#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
MELK	9833	broad.mit.edu	37	9	36607602	36607602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr9:36607602T>C	ENST00000298048.2	+	8	782	c.598T>C	c.(598-600)Tat>Cat	p.Y200H	MELK_ENST00000545008.1_Missense_Mutation_p.Y129H|MELK_ENST00000536860.1_Missense_Mutation_p.Y152H|MELK_ENST00000538311.1_Missense_Mutation_p.Y6H|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536987.1_Missense_Mutation_p.Y69H|MELK_ENST00000536329.1_Missense_Mutation_p.Y129H|MELK_ENST00000541717.1_Missense_Mutation_p.Y200H|MELK_ENST00000543751.1_Missense_Mutation_p.Y168H	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CATACTGTTATATGTTCTTAT	0.328																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(502-504)Tat>Cat		maternal embryonic leucine zipper kinase							224.0	219.0	220.0					9																	36607602		2203	4300	6503	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36607602T>C	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.598T>C	9.37:g.36607602T>C	ENSP00000298048:p.Tyr200His		Somatic				MELK_ENST00000541717.1_Missense_Mutation_p.Y200H|MELK_ENST00000538311.1_Missense_Mutation_p.Y6H|MELK_ENST00000545008.1_Missense_Mutation_p.Y129H|MELK_ENST00000536860.1_Missense_Mutation_p.Y152H|MELK_ENST00000536987.1_Missense_Mutation_p.Y69H|MELK_ENST00000536329.1_Missense_Mutation_p.Y129H|MELK_ENST00000298048.2_Missense_Mutation_p.Y200H|MELK_ENST00000487398.1_3'UTR	p.Y168H	NM_001256689.1	NP_001243618.1	WXS	Illumina GAIIx	Phase_I	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	647	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	200			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.502T>C	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392639	0.83011	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.30448	1.53;1.8;1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052006	0.85682	D	0.000000	T	0.57257	0.2041	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;0.998;0.997;1.0;0.999;0.998	T	0.61367	-0.7077	10	0.87932	D	0	-14.052	15.8775	0.79178	0.0:0.0:0.0:1.0	.	120;129;152;200;129;168;200	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	H	200;6;69;129;152;129;200;168	ENSP00000298048:Y200H;ENSP00000438226:Y6H;ENSP00000439184:Y69H;ENSP00000445452:Y129H;ENSP00000439792:Y152H;ENSP00000443550:Y129H;ENSP00000437804:Y200H;ENSP00000441596:Y168H	ENSP00000298048:Y200H	Y	+	1	0	MELK	36597602	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	6.575000	0.74018	2.228000	0.72767	0.482000	0.46254	TAT		0.328	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		4	362	0	0	0	0.150653	0	4	362				
UTP14A	10813	broad.mit.edu	37	X	129058772	129058772	+	Splice_Site	SNP	T	T	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chrX:129058772T>G	ENST00000394422.3	+	12	1378	c.1350T>G	c.(1348-1350)gaT>gaG	p.D450E	UTP14A_ENST00000371051.5_Splice_Site_p.D396E|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Splice_Site_p.D282E|UTP14A_ENST00000425117.2_Splice_Site_p.D398E	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	450					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCCCCAGATTCTGGCAGCC	0.448																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.e12-1		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							143.0	154.0	150.0					X																	129058772		2202	4295	6497	SO:0001630	splice_region_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129058772T>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1349-1T>G	X.37:g.129058772T>G			Somatic				UTP14A_ENST00000371051.5_Splice_Site_p.D396_splice|UTP14A_ENST00000371042.3_Splice_Site_p.D282_splice|UTP14A_ENST00000425117.2_Splice_Site_p.D398_splice|RP4-537K23.4_ENST00000432062.1_RNA	p.D450_splice	NM_006649.3	NP_006640.2	WXS	Illumina GAIIx	Phase_I	Q9BVJ6	UT14A_HUMAN			12	1378	+			450					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Splice_Site	SNP	ENST00000394422.3	37	c.1348_splice	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520660	0.27211	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	6.08	3.58	0.41010	.	0.324971	0.34628	N	0.003806	T	0.14442	0.0349	M	0.66439	2.03	0.20926	N	0.999823	B;B;B	0.23442	0.057;0.085;0.049	B;B;B	0.23275	0.037;0.045;0.038	T	0.21449	-1.0245	10	0.12103	T	0.63	.	4.8228	0.13400	0.1698:0.0932:0.0:0.737	.	396;398;450	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	E	398;450;396;282;282	ENSP00000388669:D398E;ENSP00000377944:D450E;ENSP00000360090:D396E;ENSP00000413187:D282E;ENSP00000360081:D282E	ENSP00000360081:D282E	D	+	3	2	UTP14A	128886453	0.956000	0.32656	0.955000	0.39395	0.180000	0.23129	1.296000	0.33389	2.044000	0.60594	0.486000	0.48141	GAT		0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649	Missense_Mutation	6	682	0	0	0	0.248553	0	6	682				
CARF	79800	broad.mit.edu	37	2	203826186	203826186	+	Intron	SNP	G	G	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:203826186G>C	ENST00000402905.3	+	8	1153				CARF_ENST00000545253.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.S290T|CARF_ENST00000434998.1_Missense_Mutation_p.S188T|CARF_ENST00000320443.8_Intron|CARF_ENST00000438828.2_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000414439.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_Intron	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor						cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGTTCAGCAGCAGCCATAGT	0.323																																						ENST00000444724.1																			0											c.(868-870)aGc>aCc		calcium responsive transcription factor							18.0	19.0	19.0					2																	203826186		1816	4075	5891	SO:0001627	intron_variant	79800							g.chr2:203826186G>C	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.832+37G>C	2.37:g.203826186G>C			Somatic				CARF_ENST00000545253.1_Intron|CARF_ENST00000545262.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000320443.8_Intron|CARF_ENST00000438828.2_Intron|CARF_ENST00000434998.1_Missense_Mutation_p.S188T|CARF_ENST00000428585.1_Intron|CARF_ENST00000402905.2_Intron	p.S290T			WXS	Illumina GAIIx	Phase_I					8	1149	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.869G>C	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	3.858	-0.030394	0.07543	.	.	ENSG00000138380	ENST00000444724;ENST00000434998	.	.	.	4.5	1.4	0.22301	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.22173	-1.0224	6	.	.	.	.	2.4208	0.04447	0.0974:0.1625:0.4069:0.3332	.	290	F6SXV3	.	T	290;188	.	.	S	+	2	0	ALS2CR8	203534431	0.011000	0.17503	0.000000	0.03702	0.758000	0.43043	0.942000	0.29017	0.570000	0.29347	0.563000	0.77884	AGC		0.323	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		5	11	0	0	0	0.520397	0	5	11				
HSF4	3299	broad.mit.edu	37	16	67203204	67203204	+	Missense_Mutation	SNP	G	G	A	rs375615573		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr16:67203204G>A	ENST00000521374.1	+	12	1277	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.R396Q|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.R396Q|HSF4_ENST00000264009.8_Missense_Mutation_p.R426Q			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	426					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTTCCAGAGCGGGGTGAGCCT	0.592																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1276-1278)cGg>cAg		heat shock transcription factor 4							34.0	38.0	37.0					16																	67203204		1996	4172	6168	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203204G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1277G>A	16.37:g.67203204G>A	ENSP00000430947:p.Arg426Gln		Somatic				HSF4_ENST00000584272.1_Missense_Mutation_p.R396Q|HSF4_ENST00000521374.1_Missense_Mutation_p.R426Q|HSF4_ENST00000421453.1_Missense_Mutation_p.R396Q	p.R426Q	NM_001040667.2	NP_001035757.1	WXS	Illumina GAIIx	Phase_I	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	14	2242	+		Ovarian(137;0.0563)	426					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1277G>A	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.361|3.361	-0.130579|-0.130579	0.06753|0.06753	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.73|4.73	-2.69|-2.69	0.06022|0.06022	.|.	.|0.744560	.|0.12324	.|N	.|0.479029	T|T	0.13713|0.13713	0.0332|0.0332	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28605	.|0.117;0.217	.|B;B	.|0.21546	.|0.035;0.023	T|T	0.32348|0.32348	-0.9910|-0.9910	5|9	.|0.07325	.|T	.|0.83	-23.4889|-23.4889	5.7619|5.7619	0.18205|0.18205	0.3325:0.2466:0.4208:0.0|0.3325:0.2466:0.4208:0.0	.|.	.|396;426	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|Q	102|396;426;350;426	.|.	.|ENSP00000264009:R426Q	G|R	+|+	1|2	0|0	HSF4|HSF4	65760705|65760705	0.598000|0.598000	0.26882|0.26882	0.472000|0.472000	0.27241|0.27241	0.871000|0.871000	0.50021|0.50021	0.153000|0.153000	0.16323|0.16323	-0.630000|-0.630000	0.05567|0.05567	-1.872000|-1.872000	0.00552|0.00552	GGG|CGG		0.592	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		4	43	0	0	0	0.184627	0	4	43				
