#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GOLGA1	2800	broad.mit.edu	37	9	127651460	127651460	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr9:127651460G>A	ENST00000373555.4	-	18	2056	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	575					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAATGGGCCCCGCAGC	0.647																																						uc004bpc.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1723-1725)Cca>Tca		Homo sapiens golgin A1 (GOLGA1), mRNA.							55.0	48.0	51.0					9																	127651460		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127651460G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1723C>T	9.37:g.127651460G>A	ENSP00000362656:p.Pro575Ser		Somatic				GOLGA1_uc010mws.3_Non-coding_Transcript	p.P575S	NM_002077	NP_002068	WXS	Illumina GAIIx	Phase_I	Q92805	GOGA1_HUMAN			17	2065	-			575					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1723C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	7.582	0.668964	0.14776	.	.	ENSG00000136935	ENST00000373555	T	0.20332	2.08	4.44	3.5	0.40072	.	0.337294	0.21110	N	0.080009	T	0.13329	0.0323	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.22626	-1.0211	10	0.19590	T	0.45	3.1982	11.5159	0.50520	0.0:0.0:0.8199:0.1801	.	575	Q92805	GOGA1_HUMAN	S	575	ENSP00000362656:P575S	ENSP00000362656:P575S	P	-	1	0	GOLGA1	126691281	0.943000	0.32029	0.013000	0.15412	0.160000	0.22226	3.257000	0.51500	1.120000	0.41904	0.448000	0.29417	CCA		0.647	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		5	87	0	0	0	1	0	5	87				
NAV3	89795	broad.mit.edu	37	12	78400935	78400935	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr12:78400935A>C	ENST00000397909.2	+	8	1790	c.1617A>C	c.(1615-1617)caA>caC	p.Q539H	NAV3_ENST00000536525.2_Missense_Mutation_p.Q539H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q539H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q539H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	539						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTAAAGCAAACCATTTCAC	0.468										HNSCC(70;0.22)																												uc001syp.3																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1615-1617)caA>caC		Homo sapiens neuron navigator 3 (NAV3), mRNA.							61.0	61.0	61.0					12																	78400935		1899	4123	6022	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400935A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1617A>C	12.37:g.78400935A>C	ENSP00000381007:p.Gln539His	HNSCC(70;0.22)	Somatic				NAV3_uc001syo.3_Missense_Mutation_p.Q539H	p.Q539H	NM_014903	NP_055718	WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			7	1790	+			539					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1617A>C		.	.	.	.	.	.	.	.	.	.	A	10.46	1.356103	0.24598	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.29	-4.94	0.03057	.	0.192337	0.24705	U	0.036278	T	0.24624	0.0597	L	0.54323	1.7	0.36961	D	0.893349	B;D	0.60160	0.371;0.987	B;P	0.60682	0.2;0.878	T	0.04885	-1.0920	10	0.54805	T	0.06	-6.2321	16.8911	0.86087	0.3546:0.0:0.6454:0.0	.	539;539	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	539	ENSP00000446628:Q539H;ENSP00000446132:Q539H;ENSP00000381007:Q539H;ENSP00000228327:Q539H;ENSP00000266692:Q539H	ENSP00000228327:Q539H	Q	+	3	2	NAV3	76925066	0.056000	0.20664	0.203000	0.23512	0.157000	0.22087	-0.799000	0.04560	-0.870000	0.04047	-0.911000	0.02809	CAA		0.468	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	48	0	0	0	1	0	6	48				
CCDC66	285331	broad.mit.edu	37	3	56597934	56597934	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:56597934A>G	ENST00000394672.3	+	4	395	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	CCDC66_ENST00000326595.7_Missense_Mutation_p.K75E|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000538560.1_Missense_Mutation_p.K109E|CCDC66_ENST00000436465.2_Missense_Mutation_p.K109E	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	109					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TCATATCCAGAAAGAGATTTC	0.358																																						uc003dhz.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(325-327)Aaa>Gaa		Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.							60.0	55.0	57.0					3																	56597934		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56597934A>G	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.325A>G	3.37:g.56597934A>G	ENSP00000378167:p.Lys109Glu		Somatic				CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.K75E|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Missense_Mutation_p.K109E	p.K109E	NM_001141947	NP_001135419	WXS	Illumina GAIIx	Phase_I	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	3	412	+			109					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.325A>G	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893150	0.33442	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26;-6.26	5.75	4.61	0.57282	.	.	.	.	.	D	0.98425	0.9476	L	0.56769	1.78	0.09310	N	1	B;B	0.32753	0.176;0.383	B;B	0.26094	0.037;0.066	D	0.97682	1.0173	9	0.66056	D	0.02	-12.4368	9.3364	0.38054	0.9195:0.0:0.0805:0.0	.	109;109	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	E	109;109;75;109;109	ENSP00000401451:K109E;ENSP00000378167:K109E;ENSP00000326050:K75E;ENSP00000404320:K109E;ENSP00000444919:K109E	ENSP00000326050:K75E	K	+	1	0	CCDC66	56572974	0.604000	0.26932	0.003000	0.11579	0.037000	0.13140	3.397000	0.52572	1.010000	0.39314	0.533000	0.62120	AAA		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		4	22	0	0	0	1	0	4	22				
TBC1D8B	54885	broad.mit.edu	37	X	106108793	106108793	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:106108793G>A	ENST00000357242.5	+	15	2531	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R780H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	786							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAAAGTTGCGTGTTGTATCA	0.303																																						uc004emo.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2356-2358)cGt>cAt		Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.							90.0	82.0	85.0					X																	106108793		2201	4288	6489	SO:0001583	missense	54885					intracellular	Rab GTPase activator activity|calcium ion binding	g.chrX:106108793G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2357G>A	X.37:g.106108793G>A	ENSP00000349781:p.Arg786His		Somatic				MORC4_uc004emp.4_Intron	p.R786H	NM_017752	NP_060222	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			14	2522	+			786					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2357G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775814	0.90195	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.33654	1.4;1.4	5.49	5.49	0.81192	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70502	-0.4854	10	0.87932	D	0	-11.5945	16.8041	0.85621	0.0:0.0:1.0:0.0	.	786	Q0IIM8	TBC8B_HUMAN	H	786;780;48	ENSP00000349781:R786H;ENSP00000276175:R780H	ENSP00000276175:R780H	R	+	2	0	TBC1D8B	105995449	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.920000	0.75799	2.279000	0.76181	0.506000	0.49869	CGT		0.303	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		6	65	0	0	0	1	0	6	65				
