#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
DDB1	1642	broad.mit.edu	37	11	61081070	61081071	+	Frame_Shift_Ins	INS	-	-	GTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:61081070_61081071insGTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	ENST00000301764.7	-	16	2366_2367	c.1969_1970insATCAATAGCTCTCATTAAATAAGGAAAAAGAGACTCAC	c.(1969-1971)actfs	p.T657fs	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	657	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATAGATGACAGTGGGGCGGTCA	0.49								Nucleotide excision repair (NER)																														ENST00000301764.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1969-1971)actfs	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa																																				SO:0001589	frameshift_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61081070_61081071insGTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1969_1970insATCAATAGCTCTCATTAAATAAGGAAAAAGAGACTCAC	11.37:g.61081070_61081071insGTGAGTCTCTTTTTCCTTATTTAATGAGAGCTATTGAT	ENSP00000301764:p.Thr657fs	True	False		Somatic	0				DDB1_ENST00000450997.2_Intron	p.T657fs	NM_001923.4	NP_001914.3	WXS	Illumina HiSeq	Phase_I	Q16531	DDB1_HUMAN			16	2366_2367	-			657			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	ENST00000301764.7	37	c.1969_1970insATCAATAGCTCTCATTAAATAAGGAAAAAGAGACTCAC	CCDS31576.1																																																																																				0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	NM_001923		11:61081070
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
THAP11	57215	broad.mit.edu	37	16	67876803	67876805	+	In_Frame_Del	DEL	CAA	CAA	-	rs28434205	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:67876803_67876805delCAA	ENST00000303596.1	+	1	591_593	c.346_348delCAA	c.(346-348)caadel	p.Q132del	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	132	Gln-rich.			Missing (in Ref. 2; AAH12182). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		gcaacagcagcaacagcagcagc	0.685																																						ENST00000303596.1		NA																	1	Substitution - coding silent(1)	p.Q116Q(1)	lung(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(346-348)caadel		THAP domain containing 11			,	104,3572		6,92,1740					,	-2.1	0.4			22	79,7199		8,63,3568	no	intron,coding	THAP11,CENPT	NM_025082.3,NM_020457.2	,	14,155,5308	A1A1,A1R,RR		1.0855,2.8292,1.6706	,	,		183,10771				SO:0001651	inframe_deletion	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876803_67876805delCAA	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.346_348delCAA	16.37:g.67876803_67876805delCAA	ENSP00000304689:p.Gln132del	True	False		Somatic	1				CENPT_ENST00000562787.1_Intron	p.Q132del	NM_020457.2	NP_065190.2	WXS	Illumina HiSeq	Phase_I	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	591_593	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	132	Missing (in Ref. 2; AAH12182).		Gln-rich.		A4UCT5|A8K002|O94795	In_Frame_Del	DEL	ENST00000303596.1	37	c.346_348delCAA	CCDS10847.1																																																																																				0.685	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	0	NM_020457		16:67876803
FAM9A	171482	broad.mit.edu	37	X	8763328	8763348	+	In_Frame_Del	DEL	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	-	rs199608514|rs201732308		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	-	-	CTGCTGCTGCTGCGGCTTCTG	CTGCTGCTGCTGCGGCTTCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:8763328_8763348delCTGCTGCTGCTGCGGCTTCTG	ENST00000543214.1	-	7	737_757	c.602_622delCAGAAGCCGCAGCAGCAGCAG	c.(601-624)gcagaagccgcagcagcagcagaa>gaa	p.AEAAAAA201del	FAM9A_ENST00000381003.3_In_Frame_Del_p.AEAAAAA201del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	201	Glu-rich.|Poly-Ala.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				gctgcggcttctgctgctgctgcggcttctgctgctgctgc	0.493																																						ENST00000543214.1		NA																	0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(601-624)gcagaagccgcagcagcagcagaa>gaa		family with sequence similarity 9, member A			,	271,23,2966		68,0,108,27,3,10,7,1222,404					,		0.2			17	349,38,5348		49,1,130,120,9,10,9,1942,1324	no	codingComplex,codingComplex	FAM9A	NM_174951.3,NM_001171186.1	,	117,1,238,147,12,20,16,3164,1728	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		6.748,9.0184,7.5709	,	,		620,61,8314				SO:0001651	inframe_deletion	171482					nucleolus		g.chrX:8763328_8763348delCTGCTGCTGCTGCGGCTTCTG		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.602_622delCAGAAGCCGCAGCAGCAGCAG	X.37:g.8763328_8763348delCTGCTGCTGCTGCGGCTTCTG	ENSP00000440163:p.Ala201_Ala207del	True	False		Somatic	1				FAM9A_ENST00000381003.3_In_Frame_Del_p.AEAAAAA201del	p.AEAAAAA201del	NM_001171186.1	NP_001164657.1	WXS	Illumina HiSeq	Phase_I	Q8IZU1	FAM9A_HUMAN			7	737_757	-		Hepatocellular(5;0.219)	201			Glu-rich.|Poly-Ala.		B7ZLH5|Q2M2D1	In_Frame_Del	DEL	ENST00000543214.1	37	c.602_622delCAGAAGCCGCAGCAGCAGCAG	CCDS14131.1																																																																																				0.493	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	0	NM_174951		X:8763328
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
RAPGEF6	51735	broad.mit.edu	37	5	130883871	130883872	+	Frame_Shift_Ins	INS	-	-	AATTTACA			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:130883871_130883872insAATTTACA	ENST00000509018.1	-	6	568_569	c.363_364insTGTAAATT	c.(361-366)gccaaafs	p.K122fs	RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.K122fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.K172fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.K122fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	122					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCATTATCTTTGGCATTCTCTA	0.347																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000507093.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(361-366)gccaaafs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130883871_130883872insAATTTACA	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.363_364insTGTAAATT	5.37:g.130883871_130883872insAATTTACA	ENSP00000421684:p.Lys122fs	True	False		Somatic	0				RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000509018.1_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.K122fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.K172fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.K122fs|RAPGEF6_ENST00000503398.2_5'UTR|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.K122fs	p.K122fs	NM_001164388.1	NP_001157860.1	WXS	Illumina HiSeq	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	6	544_545	-			122					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.363_364insTGTAAATT	CCDS34225.1																																																																																				0.347	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	0	NM_016340		5:130883871
FAM135A	57579	broad.mit.edu	37	6	71235945	71235946	+	In_Frame_Ins	INS	-	-	ATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:71235945_71235946insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	ENST00000418814.2	+	15	3772_3773	c.3158_3159insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	c.(3157-3162)gacaca>gaATACATCTGTGTGAGATTTAATACATCACTATTTTTTTTcaca	p.1053_1053D>EYICVRFNTSLFFF	FAM135A_ENST00000505868.1_In_Frame_Ins_p.1053_1053D>EYICVRFNTSLFFF|FAM135A_ENST00000505769.1_In_Frame_Ins_p.633_633D>EYICVRFNTSLFFF|FAM135A_ENST00000370479.3_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF|FAM135A_ENST00000361499.3_In_Frame_Ins_p.857_857D>EYICVRFNTSLFFF|FAM135A_ENST00000457062.2_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1053										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATATTTCTGACACATGTGCTG	0.401																																						ENST00000505769.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1897-1902)gacaca>gaATACATCTGTGTGAGATTTAATACATCACTATTTTTTTTcaca		family with sequence similarity 135, member A																																				SO:0001652	inframe_insertion	57579							g.chr6:71235945_71235946insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	Exception_encountered	6.37:g.71235945_71235946insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	ENSP00000410768:p.Asp1053delinsGluTyrIleCysValArgPheAsnThrSerLeuPhePhePhe	False	False		Somatic	0				FAM135A_ENST00000418814.2_In_Frame_Ins_p.1053_1053D>EYICVRFNTSLFFF|FAM135A_ENST00000370479.3_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF|FAM135A_ENST00000361499.3_In_Frame_Ins_p.857_857D>EYICVRFNTSLFFF|FAM135A_ENST00000505868.1_In_Frame_Ins_p.1053_1053D>EYICVRFNTSLFFF|FAM135A_ENST00000457062.2_In_Frame_Ins_p.840_840D>EYICVRFNTSLFFF	p.633_633D>EYICVRFNTSLFFF			WXS	Illumina HiSeq	Phase_I	Q9P2D6	F135A_HUMAN			15	2305_2306	+			1053					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	In_Frame_Ins	INS	ENST00000418814.2	37	c.1898_1899insATACATCTGTGTGAGATTTAATACATCACTATTTTTTTT	CCDS55028.1																																																																																				0.401	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	0	NM_020819		6:71235945
PRSS3P2	154754	broad.mit.edu	37	7	142481230	142481232	+	RNA	DEL	ATT	ATT	-			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	ATT	ATT	-	-	ATT	ATT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:142481230_142481232delATT	ENST00000603901.1	+	0	304_306					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATACAACAGGATTATTCTGAACA	0.522																																						ENST00000603901.1		NA																	0					NA																																														0							g.chr7:142481230_142481232delATT			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481233_142481235delATT		False	False		Somatic	2						NR_001296.3		WXS	Illumina HiSeq	Phase_I					0	304_306	+			NA						RNA	DEL	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	0	NR_001296		7:142481230
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A	rs371989300		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						ENST00000343597.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		family with sequence similarity 111, member B		G	,,	1,4401	2.1+/-5.4	0,1,2200	68.0	75.0	73.0		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A		False	False		Somatic	0				FAM111B_ENST00000411426.1_Silent_p.P338P|FAM111B_ENST00000529618.1_Silent_p.P338P	p.P368P	NM_198947.3	NP_945185.1	WXS	Illumina HiSeq	Phase_I	Q6SJ93	F111B_HUMAN			4	1295	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	0	NM_198947		11:58892674
SAMD9L	219285	broad.mit.edu	37	7	92761818	92761818	+	Missense_Mutation	SNP	G	G	A	rs374886942		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:92761818G>A	ENST00000318238.4	-	5	4683	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTTTTTCCGCAGCTTCTAG	0.413																																						ENST00000318238.4		NA																	0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3466-3468)gCg>gTg		sterile alpha motif domain containing 9-like		G	VAL/ALA	0,4406		0,0,2203	130.0	136.0	134.0		3467	4.0	0.9	7		134	2,8598	2.2+/-6.3	0,2,4298	no	missense	SAMD9L	NM_152703.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1156/1585	92761818	2,13004	2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761818G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3467C>T	7.37:g.92761818G>A	ENSP00000326247:p.Ala1156Val	False	False		Somatic	0				SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V	p.A1156V	NM_152703.2	NP_689916.2	WXS	Illumina HiSeq	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4683	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1156					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3467C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441676	0.43326	0.0	2.33E-4	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.29917	1.55;1.55;1.55	4.88	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	M	0.71036	2.16	0.51767	D	0.999932	P	0.47350	0.894	B	0.35971	0.215	T	0.35051	-0.9804	10	0.87932	D	0	-9.6701	12.8992	0.58115	0.0796:0.0:0.9204:0.0	.	1156	Q8IVG5	SAM9L_HUMAN	V	1156	ENSP00000326247:A1156V;ENSP00000405760:A1156V;ENSP00000408796:A1156V	ENSP00000326247:A1156V	A	-	2	0	SAMD9L	92599754	0.996000	0.38824	0.853000	0.33588	0.020000	0.10135	2.453000	0.44970	1.283000	0.44513	-0.373000	0.07131	GCG		0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	0	NM_152703		7:92761818
KCNH1	3756	broad.mit.edu	37	1	211263994	211263994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:211263994G>A	ENST00000271751.4	-	4	376	c.349C>T	c.(349-351)Cga>Tga	p.R117*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.R117*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	117	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGTTCGTTTCGAATTGGAGCA	0.378																																						ENST00000367007.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(349-351)Cga>Tga		potassium voltage-gated channel, subfamily H (eag-related), member 1							96.0	94.0	95.0					1																	211263994		2203	4300	6503	SO:0001587	stop_gained	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211263994G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.349C>T	1.37:g.211263994G>A	ENSP00000271751:p.Arg117*	False	False		Somatic	0				KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R117*	p.R117*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	WXS	Illumina HiSeq	Phase_I	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	4	518	-			117			PAC.		B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	c.349C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	38	7.239776	0.98157	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.22	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	11.8706	0.52519	0.0:0.0:0.6718:0.3282	.	.	.	.	X	117	.	ENSP00000271751:R117X	R	-	1	2	KCNH1	209330617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.394000	0.44450	1.141000	0.42275	0.655000	0.94253	CGA		0.378	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	0	NM_002238		1:211263994
TRIOBP	11078	broad.mit.edu	37	22	38120997	38120997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:38120997C>T	ENST00000406386.3	+	7	2689	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	812					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCACCCAACAGGACAACCC	0.517																																						ENST00000406386.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2434-2436)Cag>Tag		TRIO and F-actin binding protein							161.0	170.0	167.0					22																	38120997		1982	4174	6156	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120997C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2434C>T	22.37:g.38120997C>T	ENSP00000384312:p.Gln812*	False	False		Somatic	0					p.Q812*	NM_001039141.2	NP_001034230.1	WXS	Illumina HiSeq	Phase_I	Q9H2D6	TARA_HUMAN			7	2689	+	Melanoma(58;0.0574)		812					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.2434C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	39	7.393041	0.98255	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.21	0.597	0.17504	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.6691	0.40002	0.5296:0.4704:0.0:0.0	.	.	.	.	X	812	.	ENSP00000384312:Q812X	Q	+	1	0	TRIOBP	36450943	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-3.739000	0.00379	0.030000	0.15379	0.460000	0.39030	CAG		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0			22:38120997