LRRC49	54839	broad.mit.edu	37	15	71276512	71276512	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:71276512A>C	ENST00000260382.5	+	11	1345	c.1085A>C	c.(1084-1086)aAt>aCt	p.N362T	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.N367T|LRRC49_ENST00000560691.1_Missense_Mutation_p.N68T|LRRC49_ENST00000560158.2_Missense_Mutation_p.N50T|LRRC49_ENST00000443425.2_Missense_Mutation_p.N318T|LRRC49_ENST00000544974.2_Missense_Mutation_p.N352T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	362						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATTGCTACAAATGAAGATAGA	0.413																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1084-1086)aAt>aCt		leucine rich repeat containing 49							113.0	100.0	105.0					15																	71276512		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71276512A>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1085A>C	15.37:g.71276512A>C	ENSP00000260382:p.Asn362Thr		Somatic				LRRC49_ENST00000544974.2_Missense_Mutation_p.N352T|LRRC49_ENST00000443425.2_Missense_Mutation_p.N318T|LRRC49_ENST00000560369.1_Missense_Mutation_p.N367T|LRRC49_ENST00000560158.2_Missense_Mutation_p.N50T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.N68T	p.N362T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	WXS	Illumina GAIIx	Phase_I	Q8IUZ0	LRC49_HUMAN			11	1345	+			362					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1085A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	4.133	0.022903	0.08006	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.22539	1.95;1.95;1.95	4.31	-0.637	0.11504	.	0.616676	0.17139	N	0.185538	T	0.05090	0.0136	N	0.02539	-0.55	0.19575	N	0.999962	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001	T	0.33085	-0.9882	10	0.11794	T	0.64	-1.9139	1.1169	0.01716	0.5047:0.1564:0.1871:0.1518	.	367;334;318;362;352	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	352;362;318;334	ENSP00000439600:N352T;ENSP00000260382:N362T;ENSP00000414065:N318T	ENSP00000260382:N362T	N	+	2	0	LRRC49	69063566	0.312000	0.24545	0.128000	0.21923	0.711000	0.40976	0.575000	0.23729	-0.003000	0.14444	0.383000	0.25322	AAT		0.413	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		19	111	0	0	0	0.592651	0	19	111				
FAM212B	55924	broad.mit.edu	37	1	112269769	112269769	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:112269769C>T	ENST00000357260.5	-	2	896	c.715G>A	c.(715-717)Gag>Aag	p.E239K	FAM212B_ENST00000444059.2_Missense_Mutation_p.E224K|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	239										cervix(1)|endometrium(1)	2						GTTCGGGACTCAGGGACCATG	0.607																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(715-717)Gag>Aag		family with sequence similarity 212, member B							59.0	62.0	61.0					1																	112269769		2203	4300	6503	SO:0001583	missense	55924							g.chr1:112269769C>T	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.715G>A	1.37:g.112269769C>T	ENSP00000349805:p.Glu239Lys		Somatic				FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.E224K	p.E239K	NM_019099.4	NP_061972.1	WXS	Illumina GAIIx	Phase_I	Q9NTI7	CA183_HUMAN			2	896	-			239					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.715G>A	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683575	0.47991	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	4.96	4.01	0.46588	.	0.284910	0.35708	N	0.003031	T	0.21881	0.0527	N	0.19112	0.55	0.25783	N	0.984709	D;P	0.54964	0.969;0.939	P;P	0.55824	0.785;0.662	T	0.05835	-1.0861	9	0.72032	D	0.01	-24.1675	11.234	0.48929	0.3326:0.6674:0.0:0.0	.	224;239	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	K	239;224	.	ENSP00000349805:E239K	E	-	1	0	C1orf183	112071292	0.873000	0.30073	0.026000	0.17262	0.064000	0.16182	2.146000	0.42216	1.018000	0.39521	0.484000	0.47621	GAG		0.607	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		5	76	0	0	0	0.184627	0	5	76				
TTI2	80185	broad.mit.edu	37	8	33371089	33371089	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr8:33371089G>A	ENST00000431156.2	-	0	30				TTI2_ENST00000360742.5_5'Flank|TTI2_ENST00000520636.1_5'Flank|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2																		cacattacccgtctgacctga	0.438																																						ENST00000431156.2																			0													TELO2 interacting protein 2							143.0	128.0	132.0					8																	33371089		876	1991	2867			80185						binding	g.chr8:33371089G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.-589C>T	8.37:g.33371089G>A			Somatic				SNORD13_ENST00000459299.1_RNA		NM_001102401.2	NP_001095871.1	WXS	Illumina GAIIx	Phase_I	Q6NXR4	CH041_HUMAN			0	30	-								D3DSV7|Q96IM2|Q9H5N4	Translation_Start_Site	SNP	ENST00000431156.2	37		CCDS6090.1																																																																																				0.438	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		46	173	0	0	0	0.870114	0	46	173				
IDH2	3418	broad.mit.edu	37	15	90631628	90631628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:90631628G>A	ENST00000330062.3	-	5	754	c.641C>T	c.(640-642)gCa>gTa	p.A214V	IDH2_ENST00000539790.1_Missense_Mutation_p.A84V|IDH2_ENST00000540499.2_Missense_Mutation_p.A162V|IDH2_ENST00000559482.1_Missense_Mutation_p.A105V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	214					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CACGCCGCCTGCGGGGAAGTT	0.592			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(640-642)gCa>gTa		isocitrate dehydrogenase 2 (NADP+), mitochondrial							94.0	90.0	92.0					15																	90631628		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631628G>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.641C>T	15.37:g.90631628G>A	ENSP00000331897:p.Ala214Val		Somatic				IDH2_ENST00000539790.1_Missense_Mutation_p.A84V|IDH2_ENST00000559482.1_Missense_Mutation_p.A105V|IDH2_ENST00000540499.2_Missense_Mutation_p.A162V	p.A214V	NM_002168.2	NP_002159.2	WXS	Illumina GAIIx	Phase_I	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		5	754	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		214					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.641C>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307710	0.40795	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.69306	-0.39;-0.39;-0.39	5.8	0.112	0.14623	Isopropylmalate dehydrogenase-like domain (2);	0.350978	0.31949	N	0.006816	T	0.56790	0.2009	L	0.46819	1.47	0.09310	N	0.999996	B;B	0.19817	0.039;0.009	B;B	0.11329	0.005;0.006	T	0.55547	-0.8124	10	0.87932	D	0	.	12.5461	0.56201	0.0:0.4737:0.4047:0.1216	.	214;214	Q53GL5;P48735	.;IDHP_HUMAN	V	214;84;162	ENSP00000331897:A214V;ENSP00000438457:A84V;ENSP00000446147:A162V	ENSP00000331897:A214V	A	-	2	0	IDH2	88432632	0.062000	0.20869	0.001000	0.08648	0.651000	0.38670	0.749000	0.26320	0.048000	0.15891	0.462000	0.41574	GCA		0.592	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			15	153	0	0	0	0.557998	0	15	153				
DCAF11	80344	broad.mit.edu	37	14	24590630	24590630	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:24590630G>A	ENST00000446197.3	+	13	2030	c.1303G>A	c.(1303-1305)Gga>Aga	p.G435R	DCAF11_ENST00000559115.1_Missense_Mutation_p.G435R|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R24Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.G409R|DCAF11_ENST00000396936.1_Missense_Mutation_p.G335R	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	435					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.G435R(1)									CCGGGGCCACGGAGTGCTGCA	0.577																																						ENST00000446197.3																			1	Substitution - Missense(1)	p.G435R(1)	endometrium(1)								c.(1303-1305)Gga>Aga		DDB1 and CUL4 associated factor 11							96.0	85.0	89.0					14																	24590630		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24590630G>A	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1303G>A	14.37:g.24590630G>A	ENSP00000415556:p.Gly435Arg		Somatic				DCAF11_ENST00000559115.1_Missense_Mutation_p.G435R|DCAF11_ENST00000396936.1_Missense_Mutation_p.G335R|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R24Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.G409R	p.G435R	NM_025230.4	NP_079506.3	WXS	Illumina GAIIx	Phase_I	Q8TEB1	DCA11_HUMAN			13	2030	+			435					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.1303G>A	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642239	0.67244	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01295	5.04;5.04	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	N	0.14661	0.345	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.678;0.474;1.0	D;D;B;B;D	0.70016	0.944;0.967;0.093;0.026;0.95	T	0.72593	-0.4246	10	0.27785	T	0.31	-9.9292	17.2626	0.87075	0.0:0.0:1.0:0.0	.	358;409;335;435;435	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	R	435;409;335;409	ENSP00000380142:G335R;ENSP00000380146:G409R	ENSP00000323680:G435R	G	+	1	0	DCAF11	23660470	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	8.417000	0.90247	2.941000	0.99782	0.655000	0.94253	GGA		0.577	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			21	104	0	0	0	0.639603	0	21	104				
NAGLU	4669	broad.mit.edu	37	17	40690727	40690727	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:40690727C>T	ENST00000225927.2	+	4	819	c.718C>T	c.(718-720)Cca>Tca	p.P240S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	240					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGGCATGACCCCAGTGCTGCC	0.597																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(718-720)Cca>Tca		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						68.0	54.0	59.0					17																	40690727		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690727C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.718C>T	17.37:g.40690727C>T	ENSP00000225927:p.Pro240Ser		Somatic				RP11-400F19.8_ENST00000585572.1_RNA	p.P240S	NM_000263.3	NP_000254.2	WXS	Illumina GAIIx	Phase_I	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	4	819	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	240						Missense_Mutation	SNP	ENST00000225927.2	37	c.718C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057000	0.55325	.	.	ENSG00000108784	ENST00000225927	D	0.98207	-4.79	5.27	1.93	0.25924	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.179946	0.49916	D	0.000135	D	0.98118	0.9379	M	0.87180	2.865	0.28629	N	0.90777	D	0.55605	0.972	P	0.58172	0.834	D	0.94641	0.7830	10	0.59425	D	0.04	-7.6993	3.1192	0.06385	0.2522:0.3927:0.27:0.085	.	240	P54802	ANAG_HUMAN	S	240	ENSP00000225927:P240S	ENSP00000225927:P240S	P	+	1	0	NAGLU	37944253	0.987000	0.35691	0.444000	0.26895	0.524000	0.34500	2.868000	0.48436	0.576000	0.29452	0.555000	0.69702	CCA		0.597	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		19	73	0	0	0	0.592651	0	19	73				