DUSP7	1849	broad.mit.edu	37	3	52084880	52084880	+	Missense_Mutation	SNP	G	G	A	rs201355085		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:52084880G>A	ENST00000495880.1	-	3	1394	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	DUSP7_ENST00000296483.6_Missense_Mutation_p.T353M			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	404					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.T353M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGGTGGGCGTGGAAAAGTA	0.622																																						uc003dct.3																			1	Substitution - Missense(1)	p.T353M(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1210-1212)aCg>aTg		Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.							152.0	119.0	130.0					3																	52084880		2203	4300	6503	SO:0001583	missense	1849				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52084880G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1211C>T	3.37:g.52084880G>A	ENSP00000417183:p.Thr404Met		Somatic					p.T404M	NM_001947	NP_001938	WXS	Illumina GAIIx	Phase_I	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	1290	-			404					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.1211C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	g	22.9	4.356160	0.82243	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02863	4.13;4.17	5.75	4.88	0.63580	.	0.048847	0.85682	N	0.000000	T	0.12178	0.0296	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00460	-1.1726	10	0.87932	D	0	.	14.4233	0.67198	0.0715:0.0:0.9285:0.0	.	404	Q16829	DUS7_HUMAN	M	404;353	ENSP00000417183:T404M;ENSP00000296483:T353M	ENSP00000296483:T353M	T	-	2	0	DUSP7	52059920	1.000000	0.71417	0.937000	0.37676	0.813000	0.45954	9.859000	0.99545	1.448000	0.47680	-0.148000	0.13756	ACG		0.622	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		3	53	0	0	0	1	0	3	53				
ATPAF1	64756	broad.mit.edu	37	1	47110844	47110844	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:47110844T>C	ENST00000371937.4	-	7	777	c.673A>G	c.(673-675)Ata>Gta	p.I225V	ATPAF1_ENST00000576409.1_Missense_Mutation_p.I248V|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.I74V|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I137V|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	225					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TGAATATTTATAAGTGCAGTG	0.443																																					Melanoma(138;107 1777 21672 30337 52312)	uc001cqh.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(673-675)Ata>Gta		Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							171.0	165.0	167.0					1																	47110844		2203	4300	6503	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47110844T>C	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.673A>G	1.37:g.47110844T>C	ENSP00000361005:p.Ile225Val		Somatic				ATPAF1_uc009vyk.3_Missense_Mutation_p.I74V|ATPAF1_uc010omg.2_Missense_Mutation_p.I137V|ATPAF1_uc001cqi.3_Intron	p.I225V	NM_022745	NP_073582	WXS	Illumina GAIIx	Phase_I	Q5TC12	ATPF1_HUMAN			6	778	-	Acute lymphoblastic leukemia(166;0.155)		225					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.673A>G		.	.	.	.	.	.	.	.	.	.	T	22.5	4.298470	0.81025	.	.	ENSG00000123472	ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	T	0.47177	0.85	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.79475	2.455	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	D;D	0.85130	0.997;0.967	T	0.67643	-0.5618	10	0.30078	T	0.28	-11.211	16.1678	0.81782	0.0:0.0:0.0:1.0	.	137;225	B7Z7I6;Q5TC12	.;ATPF1_HUMAN	V	225;29;74;137	ENSP00000361005:I225V	ENSP00000361005:I225V	I	-	1	0	ATPAF1	46883431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.992000	0.76238	2.218000	0.71995	0.528000	0.53228	ATA		0.443	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		48	117	0	0	0	1	0	48	117				
NAP1L3	4675	broad.mit.edu	37	X	92928233	92928233	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:92928233C>T	ENST00000373079.3	-	1	334	c.71G>A	c.(70-72)aGc>aAc	p.S24N	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S17N|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	24	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACTAGTCGAGCTAGCCATCTC	0.542																																						uc004efq.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(70-72)aGc>aAc		Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.							54.0	49.0	50.0					X																	92928233		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928233C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.71G>A	X.37:g.92928233C>T	ENSP00000362171:p.Ser24Asn		Somatic				FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	p.S24N	NM_004538	NP_004529	WXS	Illumina GAIIx	Phase_I	Q99457	NP1L3_HUMAN			0	450	-			24			Ser-rich.		B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.71G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073644	0.36566	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.48836	0.8	3.65	1.86	0.25419	.	0.340383	0.31847	N	0.006978	T	0.27278	0.0669	N	0.24115	0.695	0.23585	N	0.997357	B	0.12013	0.005	B	0.09377	0.004	T	0.12091	-1.0561	10	0.45353	T	0.12	.	3.8083	0.08786	0.2387:0.631:0.0:0.1303	.	24	Q99457	NP1L3_HUMAN	N	24;17	ENSP00000362171:S24N	ENSP00000362171:S24N	S	-	2	0	NAP1L3	92814889	0.994000	0.37717	0.985000	0.45067	0.903000	0.53119	0.861000	0.27885	0.377000	0.24735	0.529000	0.55759	AGC		0.542	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		23	67	0	0	0	1	0	23	67				
TTN	7273	broad.mit.edu	37	2	179598614	179598614	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:179598614G>T	ENST00000591111.1	-	51	14775	c.14551C>A	c.(14551-14553)Cca>Aca	p.P4851T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3924T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5168T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12233	Ig-like 29.				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)			ACAAAGGTTGGAGGTTCTAGT	0.368																																						uc021vsy.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.(11770-11772)Cca>Aca		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							51.0	49.0	49.0					2																	179598614		1870	4102	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598614G>T	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.14551C>A	2.37:g.179598614G>T	ENSP00000465570:p.Pro4851Thr		Somatic				TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P585T	p.P3924T	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11995	-			4851					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.11770C>A		.	.	.	.	.	.	.	.	.	.	G	13.37	2.215640	0.39102	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.99	5.99	0.97316	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	D	0.95105	0.8414	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96665	0.9492	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	4851	Q8WZ42	TITIN_HUMAN	T	3924	ENSP00000343764:P3924T	ENSP00000343764:P3924T	P	-	1	0	TTN	179306859	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.395000	0.97266	2.840000	0.97914	0.655000	0.94253	CCA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	34	0	0	0	1	0	6	34				
