch-like family member 4							99.0	84.0	89.0					X																	86887270		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887270T>C	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1385T>C	X.37:g.86887270T>C	ENSP00000362211:p.Met462Thr					KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1530	+			462					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1385T>C	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651443	0.67472	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.83992	-1.79;-1.79	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.979	D	0.94147	0.7402	10	0.87932	D	0	.	13.4485	0.61155	0.0:0.0:0.0:1.0	.	462;462	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	462	ENSP00000362211:M462T;ENSP00000362206:M462T	ENSP00000362206:M462T	M	+	2	0	KLHL4	86773926	1.000000	0.71417	0.913000	0.36048	0.975000	0.68041	7.531000	0.81973	1.770000	0.52166	0.412000	0.27726	ATG		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			3	43	3	43	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)tttfs		Fas cell surface death receptor							338.0	365.0	356.0					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			7	831	7	831	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)atgfs	p.M808fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.46																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2422-2424)atgfs		AHNAK nucleoprotein																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299465_62299466insA	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2424dupT	11.37:g.62299466_62299466dupA	ENSP00000367263:p.Met808fs					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M808fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2697_2698	-		Melanoma(852;0.155)	808					A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	c.2423_2424insT	CCDS31584.1																																																																																				0.460	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	429	16	429	---	---	---	---