GPRC5D	55507	broad.mit.edu	37	12	13103070	13103070	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:13103070C>T	ENST00000228887.1	-	1	248	c.249G>A	c.(247-249)gaG>gaA	p.E83E	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.E83E|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTTGATTGAGCTCGATGATGA	0.527																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(247-249)gaG>gaA		G protein-coupled receptor, family C, group 5, member D							83.0	77.0	79.0					12																	13103070		2203	4300	6503	SO:0001819	synonymous_variant	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13103070C>T	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.249G>A	12.37:g.13103070C>T			Somatic				RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.E83E|RP11-392P7.6_ENST00000545914.1_RNA	p.E83E	NM_018654.1	NP_061124.1	WXS	Illumina GAIIx	Phase_I	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	248	-		Prostate(47;0.183)	83					Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	c.249G>A	CCDS8658.1																																																																																				0.527	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			3	76	0	0	0	0.115264	0	3	76				
CREB5	9586	broad.mit.edu	37	7	28848894	28848894	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:28848894G>A	ENST00000357727.2	+	9	1507	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CREB5_ENST00000409603.1_Missense_Mutation_p.D340N|CREB5_ENST00000396299.2_Missense_Mutation_p.D340N|CREB5_ENST00000396298.2_Missense_Mutation_p.D234N|CREB5_ENST00000396300.2_Missense_Mutation_p.D366N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	373					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGTAGACGAGGATCCGGACGA	0.607																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(1117-1119)Gat>Aat		cAMP responsive element binding protein 5							58.0	61.0	60.0					7																	28848894		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848894G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1117G>A	7.37:g.28848894G>A	ENSP00000350359:p.Asp373Asn		Somatic				CREB5_ENST00000396300.2_Missense_Mutation_p.D366N|CREB5_ENST00000409603.1_Missense_Mutation_p.D340N|CREB5_ENST00000396298.2_Missense_Mutation_p.D234N|CREB5_ENST00000396299.2_Missense_Mutation_p.D340N	p.D373N	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	Q02930	CREB5_HUMAN			9	1507	+			373					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1117G>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514386	0.96402	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.70282	-0.46;-0.47;-0.46;-0.46;-0.46	5.99	5.99	0.97316	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	M	0.83483	2.645	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.87043	0.2142	10	0.87932	D	0	-15.015	20.4777	0.99188	0.0:0.0:1.0:0.0	.	234;373	B4DU13;Q02930	.;CREB5_HUMAN	N	340;373;366;340;199;234	ENSP00000379593:D340N;ENSP00000350359:D373N;ENSP00000379594:D366N;ENSP00000387197:D340N;ENSP00000379592:D234N	ENSP00000350359:D373N	D	+	1	0	CREB5	28815419	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAT		0.607	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		23	57	0	0	0	0.624587	0	23	57				
OCEL1	79629	broad.mit.edu	37	19	17337970	17337970	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:17337970G>A	ENST00000215061.4	+	3	458	c.414G>A	c.(412-414)ggG>ggA	p.G138G	OCEL1_ENST00000597836.1_Silent_p.G82G|OCEL1_ENST00000601529.1_Silent_p.G138G|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	138										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TCCCTAAGGGGCATAAGCCTA	0.587																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(412-414)ggG>ggA		occludin/ELL domain containing 1							61.0	69.0	66.0					19																	17337970		2203	4299	6502	SO:0001819	synonymous_variant	79629							g.chr19:17337970G>A	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.414G>A	19.37:g.17337970G>A			Somatic				OCEL1_ENST00000597836.1_Silent_p.G82G|OCEL1_ENST00000601529.1_Silent_p.G138G|OCEL1_ENST00000601576.1_3'UTR	p.G138G	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			3	458	+			138						Silent	SNP	ENST00000215061.4	37	c.414G>A	CCDS12351.1																																																																																				0.587	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		4	116	0	0	0	0.184627	0	4	116				
IL17RE	132014	broad.mit.edu	37	3	9956185	9956185	+	Intron	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:9956185A>G	ENST00000383814.3	+	14	1401				IL17RC_ENST00000383812.4_5'Flank|IL17RE_ENST00000454190.2_Silent_p.G441G|IL17RC_ENST00000455057.1_5'Flank|IL17RC_ENST00000413608.1_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000421412.1_Intron|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000295981.3_5'Flank|IL17RE_ENST00000295980.3_Intron	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E						inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCTCCCCGGGAGGAGAAGATG	0.617																																						ENST00000454190.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(1321-1323)ggA>ggG		interleukin 17 receptor E							72.0	75.0	74.0					3																	9956185		2203	4300	6503	SO:0001627	intron_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956185A>G	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1297-47A>G	3.37:g.9956185A>G			Somatic				IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000421412.1_Intron	p.G441G	NM_001193380.1	NP_001180309.1	WXS	Illumina GAIIx	Phase_I	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	14	1408	+			0					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1323A>G	CCDS2589.1																																																																																				0.617	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		36	162	0	0	0	0.804634	0	36	162				
CELF4	56853	broad.mit.edu	37	18	34846536	34846536	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:34846536G>T	ENST00000591282.1	-	9	1124	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	CELF4_ENST00000361795.5_Silent_p.P373P|CELF4_ENST00000420428.2_Silent_p.P375P|CELF4_ENST00000591287.1_Silent_p.P374P|CELF4_ENST00000588597.1_Silent_p.P364P|CELF4_ENST00000603232.1_Silent_p.P374P|CELF4_ENST00000601019.1_Silent_p.P373P|CELF4_ENST00000334919.5_Silent_p.P365P|CELF4_ENST00000412753.1_Silent_p.P374P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	375					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCTGCAGGGGGTCCGCGG	0.642																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1123-1125)ccC>ccA		CUGBP, Elav-like family member 4							48.0	41.0	43.0					18																	34846536		2202	4297	6499	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34846536G>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1125C>A	18.37:g.34846536G>T			Somatic				CELF4_ENST00000361795.5_Silent_p.P373P|CELF4_ENST00000588597.1_Silent_p.P364P|CELF4_ENST00000334919.5_Silent_p.P365P|CELF4_ENST00000412753.1_Silent_p.P374P|CELF4_ENST00000601019.1_Silent_p.P373P|CELF4_ENST00000591282.1_Silent_p.P375P|CELF4_ENST00000603232.1_Silent_p.P374P|CELF4_ENST00000591287.1_Silent_p.P374P	p.P375P	NM_020180.3	NP_064565.1	WXS	Illumina GAIIx	Phase_I	Q9BZC1	CELF4_HUMAN			9	1520	-			375					Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.1125C>A	CCDS32818.1																																																																																				0.642	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		3	12	1	0	0.115264	0.115264	0.128824	3	12				
EML5	161436	broad.mit.edu	37	14	89153576	89153576	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:89153576C>T	ENST00000380664.5	-	19	2837	c.2838G>A	c.(2836-2838)ttG>ttA	p.L946L	EML5_ENST00000554922.1_Silent_p.L946L|EML5_ENST00000352093.5_Silent_p.L908L			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	946						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCTGGGGCCAATGCAGCTC	0.393																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2836-2838)ttG>ttA		echinoderm microtubule associated protein like 5							55.0	48.0	50.0					14																	89153576		1817	4077	5894	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89153576C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2838G>A	14.37:g.89153576C>T			Somatic				EML5_ENST00000380664.5_Silent_p.L946L|EML5_ENST00000352093.5_Silent_p.L908L	p.L946L	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	Q05BV3	EMAL5_HUMAN			19	3086	-			946					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2838G>A	CCDS45148.1																																																																																				0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			8	32	0	0	0	0.307466	0	8	32				