STT3A	3703	broad.mit.edu	37	11	125476246	125476246	+	Silent	SNP	C	C	T	rs370018090		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr11:125476246C>T	ENST00000529196.1	+	9	872	c.666C>T	c.(664-666)caC>caT	p.H222H	STT3A_ENST00000392708.4_Silent_p.H222H|STT3A_ENST00000531491.1_Silent_p.H130H			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	222					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCCTCTCCACGTCCTCGTGC	0.478																																						uc001qcd.2																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(664-666)caC>caT		Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.		C		0,4402		0,0,2201	371.0	317.0	335.0		666	-6.7	0.8	11		335	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	STT3A	NM_152713.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		222/706	125476246	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125476246C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.666C>T	11.37:g.125476246C>T			Somatic				STT3A_uc009zbm.2_Silent_p.H222H|STT3A_uc001qce.2_Silent_p.H222H|STT3A_uc010sbg.1_Silent_p.H130H|STT3A_uc009zbn.2_5'UTR	p.H222H	NM_152713	NP_689926	WXS	Illumina GAIIx	Phase_I	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	7	776	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	222					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.666C>T	CCDS8458.1																																																																																				0.478	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		4	170	0	0	0	1	0	4	170				
ANK3	288	broad.mit.edu	37	10	61835974	61835974	+	Silent	SNP	C	C	T	rs554877557		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr10:61835974C>T	ENST00000280772.2	-	37	4856	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1555	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATGTAGTTGACGCGCCTAATG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		21743	0.0		0.0	False		,,,				2504	0.001					uc001jky.3																			0		p.A1555T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4663-4665)gcG>gcA		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							215.0	190.0	199.0					10																	61835974		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835974C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4665G>A	10.37:g.61835974C>T			Somatic				ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	p.A1555A	NM_020987	NP_066267	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			36	5003	-			1555			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4665G>A	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	212	0	0	0	1	0	6	212				
KIAA2018	205717	broad.mit.edu	37	3	113377559	113377559	+	Silent	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:113377559T>C	ENST00000478658.1	-	5	2987	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_ENST00000316407.4_Silent_p.S990S|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	990						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393																																						uc003eam.3																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2968-2970)tcA>tcG		Homo sapiens KIAA2018 (KIAA2018), mRNA.							113.0	106.0	108.0					3																	113377559		1870	4096	5966	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377559T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2970A>G	3.37:g.113377559T>C			Somatic				KIAA2018_uc003eal.3_Silent_p.S934S	p.S990S	NM_001009899	NP_001009899	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			6	3381	-			990					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.2970A>G	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		3	105	0	0	0	1	0	3	105				
CAB39L	81617	broad.mit.edu	37	13	49925022	49925022	+	Missense_Mutation	SNP	C	C	T	rs149022536		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr13:49925022C>T	ENST00000355854.4	-	5	919	c.422G>A	c.(421-423)cGt>cAt	p.R141H	CAB39L_ENST00000347776.5_Missense_Mutation_p.R141H|CAB39L_ENST00000410043.1_Missense_Mutation_p.R141H|CAB39L_ENST00000409130.1_5'UTR|CAB39L_ENST00000409308.1_Missense_Mutation_p.R141H	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	141					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.R141H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AATCCCACAACGTAAGGCAAT	0.358																																						uc001vcw.3																			1	Substitution - Missense(1)	p.R141H(2)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(421-423)cGt>cAt		Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	95.0	97.0		422,422	4.8	1.0	13	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CAB39L	NM_001079670.1,NM_030925.2	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	141/338,141/338	49925022	2,13004	2203	4300	6503	SO:0001583	missense	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49925022C>T	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.422G>A	13.37:g.49925022C>T	ENSP00000348113:p.Arg141His		Somatic				CAB39L_uc001vcx.3_Missense_Mutation_p.R141H|CAB39L_uc010adf.3_Missense_Mutation_p.R138H	p.R141H	NM_030925	NP_112187	WXS	Illumina GAIIx	Phase_I	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	4	920	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	141					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	ENST00000355854.4	37	c.422G>A	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354878	0.41700	2.27E-4	1.16E-4	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000425242;ENST00000410043;ENST00000457041	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.64	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);	0.094194	0.85682	D	0.000000	T	0.07818	0.0196	N	0.00377	-1.585	0.43211	D	0.995075	B	0.11235	0.004	B	0.10450	0.005	T	0.16808	-1.0390	9	.	.	.	-6.0057	10.1874	0.43006	0.0:0.8485:0.0:0.1515	.	141	Q9H9S4	CB39L_HUMAN	H	141;141;138;141;104;141;141	ENSP00000348113:R141H;ENSP00000261669:R141H;ENSP00000386375:R141H;ENSP00000416719:R104H;ENSP00000386328:R141H;ENSP00000409253:R141H	.	R	-	2	0	CAB39L	48823023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.194000	0.51005	1.516000	0.48900	0.650000	0.86243	CGT		0.358	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		9	78	0	0	0	1	0	9	78				