EHMT2	10919	broad.mit.edu	37	6	31850736	31850736	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:31850736G>A	ENST00000375537.4	-	24	3051	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	EHMT2_ENST00000395728.3_Silent_p.F1072F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Silent_p.F981F	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1015	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTTACACTCGAAAATCAGCG	0.577																																						ENST00000395728.3		NA																	0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3214-3216)ttC>ttT		euchromatic histone-lysine N-methyltransferase 2							70.0	70.0	70.0					6																	31850736		1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850736G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3045C>T	6.37:g.31850736G>A		True	False		Somatic	0				EHMT2_ENST00000375530.4_Silent_p.F981F|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.F1015F	p.F1072F			WXS	Illumina HiSeq	Phase_I	Q96KQ7	EHMT2_HUMAN			23	3215	-			1015			SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3216C>T	CCDS4725.1																																																																																				0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	0	NM_006709		6:31850736
SMARCC1	6599	broad.mit.edu	37	3	47651727	47651727	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:47651727T>C	ENST00000254480.5	-	26	2991	c.2872A>G	c.(2872-2874)Atg>Gtg	p.M958V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	958					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGCTGTTCCATTTGCTGTCGT	0.542																																						ENST00000254480.5		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2872-2874)Atg>Gtg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							309.0	270.0	283.0					3																	47651727		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47651727T>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2872A>G	3.37:g.47651727T>C	ENSP00000254480:p.Met958Val	True	False		Somatic	0				SMARCC1_ENST00000425518.1_5'UTR	p.M958V	NM_003074.3	NP_003065.3	WXS	Illumina HiSeq	Phase_I	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2991	-			958					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2872A>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	2.078	-0.411502	0.04799	.	.	ENSG00000173473	ENST00000254480	T	0.62498	0.02	5.85	4.68	0.58851	.	0.177402	0.64402	D	0.000018	T	0.31451	0.0797	N	0.02011	-0.69	0.38545	D	0.949318	B	0.06786	0.001	B	0.06405	0.002	T	0.17806	-1.0357	10	0.08837	T	0.75	-19.8043	11.3715	0.49702	0.0:0.0:0.2894:0.7106	.	958	Q92922	SMRC1_HUMAN	V	958	ENSP00000254480:M958V	ENSP00000254480:M958V	M	-	1	0	SMARCC1	47626731	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.897000	0.56273	1.014000	0.39417	-0.316000	0.08728	ATG		0.542	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1	0			3:47651727
VN1R2	317701	broad.mit.edu	37	19	53762737	53762737	+	Missense_Mutation	SNP	G	G	A	rs374144136		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:53762737G>A	ENST00000341702.3	+	1	1193	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTCATGTGCCGTGACCCCAGC	0.428																																						ENST00000341702.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1108-1110)cGt>cAt		vomeronasal 1 receptor 2		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	159.0	151.0	154.0		1109	-0.6	0.0	19		154	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	370/396	53762737	2,13004	2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762737G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1109G>A	19.37:g.53762737G>A	ENSP00000351244:p.Arg370His	False	False		Somatic	0				VN1R2_ENST00000598458.1_Intron	p.R370H	NM_173856.2	NP_776255.2	WXS	Illumina HiSeq	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1193	+			370					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1109G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089310	0.08632	4.54E-4	0.0	ENSG00000196131	ENST00000341702	T	0.41065	1.01	2.94	-0.602	0.11634	.	.	.	.	.	T	0.22399	0.0540	L	0.27053	0.805	0.09310	N	1	B	0.31879	0.344	B	0.29862	0.108	T	0.23154	-1.0196	9	0.12430	T	0.62	.	5.3114	0.15833	0.451:0.0:0.549:0.0	.	370	Q8NFZ6	VN1R2_HUMAN	H	370	ENSP00000351244:R370H	ENSP00000351244:R370H	R	+	2	0	VN1R2	58454549	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.212000	0.09319	-0.020000	0.14032	-0.234000	0.12200	CGT		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	0	NM_173856		19:53762737
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:167385027A>G	ENST00000541643.3	+	17	2374	c.2212A>G	c.(2212-2214)Acc>Gcc	p.T738A	POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367862.5_Missense_Mutation_p.T750A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582																																						ENST00000367862.5		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2248-2250)Acc>Gcc		POU class 2 homeobox 1							78.0	82.0	81.0					1																	167385027		2201	4300	6501	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385027A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2212A>G	1.37:g.167385027A>G	ENSP00000441285:p.Thr738Ala	True	False		Somatic	0				POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A	p.T750A	NM_001198783.1	NP_001185712.1	WXS	Illumina HiSeq	Phase_I	P14859	PO2F1_HUMAN			16	2483	+			738					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2248A>G		.	.	.	.	.	.	.	.	.	.	A	12.01	1.809648	0.31961	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86097	-2.07;-2.03;-2.05;-2.04;-2.05	5.91	4.79	0.61399	.	0.919652	0.09285	N	0.823231	T	0.56232	0.1971	N	0.22421	0.69	0.31475	N	0.667872	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.26538	-1.0100	9	0.17832	T	0.49	.	6.4637	0.21970	0.7877:0.0:0.0736:0.1387	.	698;750;736;738	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	A	761;698;736;738;750	ENSP00000356840:T761A;ENSP00000401217:T698A;ENSP00000356839:T736A;ENSP00000441285:T738A;ENSP00000356836:T750A	ENSP00000356836:T750A	T	+	1	0	POU2F1	165651651	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.700000	0.61803	1.072000	0.40860	0.533000	0.62120	ACC		0.582	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_002697		1:167385027
TTN	7273	broad.mit.edu	37	2	179476531	179476531	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:179476531G>A	ENST00000591111.1	-	218	45806	c.45582C>T	c.(45580-45582)ggC>ggT	p.G15194G	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.G16835G|TTN_ENST00000342992.6_Silent_p.G14267G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G7895G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15194	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGGGTGGCCAACTCCAG	0.443																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50503-50505)ggC>ggT		titin							139.0	134.0	136.0					2																	179476531		1948	4148	6096	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476531G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45582C>T	2.37:g.179476531G>A		False	False		Somatic	0				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G7895G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN_ENST00000591111.1_Silent_p.G15194G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.G16835G	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		268	50729	-			15194					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.50505C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179476531
TTLL8	164714	broad.mit.edu	37	22	50487686	50487686	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:50487686C>T	ENST00000266182.6	-	3	255	c.256G>A	c.(256-258)Gac>Aac	p.D86N	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	122					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ACCATCACGTCGTGGATGTTG	0.527																																						ENST00000266182.6		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(256-258)Gac>Aac		tubulin tyrosine ligase-like family, member 8							323.0	344.0	337.0					22																	50487686		2113	4232	6345	SO:0001583	missense	164714							g.chr22:50487686C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.256G>A	22.37:g.50487686C>T	ENSP00000266182:p.Asp86Asn	False	False		Somatic	0				TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N|TTLL8_ENST00000477219.1_5'UTR	p.D86N			WXS	Illumina HiSeq	Phase_I				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	3	255	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	NA					B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	3.584	-0.084930	0.07097	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.16743	2.32;2.32;2.32	4.67	2.56	0.30785	.	0.851391	0.09565	U	0.785033	T	0.12050	0.0293	N	0.19112	0.55	0.20638	N	0.999876	B	0.13145	0.007	B	0.06405	0.002	T	0.33727	-0.9857	10	0.30078	T	0.28	.	11.2427	0.48979	0.0:0.8981:0.0:0.1019	.	86	B5MDV0	.	N	86;86;122	ENSP00000266182:D86N;ENSP00000387509:D86N;ENSP00000392252:D122N	ENSP00000266182:D86N	D	-	1	0	TTLL8	48829813	0.009000	0.17119	0.054000	0.19295	0.000000	0.00434	1.434000	0.34958	0.390000	0.25115	-1.149000	0.01842	GAC		0.527	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_001080447		22:50487686
TGM5	9333	broad.mit.edu	37	15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587																																						ENST00000220420.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(58-60)Cgg>Tgg		transglutaminase 5	L-Glutamine(DB00130)						110.0	113.0	112.0					15																	43552730		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552730G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.58C>T	15.37:g.43552730G>A	ENSP00000220420:p.Arg20Trp	False	False		Somatic	0				TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	p.R20W	NM_201631.3	NP_963925.2	WXS	Illumina HiSeq	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	65	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	20					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.58C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741549	0.30865	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.85088	-1.94;-1.94	5.64	1.55	0.23275	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.143940	0.06194	N	0.681888	T	0.81616	0.4860	L	0.40543	1.245	0.09310	N	1	D;P	0.56287	0.975;0.903	B;P	0.47827	0.253;0.558	T	0.68070	-0.5506	10	0.72032	D	0.01	-1.8221	3.7194	0.08450	0.0758:0.2681:0.3804:0.2758	.	20;20	O43548-2;O43548	.;TGM5_HUMAN	W	20;20;19	ENSP00000220420:R20W;ENSP00000220419:R20W	ENSP00000220420:R20W	R	-	1	2	TGM5	41340022	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.060000	0.14342	0.040000	0.15660	0.555000	0.69702	CGG		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	0	NM_004245		15:43552730
WWTR1	25937	broad.mit.edu	37	3	149260145	149260145	+	Missense_Mutation	SNP	G	G	A	rs200641813		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:149260145G>A	ENST00000465804.1	-	5	1004	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C|WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	250					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCTCTTGGCGCATTCGAATC	0.552			T	CAMTA1	epitheliod hemangioendothelioma								G|||	1	0.000199681	0.0	0.0	5008	,	,		18468	0.001		0.0	False		,,,				2504	0.0					ENST00000465804.1		NA		Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(748-750)Cgc>Tgc		WW domain containing transcription regulator 1							126.0	109.0	115.0					3																	149260145		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260145G>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.748C>T	3.37:g.149260145G>A	ENSP00000419465:p.Arg250Cys	False	False		Somatic	0				WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C|WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C	p.R250C	NM_001168278.1	NP_001161750.1	WXS	Illumina HiSeq	Phase_I	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	1004	-			250					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.748C>T	CCDS3144.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.0	4.225035	0.79576	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.55052	0.54;0.54;0.54	5.26	5.26	0.73747	.	0.229595	0.38381	N	0.001711	T	0.74496	0.3724	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.77302	-0.2638	10	0.87932	D	0	-28.3108	19.0748	0.93156	0.0:0.0:1.0:0.0	.	250	Q9GZV5	WWTR1_HUMAN	C	250;250;250;108	ENSP00000419465:R250C;ENSP00000353847:R250C;ENSP00000419234:R250C	ENSP00000353847:R250C	R	-	1	0	WWTR1	150742835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.272000	0.58908	2.733000	0.93635	0.655000	0.94253	CGC		0.552	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	0	NM_015472		3:149260145
RFC2	5982	broad.mit.edu	37	7	73663432	73663432	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:73663432C>T	ENST00000055077.3	-	4	302	c.242G>A	c.(241-243)gGc>gAc	p.G81D	RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	81					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGTGGTCTTGCCGGTTCCTGG	0.517																																						ENST00000055077.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(241-243)gGc>gAc		replication factor C (activator 1) 2, 40kDa							73.0	77.0	75.0					7																	73663432		2203	4300	6503	SO:0001583	missense	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73663432C>T		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.242G>A	7.37:g.73663432C>T	ENSP00000055077:p.Gly81Asp	False	False		Somatic	0				RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	p.G81D	NM_181471.1	NP_852136.1	WXS	Illumina HiSeq	Phase_I	P35250	RFC2_HUMAN			4	302	-			81					B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	c.242G>A	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040840	0.75732	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	D;D	0.93859	-3.3;-3.3	4.65	4.65	0.58169	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047563	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98769	4.325	0.80722	D	1	P;P;D	0.56746	0.705;0.749;0.977	P;P;P	0.55112	0.519;0.651;0.769	D	0.98834	1.0752	10	0.87932	D	0	.	14.6174	0.68558	0.0:1.0:0.0:0.0	.	81;81;81	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	D	81	ENSP00000275627:G81D;ENSP00000055077:G81D	ENSP00000055077:G81D	G	-	2	0	RFC2	73301368	1.000000	0.71417	0.992000	0.48379	0.622000	0.37654	7.444000	0.80532	2.318000	0.78349	0.455000	0.32223	GGC		0.517	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	0	NM_181471		7:73663432
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1		NA																	0					NA																																														0							g.chr17:45128735T>C																													17.37:g.45128735T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1	0			17:45128735
TMCO5A	145942	broad.mit.edu	37	15	38234406	38234406	+	Silent	SNP	G	G	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:38234406G>T	ENST00000319669.4	+	8	621	c.519G>T	c.(517-519)acG>acT	p.T173T	TMCO5A_ENST00000558158.1_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T|TMCO5A_ENST00000559502.1_Silent_p.T173T	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	173						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ACCAGGAAACGTTGAAGAAAA	0.373																																						ENST00000558158.1		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(517-519)acG>acT		transmembrane and coiled-coil domains 5A							172.0	179.0	177.0					15																	38234406		2200	4297	6497	SO:0001819	synonymous_variant	145942					integral to membrane		g.chr15:38234406G>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.519G>T	15.37:g.38234406G>T		False	False		Somatic	0				TMCO5A_ENST00000559502.1_Silent_p.T173T|TMCO5A_ENST00000319669.4_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T	p.T173T			WXS	Illumina HiSeq	Phase_I	Q8N6Q1	TMC5A_HUMAN			9	673	+			173					Q8NA63	Silent	SNP	ENST00000319669.4	37	c.519G>T	CCDS10046.1																																																																																				0.373	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	0	NM_152453		15:38234406