PDGFD	80310	broad.mit.edu	37	11	104034545	104034545	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr11:104034545G>T	ENST00000393158.2	-	1	290	c.111C>A	c.(109-111)aaC>aaA	p.N37K	PDGFD_ENST00000302251.5_Missense_Mutation_p.N37K			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	37					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTCGCCTGAGGTTGGCGTTGC	0.403											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(109-111)aaC>aaA		platelet derived growth factor D							65.0	65.0	65.0					11																	104034545		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034545G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.111C>A	11.37:g.104034545G>T	ENSP00000376865:p.Asn37Lys		Somatic	OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Missense_Mutation_p.N37K	p.N37K	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	WXS	Illumina GAIIx	Phase_I	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	562	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	37					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.111C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730254	0.48939	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.25085	1.83;1.82	4.74	2.8	0.32819	.	0.175668	0.38111	N	0.001813	T	0.18341	0.0440	L	0.29908	0.895	0.35565	D	0.805013	B;B	0.25904	0.084;0.137	B;B	0.29942	0.051;0.109	T	0.13045	-1.0524	10	0.62326	D	0.03	-17.741	7.3684	0.26787	0.2055:0.0:0.7945:0.0	.	37;37	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	K	37	ENSP00000376865:N37K;ENSP00000302193:N37K	ENSP00000302193:N37K	N	-	3	2	PDGFD	103539755	0.999000	0.42202	1.000000	0.80357	0.527000	0.34593	0.248000	0.18198	0.542000	0.28846	0.650000	0.86243	AAC		0.403	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		26	104	1	0	1.7881e-09	0.729181	2.21569e-09	26	104				
SLC13A4	26266	broad.mit.edu	37	7	135390994	135390994	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:135390994G>A	ENST00000354042.4	-	4	1109	c.420C>T	c.(418-420)aaC>aaT	p.N140N	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	140					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGGTGGAGGTGTTGGACAGCC	0.627																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(418-420)aaC>aaT		solute carrier family 13 (sodium/sulfate symporter), member 4							127.0	98.0	108.0					7																	135390994		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135390994G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.420C>T	7.37:g.135390994G>A			Somatic					p.N140N	NM_012450.2	NP_036582.2	WXS	Illumina GAIIx	Phase_I	Q9UKG4	S13A4_HUMAN			4	1109	-			140					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.420C>T	CCDS5840.1																																																																																				0.627	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		10	40	0	0	0	0.435327	0	10	40				
CLSTN1	22883	broad.mit.edu	37	1	9804590	9804590	+	Missense_Mutation	SNP	T	T	C	rs375488055		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:9804590T>C	ENST00000377298.4	-	8	1889	c.1097A>G	c.(1096-1098)aAc>aGc	p.N366S	CLSTN1_ENST00000361311.4_Missense_Mutation_p.N356S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N366S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	366					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGTGCCGTTGAACTCAAA	0.632																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1096-1098)aAc>aGc		calsyntenin 1		T	SER/ASN,SER/ASN	0,4406		0,0,2203	106.0	75.0	85.0		1097,1067	5.8	1.0	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	366/982,356/972	9804590	1,13005	2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804590T>C	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1097A>G	1.37:g.9804590T>C	ENSP00000366513:p.Asn366Ser		Somatic				CLSTN1_ENST00000361311.4_Missense_Mutation_p.N356S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N366S	p.N366S	NM_001009566.1	NP_001009566.1	WXS	Illumina GAIIx	Phase_I	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	8	1889	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	366					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1097A>G	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.981460	0.93044	0.0	1.16E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	D	0.84694	0.0724	10	0.72032	D	0.01	-40.8357	16.1668	0.81768	0.0:0.0:0.0:1.0	.	366;356;366	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	366;356;186;366;366	ENSP00000366513:N366S;ENSP00000354997:N356S;ENSP00000401934:N186S;ENSP00000366502:N366S	ENSP00000354997:N356S	N	-	2	0	CLSTN1	9727177	1.000000	0.71417	0.958000	0.39756	0.908000	0.53690	7.977000	0.88081	2.210000	0.71456	0.533000	0.62120	AAC		0.632	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			11	43	0	0	0	0.435327	0	11	43				
GRM8	2918	broad.mit.edu	37	7	126544081	126544081	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:126544081T>A	ENST00000339582.2	-	5	1771	c.963A>T	c.(961-963)caA>caT	p.Q321H	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.Q321H|GRM8_ENST00000444921.2_Missense_Mutation_p.Q321H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q321H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	321					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CAATCTCCTCTTGCTGATAGA	0.423										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(961-963)caA>caT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						70.0	75.0	74.0					7																	126544081		2203	4296	6499	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544081T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.963A>T	7.37:g.126544081T>A	ENSP00000344173:p.Gln321His	HNSCC(24;0.065)	Somatic				GRM8_ENST00000405249.1_Missense_Mutation_p.Q321H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Q321H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q321H	p.Q321H			WXS	Illumina GAIIx	Phase_I	O00222	GRM8_HUMAN			5	1771	-		Prostate(267;0.186)	321					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.963A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	8.441	0.850788	0.17034	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.03	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.065700	0.64402	D	0.000008	T	0.76807	0.4039	L	0.29908	0.895	0.48901	D	0.999724	B;D;B	0.60160	0.022;0.987;0.131	B;P;B	0.55303	0.028;0.773;0.145	T	0.69877	-0.5026	10	0.13853	T	0.58	.	6.8108	0.23802	0.0:0.6348:0.1501:0.2151	.	321;321;321	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	321	ENSP00000344173:Q321H;ENSP00000409790:Q321H;ENSP00000351142:Q321H;ENSP00000385731:Q321H	ENSP00000344173:Q321H	Q	-	3	2	GRM8	126331317	0.900000	0.30661	1.000000	0.80357	0.991000	0.79684	-0.007000	0.12810	0.519000	0.28406	-0.450000	0.05554	CAA		0.423	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			46	166	0	0	0	0.870114	0	46	166				
CPSF3	51692	broad.mit.edu	37	2	9572771	9572771	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:9572771A>T	ENST00000238112.3	+	5	679	c.473A>T	c.(472-474)cAc>cTc	p.H158L	CPSF3_ENST00000460593.1_Missense_Mutation_p.H121L	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	158					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATGCAGGTCACGTCCTAGGA	0.463																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(361-363)cAc>cTc		cleavage and polyadenylation specific factor 3, 73kDa							90.0	83.0	85.0					2																	9572771		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9572771A>T	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.473A>T	2.37:g.9572771A>T	ENSP00000238112:p.His158Leu		Somatic				CPSF3_ENST00000238112.3_Missense_Mutation_p.H158L	p.H121L			WXS	Illumina GAIIx	Phase_I	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	1500	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	158					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.362A>T	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835217	0.91117	.	.	ENSG00000119203	ENST00000238112;ENST00000475482;ENST00000427001;ENST00000460593	T;T;T	0.66460	-0.21;-0.21;-0.21	5.61	5.61	0.85477	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94018	0.7290	10	0.87932	D	0	-30.2345	16.1025	0.81194	1.0:0.0:0.0:0.0	.	158;158	E7ER23;Q9UKF6	.;CPSF3_HUMAN	L	158;121;158;121	ENSP00000238112:H158L;ENSP00000419744:H121L;ENSP00000418957:H121L	ENSP00000238112:H158L	H	+	2	0	CPSF3	9490222	1.000000	0.71417	0.992000	0.48379	0.775000	0.43874	9.255000	0.95524	2.254000	0.74563	0.533000	0.62120	CAC		0.463	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		3	68	0	0	0	0.115264	0	3	68				
AKAP6	9472	broad.mit.edu	37	14	33015692	33015692	+	Silent	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:33015692A>T	ENST00000280979.4	+	4	2003	c.1833A>T	c.(1831-1833)ccA>ccT	p.P611P	AKAP6_ENST00000557354.1_Silent_p.P611P|AKAP6_ENST00000557272.1_Silent_p.P611P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	611					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTCCTCTCCAAGTCACGTCA	0.478																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(1831-1833)ccA>ccT		A kinase (PRKA) anchor protein 6							80.0	82.0	82.0					14																	33015692		2202	4300	6502	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015692A>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1833A>T	14.37:g.33015692A>T			Somatic				AKAP6_ENST00000557354.1_Silent_p.P611P|AKAP6_ENST00000557272.1_Silent_p.P611P	p.P611P	NM_004274.4	NP_004265.3	WXS	Illumina GAIIx	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	2003	+	Breast(36;0.0388)|Prostate(35;0.15)		611					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.1833A>T	CCDS9644.1																																																																																				0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		19	89	0	0	0	0.539581	0	19	89				