HK2	3099	broad.mit.edu	37	2	75113626	75113626	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:75113626G>A	ENST00000290573.2	+	15	2645	c.2045G>A	c.(2044-2046)aGc>aAc	p.S682N	HK2_ENST00000409174.1_Missense_Mutation_p.S654N	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	682	Catalytic.|Hexokinase type-2 2.|Substrate 2 binding.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGCACGGGCAGCAATGCCTGC	0.592																																						uc002snd.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2044-2046)aGc>aAc		Homo sapiens hexokinase 2 (HK2), mRNA.							104.0	96.0	99.0					2																	75113626		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113626G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2045G>A	2.37:g.75113626G>A	ENSP00000290573:p.Ser682Asn		Somatic					p.S682N	NM_000189	NP_000180	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			14	3971	+			682			Catalytic.|Substrate 2 binding.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2045G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530729	0.64860	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96745	-4.11;-4.11	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.036056	0.85682	D	0.000000	D	0.97151	0.9069	M	0.92412	3.305	0.48762	D	0.999703	P	0.40578	0.722	B	0.41202	0.35	D	0.97807	1.0248	10	0.66056	D	0.02	-27.503	16.9239	0.86170	0.0:0.0:1.0:0.0	.	682	P52789	HXK2_HUMAN	N	682;682;654	ENSP00000290573:S682N;ENSP00000387140:S654N	ENSP00000290573:S682N	S	+	2	0	HK2	74967134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.990000	0.49401	2.865000	0.98341	0.655000	0.94253	AGC		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		3	92	0	0	0	1	0	3	92				
CHRND	1144	broad.mit.edu	37	2	233398945	233398945	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:233398945G>A	ENST00000258385.3	+	11	1296	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	CHRND_ENST00000543200.1_Missense_Mutation_p.A407T|CHRND_ENST00000457943.2_Missense_Mutation_p.A228T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	422					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCGGCCCCCAGCAAGCTCTGA	0.592																																						uc002vsw.3																			0		p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(1264-1266)Gca>Aca		Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.							47.0	51.0	50.0					2																	233398945		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233398945G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1264G>A	2.37:g.233398945G>A	ENSP00000258385:p.Ala422Thr		Somatic				CHRND_uc010zmg.2_Missense_Mutation_p.A407T|CHRND_uc010zmh.2_Missense_Mutation_p.A228T	p.A422T	NM_000751	NP_000742	WXS	Illumina GAIIx	Phase_I	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	10	1268	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	422					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.1264G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.139802	0.37728	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.85171	-1.95;-1.95;-1.95	5.19	3.27	0.37495	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.020910	0.07976	U	0.984799	T	0.73938	0.3651	N	0.16066	0.365	0.18873	N	0.999982	B;B;B;B	0.33777	0.425;0.32;0.32;0.32	B;B;B;B	0.34301	0.089;0.179;0.179;0.179	T	0.56878	-0.7906	10	0.12430	T	0.62	.	12.2737	0.54721	0.0:0.2352:0.7648:0.0	.	228;407;422;422	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	T	407;422;228	ENSP00000438380:A407T;ENSP00000258385:A422T;ENSP00000391055:A228T	ENSP00000258385:A422T	A	+	1	0	CHRND	233107189	0.000000	0.05858	0.970000	0.41538	0.903000	0.53119	0.291000	0.18994	1.164000	0.42652	0.457000	0.33378	GCA		0.592	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			3	59	0	0	0	1	0	3	59				
DZIP3	9666	broad.mit.edu	37	3	108405390	108405390	+	Silent	SNP	A	A	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:108405390A>G	ENST00000361582.3	+	28	3338	c.3108A>G	c.(3106-3108)agA>agG	p.R1036R	DZIP3_ENST00000463306.1_Silent_p.R1036R	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1036					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTGGGAGAGAATTACAGACA	0.498																																						uc003dxd.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(3106-3108)agA>agG		Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.							123.0	122.0	123.0					3																	108405390		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108405390A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3108A>G	3.37:g.108405390A>G			Somatic				DZIP3_uc003dxf.1_Silent_p.R1036R|DZIP3_uc011bhm.2_Silent_p.R487R	p.R1036R	NM_014648	NP_055463	WXS	Illumina GAIIx	Phase_I	Q86Y13	DZIP3_HUMAN			27	3530	+			1036					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.3108A>G	CCDS2952.1																																																																																				0.498	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		20	129	0	0	0	1	0	20	129				
ABCD1	215	broad.mit.edu	37	X	152991293	152991293	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:152991293G>A	ENST00000218104.3	+	1	971	c.572G>A	c.(571-573)cGc>cAc	p.R191H	BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_Missense_Mutation_p.R6H|BCAP31_ENST00000345046.6_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	191	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCGGCTTCGCAACCCTGAC	0.647																																						uc004fif.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(571-573)cGc>cAc		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							84.0	75.0	78.0					X																	152991293		2203	4299	6502	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152991293G>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.572G>A	X.37:g.152991293G>A	ENSP00000218104:p.Arg191His		Somatic				BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	p.R191H	NM_000033	NP_000024	WXS	Illumina GAIIx	Phase_I	P33897	ABCD1_HUMAN			0	971	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		191			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.572G>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963211	0.74016	.	.	ENSG00000101986	ENST00000218104;ENST00000370129	D;D	0.99619	-6.28;-6.28	5.37	5.37	0.77165	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.205236	0.43416	D	0.000563	D	0.98994	0.9657	L	0.29908	0.895	0.35957	D	0.834337	D	0.61697	0.99	P	0.56648	0.803	D	0.99968	1.1909	10	0.56958	D	0.05	-27.7204	16.8847	0.86072	0.0:0.0:1.0:0.0	.	191	P33897	ABCD1_HUMAN	H	191;6	ENSP00000218104:R191H;ENSP00000359147:R6H	ENSP00000218104:R191H	R	+	2	0	ABCD1	152644487	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.926000	0.56491	2.247000	0.74100	0.529000	0.55759	CGC		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		15	103	0	0	0	1	0	15	103				
VPS13D	55187	broad.mit.edu	37	1	12387912	12387912	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:12387912G>A	ENST00000358136.3	+	36	8327		c.e36+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTTTTCCCGTGAGTGTTGT	0.403																																						uc001atv.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.e36+1		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							138.0	122.0	128.0					1																	12387912		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12387912G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8197+1G>A	1.37:g.12387912G>A			Somatic				VPS13D_uc001atw.3_Splice_Site_p.R2733_splice|VPS13D_uc001atx.3_Splice_Site_p.R1921_splice|VPS13D_uc001aty.1_Splice_Site_p.R471_splice	p.R2733_splice	NM_015378	NP_056193	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	36	8338	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2733						Splice_Site	SNP	ENST00000358136.3	37	c.8197_splice	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872072	0.91587	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12310499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	2.750000	0.94351	0.655000	0.94253	.		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	3	38	0	0	0	1	0	3	38				