SPATA17	128153	broad.mit.edu	37	1	217975123	217975123	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:217975123C>A	ENST00000366933.4	+	9	991	c.936C>A	c.(934-936)agC>agA	p.S312R	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	312						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTTATCAAGCAAGTATGGTC	0.294																																						ENST00000366933.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(934-936)agC>agA		spermatogenesis associated 17							55.0	56.0	56.0					1																	217975123		2200	4291	6491	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217975123C>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.936C>A	1.37:g.217975123C>A	ENSP00000355900:p.Ser312Arg	True	False		Somatic	0				SPATA17_ENST00000471021.1_3'UTR	p.S312R	NM_138796.2	NP_620151.1	WXS	Illumina HiSeq	Phase_I	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	9	991	+			312					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.936C>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819364	0.71028	.	.	ENSG00000162814	ENST00000366933	T	0.49139	0.79	4.9	2.94	0.34122	.	0.581965	0.16566	N	0.208837	T	0.50599	0.1625	M	0.71581	2.175	0.27832	N	0.941417	P	0.50272	0.933	P	0.48030	0.564	T	0.49661	-0.8916	10	0.72032	D	0.01	-12.2977	7.412	0.27023	0.1261:0.6661:0.0:0.2078	.	312	Q96L03	SPT17_HUMAN	R	312	ENSP00000355900:S312R	ENSP00000355900:S312R	S	+	3	2	SPATA17	216041746	0.996000	0.38824	0.990000	0.47175	0.453000	0.32348	0.228000	0.17814	1.150000	0.42419	0.563000	0.77884	AGC		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	0	NM_138796		1:217975123
FH	2271	broad.mit.edu	37	1	241663871	241663871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:241663871G>T	ENST00000366560.3	-	9	1294	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1255-1257)tCa>tAa		fumarate hydratase							81.0	78.0	79.0					1																	241663871		2203	4300	6503	SO:0001587	stop_gained	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241663871G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1256C>A	1.37:g.241663871G>T	ENSP00000355518:p.Ser419*	False	False		Somatic	0					p.S419*	NM_000143.3	NP_000134.2	WXS	Illumina HiSeq	Phase_I	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	9	1294	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	419					B1ANK7	Nonsense_Mutation	SNP	ENST00000366560.3	37	c.1256C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957369	0.97964	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.71	5.71	0.89125	.	0.129744	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.2891	17.3485	0.87316	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000355518:S419X	S	-	2	0	FH	239730494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.697000	0.92050	0.655000	0.94253	TCA		0.438	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	0	NM_000143		1:241663871
GNAT1	2779	broad.mit.edu	37	3	50231284	50231284	+	Missense_Mutation	SNP	C	C	T	rs375795574		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:50231284C>T	ENST00000433068.1	+	5	604	c.548C>T	c.(547-549)aCg>aTg	p.T183M	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.T183M	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCATCGAGACGCAGTTCTCC	0.652																																						ENST00000232461.3		NA																	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(547-549)aCg>aTg		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1		C	MET/THR,MET/THR	0,4406		0,0,2203	81.0	73.0	76.0		548,548	5.7	1.0	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAT1	NM_000172.3,NM_144499.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/351,183/351	50231284	1,13005	2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231284C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.548C>T	3.37:g.50231284C>T	ENSP00000387555:p.Thr183Met	False	False		Somatic	0				GNAT1_ENST00000433068.1_Missense_Mutation_p.T183M|GNAT1_ENST00000481246.1_3'UTR	p.T183M	NM_144499.2	NP_653082.1	WXS	Illumina HiSeq	Phase_I	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	5	662	+			183					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.548C>T	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407214	0.83230	0.0	1.16E-4	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.89196	-2.48;-2.48	5.7	5.7	0.88788	.	0.045321	0.85682	D	0.000000	D	0.94945	0.8365	M	0.83118	2.625	0.47374	D	0.999403	D	0.89917	1.0	D	0.77004	0.989	D	0.95088	0.8219	10	0.72032	D	0.01	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	183	P11488	GNAT1_HUMAN	M	183	ENSP00000232461:T183M;ENSP00000387555:T183M	ENSP00000232461:T183M	T	+	2	0	GNAT1	50206288	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	4.464000	0.60134	2.711000	0.92665	0.561000	0.74099	ACG		0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	0	NM_000172		3:50231284
PGAM4	441531	broad.mit.edu	37	X	77224547	77224547	+	Missense_Mutation	SNP	C	C	G	rs148072662		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224547C>G	ENST00000458128.1	-	1	588	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	197					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						AGACCCTCCACATGCTTGGCA	0.507																																						ENST00000458128.1		NA																	0				endometrium(2)|lung(4)	6						c.(589-591)Gtg>Ctg		phosphoglycerate mutase family member 4							117.0	109.0	112.0					X																	77224547		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224547C>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.589G>C	X.37:g.77224547C>G	ENSP00000412189:p.Val197Leu	False	False		Somatic	0				ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	p.V197L	NM_001029891.2	NP_001025062.1	WXS	Illumina HiSeq	Phase_I	Q8N0Y7	PGAM4_HUMAN			1	588	-			197					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.589G>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.261655	0.01445	.	.	ENSG00000226784	ENST00000458128	T	0.75050	-0.9	0.119	-0.238	0.13055	.	0.228496	0.30901	N	0.008654	T	0.12050	0.0293	N	0.00000	-4.07	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.54589	-0.8271	9	.	.	.	-28.907	2.1607	0.03824	0.0:0.3336:0.3399:0.3265	.	197	Q8N0Y7	PGAM4_HUMAN	L	197	ENSP00000412189:V197L	.	V	-	1	0	PGAM4	77111203	1.000000	0.71417	0.624000	0.29186	0.632000	0.37999	1.491000	0.35583	-1.166000	0.02783	-1.192000	0.01694	GTG		0.507	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	0	NM_001029891		X:77224547
SRI	6717	broad.mit.edu	37	7	87840221	87840221	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:87840221G>A	ENST00000265729.2	-	4	277	c.225C>T	c.(223-225)tgC>tgT	p.C75C	SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000431660.1_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	75	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCATAAGCCGGCAAGTCTCCA	0.284																																						ENST00000265729.2		NA																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(223-225)tgC>tgT		sorcin							51.0	52.0	52.0					7																	87840221		2203	4295	6498	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87840221G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.225C>T	7.37:g.87840221G>A		False	False		Somatic	0				SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000431660.1_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C	p.C75C	NM_003130.3	NP_003121.1	WXS	Illumina HiSeq	Phase_I	P30626	SORCN_HUMAN			4	277	-	Esophageal squamous(14;0.00202)		75			EF-hand 2.		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.225C>T	CCDS5612.1																																																																																				0.284	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	0	NM_003130		7:87840221
C9orf131	138724	broad.mit.edu	37	9	35044336	35044336	+	Silent	SNP	G	G	A	rs115027328		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:35044336G>A	ENST00000312292.5	+	2	1757	c.1710G>A	c.(1708-1710)ccG>ccA	p.P570P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.P497P|C9orf131_ENST00000421362.2_Silent_p.P522P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	570										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCTTGCACCGGAGCTGCTCA	0.527																																						ENST00000312292.5		NA																	0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1708-1710)ccG>ccA		chromosome 9 open reading frame 131							125.0	128.0	127.0					9																	35044336		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35044336G>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1710G>A	9.37:g.35044336G>A		False	False		Somatic	0				C9orf131_ENST00000354479.5_Silent_p.P497P|C9orf131_ENST00000421362.2_Silent_p.P522P	p.P570P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina HiSeq	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1757	+	all_epithelial(49;0.22)		570					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.1710G>A	CCDS6572.2																																																																																				0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	0	NM_203299		9:35044336
HEPHL1	341208	broad.mit.edu	37	11	93800764	93800764	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:93800764A>G	ENST00000315765.9	+	5	919	c.911A>G	c.(910-912)cAt>cGt	p.H304R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	304	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGACATCCATTCTATCTAT	0.463																																						ENST00000315765.9		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(910-912)cAt>cGt		hephaestin-like 1							178.0	178.0	178.0					11																	93800764		1953	4138	6091	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800764A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.911A>G	11.37:g.93800764A>G	ENSP00000313699:p.His304Arg	False	False		Somatic	0					p.H304R	NM_001098672.1	NP_001092142.1	WXS	Illumina HiSeq	Phase_I	Q6MZM0	HPHL1_HUMAN			5	919	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	304			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.911A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413281	0.83449	.	.	ENSG00000181333	ENST00000315765	D	0.99824	-6.96	5.36	5.36	0.76844	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96432	0.9320	10	0.87932	D	0	.	15.6458	0.77049	1.0:0.0:0.0:0.0	.	304	Q6MZM0	HPHL1_HUMAN	R	304	ENSP00000313699:H304R	ENSP00000313699:H304R	H	+	2	0	HEPHL1	93440412	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.991000	0.93514	2.158000	0.67659	0.459000	0.35465	CAT		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	0	XM_291947		11:93800764
EEF1A2	1917	broad.mit.edu	37	20	62122019	62122019	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:62122019G>A	ENST00000298049.7	-	5	912	c.842C>T	c.(841-843)gCg>gTg	p.A281V	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A281V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTTCACTGGCGCAAAGGTCAC	0.637																																						ENST00000217182.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(841-843)gCg>gTg		eukaryotic translation elongation factor 1 alpha 2							61.0	56.0	58.0					20																	62122019		2197	4287	6484	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62122019G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.842C>T	20.37:g.62122019G>A	ENSP00000298049:p.Ala281Val	False	False		Somatic	0				EEF1A2_ENST00000298049.7_Missense_Mutation_p.A281V	p.A281V	NM_001958.3	NP_001949.1	WXS	Illumina HiSeq	Phase_I	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1007	-	all_cancers(38;9.45e-12)		281					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.842C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392399	0.62066	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.62364	0.03;0.03	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060894	0.64402	D	0.000005	T	0.80919	0.4716	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.71414	0.973;0.824	D	0.85861	0.1410	10	0.87932	D	0	-14.6002	16.0768	0.80974	0.0:0.0:1.0:0.0	.	257;281	Q59GP5;Q05639	.;EF1A2_HUMAN	V	281	ENSP00000298049:A281V;ENSP00000217182:A281V	ENSP00000217182:A281V	A	-	2	0	EEF1A2	61592463	1.000000	0.71417	0.393000	0.26258	0.050000	0.14768	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	GCG		0.637	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	0	NM_001958		20:62122019
RNF133	168433	broad.mit.edu	37	7	122338787	122338787	+	Missense_Mutation	SNP	A	A	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:122338787A>T	ENST00000340112.2	-	1	423	c.186T>A	c.(184-186)ttT>ttA	p.F62L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	62					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTTCTTCCAAAGACTCCAG	0.423																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2		NA																	0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(184-186)ttT>ttA		ring finger protein 133							108.0	110.0	110.0					7																	122338787		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338787A>T	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.186T>A	7.37:g.122338787A>T	ENSP00000344489:p.Phe62Leu	True	False		Somatic	0				CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	p.F62L	NM_139175.1	NP_631914.1	WXS	Illumina HiSeq	Phase_I	Q8WVZ7	RN133_HUMAN			1	423	-			62					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.186T>A	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079128	0.76528	.	.	ENSG00000188050	ENST00000340112	T	0.24538	1.85	6.06	3.71	0.42584	.	0.154247	0.43747	D	0.000537	T	0.42471	0.1204	M	0.65498	2.005	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	T	0.25710	-1.0124	10	0.87932	D	0	.	9.7273	0.40339	0.8574:0.0:0.1426:0.0	.	62	Q8WVZ7	RN133_HUMAN	L	62	ENSP00000344489:F62L	ENSP00000344489:F62L	F	-	3	2	RNF133	122126023	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	0.994000	0.29693	0.542000	0.28846	0.533000	0.62120	TTT		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	0	NM_139175		7:122338787
LRTM2	654429	broad.mit.edu	37	12	1943759	1943759	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:1943759G>A	ENST00000543818.1	+	5	1827	c.985G>A	c.(985-987)Gct>Act	p.A329T	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	329						integral component of membrane (GO:0016021)		p.A329T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTGGTGGCCGCTGCCTATGG	0.662																																						ENST00000543818.1		NA																	1	Substitution - Missense(1)	p.A329T(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(985-987)Gct>Act		leucine-rich repeats and transmembrane domains 2							47.0	43.0	44.0					12																	1943759		2193	4271	6464	SO:0001583	missense	0					integral to membrane		g.chr12:1943759G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.985G>A	12.37:g.1943759G>A	ENSP00000446278:p.Ala329Thr	False	False		Somatic	0				CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T	p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	WXS	Illumina HiSeq	Phase_I	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1827	+	Ovarian(42;0.107)		329					A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.985G>A	CCDS31726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.309844|3.309844	0.60414|0.60414	.|.	.|.	ENSG00000166159|ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041|ENST00000424079	T;T;T|.	0.59502|.	0.26;0.26;0.26|.	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68765|.	0.96|.	T|T	0.75010|0.75010	-0.3468|-0.3468	10|6	0.87932|0.87932	D|D	0|0	.|.	14.1474|14.1474	0.65360|0.65360	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	329|.	Q8N967|.	LRTM2_HUMAN|.	T|H	329|85	ENSP00000446278:A329T;ENSP00000299194:A329T;ENSP00000444737:A329T|.	ENSP00000299194:A329T|ENSP00000394967:R85H	A|R	+|+	1|2	0|0	LRTM2|LRTM2	1814020|1814020	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.010000|0.010000	0.07245|0.07245	9.869000|9.869000	0.99810|0.99810	1.302000|1.302000	0.44855|0.44855	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC		0.662	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1	0			12:1943759