BMP2	650	broad.mit.edu	37	20	6759595	6759595	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr20:6759595C>G	ENST00000378827.4	+	3	2269	c.1050C>G	c.(1048-1050)aaC>aaG	p.N350K		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	350					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CGTTGGTCAACTCTGTTAACT	0.468																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(1048-1050)aaC>aaG		bone morphogenetic protein 2	Simvastatin(DB00641)						129.0	101.0	111.0					20																	6759595		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759595C>G		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.1050C>G	20.37:g.6759595C>G	ENSP00000368104:p.Asn350Lys		Somatic					p.N350K	NM_001200.2	NP_001191.1	WXS	Illumina GAIIx	Phase_I	P12643	BMP2_HUMAN			3	2269	+			350						Missense_Mutation	SNP	ENST00000378827.4	37	c.1050C>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513333	0.44660	.	.	ENSG00000125845	ENST00000378827	D	0.83419	-1.72	5.45	3.13	0.36017	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85463	0.1168	10	0.87932	D	0	.	5.9417	0.19196	0.0:0.2554:0.0:0.7446	.	350	P12643	BMP2_HUMAN	K	350	ENSP00000368104:N350K	ENSP00000368104:N350K	N	+	3	2	BMP2	6707595	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	2.606000	0.46291	0.517000	0.28361	0.650000	0.86243	AAC		0.468	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			3	126	0	0	0	0.115264	0	3	126				
EFNB2	1948	broad.mit.edu	37	13	107164902	107164902	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr13:107164902C>T	ENST00000245323.4	-	2	530	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	127	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTTGTTCTTCTGAAATTCTA	0.303																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(379-381)caG>caA		ephrin-B2							75.0	74.0	74.0					13																	107164902		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107164902C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.381G>A	13.37:g.107164902C>T			Somatic					p.Q127Q	NM_004093.3	NP_004084.1	WXS	Illumina GAIIx	Phase_I	P52799	EFNB2_HUMAN			2	530	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		127					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.381G>A	CCDS9507.1																																																																																				0.303	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		35	104	0	0	0	0.779181	0	35	104				
SNURF	8926	broad.mit.edu	37	15	25232121	25232121	+	Intron	SNP	C	C	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:25232121C>G	ENST00000551312.2	+	6	1184				SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA|SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551631.2_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		ACTTTCCATTCCTGCAAAGGG	0.438																																						ENST00000551631.2																			0																				134.0	121.0	125.0					15																	25232121		876	1991	2867	SO:0001627	intron_variant	104472715							g.chr15:25232121C>G		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+4537C>G	15.37:g.25232121C>G			Somatic				SNHG14_ENST00000551361.1_RNA|SNORD108_ENST00000459332.1_RNA		NR_001293.1		WXS	Illumina GAIIx	Phase_I					0	887	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.438	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		17	111	0	0	0	0.539581	0	17	111				
AKAP12	9590	broad.mit.edu	37	6	151672019	151672019	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:151672019A>G	ENST00000253332.1	+	3	2682	c.2493A>G	c.(2491-2493)gcA>gcG	p.A831A	AKAP12_ENST00000402676.2_Silent_p.A831A|AKAP12_ENST00000359755.5_Silent_p.A726A|AKAP12_ENST00000354675.6_Silent_p.A733A			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGAAGACGCAGGGCCAACAG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2491-2493)gcA>gcG		A kinase (PRKA) anchor protein 12							87.0	99.0	95.0					6																	151672019		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672019A>G	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2493A>G	6.37:g.151672019A>G			Somatic				AKAP12_ENST00000253332.1_Silent_p.A831A|AKAP12_ENST00000359755.5_Silent_p.A726A|AKAP12_ENST00000354675.6_Silent_p.A733A	p.A831A	NM_005100.3	NP_005091.2	WXS	Illumina GAIIx	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2733	+		Ovarian(120;0.125)	831					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2493A>G	CCDS5229.1																																																																																				0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	137	0	0	0	0.115264	0	3	137				
CYP4B1	1580	broad.mit.edu	37	1	47278213	47278213	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:47278213G>A	ENST00000271153.4	+	4	449	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R123H|CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R138H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	138					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTGCAGCACCGCAAGCTGCTC	0.602																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(412-414)cGc>cAc		cytochrome P450, family 4, subfamily B, polypeptide 1							133.0	102.0	113.0					1																	47278213		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278213G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.413G>A	1.37:g.47278213G>A	ENSP00000271153:p.Arg138His		Somatic				CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R123H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R138H	p.R138H			WXS	Illumina GAIIx	Phase_I	P13584	CP4B1_HUMAN			4	449	+	Acute lymphoblastic leukemia(166;0.155)		138					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.413G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746424	0.89663	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	D;D;D	0.92647	-3.08;-3.08;-2.01	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.997	D	0.98979	1.0804	10	0.87932	D	0	.	16.6108	0.84882	0.0:0.0:0.8687:0.1312	.	123;138;138	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	H	138;138;123	ENSP00000360991:R138H;ENSP00000271153:R138H;ENSP00000360987:R123H	ENSP00000271153:R138H	R	+	2	0	CYP4B1	47050800	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	7.592000	0.82676	1.503000	0.48686	-0.230000	0.12252	CGC		0.602	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		3	79	0	0	0	0.115264	0	3	79				
CCDC129	223075	broad.mit.edu	37	7	31617737	31617737	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:31617737T>C	ENST00000407970.3	+	8	897	c.859T>C	c.(859-861)Ttt>Ctt	p.F287L	CCDC129_ENST00000451887.2_Missense_Mutation_p.F313L|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.F195L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	287										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGTTCCCTTTACAAAACC	0.448																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(583-585)Ttt>Ctt		coiled-coil domain containing 129							55.0	57.0	57.0					7																	31617737		2200	4300	6500	SO:0001583	missense	223075							g.chr7:31617737T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.859T>C	7.37:g.31617737T>C	ENSP00000384416:p.Phe287Leu		Somatic				CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.F287L|CCDC129_ENST00000451887.2_Missense_Mutation_p.F313L	p.F195L			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			6	767	+			287					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.583T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	5.207	0.223629	0.09863	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.16196	2.62;2.62;2.36	5.08	-0.168	0.13343	.	.	.	.	.	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.15870	0.014;0.014;0.014	T	0.36648	-0.9739	8	.	.	.	-0.0012	4.4756	0.11733	0.0:0.2888:0.2319:0.4793	.	313;297;287	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	L	287;313;297;195	ENSP00000384416:F287L;ENSP00000395835:F313L;ENSP00000387214:F195L	.	F	+	1	0	CCDC129	31584262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.239000	0.08965	0.156000	0.19299	-0.290000	0.09829	TTT		0.448	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	28	0	0	0	0.335167	0	10	28				