AZIN2	113451	broad.mit.edu	37	1	33583639	33583639	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:33583639C>T	ENST00000294517.6	+	11	1753	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	ADC_ENST00000398167.1_Missense_Mutation_p.A409V|ADC_ENST00000373441.1_Missense_Mutation_p.A409V|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.A389V	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		389					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	AACATGGGCGCCTACACTGTG	0.632																																						uc009vug.3																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1225-1227)gCc>gTc		Homo sapiens arginine decarboxylase (ADC), mRNA.	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						61.0	68.0	65.0					1																	33583639		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583639C>T																												ENST00000294517.6:c.1166C>T	1.37:g.33583639C>T	ENSP00000294517:p.Ala389Val		Somatic				ADC_uc001bwr.3_Missense_Mutation_p.A389V|ADC_uc001bws.3_Missense_Mutation_p.A389V|ADC_uc009vue.3_Missense_Mutation_p.A389V|ADC_uc001bwt.1_Missense_Mutation_p.A294V|ADC_uc001bwu.3_Missense_Mutation_p.A294V|ADC_uc001bwv.3_Missense_Mutation_p.A294V|ADC_uc001bwx.1_Missense_Mutation_p.A366V	p.A409V	NM_052998	NP_443724	WXS	Illumina GAIIx	Phase_I	Q96A70	ADC_HUMAN			7	1298	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	389					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1226C>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143370	0.77888	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.92	4.92	0.64577	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.000000	0.64402	D	0.000010	D	0.87354	0.6156	H	0.96460	3.825	0.80722	D	1	P;D;D	0.63046	0.93;0.992;0.992	P;P;P	0.57283	0.677;0.817;0.817	D	0.91748	0.5410	10	0.87932	D	0	-16.7378	17.2711	0.87102	0.0:1.0:0.0:0.0	.	409;294;389	Q96A70-2;D3DPR0;Q96A70	.;.;ADC_HUMAN	V	389;389;409;409	ENSP00000294517:A389V;ENSP00000362542:A389V;ENSP00000381233:A409V;ENSP00000362540:A409V	ENSP00000294517:A389V	A	+	2	0	ADC	33356226	1.000000	0.71417	0.998000	0.56505	0.231000	0.25187	7.474000	0.81024	2.434000	0.82447	0.603000	0.83216	GCC		0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			13	56	0	0	0	1	0	13	56				
HIPK1	204851	broad.mit.edu	37	1	114499825	114499825	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr1:114499825C>T	ENST00000369558.1	+	7	1904	c.1672C>T	c.(1672-1674)Ccc>Tcc	p.P558S	HIPK1_ENST00000426820.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369553.1_Missense_Mutation_p.P164S|HIPK1_ENST00000406344.1_Missense_Mutation_p.P164S|HIPK1_ENST00000369561.4_Intron|HIPK1_ENST00000369555.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369554.2_Missense_Mutation_p.P558S|HIPK1_ENST00000369559.4_Missense_Mutation_p.P558S|HIPK1_ENST00000340480.4_Missense_Mutation_p.P184S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	558					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCAAGAGTCCCTTCACTAC	0.388																																						uc001eem.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1672-1674)Ccc>Tcc		Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.							152.0	128.0	136.0					1																	114499825		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114499825C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1672C>T	1.37:g.114499825C>T	ENSP00000358571:p.Pro558Ser		Somatic				HIPK1_uc001eel.3_Missense_Mutation_p.P558S|HIPK1_uc001een.3_Missense_Mutation_p.P558S|HIPK1_uc001eeo.3_Missense_Mutation_p.P184S|HIPK1_uc001eep.3_Missense_Mutation_p.P164S	p.P558S	NM_198268	NP_938010	WXS	Illumina GAIIx	Phase_I	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1833	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	558					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.1672C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380031	0.42207	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.50277	0.77;0.79;0.82;0.75;0.75;0.82;3.82;1.91;1.91	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.44993	0.1320	L	0.31752	0.955	0.47819	D	0.999525	P;P;D	0.67145	0.699;0.9;0.996	B;B;D	0.78314	0.306;0.362;0.991	T	0.11867	-1.0570	10	0.09843	T	0.71	.	19.2559	0.93945	0.0:1.0:0.0:0.0	.	164;558;558	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	S	629;558;558;558;558;558;184;164;164	ENSP00000407442:P629S;ENSP00000358572:P558S;ENSP00000409673:P558S;ENSP00000358567:P558S;ENSP00000358568:P558S;ENSP00000358571:P558S;ENSP00000340956:P184S;ENSP00000358566:P164S;ENSP00000384960:P164S	ENSP00000340956:P184S	P	+	1	0	HIPK1	114301348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.592000	0.53993	2.861000	0.98227	0.650000	0.86243	CCC		0.388	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		6	122	0	0	0	1	0	6	122				
GOLPH3	64083	broad.mit.edu	37	5	32126343	32126343	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:32126343G>A	ENST00000265070.6	-	4	1187	c.872C>T	c.(871-873)gCg>gTg	p.A291V	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CGCCACCACCGCCCACAGAAC	0.498																																						uc003jhp.1																			0		p.W290L(1)|p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(871-873)gCg>gTg		Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.							115.0	110.0	112.0					5																	32126343		2203	4300	6503	SO:0001583	missense	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126343G>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.872C>T	5.37:g.32126343G>A	ENSP00000265070:p.Ala291Val		Somatic					p.A291V	NM_022130	NP_071413	WXS	Illumina GAIIx	Phase_I	Q9H4A6	GOLP3_HUMAN			3	1157	-			291					Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	c.872C>T	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786740	0.49997	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	P	0.60345	0.873	T	0.83166	-0.0096	9	0.56958	D	0.05	.	15.3777	0.74625	0.0664:0.0:0.9336:0.0	.	291	Q9H4A6	GOLP3_HUMAN	V	291;274	.	ENSP00000265070:A291V	A	-	2	0	GOLPH3	32162100	1.000000	0.71417	0.932000	0.37286	0.066000	0.16364	9.414000	0.97362	1.595000	0.50050	-0.136000	0.14681	GCG		0.498	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		10	179	0	0	0	1	0	10	179				