ADPRHL2	54936	broad.mit.edu	37	1	36557376	36557376	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36557376C>T	ENST00000373178.4	+	3	496	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	156						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGGTGCCATGCGGGTGGCTGG	0.582																																						ENST00000373178.4		NA																	0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(466-468)Cgg>Tgg		ADP-ribosylhydrolase like 2							62.0	61.0	61.0					1																	36557376		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36557376C>T	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.466C>T	1.37:g.36557376C>T	ENSP00000362273:p.Arg156Trp	True	False		Somatic	0					p.R156W	NM_017825.2	NP_060295.1	WXS	Illumina HiSeq	Phase_I	Q9NX46	ARHL2_HUMAN			3	496	+		Myeloproliferative disorder(586;0.0393)	156					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.466C>T	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766089	0.69878	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.59906	0.23	5.35	2.31	0.28768	.	0.000000	0.85682	D	0.000000	D	0.82444	0.5038	H	0.96269	3.795	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.88017	0.2766	10	0.87932	D	0	-16.3839	14.9511	0.71074	0.6175:0.3825:0.0:0.0	.	156	Q9NX46	ARHL2_HUMAN	W	156;76;2	ENSP00000362273:R156W	ENSP00000362273:R156W	R	+	1	2	ADPRHL2	36329963	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.643000	0.61390	0.608000	0.30000	-0.261000	0.10672	CGG		0.582	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	0	NM_017825		1:36557376
NRXN1	9378	broad.mit.edu	37	2	51254959	51254959	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:51254959G>A	ENST00000406316.2	-	2	1929	c.453C>T	c.(451-453)agC>agT	p.S151S	NRXN1_ENST00000404971.1_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S|NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGAAAAGGCCGCTGAACACCG	0.672																																						ENST00000404971.1		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(451-453)agC>agT		neurexin 1							26.0	32.0	30.0					2																	51254959		2130	4244	6374	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254959G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.453C>T	2.37:g.51254959G>A		False	False		Somatic	0				NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S|NRXN1_ENST00000406316.2_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S	p.S151S	NM_001135659.1	NP_001129131.1	WXS	Illumina HiSeq	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1792	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	151			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.453C>T	CCDS54360.1																																																																																				0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2	0			2:51254959
ZC3H3	23144	broad.mit.edu	37	8	144547942	144547942	+	Missense_Mutation	SNP	C	C	T	rs113716075		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:144547942C>T	ENST00000262577.5	-	9	2283	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	751					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTCGGCCTTGCGGGACACGTA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19798	0.0		0.001	False		,,,				2504	0.0					ENST00000262577.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2251-2253)cGc>cAc		zinc finger CCCH-type containing 3		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	107.0	87.0	94.0		2252	2.7	1.0	8	dbSNP_132	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZC3H3	NM_015117.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	751/949	144547942	3,13003	2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144547942C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2252G>A	8.37:g.144547942C>T	ENSP00000262577:p.Arg751His	True	False		Somatic	0					p.R751H	NM_015117.2	NP_055932.2	WXS	Illumina HiSeq	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2283	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		751					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.2252G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915110	0.52546	4.54E-4	1.16E-4	ENSG00000014164	ENST00000262577	T	0.71341	-0.56	4.9	2.7	0.31948	Zinc finger, CCCH-type (2);	0.132811	0.49305	D	0.000156	T	0.53174	0.1780	L	0.31526	0.94	0.38805	D	0.955289	P	0.39520	0.676	B	0.32022	0.139	T	0.60637	-0.7224	10	0.72032	D	0.01	-20.5515	10.588	0.45294	0.1341:0.7844:0.0:0.0815	.	751	Q8IXZ2	ZC3H3_HUMAN	H	751	ENSP00000262577:R751H	ENSP00000262577:R751H	R	-	2	0	ZC3H3	144619085	1.000000	0.71417	0.993000	0.49108	0.843000	0.47879	3.695000	0.54749	1.057000	0.40506	0.561000	0.74099	CGC		0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	NM_015117		8:144547942
SLX4	84464	broad.mit.edu	37	16	3658692	3658692	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:3658692T>C	ENST00000294008.3	-	2	914	c.274A>G	c.(274-276)Agg>Ggg	p.R92G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	92	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTTTGGTCCTTTTCAATTTG	0.468								Direct reversal of damage																														ENST00000294008.3		NA																	0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(274-276)Agg>Ggg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							171.0	155.0	160.0					16																	3658692		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658692T>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.274A>G	16.37:g.3658692T>C	ENSP00000294008:p.Arg92Gly	True	False		Somatic	0					p.R92G	NM_032444.2	NP_115820.2	WXS	Illumina HiSeq	Phase_I	Q8IY92	SLX4_HUMAN			2	914	-			92			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.274A>G	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708580	0.48517	.	.	ENSG00000188827	ENST00000294008	T	0.01629	4.72	5.3	4.21	0.49690	.	0.184996	0.25786	N	0.028317	T	0.03434	0.0099	L	0.36672	1.1	0.25679	N	0.985811	D	0.59767	0.986	P	0.53954	0.738	T	0.40664	-0.9551	10	0.44086	T	0.13	.	9.5371	0.39229	0.0:0.0854:0.0:0.9146	.	92	Q8IY92	SLX4_HUMAN	G	92	ENSP00000294008:R92G	ENSP00000294008:R92G	R	-	1	2	SLX4	3598693	0.819000	0.29175	0.177000	0.23020	0.750000	0.42670	0.731000	0.26058	0.971000	0.38288	0.533000	0.62120	AGG		0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	0	NM_032444		16:3658692
IRS4	8471	broad.mit.edu	37	X	107978822	107978822	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:107978822G>A	ENST00000372129.2	-	1	829	c.753C>T	c.(751-753)agC>agT	p.S251S	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	251	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGAACACGCCGCTCAGCTCTT	0.627																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(751-753)agC>agT		insulin receptor substrate 4							47.0	42.0	44.0					X																	107978822		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978822G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.753C>T	X.37:g.107978822G>A		False	False		Somatic	0					p.S251S	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	829	-			251			IRS-type PTB.			Silent	SNP	ENST00000372129.2	37	c.753C>T	CCDS14544.1																																																																																				0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107978822
CALCOCO2	10241	broad.mit.edu	37	17	46926637	46926637	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:46926637G>A	ENST00000258947.3	+	5	542	c.441G>A	c.(439-441)caG>caA	p.Q147Q	CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q|CALCOCO2_ENST00000509507.1_Silent_p.Q168Q	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	147					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGATTGAGCAGCACAACAAGG	0.468																																						ENST00000258947.3		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(439-441)caG>caA		calcium binding and coiled-coil domain 2							128.0	128.0	128.0					17																	46926637		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46926637G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.441G>A	17.37:g.46926637G>A		False	False		Somatic	0				CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q	p.Q147Q	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	WXS	Illumina HiSeq	Phase_I	Q13137	CACO2_HUMAN			5	542	+			147					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.441G>A	CCDS11538.1																																																																																				0.468	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	0	NM_005831		17:46926637
ZBTB26	57684	broad.mit.edu	37	9	125681305	125681305	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:125681305G>A	ENST00000373656.3	-	2	982	c.909C>T	c.(907-909)tgC>tgT	p.C303C	ZBTB26_ENST00000373654.1_Silent_p.C303C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGTCTTGCCGCAGAGTAGAC	0.458																																						ENST00000373656.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(907-909)tgC>tgT		zinc finger and BTB domain containing 26							84.0	80.0	81.0					9																	125681305		2203	4300	6503	SO:0001819	synonymous_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681305G>A	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.909C>T	9.37:g.125681305G>A		False	False		Somatic	0				ZBTB26_ENST00000373654.1_Silent_p.C303C	p.C303C	NM_020924.2	NP_065975.1	WXS	Illumina HiSeq	Phase_I	Q9HCK0	ZBT26_HUMAN			2	982	-			303					B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	c.909C>T	CCDS6847.1																																																																																				0.458	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	0	NM_020924		9:125681305
EGLN1	54583	broad.mit.edu	37	1	231557097	231557097	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:231557097G>A	ENST00000366641.3	-	1	3693	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				CCGTTGGGCCGCAGGCCGCCG	0.687																																						ENST00000366641.3		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(538-540)Cgg>Tgg		egl-9 family hypoxia-inducible factor 1	Vitamin C(DB00126)						9.0	9.0	9.0					1																	231557097		2106	4134	6240	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231557097G>A	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.538C>T	1.37:g.231557097G>A	ENSP00000355601:p.Arg180Trp	False	False		Somatic	0					p.R180W	NM_022051.2	NP_071334.1	WXS	Illumina HiSeq	Phase_I	Q9GZT9	EGLN1_HUMAN			1	3693	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	180						Missense_Mutation	SNP	ENST00000366641.3	37	c.538C>T	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352116	0.41700	.	.	ENSG00000135766	ENST00000366641	D	0.87256	-2.23	5.23	0.483	0.16820	.	0.411550	0.22376	N	0.060876	T	0.75968	0.3922	L	0.43923	1.385	0.25462	N	0.98791	B	0.32800	0.385	B	0.16289	0.015	T	0.67237	-0.5721	10	0.87932	D	0	-11.8165	5.589	0.17291	0.0734:0.1143:0.5506:0.2617	.	180	Q9GZT9	EGLN1_HUMAN	W	180	ENSP00000355601:R180W	ENSP00000355601:R180W	R	-	1	2	EGLN1	229623720	1.000000	0.71417	0.056000	0.19401	0.369000	0.29798	0.806000	0.27126	0.175000	0.19841	0.557000	0.71058	CGG		0.687	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	0	NM_022051		1:231557097
TRIM28	10155	broad.mit.edu	37	19	59057217	59057217	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:59057217G>A	ENST00000253024.5	+	3	829	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	180	RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGTAGAGGCGCACCAGCGGG	0.577																																						ENST00000253024.5		NA																	0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(538-540)gcG>gcA		tripartite motif containing 28							84.0	77.0	80.0					19																	59057217		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59057217G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.540G>A	19.37:g.59057217G>A		False	False		Somatic	0				TRIM28_ENST00000341753.6_Intron	p.A180A	NM_005762.2	NP_005753.1	WXS	Illumina HiSeq	Phase_I	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	829	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	180			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.540G>A	CCDS12985.1																																																																																				0.577	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	0	NM_005762		19:59057217
RNF25	64320	broad.mit.edu	37	2	219529962	219529962	+	Silent	SNP	G	G	A	rs200142823		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:219529962G>A	ENST00000295704.2	-	8	1022	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	194					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCACACCGACTGCCTTCT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17867	0.0		0.001	False		,,,				2504	0.0					ENST00000295704.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(580-582)gtC>gtT		ring finger protein 25							85.0	79.0	81.0					2																	219529962		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529962G>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.582C>T	2.37:g.219529962G>A		False	False		Somatic	0					p.V194V	NM_022453.2	NP_071898.2	WXS	Illumina HiSeq	Phase_I	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1022	-		Renal(207;0.0474)	194					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.582C>T	CCDS2420.1																																																																																				0.532	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	0	NM_022453		2:219529962
KIAA1045	23349	broad.mit.edu	37	9	34972446	34972446	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:34972446G>A	ENST00000242315.3	+	3	564	c.482G>A	c.(481-483)cGc>cAc	p.R161H	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	161							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCTGCGCCGCATGGGCTAC	0.577																																						ENST00000242315.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(481-483)cGc>cAc		KIAA1045							108.0	116.0	113.0					9																	34972446		2060	4209	6269	SO:0001583	missense	23349						calcium ion binding	g.chr9:34972446G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.482G>A	9.37:g.34972446G>A	ENSP00000242315:p.Arg161His	False	False		Somatic	0				KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H	p.R161H	NM_015297.1	NP_056112.1	WXS	Illumina HiSeq	Phase_I	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	564	+			161					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.482G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.706470	0.89018	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	4.84	0.62591	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.131353	0.53938	D	0.000049	T	0.51822	0.1697	M	0.62723	1.935	0.43304	D	0.995305	P	0.37141	0.584	B	0.29598	0.104	T	0.56195	-0.8019	9	0.51188	T	0.08	-11.7038	13.7849	0.63104	0.0733:0.0:0.9267:0.0	.	161	Q9UPV7	K1045_HUMAN	H	161	.	ENSP00000242315:R161H	R	+	2	0	KIAA1045	34962446	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.616000	0.67709	1.429000	0.47314	0.655000	0.94253	CGC		0.577	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	0	XM_048592		9:34972446