CTAGE5	4253	broad.mit.edu	37	14	39819379	39819379	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:39819379T>A	ENST00000280083.3	+	24	2640	c.2326T>A	c.(2326-2328)Tct>Act	p.S776T	CTAGE5_ENST00000396165.4_Missense_Mutation_p.S747T|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000396158.2_Missense_Mutation_p.S781T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S1311T|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S733T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S696T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S764T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S701T			O15320	CTGE5_HUMAN	CTAGE family, member 5	776	Pro-rich.			S -> F (in Ref. 2; AAN77610). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACCCCCACATTCTGAAGGTAG	0.463																																						ENST00000553728.1																			0											c.(3931-3933)Tct>Act									77.0	80.0	79.0					14																	39819379		2203	4300	6503	SO:0001583	missense	4253							g.chr14:39819379T>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2326T>A	14.37:g.39819379T>A	ENSP00000280083:p.Ser776Thr		Somatic				CTAGE5_ENST00000396158.2_Missense_Mutation_p.S781T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S701T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S776T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S696T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S747T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S733T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S764T	p.S1311T			WXS	Illumina GAIIx	Phase_I					28	4144	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3931T>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047758	0.36085	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T	0.08634	3.24;3.08;3.08;3.08;3.37;3.37;3.07;3.57;3.08	5.09	-0.544	0.11847	.	1.196880	0.06497	N	0.735739	T	0.11836	0.0288	L	0.54323	1.7	0.20403	N	0.999909	B;B;B;B;B	0.27679	0.185;0.152;0.185;0.152;0.082	B;B;B;B;B	0.35312	0.2;0.153;0.2;0.099;0.132	T	0.46331	-0.9199	9	.	.	.	.	9.8693	0.41164	0.0:0.6616:0.0:0.3384	.	781;733;776;704;764	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	T	1311;764;696;644;747;781;776;701;733;747	ENSP00000452252:S1311T;ENSP00000343897:S764T;ENSP00000450869:S696T;ENSP00000379468:S747T;ENSP00000379462:S781T;ENSP00000280083:S776T;ENSP00000452562:S701T;ENSP00000343912:S733T;ENSP00000450449:S747T	.	S	+	1	0	CTAGE5;RP11-407N17.3	38889130	0.832000	0.29368	0.163000	0.22734	0.760000	0.43138	0.690000	0.25451	-0.301000	0.08882	0.460000	0.39030	TCT		0.463	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		40	170	0	0	0	0.827153	0	40	170				
OPTC	26254	broad.mit.edu	37	1	203468977	203468977	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:203468977A>G	ENST00000367222.2	+	5	846	c.730A>G	c.(730-732)Agg>Ggg	p.R244G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	244					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGCCTTCAGGGTGAGTCA	0.592																																						ENST00000367222.2																			0				breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20						c.(730-732)Agg>Ggg		opticin							81.0	84.0	83.0					1																	203468977		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203468977A>G	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.730A>G	1.37:g.203468977A>G	ENSP00000356191:p.Arg244Gly		Somatic					p.R244G	NM_014359.3	NP_055174.1	WXS	Illumina GAIIx	Phase_I	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	846	+			244					Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.730A>G	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	a	13.13	2.145522	0.37825	.	.	ENSG00000188770	ENST00000367222	T	0.02121	4.44	4.57	-9.15	0.00698	.	1.446220	0.04361	N	0.357517	T	0.01124	0.0037	N	0.05510	-0.035	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.47774	-0.9091	10	0.56958	D	0.05	-6.0E-4	1.7781	0.03025	0.1887:0.2958:0.3206:0.1949	.	244	Q9UBM4	OPT_HUMAN	G	244	ENSP00000356191:R244G	ENSP00000356191:R244G	R	+	1	2	OPTC	201735600	0.386000	0.25180	0.001000	0.08648	0.095000	0.18619	0.484000	0.22308	-2.048000	0.00907	-0.450000	0.05554	AGG		0.592	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		3	97	0	0	0	0.115264	0	3	97				
GTF2A1L	11036	broad.mit.edu	37	2	48897082	48897082	+	Silent	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:48897082T>C	ENST00000403751.3	+	7	1237	c.1200T>C	c.(1198-1200)agT>agC	p.S400S	GTF2A1L_ENST00000430487.2_Silent_p.S366S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S1104S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S1104S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S1104S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S1057S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S1104S|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	400					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACAAACAGTAGTGATAATG	0.363																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(3310-3312)agT>agC									80.0	84.0	82.0					2																	48897082		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48897082T>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1200T>C	2.37:g.48897082T>C			Somatic				STON1-GTF2A1L_ENST00000309827.2_Silent_p.S1104S|GTF2A1L_ENST00000403751.3_Silent_p.S400S|GTF2A1L_ENST00000430487.2_Silent_p.S366S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S1104S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S1104S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S1057S	p.S1104S	NM_172311.2	NP_758515.1	WXS	Illumina GAIIx	Phase_I	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	3426	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1057					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.3312T>C	CCDS46281.1																																																																																				0.363	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		30	134	0	0	0	0.750413	0	30	134				
CCDC74A	90557	broad.mit.edu	37	2	132288265	132288265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:132288265G>T	ENST00000295171.6	+	3	547	c.409G>T	c.(409-411)Gag>Tag	p.E137*	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Nonsense_Mutation_p.E239*	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	137										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGCTGAAGGAGGGCTCCTC	0.662																																						ENST00000467992.2																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(715-717)Gag>Tag		coiled-coil domain containing 74A							54.0	56.0	55.0					2																	132288265		2201	4298	6499	SO:0001587	stop_gained	90557							g.chr2:132288265G>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.409G>T	2.37:g.132288265G>T	ENSP00000295171:p.Glu137*		Somatic				CCDC74A_ENST00000295171.6_Nonsense_Mutation_p.E137*|CCDC74A_ENST00000409856.3_Intron	p.E239*			WXS	Illumina GAIIx	Phase_I	Q96AQ1	CC74A_HUMAN			1	1029	+			137					Q6P4I5	Nonsense_Mutation	SNP	ENST00000295171.6	37	c.715G>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	14.87	2.663493	0.47572	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	.	.	.	1.67	-2.01	0.07410	.	5.006060	0.01422	U	0.014418	.	.	.	.	.	.	0.58432	A	0.999991	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0555	0.14531	0.4596:0.0:0.5404:0.0	.	.	.	.	X	137;239	.	ENSP00000295171:E137X	E	+	1	0	CCDC74A	132004735	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	0.237000	0.17985	-0.539000	0.06273	0.194000	0.17425	GAG		0.662	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		6	84	1	0	1.12685e-05	0.307466	1.36661e-05	6	84				
KCNH7	90134	broad.mit.edu	37	2	163256910	163256910	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:163256910A>G	ENST00000332142.5	-	10	2295	c.2196T>C	c.(2194-2196)tgT>tgC	p.C732C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	732					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGAGATGTAGACAAATGTCTG	0.438																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2194-2196)tgT>tgC		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						120.0	122.0	121.0					2																	163256910		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256910A>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2196T>C	2.37:g.163256910A>G			Somatic					p.C732C	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2295	-			732					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.2196T>C	CCDS2219.1																																																																																				0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		51	218	0	0	0	0.870114	0	51	218				
ADAR	103	broad.mit.edu	37	1	154561068	154561068	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154561068C>A	ENST00000368474.4	-	10	3043	c.2844G>T	c.(2842-2844)aaG>aaT	p.K948N	ADAR_ENST00000368471.3_Missense_Mutation_p.K653N|ADAR_ENST00000292205.5_Missense_Mutation_p.K991N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	948	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTATTTGGAGCTTTTCTCCTC	0.433																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2842-2844)aaG>aaT		adenosine deaminase, RNA-specific							132.0	128.0	130.0					1																	154561068		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154561068C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2844G>T	1.37:g.154561068C>A	ENSP00000357459:p.Lys948Asn		Somatic				ADAR_ENST00000368471.3_Missense_Mutation_p.K653N|ADAR_ENST00000292205.5_Missense_Mutation_p.K991N	p.K948N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	10	3043	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		948			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2844G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911771	0.72983	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.19	4.28	0.50868	Adenosine deaminase/editase (3);	0.467914	0.21380	N	0.075497	D	0.93739	0.7999	M	0.64676	1.99	0.45129	D	0.998149	P;D;D	0.58268	0.946;0.974;0.982	P;P;P	0.57057	0.675;0.742;0.812	D	0.92627	0.6113	10	0.39692	T	0.17	-20.1679	11.7042	0.51587	0.0:0.8537:0.0:0.1463	.	903;922;948	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	N	991;948;653;917	ENSP00000292205:K991N;ENSP00000357459:K948N;ENSP00000357456:K653N;ENSP00000431794:K917N	ENSP00000292205:K991N	K	-	3	2	ADAR	152827692	0.955000	0.32602	1.000000	0.80357	0.993000	0.82548	0.250000	0.18235	1.420000	0.47138	0.557000	0.71058	AAG		0.433	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		5	194	1	0	0.217242	0.217242	0.233638	5	194				