RENBP	5973	broad.mit.edu	37	X	153207421	153207421	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chrX:153207421C>G	ENST00000393700.3	-	7	831	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RENBP_ENST00000369997.3_Missense_Mutation_p.G237R|RENBP_ENST00000412763.1_Intron|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	251					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTGTCTCCCCAGGCAGCCA	0.627																																						uc004fjo.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(751-753)Ggg>Cgg		Homo sapiens renin binding protein (RENBP), mRNA.	N-Acetyl-D-glucosamine(DB00141)						95.0	85.0	89.0					X																	153207421		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity	g.chrX:153207421C>G		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.751G>C	X.37:g.153207421C>G	ENSP00000377303:p.Gly251Arg		Somatic				RENBP_uc011mzh.1_Intron	p.G251R	NM_002910	NP_002901	WXS	Illumina GAIIx	Phase_I	P51606	RENBP_HUMAN			6	921	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.751G>C	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	22.0	4.235688	0.79800	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.35421	1.31;1.31	4.92	4.92	0.64577	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78635	-0.2127	10	0.87932	D	0	-29.8075	15.9723	0.80031	0.0:1.0:0.0:0.0	.	251	P51606	RENBP_HUMAN	R	251;237	ENSP00000377303:G251R;ENSP00000359014:G237R	ENSP00000359014:G237R	G	-	1	0	RENBP	152860615	1.000000	0.71417	0.936000	0.37596	0.592000	0.36648	4.865000	0.62998	2.018000	0.59344	0.429000	0.28392	GGG		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		56	195	0	0	0	1	0	56	195				
FAM161A	84140	broad.mit.edu	37	2	62081111	62081111	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:62081111G>C	ENST00000405894.3	-	1	167	c.66C>G	c.(64-66)atC>atG	p.I22M	FAM161A_ENST00000404929.1_Missense_Mutation_p.I22M	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	22					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGCTCCAGTGATGGGATTTA	0.672																																						uc002sbm.4																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(64-66)atC>atG		Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.							29.0	29.0	29.0					2																	62081111		1568	3582	5150	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62081111G>C		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.66C>G	2.37:g.62081111G>C	ENSP00000385893:p.Ile22Met		Somatic				FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Missense_Mutation_p.I22M|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR	p.I22M	NM_001201543	NP_001188472	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			0	168	-			22					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.66C>G	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087274	0.20390	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.22539	2.76;1.95	4.08	2.23	0.28157	.	.	.	.	.	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;P	0.35124	0.353;0.485	B;B	0.34652	0.123;0.187	T	0.19484	-1.0304	9	0.44086	T	0.13	.	5.7186	0.17974	0.1073:0.1975:0.6951:0.0	.	22;22	Q3B820;Q3B820-3	F161A_HUMAN;.	M	22	ENSP00000385158:I22M;ENSP00000385893:I22M	ENSP00000303170:I22M	I	-	3	3	FAM161A	61934615	0.021000	0.18746	0.022000	0.16811	0.011000	0.07611	0.593000	0.23999	0.655000	0.30866	-0.244000	0.11960	ATC		0.672	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		15	20	0	0	0	1	0	15	20				
ARFGEF2	10564	broad.mit.edu	37	20	47611096	47611096	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr20:47611096C>T	ENST00000371917.4	+	22	3082	c.3082C>T	c.(3082-3084)Cac>Tac	p.H1028Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1028					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTGAAGGGCCACACATTGGC	0.572																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3082-3084)Cac>Tac		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							61.0	51.0	54.0					20																	47611096		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611096C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3082C>T	20.37:g.47611096C>T	ENSP00000360985:p.His1028Tyr		Somatic				ARFGEF2_uc010zyf.2_Missense_Mutation_p.H321Y	p.H1028Y	NM_006420	NP_006411	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		21	3234	+			1028					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3082C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	4.054	0.007673	0.07866	.	.	ENSG00000124198	ENST00000371917	T	0.22945	1.93	5.65	2.21	0.28008	Armadillo-type fold (1);	0.451658	0.26887	N	0.021996	T	0.13457	0.0326	N	0.22421	0.69	0.30641	N	0.756472	B	0.02656	0.0	B	0.01281	0.0	T	0.10497	-1.0627	10	0.25751	T	0.34	.	5.3664	0.16115	0.0:0.4789:0.0:0.5211	.	1028	Q9Y6D5	BIG2_HUMAN	Y	1028	ENSP00000360985:H1028Y	ENSP00000360985:H1028Y	H	+	1	0	ARFGEF2	47044503	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	1.346000	0.33964	0.866000	0.35629	0.655000	0.94253	CAC		0.572	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		5	37	0	0	0	1	0	5	37				
CBLB	868	broad.mit.edu	37	3	105464772	105464772	+	Silent	SNP	G	G	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:105464772G>T	ENST00000264122.4	-	6	1155	c.834C>A	c.(832-834)acC>acA	p.T278T	CBLB_ENST00000403724.1_Silent_p.T278T|CBLB_ENST00000394027.3_Silent_p.T300T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.T278T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	278	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTCCGGGTTTGGTGCTATATT	0.373			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.3				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(832-834)acC>acA		Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.							144.0	154.0	151.0					3																	105464772		2203	4300	6503	SO:0001819	synonymous_variant	868				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105464772G>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.834C>A	3.37:g.105464772G>T			Somatic				CBLB_uc011bhi.2_Silent_p.T300T|CBLB_uc003dwd.2_Silent_p.T278T|CBLB_uc003dwe.2_Silent_p.T278T|CBLB_uc011bhj.1_Non-coding_Transcript	p.T278T	NM_170662	NP_733762	WXS	Illumina GAIIx	Phase_I	Q13191	CBLB_HUMAN			5	1156	-			278			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.834C>A	CCDS2948.1																																																																																				0.373	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		10	169	0	0	0	1	0	10	169				
SLC41A3	54946	broad.mit.edu	37	3	125786908	125786908	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr3:125786908G>A	ENST00000315891.6	-	2	393	c.155C>T	c.(154-156)cCa>cTa	p.P52L	AC117422.1_ENST00000581281.1_RNA|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P52L|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P52L|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGTCTCCAGTGGCTTGGGGGT	0.632																																						uc003eij.3																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(154-156)cCa>cTa		Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.							111.0	107.0	108.0					3																	125786908		2203	4300	6503	SO:0001583	missense	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125786908G>A		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.155C>T	3.37:g.125786908G>A	ENSP00000326070:p.Pro52Leu		Somatic				SLC41A3_uc003eil.3_Missense_Mutation_p.P52L|SLC41A3_uc003eik.3_Missense_Mutation_p.P52L|SLC41A3_uc011bkh.2_Intron|SLC41A3_uc010hsd.1_Missense_Mutation_p.P52L	p.P52L	NM_001008485	NP_001008485	WXS	Illumina GAIIx	Phase_I	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	1	381	-			52					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	c.155C>T	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	7.387	0.630085	0.14257	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000458524;ENST00000315891;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651;ENST00000514333;ENST00000507280;ENST00000514891;ENST00000504035;ENST00000509064;ENST00000509452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	3.95	-0.71	0.11234	.	