PGAM4	441531	broad.mit.edu	37	X	77224555	77224555	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224555G>A	ENST00000458128.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	194					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CACATGCTTGGCAATGCCCTG	0.517																																						ENST00000458128.1		NA																	0				endometrium(2)|lung(4)	6						c.(580-582)gCc>gTc		phosphoglycerate mutase family member 4							113.0	106.0	109.0					X																	77224555		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224555G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.581C>T	X.37:g.77224555G>A	ENSP00000412189:p.Ala194Val	False	False		Somatic	0				ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	p.A194V	NM_001029891.2	NP_001025062.1	WXS	Illumina HiSeq	Phase_I	Q8N0Y7	PGAM4_HUMAN			1	580	-			194					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.581C>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	0.437	-0.900331	0.02472	.	.	ENSG00000226784	ENST00000458128	T	0.79749	-1.3	0.119	-0.238	0.13055	.	0.073524	0.53938	N	0.000053	T	0.21509	0.0518	N	0.00002	-3.58	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.56517	-0.7966	9	.	.	.	-28.5563	3.8407	0.08912	0.6619:0.0:0.338:0.0	.	194	Q8N0Y7	PGAM4_HUMAN	V	194	ENSP00000412189:A194V	.	A	-	2	0	PGAM4	77111211	1.000000	0.71417	0.589000	0.28718	0.597000	0.36814	4.491000	0.60326	-0.870000	0.04047	-0.855000	0.03028	GCC		0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	0	NM_001029891		X:77224555
CHD1	1105	broad.mit.edu	37	5	98207791	98207791	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:98207791C>A	ENST00000284049.3	-	27	3974	c.3825G>T	c.(3823-3825)atG>atT	p.M1275I	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1275					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCATTTTAATCATTTCCCAGC	0.343																																						ENST00000284049.3		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3823-3825)atG>atT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						131.0	135.0	134.0					5																	98207791		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98207791C>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3825G>T	5.37:g.98207791C>A	ENSP00000284049:p.Met1275Ile	False	False		Somatic	0					p.M1275I	NM_001270.2	NP_001261.2	WXS	Illumina HiSeq	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	27	3974	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1275					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3825G>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969543	0.53614	.	.	ENSG00000153922	ENST00000284049	D	0.89270	-2.49	5.29	5.29	0.74685	.	0.000000	0.40469	U	0.001094	D	0.85435	0.5696	L	0.36672	1.1	0.80722	D	1	B	0.14805	0.011	B	0.06405	0.002	T	0.80324	-0.1430	10	0.46703	T	0.11	.	19.3012	0.94144	0.0:1.0:0.0:0.0	.	1275	O14646	CHD1_HUMAN	I	1275	ENSP00000284049:M1275I	ENSP00000284049:M1275I	M	-	3	0	CHD1	98235691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.822000	0.55708	2.653000	0.90120	0.650000	0.86243	ATG		0.343	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	0	NM_001270		5:98207791
SPEG	10290	broad.mit.edu	37	2	220341686	220341686	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:220341686G>A	ENST00000312358.7	+	19	4674	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1514	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCACTGCCGGACATCATGT	0.632																																						ENST00000312358.7		NA																	0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4540-4542)ccG>ccA		SPEG complex locus							61.0	67.0	65.0					2																	220341686		2084	4207	6291	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220341686G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4542G>A	2.37:g.220341686G>A		False	False		Somatic	0				SPEG_ENST00000485813.1_3'UTR	p.P1514P	NM_005876.4	NP_005867.3	WXS	Illumina HiSeq	Phase_I	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	19	4674	+		Renal(207;0.0183)	1514			Ig-like 8.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4542G>A	CCDS42824.1																																																																																				0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	0	NM_005876		2:220341686
KRTAP17-1	83902	broad.mit.edu	37	17	39471774	39471774	+	Silent	SNP	G	G	A	rs368577794|rs386797077		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:39471774G>A	ENST00000334202.3	-	1	173	c.129C>T	c.(127-129)tgC>tgT	p.C43C		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	43						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cagagcccccgcagccagagc	0.692													A|||	1	0.000199681	0.0008	0.0	5008	,	,		9728	0.0		0.0	False		,,,				2504	0.0					ENST00000334202.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(127-129)tgC>tgT		keratin associated protein 17-1							9.0	13.0	12.0					17																	39471774		2166	4238	6404	SO:0001819	synonymous_variant	83902					intermediate filament		g.chr17:39471774G>A	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.129C>T	17.37:g.39471774G>A		True	False		Somatic	0					p.C43C	NM_031964.1	NP_114170.1	WXS	Illumina HiSeq	Phase_I	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	173	-		Breast(137;0.000496)	43						Silent	SNP	ENST00000334202.3	37	c.129C>T	CCDS11387.1																																																																																				0.692	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1	0			17:39471774
RNF181	51255	broad.mit.edu	37	2	85824016	85824016	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:85824016C>T	ENST00000306368.4	+	3	319	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	RNF181_ENST00000441634.1_Missense_Mutation_p.L97F	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	97					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TTGCCATCACCTTTTCCATTC	0.522																																						ENST00000441634.1		NA																	0				lung(1)|stomach(1)	2						c.(289-291)Ctt>Ttt		ring finger protein 181							201.0	188.0	192.0					2																	85824016		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85824016C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.289C>T	2.37:g.85824016C>T	ENSP00000306906:p.Leu97Phe	True	False		Somatic	0				RNF181_ENST00000306368.4_Missense_Mutation_p.L97F	p.L97F			WXS	Illumina HiSeq	Phase_I	Q9P0P0	RN181_HUMAN			3	328	+			97					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.289C>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466170	0.43839	.	.	ENSG00000168894	ENST00000441634;ENST00000306368	T;T	0.44482	0.92;0.92	5.75	4.88	0.63580	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.059226	0.64402	N	0.000002	T	0.23965	0.0580	N	0.11106	0.095	0.54753	D	0.999988	B	0.16603	0.018	B	0.21917	0.037	T	0.06716	-1.0811	10	0.14252	T	0.57	.	12.4863	0.55874	0.0:0.9193:0.0:0.0807	.	97	Q9P0P0	RN181_HUMAN	F	97	ENSP00000412025:L97F;ENSP00000306906:L97F	ENSP00000306906:L97F	L	+	1	0	RNF181	85677527	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	1.548000	0.36201	1.432000	0.47375	0.655000	0.94253	CTT		0.522	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	0	NM_016494		2:85824016
MYH11	4629	broad.mit.edu	37	16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:15865513G>A	ENST00000300036.5	-	9	1055	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	MYH11_ENST00000576790.2_Missense_Mutation_p.P316S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517			T	CBFB	AML																																	ENST00000452625.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(967-969)Ccc>Tcc		myosin, heavy chain 11, smooth muscle							118.0	97.0	104.0					16																	15865513		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865513G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.946C>T	16.37:g.15865513G>A	ENSP00000300036:p.Pro316Ser	True	False		Somatic	0				MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S	p.P323S	NM_001040113.1	NP_001035202.1	WXS	Illumina HiSeq	Phase_I	P35749	MYH11_HUMAN			10	1054	-			316			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.967C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854428	0.51376	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.148440	0.47852	D	0.000204	T	0.75642	0.3877	N	0.04335	-0.225	0.52501	D	0.999951	B;B;B;B;B;B	0.10296	0.0;0.001;0.001;0.001;0.001;0.003	B;B;B;B;B;B	0.17098	0.007;0.017;0.017;0.017;0.017;0.017	T	0.69774	-0.5054	10	0.30854	T	0.27	.	17.7989	0.88580	0.0:0.0:1.0:0.0	.	323;316;316;323;316;323	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	316;316;323;323;323	ENSP00000300036:P316S;ENSP00000345136:P316S;ENSP00000379616:P323S;ENSP00000407821:P323S	ENSP00000300036:P316S	P	-	1	0	MYH11	15773014	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.491000	0.53252	2.538000	0.85594	0.561000	0.74099	CCC		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	0	NM_001040113		16:15865513
LLGL2	3993	broad.mit.edu	37	17	73567098	73567098	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:73567098G>A	ENST00000392550.3	+	17	2210	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	698					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGTGCAGCGCAAGATCGAG	0.642																																						ENST00000392550.3		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2092-2094)cGc>cAc		lethal giant larvae homolog 2 (Drosophila)							67.0	74.0	71.0					17																	73567098		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567098G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2093G>A	17.37:g.73567098G>A	ENSP00000376333:p.Arg698His	False	False		Somatic	0				LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H	p.R698H	NM_001031803.1	NP_001026973.1	WXS	Illumina HiSeq	Phase_I	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		17	2210	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		698					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2093G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846873	0.51164	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.55413	0.52;0.52	5.0	4.01	0.46588	.	0.046387	0.85682	D	0.000000	T	0.74183	0.3683	M	0.83774	2.66	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.999;0.999;0.999	T	0.79369	-0.1832	10	0.87932	D	0	-1.0435	15.2325	0.73401	0.0:0.1412:0.8588:0.0	.	325;687;687;698;698	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	698;698;687	ENSP00000167462:R698H;ENSP00000376333:R698H	ENSP00000167462:R698H	R	+	2	0	LLGL2	71078693	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	9.807000	0.99171	1.076000	0.40961	0.555000	0.69702	CGC		0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	0	NM_004524		17:73567098
GRIN2A	2903	broad.mit.edu	37	16	10274159	10274159	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:10274159G>A	ENST00000396573.2	-	3	419	c.110C>T	c.(109-111)gCg>gTg	p.A37V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	37					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGCATCACCGCAATATTTAG	0.692																																						ENST00000396573.2		NA																	0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(109-111)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						33.0	38.0	36.0					16																	10274159		2196	4296	6492	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274159G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.110C>T	16.37:g.10274159G>A	ENSP00000379818:p.Ala37Val	False	False		Somatic	0				GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V	p.A37V	NM_000833.3	NP_000824.1	WXS	Illumina HiSeq	Phase_I	Q12879	NMDE1_HUMAN			3	419	-			37					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.110C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	37	6.015957	0.97205	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.54	4.54	0.55810	.	0.140584	0.45361	N	0.000378	D	0.91439	0.7298	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.85130	0.997;0.87;0.983	D	0.91038	0.4869	9	.	.	.	.	16.2901	0.82747	0.0:0.0:1.0:0.0	.	37;37;37	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	37	ENSP00000379818:A37V;ENSP00000385872:A37V;ENSP00000332549:A37V;ENSP00000379820:A37V	.	A	-	2	0	GRIN2A	10181660	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.557000	0.98129	2.088000	0.63022	0.561000	0.74099	GCG		0.692	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	0			16:10274159
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423																																						ENST00000317096.4		NA																	1	Substitution - coding silent(1)	p.Y348Y(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		presenilin associated, rhomboid-like							123.0	127.0	126.0					3																	183547482		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547482G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A		True	False		Somatic	0				PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	p.Y348Y	NM_018622.5	NP_061092.3	WXS	Illumina HiSeq	Phase_I	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1104	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		348					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1044C>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	0	NM_018622		3:183547482
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3		NA																	0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A		False	False		Somatic	0				SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	WXS	Illumina HiSeq	Phase_I	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	0	NM_018225		9:33068870
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:43763169G>A	ENST00000270077.3	-	4	924	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Silent_p.N183N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473																																						ENST00000418820.2		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(547-549)aaC>aaT		pregnancy specific beta-1-glycoprotein 9		A		2,4298		0,2,2148	220.0	231.0	227.0		828	-2.8	0.0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG		0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763169G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.828C>T	19.37:g.43763169G>A		True	False		Somatic	0				PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron	p.N183N			WXS	Illumina HiSeq	Phase_I	Q00887	PSG9_HUMAN			3	647	-		Prostate(69;0.00682)	183			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.549C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	0	NM_002784		19:43763169
RLN2	6019	broad.mit.edu	37	9	5304440	5304440	+	Silent	SNP	G	G	A	rs544671340		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41.0	42.0	42.0					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A		False	False		Somatic	0				RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	WXS	Illumina HiSeq	Phase_I	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	0	NM_134441		9:5304440