KCNN3	3782	broad.mit.edu	37	1	154842012	154842012	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154842012G>A	ENST00000271915.4	-	1	744	c.429C>T	c.(427-429)tcC>tcT	p.S143S	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	148					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TTGTAGCTGTGGAACTTGGAG	0.647																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(427-429)tcC>tcT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							44.0	41.0	42.0					1																	154842012		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154842012G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.429C>T	1.37:g.154842012G>A			Somatic					p.S143S	NM_002249.5	NP_002240.3	WXS	Illumina GAIIx	Phase_I	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	744	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		148					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.429C>T	CCDS30880.1																																																																																				0.647	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	28	0	0	0	0.307466	0	5	28				
PTPRH	5794	broad.mit.edu	37	19	55716831	55716831	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:55716831C>T	ENST00000376350.3	-	4	504	c.482G>A	c.(481-483)gGc>gAc	p.G161D	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	161	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTGCTCTGCCACCATCTCC	0.577																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(481-483)gGc>gAc		protein tyrosine phosphatase, receptor type, H							141.0	124.0	130.0					19																	55716831		2203	4298	6501	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55716831C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.482G>A	19.37:g.55716831C>T	ENSP00000365528:p.Gly161Asp		Somatic				PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	p.G161D	NM_002842.3	NP_002833.3	WXS	Illumina GAIIx	Phase_I	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	4	504	-		Renal(1328;0.245)	161			Fibronectin type-III 2.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.482G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	2.192	-0.384979	0.04966	.	.	ENSG00000080031	ENST00000376350	T	0.52526	0.66	3.78	-3.5	0.04710	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.626050	0.04320	N	0.350610	T	0.21427	0.0516	N	0.14661	0.345	0.09310	N	1	B	0.22604	0.072	B	0.16289	0.015	T	0.08764	-1.0706	10	0.08837	T	0.75	.	0.6012	0.00745	0.1736:0.2867:0.171:0.3686	.	161	Q9HD43	PTPRH_HUMAN	D	161	ENSP00000365528:G161D	ENSP00000365528:G161D	G	-	2	0	PTPRH	60408643	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.461000	0.00230	-0.721000	0.04929	0.430000	0.28490	GGC		0.577	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			33	117	0	0	0	0.804634	0	33	117				
SPIC	121599	broad.mit.edu	37	12	101880233	101880233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:101880233C>A	ENST00000551346.1	+	6	590	c.431C>A	c.(430-432)tCa>tAa	p.S144*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.S144*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	144					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CAGTTTGTATCAAAAAACAAA	0.423																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(430-432)tCa>tAa		Spi-C transcription factor (Spi-1/PU.1 related)							56.0	60.0	59.0					12																	101880233		2203	4300	6503	SO:0001587	stop_gained	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880233C>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.431C>A	12.37:g.101880233C>A	ENSP00000448580:p.Ser144*		Somatic				SPIC_ENST00000299272.5_Nonsense_Mutation_p.S144*	p.S144*			WXS	Illumina GAIIx	Phase_I	Q8N5J4	SPIC_HUMAN			6	590	+			144						Nonsense_Mutation	SNP	ENST00000551346.1	37	c.431C>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553447	0.96501	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3507	17.9863	0.89157	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000299272:S144X	S	+	2	0	SPIC	100404364	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.261000	0.78400	2.323000	0.78572	0.650000	0.86243	TCA		0.423	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		4	153	1	0	0.00909568	0.150653	0.0103691	4	153				
SLC4A7	9497	broad.mit.edu	37	3	27446453	27446453	+	Splice_Site	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:27446453C>T	ENST00000295736.5	-	14	1986	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N	SLC4A7_ENST00000454389.1_Splice_Site_p.S648N|SLC4A7_ENST00000446700.1_Splice_Site_p.S631N|SLC4A7_ENST00000428386.1_Splice_Site_p.S515N|SLC4A7_ENST00000445684.1_Splice_Site_p.S635N|SLC4A7_ENST00000437179.1_Splice_Site_p.S520N|SLC4A7_ENST00000455077.1_Splice_Site_p.S520N|SLC4A7_ENST00000425128.2_Splice_Site_p.V573M|SLC4A7_ENST00000388777.4_Splice_Site_p.S189N|SLC4A7_ENST00000435667.2_Splice_Site_p.S524N|SLC4A7_ENST00000440156.1_Splice_Site_p.S635N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	639					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTCTATTGCACTCTGTTTAAG	0.348																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.e14-1		solute carrier family 4, sodium bicarbonate cotransporter, member 7							70.0	70.0	70.0					3																	27446453		2203	4300	6503	SO:0001630	splice_region_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27446453C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1915-1G>A	3.37:g.27446453C>T			Somatic				SLC4A7_ENST00000454389.1_Splice_Site_p.S648_splice|SLC4A7_ENST00000435667.2_Splice_Site_p.S524_splice|SLC4A7_ENST00000425128.2_Splice_Site_p.V573_splice|SLC4A7_ENST00000445684.1_Splice_Site_p.S635_splice|SLC4A7_ENST00000440156.1_Splice_Site_p.S635_splice|SLC4A7_ENST00000428386.1_Splice_Site_p.S515_splice|SLC4A7_ENST00000437179.1_Splice_Site_p.S520_splice|SLC4A7_ENST00000455077.1_Splice_Site_p.S520_splice|SLC4A7_ENST00000446700.1_Splice_Site_p.S631_splice|SLC4A7_ENST00000388777.4_Splice_Site_p.S189_splice	p.S639_splice	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			14	1986	-			639					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Splice_Site	SNP	ENST00000295736.5	37	c.1914_splice	CCDS33721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.772135|3.772135	0.69992|0.69992	.|.	.|.	ENSG00000033867|ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179|ENST00000425128	T;T;T;T;T;T;T;T;T;T;T;T|T	0.79749|0.59083	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3|0.29	5.63|5.63	5.63|5.63	0.86233|0.86233	Bicarbonate transporter, C-terminal (1);|.	0.098509|.	0.85682|.	D|.	0.000000|.	T|T	0.75369|0.75369	0.3840|0.3840	M|M	0.75447|0.75447	2.3|2.3	0.39208|0.39208	D|D	0.963273|0.963273	D;D;D;D;D;D;D;D;D|.	0.76494|.	0.999;0.999;0.993;0.994;0.999;0.97;0.999;0.999;0.999|.	D;D;D;D;D;D;D;D;D|.	0.81914|.	0.992;0.995;0.98;0.98;0.992;0.913;0.983;0.992;0.992|.	T|T	0.78942|0.78942	-0.2005|-0.2005	10|7	0.87932|0.87932	D|D	0|0	.|.	19.6798|19.6798	0.95958|0.95958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	635;520;631;635;648;189;515;639;520|.	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53|.	.;.;.;.;.;.;.;S4A7_HUMAN;.|.	N|M	190;639;515;648;635;520;631;520;635;524;189;535|573	ENSP00000411031:S190N;ENSP00000295736:S639N;ENSP00000416368:S515N;ENSP00000390394:S648N;ENSP00000414797:S635N;ENSP00000394252:S520N;ENSP00000406605:S631N;ENSP00000407382:S520N;ENSP00000406804:S635N;ENSP00000395336:S524N;ENSP00000373429:S189N;ENSP00000388703:S535N|ENSP00000401949:V573M	ENSP00000295736:S639N|ENSP00000401949:V573M	S|V	-|-	2|1	0|0	SLC4A7|SLC4A7	27421457|27421457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.818000|7.818000	0.86416|0.86416	2.642000|2.642000	0.89623|0.89623	0.467000|0.467000	0.42956|0.42956	AGT|GTG		0.348	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	Missense_Mutation	39	125	0	0	0	0.812448	0	39	125				
TEKT4	150483	broad.mit.edu	37	2	95539321	95539321	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:95539321A>G	ENST00000295201.4	+	2	692	c.555A>G	c.(553-555)gcA>gcG	p.A185A	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	185					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCATGCAAGCAGTGAGCCAGA	0.597																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(553-555)gcA>gcG		tektin 4							76.0	65.0	69.0					2																	95539321		2203	4300	6503	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539321A>G	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.555A>G	2.37:g.95539321A>G			Somatic				AC097374.2_ENST00000568768.1_RNA	p.A185A	NM_144705.2	NP_653306.1	WXS	Illumina GAIIx	Phase_I	Q8WW24	TEKT4_HUMAN			2	692	+			185						Silent	SNP	ENST00000295201.4	37	c.555A>G	CCDS2005.1																																																																																				0.597	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	33	0	0	0	0.278610	0	7	33				