0.793313	0.10312	N	0.689888	T	0.16727	0.0402	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.10296	0.0;0.001;0.003;0.003	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.34700	-0.9818	10	0.11182	T	0.66	0.5592	5.3577	0.16071	0.1074:0.0:0.3311:0.5615	.	52;52;52;52	A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6	.;.;.;S41A3_HUMAN	L	52	ENSP00000353533:P52L;ENSP00000264471:P52L;ENSP00000326070:P52L;ENSP00000422828:P52L;ENSP00000425373:P52L;ENSP00000421008:P52L;ENSP00000423524:P52L;ENSP00000422458:P52L;ENSP00000422531:P52L;ENSP00000423154:P52L;ENSP00000421940:P52L;ENSP00000424882:P52L;ENSP00000422150:P52L	ENSP00000326070:P52L	P	-	2	0	SLC41A3	127269598	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.443000	0.21644	0.039000	0.15632	-0.182000	0.12963	CCA		0.632	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		13	126	0	0	0	1	0	13	126				
CD74	972	broad.mit.edu	37	5	149782174	149782174	+	Missense_Mutation	SNP	C	C	T	rs139226964		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:149782174C>T	ENST00000009530.7	-	8	833	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CD74_ENST00000377795.3_Nonsense_Mutation_p.W152*|CD74_ENST00000353334.6_Missense_Mutation_p.E214K|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	278					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGTCCTCCAGTTCCAGT	0.602			T	ROS1	NSCLC																																	uc003lse.3				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(454-456)tgG>tgA		Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 3, mRNA.		C	stop/TRP,LYS/GLU,LYS/GLU	0,4406		0,0,2203	122.0	103.0	109.0		456,832,640	3.7	0.2	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,missense,missense	CD74	NM_001025158.2,NM_001025159.2,NM_004355.3	,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign	152/161,278/297,214/233	149782174	1,13005	2203	4300	6503	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding	g.chr5:149782174C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.832G>A	5.37:g.149782174C>T	ENSP00000009530:p.Glu278Lys		Somatic				CD74_uc003lsc.3_Missense_Mutation_p.E278K|CD74_uc003lsd.3_Missense_Mutation_p.E214K	p.W152*	NM_001025158	NP_001020329	WXS	Illumina GAIIx	Phase_I	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	643	-		all_hematologic(541;0.224)	0					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Nonsense_Mutation	SNP	ENST00000009530.7	37	c.456G>A	CCDS47309.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.29|13.29|13.29	2.194213|2.194213|2.194213	0.38707|0.38707|0.38707	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000019582|ENSG00000019582|ENSG00000019582	ENST00000353334;ENST00000009530|ENST00000518797|ENST00000377795	T|.|.	0.58210|.|.	0.35|.|.	3.7|3.7|3.7	3.7|3.7|3.7	0.42460|0.42460|0.42460	.|.|.	0.305787|.|.	0.35903|.|.	N|.|.	0.002906|.|.	T|T|.	0.32526|0.32526|.	0.0832|0.0832|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;D;D|.|.	0.67145|.|.	0.996;0.963;0.993|.|.	D;B;D|.|.	0.75484|.|.	0.986;0.431;0.968|.|.	T|T|.	0.12915|0.12915|.	-1.0529|-1.0529|.	9|4|.	0.52906|.|0.18276	T|.|T	0.07|.|0.48	-26.0103|-26.0103|-26.0103	11.3263|11.3263|11.3263	0.49450|0.49450|0.49450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	214;278;126|.|.	P04233-2;P04233;B4DUJ2|.|.	.;HG2A_HUMAN;.|.|.	K|E|X	214;278|272|152	ENSP00000009530:E278K|.|.	ENSP00000009530:E278K|.|ENSP00000367026:W152X	E|G|W	-|-|-	1|2|3	0|0|0	CD74|CD74|CD74	149762367|149762367|149762367	0.765000|0.765000|0.765000	0.28485|0.28485|0.28485	0.170000|0.170000|0.170000	0.22879|0.22879|0.22879	0.103000|0.103000|0.103000	0.19146|0.19146|0.19146	2.894000|2.894000|2.894000	0.48640|0.48640|0.48640	2.384000|2.384000|2.384000	0.81235|0.81235|0.81235	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAG|GGA|TGG		0.602	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		4	183	0	0	0	1	0	4	183				
TMEM71	137835	broad.mit.edu	37	8	133740227	133740227	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr8:133740227C>T	ENST00000356838.3	-	6	578	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.D165N	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	165						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CAGTCTAAATCATCTGCTGAA	0.478																																						uc003ytn.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(436-438)Gat>Aat		Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.							59.0	57.0	58.0					8																	133740227		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133740227C>T	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.436G>A	8.37:g.133740227C>T	ENSP00000349296:p.Asp146Asn		Somatic				TMEM71_uc003ytm.2_5'UTR|TMEM71_uc003yto.3_Intron	p.D146N	NM_144649	NP_653250	WXS	Illumina GAIIx	Phase_I	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		5	665	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		165					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.436G>A	CCDS6366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.619494|1.619494	0.28801|0.28801	.|.	.|.	ENSG00000165071|ENSG00000165071	ENST00000523829;ENST00000356838|ENST00000522780	.|.	.|.	.|.	5.91|5.91	2.99|2.99	0.34606|0.34606	.|.	0.407172|.	0.24479|.	N|.	0.038165|.	T|T	0.48003|0.48003	0.1476|0.1476	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.01;0.01|.	B;B|.	0.17098|.	0.017;0.015|.	T|T	0.36720|0.36720	-0.9736|-0.9736	9|5	0.59425|.	D|.	0.04|.	-2.0827|-2.0827	7.3154|7.3154	0.26498|0.26498	0.0:0.6866:0.1542:0.1593|0.0:0.6866:0.1542:0.1593	.|.	165;146|.	Q6P5X7;Q6P5X7-2|.	TMM71_HUMAN;.|.	N|I	165;146|2	.|.	ENSP00000349296:D146N|.	D|M	-|-	1|3	0|0	TMEM71|TMEM71	133809409|133809409	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.035000|0.035000	0.12851|0.12851	0.206000|0.206000	0.17375|0.17375	0.850000|0.850000	0.35239|0.35239	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.478	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		9	60	0	0	0	1	0	9	60				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	56	0	0	0	1	0	37	56				