AGO1	26523	broad.mit.edu	37	1	36354142	36354142	+	Missense_Mutation	SNP	T	T	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36354142T>A	ENST00000373204.4	+	2	353	c.140T>A	c.(139-141)aTc>aAc	p.I47N	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	47					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAGGTGGACATCCCTAAGATC	0.562																																						ENST00000373204.4		NA																	0					NA						c.(139-141)aTc>aAc		argonaute RISC catalytic component 1							106.0	99.0	102.0					1																	36354142		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36354142T>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.140T>A	1.37:g.36354142T>A	ENSP00000362300:p.Ile47Asn	True	False		Somatic	0				AGO1_ENST00000373206.1_5'UTR	p.I47N	NM_012199.2	NP_036331.1	WXS	Illumina HiSeq	Phase_I					2	353	+			NA					Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.140T>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951669	0.92660	.	.	ENSG00000092847	ENST00000373204	T	0.09911	2.93	5.6	5.6	0.85130	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.85630	2.765	0.80722	D	1	P	0.49090	0.919	P	0.60345	0.873	T	0.20940	-1.0260	10	0.87932	D	0	-11.7092	16.0773	0.80976	0.0:0.0:0.0:1.0	.	47	Q9UL18	AGO1_HUMAN	N	47	ENSP00000362300:I47N	ENSP00000362300:I47N	I	+	2	0	EIF2C1	36126729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.482000	0.46254	ATC		0.562	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3	0			1:36354142
IRS1	3667	broad.mit.edu	37	2	227662683	227662683	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227662683G>A	ENST00000305123.5	-	1	1792	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	258	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCATGGCCCGCATGGCCTCC	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.5		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(772-774)Cgg>Tgg		insulin receptor substrate 1							74.0	80.0	78.0					2																	227662683		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662683G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.772C>T	2.37:g.227662683G>A	ENSP00000304895:p.Arg258Trp	True	False		Somatic	0	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R258W	NM_005544.2	NP_005535.1	WXS	Illumina HiSeq	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1792	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	NA			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.772C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310295	0.60414	.	.	ENSG00000169047	ENST00000305123	T	0.47177	0.85	5.79	2.9	0.33743	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.117936	0.39146	N	0.001442	T	0.55800	0.1943	L	0.34521	1.04	0.47214	D	0.999354	D	0.89917	1.0	D	0.66716	0.946	T	0.57785	-0.7751	10	0.87932	D	0	-30.8633	14.6021	0.68447	0.0:0.0:0.4974:0.5026	.	258	P35568	IRS1_HUMAN	W	258	ENSP00000304895:R258W	ENSP00000304895:R258W	R	-	1	2	IRS1	227370927	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.388000	0.44398	0.306000	0.22856	0.561000	0.74099	CGG		0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	0	NM_005544		2:227662683
MED1	5469	broad.mit.edu	37	17	37564496	37564496	+	Silent	SNP	G	G	A	rs569240327		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:37564496G>A	ENST00000300651.6	-	17	4201	c.3978C>T	c.(3976-3978)gaC>gaT	p.D1326D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATCTGGCCGTCCAGTGGGT	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6		NA																	0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3976-3978)gaC>gaT		mediator complex subunit 1							85.0	93.0	90.0					17																	37564496		2203	4299	6502	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564496G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3978C>T	17.37:g.37564496G>A		False	False	HNSCC(31;0.082)	Somatic	0				MED1_ENST00000394287.3_Intron	p.D1326D	NM_004774.3	NP_004765.2	WXS	Illumina HiSeq	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4201	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1326			Interaction with TP53.|Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3978C>T	CCDS11336.1																																																																																				0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	0	NM_004774		17:37564496
XRCC6	2547	broad.mit.edu	37	22	42018069	42018069	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:42018069G>A	ENST00000359308.4	+	1	716	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|DESI1_ENST00000263256.6_5'Flank|XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K|XRCC6_ENST00000428575.2_5'UTR			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	21	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAGAACAAGAAGAGAACCT	0.483								Non-homologous end-joining																														ENST00000359308.4		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(61-63)Gaa>Aaa	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							217.0	185.0	196.0					22																	42018069		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42018069G>A	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.61G>A	22.37:g.42018069G>A	ENSP00000352257:p.Glu21Lys	False	False		Somatic	0				XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K|XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K	p.E21K			WXS	Illumina HiSeq	Phase_I	P12956	XRCC6_HUMAN			1	716	+			21			Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.61G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350682	0.82132	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409	.	.	.	5.36	4.33	0.51752	.	0.457363	0.21898	N	0.067499	T	0.58148	0.2102	M	0.61703	1.905	0.80722	D	1	B;B;B	0.16166	0.016;0.01;0.01	B;B;B	0.14578	0.011;0.007;0.007	T	0.53885	-0.8375	9	0.24483	T	0.36	-1.1576	13.523	0.61578	0.0:0.1562:0.8438:0.0	.	21;21;21	B1AHC7;B1AHC8;P12956	.;.;XRCC6_HUMAN	K	21	.	ENSP00000352257:E21K	E	+	1	0	XRCC6	40348015	0.996000	0.38824	0.051000	0.19133	0.208000	0.24298	2.401000	0.44513	1.229000	0.43630	0.655000	0.94253	GAA		0.483	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	0	NM_001469		22:42018069
PTGFR	5737	broad.mit.edu	37	1	79002208	79002208	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:79002208C>A	ENST00000370757.3	+	3	1153	c.916C>A	c.(916-918)Ctt>Att	p.L306I	PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	306					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGTATATATTCTTCTACGAAA	0.388																																						ENST00000370757.3		NA																	0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(916-918)Ctt>Att		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						131.0	134.0	133.0					1																	79002208		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002208C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.916C>A	1.37:g.79002208C>A	ENSP00000359793:p.Leu306Ile	False	False		Somatic	0				PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I|PTGFR_ENST00000370756.3_3'UTR	p.L306I	NM_000959.3	NP_000950.1	WXS	Illumina HiSeq	Phase_I	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1153	+			306					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.916C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743931	0.89663	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.65498	2.005	0.52501	D	0.999954	D	0.76494	0.999	D	0.78314	0.991	T	0.57551	-0.7792	10	0.54805	T	0.06	-21.887	20.1454	0.98074	0.0:1.0:0.0:0.0	.	306	P43088	PF2R_HUMAN	I	306	ENSP00000359794:L306I;ENSP00000359793:L306I	ENSP00000359793:L306I	L	+	1	0	PTGFR	78774796	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.903000	0.69877	2.840000	0.97914	0.655000	0.94253	CTT		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	0	NM_000959		1:79002208
CSPG4	1464	broad.mit.edu	37	15	75982078	75982078	+	Missense_Mutation	SNP	C	C	T	rs138382756		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:75982078C>T	ENST00000308508.5	-	3	1420	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	443	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCAGGCTGTGCCCCCCTCGGC	0.642																																						ENST00000308508.5		NA																	0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1327-1329)gGc>gAc		chondroitin sulfate proteoglycan 4							46.0	45.0	45.0					15																	75982078		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982078C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1328G>A	15.37:g.75982078C>T	ENSP00000312506:p.Gly443Asp	True	False		Somatic	0					p.G443D	NM_001897.4	NP_001888.2	WXS	Illumina HiSeq	Phase_I	Q6UVK1	CSPG4_HUMAN			3	1420	-			443			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1328G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.433402	0.83776	.	.	ENSG00000173546	ENST00000308508	T	0.32753	1.44	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.58793	0.2147	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62627	-0.6814	10	0.62326	D	0.03	.	17.856	0.88762	0.0:1.0:0.0:0.0	.	443	Q6UVK1	CSPG4_HUMAN	D	443	ENSP00000312506:G443D	ENSP00000312506:G443D	G	-	2	0	CSPG4	73769133	1.000000	0.71417	0.940000	0.37924	0.798000	0.45092	4.677000	0.61634	2.463000	0.83235	0.555000	0.69702	GGC		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	NM_001897		15:75982078
RXRB	6257	broad.mit.edu	37	6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622																																						ENST00000374680.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(601-603)gGc>gAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						123.0	144.0	136.0					6																	33166123		1508	2707	4215	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33166123C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.602G>A	6.37:g.33166123C>T	ENSP00000363812:p.Gly201Asp	False	False		Somatic	0				RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D	p.G201D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	WXS	Illumina HiSeq	Phase_I	P28702	RXRB_HUMAN			3	813	-			201			Modulating (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.602G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864280	0.51482	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.93189	-3.16;-3.16;-3.18;-3.0	5.11	5.11	0.69529	.	0.376195	0.30649	N	0.009176	D	0.91553	0.7332	N	0.19112	0.55	0.43187	D	0.995017	D;D;D;B;B;P;P;P	0.69078	0.997;0.988;0.995;0.04;0.305;0.737;0.92;0.737	D;P;P;B;B;B;B;B	0.63597	0.916;0.837;0.72;0.045;0.109;0.22;0.345;0.22	D	0.92106	0.5692	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	105;201;84;11;201;201;241;201	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	D	201;201;11;105	ENSP00000363817:G201D;ENSP00000363812:G201D;ENSP00000439222:G11D;ENSP00000415561:G105D	ENSP00000363812:G201D	G	-	2	0	RXRB	33274101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.205000	0.42770	2.644000	0.89710	0.549000	0.68633	GGC		0.622	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	0	NM_021976		6:33166123
FUBP3	8939	broad.mit.edu	37	9	133499056	133499056	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:133499056G>A	ENST00000319725.9	+	11	1008	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	311	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATCGGTGTCAGCATGCAGCGC	0.547																																						ENST00000319725.9		NA																	0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(931-933)caG>caA		far upstream element (FUSE) binding protein 3							99.0	102.0	101.0					9																	133499056		2031	4205	6236	SO:0001819	synonymous_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133499056G>A	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.933G>A	9.37:g.133499056G>A		False	False		Somatic	0					p.Q311Q	NM_003934.1	NP_003925.1	WXS	Illumina HiSeq	Phase_I	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	11	1008	+			311			KH 3.		A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.933G>A	CCDS43893.1																																																																																				0.547	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1	0			9:133499056
RAB11FIP1	80223	broad.mit.edu	37	8	37732058	37732058	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:37732058G>A	ENST00000330843.4	-	3	1609	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	533					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGGTCTGGGGAGCCCTCGGA	0.542																																						ENST00000330843.4		NA																	0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1597-1599)Ccc>Tcc		RAB11 family interacting protein 1 (class I)							60.0	59.0	59.0					8																	37732058		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732058G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1597C>T	8.37:g.37732058G>A	ENSP00000331342:p.Pro533Ser	True	False		Somatic	0				RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S	p.P533S	NM_001002814.2	NP_001002814.2	WXS	Illumina HiSeq	Phase_I	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1609	-		Lung NSC(58;0.118)|all_lung(54;0.195)	533					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1597C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937277	0.52972	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31247	2.24;2.1;1.51;1.5	5.03	4.14	0.48551	.	0.408600	0.23672	N	0.045718	T	0.16300	0.0392	L	0.32530	0.975	0.19300	N	0.999972	B;B;P;P	0.38148	0.068;0.194;0.617;0.62	B;B;B;B	0.33960	0.009;0.066;0.173;0.138	T	0.10428	-1.0630	10	0.12766	T	0.61	-6.1245	4.077	0.09909	0.0874:0.1748:0.5807:0.1571	.	385;385;533;533	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	533;533;385;385	ENSP00000287263:P533S;ENSP00000331342:P533S;ENSP00000430009:P385S;ENSP00000430680:P385S	ENSP00000287263:P533S	P	-	1	0	RAB11FIP1	37851216	0.984000	0.35163	0.794000	0.32065	0.871000	0.50021	2.561000	0.45905	1.071000	0.40834	0.655000	0.94253	CCC		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	0	NM_025151		8:37732058
U2AF2	11338	broad.mit.edu	37	19	56185361	56185361	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:56185361G>A	ENST00000308924.4	+	12	1395	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	U2AF2_ENST00000450554.2_Missense_Mutation_p.R448H|CTD-2537I9.13_ENST00000592252.1_RNA|EPN1_ENST00000085079.7_5'Flank|EPN1_ENST00000411543.2_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H|EPN1_ENST00000270460.6_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	452	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACGGGCCGCAAGTTCGCC	0.577																																						ENST00000450554.2		NA																	0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1342-1344)cGc>cAc		U2 small nuclear RNA auxiliary factor 2							83.0	81.0	82.0					19																	56185361		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56185361G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1355G>A	19.37:g.56185361G>A	ENSP00000307863:p.Arg452His	False	False		Somatic	0				U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.R452H|CTD-2537I9.12_ENST00000589456.1_RNA	p.R448H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	WXS	Illumina HiSeq	Phase_I	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	12	2302	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	452			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1343G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397206	0.96009	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.16743	2.32;2.32	4.42	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.56963	0.2021	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74518	-0.3639	10	0.87932	D	0	-18.4012	16.161	0.81712	0.0:0.0:1.0:0.0	.	452;448	P26368;P26368-2	U2AF2_HUMAN;.	H	452;448	ENSP00000307863:R452H;ENSP00000388475:R448H	ENSP00000307863:R452H	R	+	2	0	U2AF2	60877173	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.751000	0.91628	2.173000	0.68751	0.478000	0.44815	CGC		0.577	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	0	NM_007279		19:56185361