RAP1GAP2	23108	broad.mit.edu	37	17	2901602	2901602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:2901602T>C	ENST00000254695.8	+	14	1222	c.1132T>C	c.(1132-1134)Tcc>Ccc	p.S378P	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S359P|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S378P|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S363P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	378	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATGATAGCCTCCAATTTCTT	0.493																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1132-1134)Tcc>Ccc		RAP1 GTPase activating protein 2							124.0	123.0	123.0					17																	2901602		2024	4184	6208	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2901602T>C	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1132T>C	17.37:g.2901602T>C	ENSP00000254695:p.Ser378Pro		Somatic				RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S359P|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S363P|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S378P	p.S378P	NM_015085.4	NP_055900.4	WXS	Illumina GAIIx	Phase_I	Q684P5	RPGP2_HUMAN			14	1222	+			378			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1132T>C	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775973	0.90195	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	5.66	5.66	0.87406	Rap/ran-GAP (2);	0.050796	0.85682	D	0.000000	D	0.98658	0.9550	H	0.98612	4.28	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.949;0.967	D	0.99636	1.0987	10	0.87932	D	0	-34.9259	15.0728	0.72053	0.0:0.0:0.0:1.0	.	363;378	Q684P5-2;Q684P5	.;RPGP2_HUMAN	P	378;363;359;378	ENSP00000254695:S378P;ENSP00000389824:S363P;ENSP00000439688:S359P;ENSP00000444890:S378P	ENSP00000254695:S378P	S	+	1	0	RAP1GAP2	2848352	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	8.040000	0.89188	2.158000	0.67659	0.459000	0.35465	TCC		0.493	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			3	186	0	0	0	0.115264	0	3	186				
MBOAT1	154141	broad.mit.edu	37	6	20212418	20212418	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:20212418G>T	ENST00000324607.7	-	1	212	c.48C>A	c.(46-48)ggC>ggA	p.G16G	RP11-239H6.2_ENST00000449143.2_RNA|MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Silent_p.G16G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	16					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GGTAGGTGGAGCCCGTGGTGC	0.697																																						ENST00000324607.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20						c.(46-48)ggC>ggA		membrane bound O-acyltransferase domain containing 1							64.0	60.0	61.0					6																	20212418		2203	4299	6502	SO:0001819	synonymous_variant	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20212418G>T	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.48C>A	6.37:g.20212418G>T			Somatic				MBOAT1_ENST00000536798.1_Silent_p.G16G|MBOAT1_ENST00000541730.1_5'UTR|RP11-239H6.2_ENST00000449143.2_RNA	p.G16G	NM_001080480.1	NP_001073949.1	WXS	Illumina GAIIx	Phase_I	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		1	212	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		16					A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	37	c.48C>A	CCDS34346.1																																																																																				0.697	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1			4	27	1	0	0.00909568	0.150653	0.0103691	4	27				
SRGAP3	9901	broad.mit.edu	37	3	9106174	9106174	+	Missense_Mutation	SNP	T	T	C	rs373136362		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:9106174T>C	ENST00000383836.3	-	5	1005	c.578A>G	c.(577-579)aAt>aGt	p.N193S	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.N193S	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	193	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCTGACTTATTGAACTGCTT	0.547			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(577-579)aAt>aGt		SLIT-ROBO Rho GTPase activating protein 3		T	SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	172.0	136.0	148.0		578,578	2.5	1.0	3		148	0,8600		0,0,4300	no	missense,missense	SRGAP3	NM_001033117.1,NM_014850.2	46,46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	193/1076,193/1100	9106174	1,13005	2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9106174T>C	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.578A>G	3.37:g.9106174T>C	ENSP00000373347:p.Asn193Ser		Somatic				SRGAP3_ENST00000360413.3_Missense_Mutation_p.N193S|SRGAP3_ENST00000433332.3_5'UTR	p.N193S	NM_014850.3	NP_055665.1	WXS	Illumina GAIIx	Phase_I	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	5	1005	-			193					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.578A>G	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139692	0.37728	2.27E-4	0.0	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.50001	0.76;0.76	4.94	2.55	0.30701	.	0.095441	0.64402	N	0.000001	T	0.14743	0.0356	N	0.00583	-1.355	0.38318	D	0.943457	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.04216	-1.0968	10	0.31617	T	0.26	.	7.5357	0.27708	0.0:0.2434:0.0:0.7566	.	193;62;193;193	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	S	193;193;73	ENSP00000373347:N193S;ENSP00000353587:N193S	ENSP00000353587:N193S	N	-	2	0	SRGAP3	9081174	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.793000	0.38764	0.336000	0.23639	0.338000	0.21704	AAT		0.547	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			3	176	0	0	0	0.150653	0	3	176				
KIAA1468	57614	broad.mit.edu	37	18	59895745	59895745	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:59895745A>G	ENST00000398130.2	+	8	1594	c.1362A>G	c.(1360-1362)ccA>ccG	p.P454P	KIAA1468_ENST00000256858.6_Silent_p.P454P|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	454										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGAATTCCCCAAATTCATTCC	0.373																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1360-1362)ccA>ccG		KIAA1468							70.0	66.0	68.0					18																	59895745		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59895745A>G	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1362A>G	18.37:g.59895745A>G			Somatic				KIAA1468_ENST00000398130.2_Silent_p.P454P|KIAA1468_ENST00000592479.1_3'UTR	p.P454P			WXS	Illumina GAIIx	Phase_I	Q9P260	K1468_HUMAN			8	1610	+		Colorectal(73;0.186)	454						Silent	SNP	ENST00000398130.2	37	c.1362A>G	CCDS11979.2																																																																																				0.373	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		23	93	0	0	0	0.667858	0	23	93				
PROX1-AS1	100505832	broad.mit.edu	37	1	214078310	214078311	+	RNA	INS	-	-	AGAG	rs144325996|rs377647721|rs71685766		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:214078310_214078311insAGAG	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000413560.1_RNA					PROX1 antisense RNA 1																		gaaaggtaggaagagagggaaa	0.421																																						ENST00000433082.2																			0																																																			100505832							g.chr1:214078310_214078311insAGAG	AK092251		1q32.3	2012-10-12	2012-08-15		ENSG00000230461	ENSG00000230461		"""Long non-coding RNAs"""	43656	non-coding RNA	RNA, long non-coding			"""PROX1 antisense RNA 1 (non-protein coding)"""				Standard	XR_248694		Approved				OTTHUMG00000036947		1.37:g.214078311_214078314dupAGAG			Somatic				PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000600591.1_RNA				WXS	Illumina GAIIx	Phase_I					0	195	-									RNA	INS	ENST00000433082.2	37																																																																																						0.421	PROX1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000089728.2	NR_037850		2	4						2	4	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975832	31975833	+	5'Flank	INS	-	-	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:31975832_31975833insC	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GGGGCCGGGGGCCTGCCATGAA	0.658																																						ENST00000342991.6																			0																	30,192		8,14,89						1.3	0.0			5	197,1507		26,145,681	no	intergenic				34,159,770	A1A1,A1R,RR		11.561,13.5135,11.7861				227,1699				SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975832_31975833insC																													6.37:g.31975834_31975834dupC	Exception_encountered		Somatic						NR_040090.1		WXS	Illumina GAIIx	Phase_I	Q5ST44	Q5ST44_HUMAN			0	1653	+									RNA	INS	ENST00000594256.1	37																																																																																						0.658	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	1						5	1	---	---	---	---
RP4-601P9.2	0	broad.mit.edu	37	12	115179367	115179368	+	lincRNA	DEL	AC	AC	-	rs139759014|rs370985246		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:115179367_115179368delAC	ENST00000551875.1	+	0	541																											tactaaaaatacacacacacac	0.535																																						ENST00000551875.1																			0																																																			0							g.chr12:115179367_115179368delAC																													12.37:g.115179377_115179378delAC			Somatic								WXS	Illumina GAIIx	Phase_I					0	541	+									RNA	DEL	ENST00000551875.1	37																																																																																						0.535	RP4-601P9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404943.1			3	2						3	2	---	---	---	---
AC009120.6	0	broad.mit.edu	37	16	74372178	74372178	+	RNA	DEL	C	C	-	rs66568538		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr16:74372178delC	ENST00000561921.1	-	0	0				RP11-252A24.2_ENST00000429810.2_RNA																							gtctggaactcctgacttcag	0.502																																						ENST00000429810.2																			0																																																			0							g.chr16:74372178delC																													16.37:g.74372178delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	2018	-									RNA	DEL	ENST00000561921.1	37																																																																																						0.502	AC009120.6-004	KNOWN	basic	antisense	antisense	OTTHUMT00000435713.1			3	6						3	6	---	---	---	---