C2	717	broad.mit.edu	37	6	31911265	31911265	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr6:31911265C>T	ENST00000299367.5	+	12	1804	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	CFB_ENST00000456570.1_Missense_Mutation_p.R357C|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Missense_Mutation_p.R264C|C2_ENST00000452323.2_Missense_Mutation_p.R296C|CFB_ENST00000477310.1_Missense_Mutation_p.R281C|CFB_ENST00000556679.1_Missense_Mutation_p.R357C|C2_ENST00000442278.2_Missense_Mutation_p.R378C	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	510	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCATTGCTTCCGCGATGGCAA	0.597																																						uc011dor.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1069-1071)Cgc>Tgc		Homo sapiens complement factor B (CFB), mRNA.							104.0	120.0	114.0					6																	31911265		1510	2708	4218	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911265C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1528C>T	6.37:g.31911265C>T	ENSP00000299367:p.Arg510Cys		Somatic				CFB_uc003nyc.2_Missense_Mutation_p.R297C|CFB_uc011doo.2_Missense_Mutation_p.R264C|CFB_uc011dop.2_Missense_Mutation_p.R296C|CFB_uc003nyf.3_Missense_Mutation_p.R510C|CFB_uc010jtk.3_Missense_Mutation_p.R378C|CFB_uc011doq.2_Missense_Mutation_p.R481C|CFB_uc003nyh.2_Missense_Mutation_p.R161C|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.4_5'Flank	p.R357C	NM_001710	NP_001701	WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			8	1333	+			529	KK -> EE (in Ref. 10; AAA36225).		VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.1069C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316574	0.40996	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	D;D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.11	4.22	0.49857	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.726383	0.11289	N	0.579431	D	0.87826	0.6275	M	0.70787	2.145	0.31484	N	0.666765	D;D;D;D;D;D;D;P;D	0.71674	0.98;0.998;0.997;0.982;0.991;0.996;0.982;0.938;0.99	B;P;P;P;P;P;P;P;P	0.54924	0.408;0.764;0.667;0.667;0.576;0.56;0.576;0.642;0.598	T	0.80623	-0.1300	10	0.38643	T	0.18	-3.0248	10.6626	0.45710	0.3468:0.6532:0.0:0.0	.	357;481;296;264;378;195;378;510;297	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	C	264;297;297;296;510;195;378;357;357;281	ENSP00000418923:R264C;ENSP00000417482:R297C;ENSP00000392322:R296C;ENSP00000299367:R510C;ENSP00000395683:R378C;ENSP00000451848:R357C;ENSP00000410815:R357C;ENSP00000418996:R281C	ENSP00000299367:R510C	R	+	1	0	CFB;C2;XXbac-BPG116M5.17	32019244	0.012000	0.17670	0.807000	0.32361	0.088000	0.18126	-0.029000	0.12329	1.125000	0.41998	0.563000	0.77884	CGC		0.597	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			21	174	0	0	0	1	0	21	174				
PCDHA11	56138	broad.mit.edu	37	5	140249717	140249717	+	Silent	SNP	C	C	T	rs371110623		TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr5:140249717C>T	ENST00000398640.2	+	1	1029	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACACCAACGATAACTCTC	0.512																																						uc003lia.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1027-1029)aaC>aaT		Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.		C	,,,,,,,,,,,,,,	0,4406		0,0,2203	61.0	70.0	67.0		,,1029,,,,,,,,,,,,1029	-4.4	0.3	5		67	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,,,,,,	,,343/950,,,,,,,,,,,,343/811	140249717	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140249717C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1029C>T	5.37:g.140249717C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.N343N	p.N343N	NM_018902	NP_061725	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1887	+			359			Cadherin 3.		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1029C>T	CCDS47284.1																																																																																				0.512	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		3	97	0	0	0	1	0	3	97				
ABCB11	8647	broad.mit.edu	37	2	169781177	169781177	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr2:169781177T>C	ENST00000263817.6	-	27	3879	c.3755A>G	c.(3754-3756)gAa>gGa	p.E1252G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1252	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTTTCACTTTCTGTGTCTAA	0.363																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3754-3756)gAa>gGa		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						97.0	97.0	97.0					2																	169781177		1857	4096	5953	SO:0001583	missense	8647				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169781177T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3755A>G	2.37:g.169781177T>C	ENSP00000263817:p.Glu1252Gly		Somatic				ABCB11_uc010zda.1_Missense_Mutation_p.E670G|ABCB11_uc010zdb.1_Missense_Mutation_p.E728G	p.E1252G	NM_003742	NP_003733	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			26	3881	-			1252			ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3755A>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725880	0.89298	.	.	ENSG00000073734	ENST00000263817	D	0.85484	-1.99	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92917	0.6352	10	0.87932	D	0	-4.0579	15.9338	0.79686	0.0:0.0:0.0:1.0	.	670;1252	B4DZQ8;O95342	.;ABCBB_HUMAN	G	1252	ENSP00000263817:E1252G	ENSP00000263817:E1252G	E	-	2	0	ABCB11	169489423	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.167000	0.68274	0.456000	0.33151	GAA		0.363	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		6	72	0	0	0	1	0	6	72				
GTF2IRD1	9569	broad.mit.edu	37	7	73927266	73927266	+	Missense_Mutation	SNP	G	G	A	rs191451503	byFrequency	TCGA-IM-A3U3-01A-11D-A22D-08	TCGA-IM-A3U3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d433dcf-1aa3-462a-8ab3-6de005ad8f69	cf90d01b-1750-4167-9b0a-ca680081e70f	g.chr7:73927266G>A	ENST00000265755.3	+	3	623	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R77Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R77Q	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	77					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAATGCCCGGAAGGAGCTA	0.637													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17386	0.0		0.0	False		,,,				2504	0.0					uc010lbq.3																			0		p.A76V(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(229-231)cGg>cAg		Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 3, mRNA.							97.0	83.0	87.0					7																	73927266		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927266G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.230G>A	7.37:g.73927266G>A	ENSP00000265755:p.Arg77Gln		Somatic				GTF2IRD1_uc003uap.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uaq.3_Missense_Mutation_p.R77Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R77Q	p.R77Q	NM_001199207	NP_001186136	WXS	Illumina GAIIx	Phase_I	Q9UHL9	GT2D1_HUMAN			2	623	+			77					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.230G>A	CCDS5571.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.536166	0.96460	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.58940	0.33;0.4;0.37;0.3	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.994;0.996;0.998	T	0.77485	-0.2570	10	0.87932	D	0	-16.0288	16.5297	0.84355	0.0:0.0:1.0:0.0	.	77;77;77;77	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	Q	77	ENSP00000265755:R77Q;ENSP00000397566:R77Q;ENSP00000408477:R77Q;ENSP00000418383:R77Q	ENSP00000265755:R77Q	R	+	2	0	GTF2IRD1	73565202	1.000000	0.71417	0.914000	0.36105	0.956000	0.61745	8.865000	0.92300	2.219000	0.72066	0.650000	0.86243	CGG		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		3	98	0	0	0	1	0	3	98				