GRIK2	2898	broad.mit.edu	37	6	102134137	102134137	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:102134137C>T	ENST00000421544.1	+	6	1350	c.860C>T	c.(859-861)aCc>aTc	p.T287I	GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000369138.1_Missense_Mutation_p.T287I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	287					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAGAAAATACCCAAGTCTCC	0.423																																						ENST00000369138.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(859-861)aCc>aTc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						95.0	94.0	94.0					6																	102134137		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102134137C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.860C>T	6.37:g.102134137C>T	ENSP00000397026:p.Thr287Ile	True	False		Somatic	0				GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T287I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I	p.T287I	NM_001166247.1	NP_001159719.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	6	1350	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	287					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.860C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092200	0.36952	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.84	4.03	0.46877	Extracellular ligand-binding receptor (1);	0.157085	0.53938	D	0.000043	T	0.47857	0.1468	N	0.04508	-0.205	0.26912	N	0.966869	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49082	-0.8976	10	0.66056	D	0.02	.	10.6595	0.45694	0.0:0.6482:0.2676:0.0843	.	287;287;287	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	287;287;287;287;287;287;287;238;249	ENSP00000397026:T287I;ENSP00000405596:T287I;ENSP00000358134:T287I;ENSP00000351128:T287I;ENSP00000358133:T287I;ENSP00000313276:T287I;ENSP00000358130:T238I	ENSP00000313276:T287I	T	+	2	0	GRIK2	102240830	0.997000	0.39634	0.911000	0.35937	0.907000	0.53573	2.346000	0.44027	1.471000	0.48121	0.655000	0.94253	ACC		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102134137
BRWD1	54014	broad.mit.edu	37	21	40630429	40630429	+	Silent	SNP	T	T	C			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr21:40630429T>C	ENST00000333229.2	-	18	2382	c.2055A>G	c.(2053-2055)gaA>gaG	p.E685E	BRWD1_ENST00000380800.3_Silent_p.E685E|BRWD1_ENST00000342449.3_Silent_p.E685E	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	685					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGGGTGTTTCTTCACCATTTG	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3		NA																	0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2053-2055)gaA>gaG		bromodomain and WD repeat domain containing 1							197.0	193.0	195.0					21																	40630429		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630429T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2055A>G	21.37:g.40630429T>C		False	False		Somatic	0				BRWD1_ENST00000333229.2_Silent_p.E685E|BRWD1_ENST00000380800.3_Silent_p.E685E	p.E685E	NM_033656.3	NP_387505.1	WXS	Illumina HiSeq	Phase_I	Q9NSI6	BRWD1_HUMAN			18	2133	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	685					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.2055A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	4.863	0.160340	0.09287	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.46	1.8	0.24995	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48031	-0.9070	4	.	.	.	-13.145	8.7115	0.34387	0.0:0.2966:0.0:0.7034	.	.	.	.	G	397	.	.	R	-	1	2	BRWD1	39552299	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	1.633000	0.37113	0.075000	0.16796	0.533000	0.62120	AGA		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	NM_033656		21:40630429
NEK6	10783	broad.mit.edu	37	9	127089667	127089667	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:127089667G>A	ENST00000320246.5	+	7	710	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	NEK6_ENST00000373600.3_Missense_Mutation_p.G223S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CGTGAAGCTCGGTGACCTTGG	0.632																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(667-669)Ggt>Agt		NIMA-related kinase 6							243.0	214.0	224.0					9																	127089667		2203	4300	6503	SO:0001583	missense	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127089667G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.565G>A	9.37:g.127089667G>A	ENSP00000319734:p.Gly189Ser	False	False		Somatic	0				NEK6_ENST00000320246.5_Missense_Mutation_p.G189S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S|NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S	p.G223S	NM_001145001.2	NP_001138473.1	WXS	Illumina HiSeq	Phase_I	Q9HC98	NEK6_HUMAN			8	882	+			189			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	c.667G>A	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991746	0.97179	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	3.21;3.21;3.21;3.21;3.21;1.9;1.15;3.21;1.9;3.21;3.21;1.9;3.21	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.997;0.998	T	0.56189	-0.8020	10	0.87932	D	0	.	19.3735	0.94500	0.0:0.0:1.0:0.0	.	214;223;189;207	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	S	189;207;223;189;121;189;189;121;189;189;223;189;189;214	ENSP00000362705:G189S;ENSP00000441469:G207S;ENSP00000362702:G223S;ENSP00000319734:G189S;ENSP00000442636:G189S;ENSP00000389517:G189S;ENSP00000405215:G121S;ENSP00000362698:G189S;ENSP00000403087:G189S;ENSP00000377749:G223S;ENSP00000441426:G189S;ENSP00000411401:G189S;ENSP00000439651:G214S	ENSP00000319734:G189S	G	+	1	0	NEK6	126129488	1.000000	0.71417	0.651000	0.29564	0.949000	0.60115	9.274000	0.95731	2.825000	0.97269	0.655000	0.94253	GGT		0.632	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	0	NM_014397		9:127089667
CA12	771	broad.mit.edu	37	15	63632565	63632565	+	Silent	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:63632565C>A	ENST00000178638.3	-	7	1109	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CA12_ENST00000422263.2_Silent_p.G163G|CA12_ENST00000344366.3_Silent_p.G223G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	223					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGGTCAGGGACCCCCGGTAGC	0.562																																						ENST00000178638.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(667-669)ggG>ggT		carbonic anhydrase XII	Acetazolamide(DB00819)						77.0	73.0	75.0					15																	63632565		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632565C>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.669G>T	15.37:g.63632565C>A		True	False		Somatic	0				CA12_ENST00000344366.3_Silent_p.G223G|CA12_ENST00000422263.2_Silent_p.G163G	p.G223G	NM_001218.3	NP_001209.1	WXS	Illumina HiSeq	Phase_I	O43570	CAH12_HUMAN			7	1109	-			223					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.669G>T	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	0	NM_001218		15:63632565
DMD	1756	broad.mit.edu	37	X	31222081	31222081	+	Silent	SNP	T	T	C	rs12690372	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:31222081T>C	ENST00000357033.4	-	67	10010	c.9804A>G	c.(9802-9804)caA>caG	p.Q3268Q	DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000343523.2_Silent_p.Q808Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3268	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTACAAATTGGAAGCAGC	0.383																																						ENST00000357033.4		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9802-9804)caA>caG		dystrophin		T	,,,,,,,,,,,,,,,,,	2,3831		0,2,1629,571	58.0	51.0	53.0		9780,9804,9435,9792,9435,5781,5772,2424,1617,600,600,600,600,600,2424,2424,2424,2424	-7.0	0.6	X	dbSNP_120	53	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004019.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	,,,,,,,,,,,,,,,,,	0,2,4057,2443	CC,CT,TT,T		0.0,0.0522,0.0189	,,,,,,,,,,,,,,,,,	3260/3678,3268/3686,3145/3563,3264/3682,3145/3563,1927/2345,1924/2342,808/1226,539/957,200/618,200/636,200/605,200/623,200/341,808/1116,808/1244,808/1231,808/1134	31222081	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31222081T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9804A>G	X.37:g.31222081T>C		True	False		Somatic	0				DMD_ENST00000343523.2_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q	p.Q3268Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina HiSeq	Phase_I	P11532	DMD_HUMAN			67	10010	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3268			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.9804A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	9.064	0.995258	0.19043	5.22E-4	0.0	ENSG00000198947	ENST00000465285	.	.	.	5.11	-6.97	0.01616	.	.	.	.	.	T	0.62221	0.2410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66196	-0.5984	4	.	.	.	.	15.5819	0.76448	0.1098:0.7325:0.0:0.1577	rs12690372;rs12690372	.	.	.	V	997	.	.	I	-	1	0	DMD	31132002	0.975000	0.34042	0.629000	0.29254	0.985000	0.73830	0.181000	0.16880	-2.089000	0.00860	-0.323000	0.08544	ATT		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	NM_004006		X:31222081
UBR3	130507	broad.mit.edu	37	2	170814986	170814986	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:170814986C>T	ENST00000272793.5	+	24	3634	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1195					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAATTGCTTGCGGAGTTTGCT	0.348																																						ENST00000272793.5		NA																	0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3583-3585)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							103.0	111.0	108.0					2																	170814986		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170814986C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3584C>T	2.37:g.170814986C>T	ENSP00000272793:p.Ala1195Val	True	False		Somatic	0				UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V	p.A1195V			WXS	Illumina HiSeq	Phase_I	Q6ZT12	UBR3_HUMAN			24	3634	+			1195					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3584C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.812118|5.812118	0.96975|0.96975	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.57595|.	0.39;0.39|.	6.15|6.15	6.15|6.15	0.99193|0.99193	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81842|0.81842	0.4908|0.4908	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.986|.	T|T	0.79642|0.79642	-0.1718|-0.1718	10|5	0.59425|.	D|.	0.04|.	.|.	20.8387|20.8387	0.99724|0.99724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1195;1195|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	V|W	1195|253	ENSP00000272793:A1195V;ENSP00000396068:A1195V|.	ENSP00000272793:A1195V|.	A|R	+|+	2|1	0|2	UBR3|UBR3	170523232|170523232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.786000|7.786000	0.85741|0.85741	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.348	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	0	NM_172070		2:170814986
PI4KA	5297	broad.mit.edu	37	22	21161674	21161674	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:21161674G>A	ENST00000572273.1	-	10	1200	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	PI4KA_ENST00000255882.6_Missense_Mutation_p.R382C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	324					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGAGTGTCACGCAGCATCTTG	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6		NA																	0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(1144-1146)Cgt>Tgt		phosphatidylinositol 4-kinase, catalytic, alpha							193.0	133.0	153.0					22																	21161674		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21161674G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.970C>T	22.37:g.21161674G>A	ENSP00000458238:p.Arg324Cys	False	False		Somatic	0				PI4KA_ENST00000572273.1_Missense_Mutation_p.R324C	p.R382C	NM_058004.3	NP_477352.3	WXS	Illumina HiSeq	Phase_I	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		10	1230	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	324					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1144C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.939393	0.73557	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	1.8	0.24995	.	0.102520	0.64402	D	0.000005	T	0.69378	0.3104	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.69124	-0.5228	9	0.87932	D	0	-3.9646	7.1937	0.25841	0.0867:0.0:0.3995:0.5138	.	382;324	D3DX33;P42356	.;PI4KA_HUMAN	C	324	.	ENSP00000255882:R324C	R	-	1	0	PI4KA	19491674	1.000000	0.71417	0.511000	0.27724	0.941000	0.58515	3.750000	0.55157	0.776000	0.33473	-0.136000	0.14681	CGT		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_058004		22:21161674
ZIC1	7545	broad.mit.edu	37	3	147128819	147128819	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:147128819C>A	ENST00000282928.4	+	1	1649	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	307					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCCCCTTCCCTGGCTGTGGC	0.572																																						ENST00000282928.4		NA																	0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(919-921)cCt>cAt		Zic family member 1							72.0	76.0	75.0					3																	147128819		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128819C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.920C>A	3.37:g.147128819C>A	ENSP00000282928:p.Pro307His	True	False		Somatic	0					p.P307H	NM_003412.3	NP_003403.2	WXS	Illumina HiSeq	Phase_I	Q15915	ZIC1_HUMAN			1	1649	+			307					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.920C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898249	0.72639	.	.	ENSG00000152977	ENST00000282928	D	0.91237	-2.81	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	L	0.49350	1.555	0.80722	D	1	D	0.58970	0.984	D	0.71414	0.973	D	0.93988	0.7264	10	0.59425	D	0.04	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	307	Q15915	ZIC1_HUMAN	H	307	ENSP00000282928:P307H	ENSP00000282928:P307H	P	+	2	0	ZIC1	148611509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	CCT		0.572	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	0	NM_003412		3:147128819
CD6	923	broad.mit.edu	37	11	60778547	60778547	+	Silent	SNP	C	C	A	rs145393446		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:60778547C>A	ENST00000313421.7	+	6	1276	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000346437.4_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	364					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GACAGCTTCCCGGAGTTTGCA	0.512																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7		NA																	0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1090-1092)Cgg>Agg		CD6 molecule							189.0	146.0	161.0					11																	60778547		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60778547C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1090C>A	11.37:g.60778547C>A		True	False		Somatic	0				CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.R364R	p.R364R	NM_006725.4	NP_006716.3	WXS	Illumina HiSeq	Phase_I	P30203	CD6_HUMAN			6	1276	+			364					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1090C>A	CCDS7999.1																																																																																				0.512	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	0	NM_006725		11:60778547
CX3CL1	6376	broad.mit.edu	37	16	57415974	57415974	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:57415974C>T	ENST00000006053.6	+	3	335	c.224C>T	c.(223-225)gCc>gTc	p.A75V	CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A37V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	75	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGTTCTGTGCCGACCCGAAG	0.602																																						ENST00000565912.1		NA																	0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(109-111)gCc>gTc		chemokine (C-X3-C motif) ligand 1							65.0	65.0	65.0					16																	57415974		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57415974C>T	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.224C>T	16.37:g.57415974C>T	ENSP00000006053:p.Ala75Val	False	False		Somatic	0				CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.A75V	p.A37V			WXS	Illumina HiSeq	Phase_I	P78423	X3CL1_HUMAN			2	2816	+			75			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.110C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392360	0.62066	.	.	ENSG00000006210	ENST00000006053	T	0.05580	3.42	5.45	5.45	0.79879	Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000012	T	0.27169	0.0666	M	0.81682	2.555	0.41670	D	0.989234	D	0.89917	1.0	D	0.91635	0.999	T	0.00992	-1.1488	10	0.87932	D	0	-33.9119	14.8416	0.70230	0.0:1.0:0.0:0.0	.	75	P78423	X3CL1_HUMAN	V	75	ENSP00000006053:A75V	ENSP00000006053:A75V	A	+	2	0	CX3CL1	55973475	0.995000	0.38212	0.953000	0.39169	0.012000	0.07955	3.478000	0.53158	2.560000	0.86352	0.555000	0.69702	GCC		0.602	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	0	NM_002996		16:57415974
F5	2153	broad.mit.edu	37	1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:169510405C>A	ENST00000367797.3	-	13	4124	c.3923G>T	c.(3922-3924)aGt>aTt	p.S1308I	F5_ENST00000367796.3_Missense_Mutation_p.S1313I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3937-3939)aGt>aTt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						272.0	296.0	288.0					1																	169510405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510405C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3923G>T	1.37:g.169510405C>A	ENSP00000356771:p.Ser1308Ile	True	False		Somatic	0				F5_ENST00000367797.3_Missense_Mutation_p.S1308I	p.S1313I			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			13	4139	-	all_hematologic(923;0.208)		1308			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3938G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169510405
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	0	XM_929931		2:107049681
CDCP1	64866	broad.mit.edu	37	3	45159953	45159953	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:45159953G>A	ENST00000296129.1	-	2	377	c.243C>T	c.(241-243)agC>agT	p.S81S	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Silent_p.S81S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	81						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GACTCTGGCAGCTAAAGGTAA	0.393																																						ENST00000296129.1		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(241-243)agC>agT		CUB domain containing protein 1							116.0	117.0	116.0					3																	45159953		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45159953G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.243C>T	3.37:g.45159953G>A		False	False		Somatic	0				CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR	p.S81S	NM_022842.3	NP_073753.3	WXS	Illumina HiSeq	Phase_I	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	377	-			81					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.243C>T	CCDS2727.1																																																																																				0.393	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	0	NM_022842		3:45159953
ATP13A5	344905	broad.mit.edu	37	3	193039478	193039478	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:193039478G>T	ENST00000342358.4	-	16	2024	c.1907C>A	c.(1906-1908)tCt>tAt	p.S636Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	636						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S636F(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTGTTTCAGATCTGCAGAA	0.463																																						ENST00000342358.4		NA																	1	Substitution - Missense(1)	p.S636F(1)	skin(1)	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1906-1908)tCt>tAt		ATPase type 13A5							71.0	71.0	71.0					3																	193039478		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193039478G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1907C>A	3.37:g.193039478G>T	ENSP00000341942:p.Ser636Tyr	False	False		Somatic	0					p.S636Y	NM_198505.2	NP_940907.2	WXS	Illumina HiSeq	Phase_I	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	16	2024	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		636					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1907C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759846	0.15846	.	.	ENSG00000187527	ENST00000342358	T	0.71579	-0.58	5.5	4.62	0.57501	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.676384	0.14815	N	0.296831	T	0.65852	0.2731	L	0.41124	1.26	0.20196	N	0.999929	P	0.37176	0.586	B	0.42495	0.389	T	0.60306	-0.7289	10	0.62326	D	0.03	-1.1021	9.2597	0.37605	0.0772:0.0:0.7782:0.1446	.	636	Q4VNC0	AT135_HUMAN	Y	636	ENSP00000341942:S636Y	ENSP00000341942:S636Y	S	-	2	0	ATP13A5	194522172	0.001000	0.12720	0.470000	0.27216	0.062000	0.15995	1.160000	0.31761	1.476000	0.48215	-0.140000	0.14226	TCT		0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	0	NM_198505		3:193039478
GNA15	2769	broad.mit.edu	37	19	3151725	3151725	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:3151725G>A	ENST00000262958.3	+	4	764	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	169					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CACCTGGAGCGCATCACCGAG	0.632																																						ENST00000262958.3		NA																	0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(505-507)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							107.0	93.0	98.0					19																	3151725		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151725G>A		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.506G>A	19.37:g.3151725G>A	ENSP00000262958:p.Arg169His	False	False		Somatic	0				AC005264.2_ENST00000587587.1_RNA	p.R169H	NM_002068.2	NP_002059.2	WXS	Illumina HiSeq	Phase_I	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	764	+		Hepatocellular(1079;0.137)	169					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.506G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027420	0.93518	.	.	ENSG00000060558	ENST00000262958	D	0.91996	-2.95	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	U	0.000000	D	0.96935	0.8999	M	0.94101	3.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.98010	1.0365	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	169	P30679	GNA15_HUMAN	H	169	ENSP00000262958:R169H	ENSP00000262958:R169H	R	+	2	0	GNA15	3102725	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.643000	0.74334	2.093000	0.63338	0.546000	0.68486	CGC		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	0	NM_002068		19:3151725
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3		NA																	1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA		chromosome 15 open reading frame 54							200.0	201.0	200.0					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A		False	False		Somatic	0				RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	WXS	Illumina HiSeq	Phase_I	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	0	NM_207445		15:39544396
PKNOX2	63876	broad.mit.edu	37	11	125280125	125280125	+	Missense_Mutation	SNP	G	G	A	rs572689602		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:125280125G>A	ENST00000298282.9	+	8	893	c.622G>A	c.(622-624)Gga>Aga	p.G208R	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		15553	0.0		0.0	False		,,,				2504	0.001					ENST00000298282.9		NA																	1	Substitution - Missense(1)	p.G208R(1)	upper_aerodigestive_tract(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(622-624)Gga>Aga		PBX/knotted 1 homeobox 2							124.0	129.0	127.0					11																	125280125		2066	4220	6286	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125280125G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>A	11.37:g.125280125G>A	ENSP00000298282:p.Gly208Arg	False	False		Somatic	0				PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	p.G208R	NM_022062.2	NP_071345.2	WXS	Illumina HiSeq	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	8	893	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	208					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.622G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437618	0.62955	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.78616	0.4311	L	0.32530	0.975	0.48452	D	0.999655	P;B	0.34757	0.467;0.355	B;B	0.28011	0.085;0.036	T	0.76329	-0.2999	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0			11:125280125
TCHH	7062	broad.mit.edu	37	1	152082631	152082631	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:152082631C>T	ENST00000368804.1	-	2	3061	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1021	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTTTTTGCGGTActgcct	0.557																																						ENST00000368804.1		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3061-3063)cGc>cAc		trichohyalin							99.0	101.0	101.0					1																	152082631		1983	4145	6128	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082631C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3062G>A	1.37:g.152082631C>T	ENSP00000357794:p.Arg1021His	False	False		Somatic	0					p.R1021H	NM_007113.2	NP_009044.2	WXS	Illumina HiSeq	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3061	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1021			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3062G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595657	0.13875	.	.	ENSG00000159450	ENST00000368804	T	0.14144	2.53	2.67	-1.04	0.10068	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	1	P	0.39624	0.681	B	0.24541	0.054	T	0.43032	-0.9416	9	0.41790	T	0.15	.	2.5479	0.04742	0.3961:0.3433:0.0:0.2606	.	1021	Q07283	TRHY_HUMAN	H	1021	ENSP00000357794:R1021H	ENSP00000357794:R1021H	R	-	2	0	TCHH	150349255	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.086000	0.14935	-0.613000	0.05694	0.462000	0.41574	CGC		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	0	NM_007113		1:152082631
DSG2	1829	broad.mit.edu	37	18	29122723	29122723	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr18:29122723G>A	ENST00000261590.8	+	14	2451	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	748					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACGAAGACCGCAAGGGCCAC	0.517																																						ENST00000261590.8		NA																	0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2242-2244)Gca>Aca		desmoglein 2							88.0	94.0	92.0					18																	29122723		2045	4203	6248	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29122723G>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2242G>A	18.37:g.29122723G>A	ENSP00000261590:p.Ala748Thr	False	False		Somatic	0				RP11-75N4.2_ENST00000583706.1_RNA	p.A748T	NM_001943.3	NP_001934.2	WXS	Illumina HiSeq	Phase_I	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		14	2451	+			748					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2242G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	g	4.453	0.083827	0.08583	.	.	ENSG00000046604	ENST00000261590	T	0.58506	0.33	5.97	-2.61	0.06171	.	1.161370	0.06133	N	0.671107	T	0.20740	0.0499	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	2.1079	0.03695	0.1819:0.1398:0.4044:0.274	.	748	Q14126	DSG2_HUMAN	T	748	ENSP00000261590:A748T	ENSP00000261590:A748T	A	+	1	0	DSG2	27376721	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.708000	0.05035	-0.360000	0.08138	-0.285000	0.09966	GCA		0.517	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	0	NM_001943		18:29122723
COL6A3	1293	broad.mit.edu	37	2	238305387	238305387	+	Missense_Mutation	SNP	G	G	A	rs398124134		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:238305387G>A	ENST00000295550.4	-	2	526	c.74C>T	c.(73-75)gCc>gTc	p.A25V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	25					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTGCTGGGCATGAGTTGT	0.423																																						ENST00000295550.4		NA																	0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(73-75)gCc>gTc		collagen, type VI, alpha 3							121.0	124.0	123.0					2																	238305387		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305387G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.74C>T	2.37:g.238305387G>A	ENSP00000295550:p.Ala25Val	True	False		Somatic	0				COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V	p.A25V	NM_004369.3	NP_004360.2	WXS	Illumina HiSeq	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	526	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	25					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.74C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339245	0.24339	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.88509	-1.09;-1.09;-1.08;-2.39;-1.08;-1.09;-1.08;-0.04;-1.09	5.46	3.62	0.41486	.	0.124395	0.35805	N	0.002975	D	0.92446	0.7602	M	0.61703	1.905	0.25430	N	0.988196	D;B;B;D;D;P	0.71674	0.977;0.006;0.013;0.971;0.998;0.943	P;B;B;P;D;P	0.66602	0.597;0.004;0.017;0.659;0.945;0.5	D	0.86732	0.1949	10	0.56958	D	0.05	.	14.2564	0.66055	0.0:0.3088:0.6912:0.0	.	25;25;25;25;25;25	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	V	25	ENSP00000295550:A25V;ENSP00000315609:A25V;ENSP00000315873:A25V;ENSP00000418285:A25V;ENSP00000386844:A25V;ENSP00000295546:A25V;ENSP00000375861:A25V;ENSP00000375860:A25V;ENSP00000389539:A25V	ENSP00000295550:A25V	A	-	2	0	COL6A3	237970126	0.997000	0.39634	0.295000	0.24960	0.037000	0.13140	2.286000	0.43496	0.638000	0.30545	0.650000	0.86243	GCC		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	NM_004369		2:238305387
C19orf57	79173	broad.mit.edu	37	19	14000364	14000364	+	Silent	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:14000364G>A	ENST00000586783.1	-	5	1304	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Silent_p.S435S|C19orf57_ENST00000346736.2_Silent_p.S435S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	435					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ATGCATGACCGGAATCTCCAG	0.622																																						ENST00000454313.1		NA																	0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1303-1305)tcC>tcT		chromosome 19 open reading frame 57							52.0	54.0	53.0					19																	14000364		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14000364G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1305C>T	19.37:g.14000364G>A		False	False		Somatic	0				C19orf57_ENST00000586783.1_Silent_p.S435S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S435S	p.S435S			WXS	Illumina HiSeq	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1363	-			435					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.1305C>T																																																																																					0.622	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	0	NM_024323		19:14000364
GLCCI1	113263	broad.mit.edu	37	7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	rs374066040		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552																																						ENST00000223145.5		NA																	0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)Gtt>Att		glucocorticoid induced transcript 1		G	ILE/VAL	0,4406		0,0,2203	191.0	208.0	203.0		1480	3.5	0.6	7		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	494/548	8126004	1,13005	2203	4300	6503	SO:0001583	missense	113263							g.chr7:8126004G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1480G>A	7.37:g.8126004G>A	ENSP00000223145:p.Val494Ile	False	False		Somatic	0					p.V494I	NM_138426.3	NP_612435.1	WXS	Illumina HiSeq	Phase_I	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2037	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1480G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155287	0.38021	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.32	3.52	0.40303	.	0.448294	0.24215	N	0.040481	T	0.39886	0.1095	N	0.22421	0.69	0.42198	D	0.991752	B	0.27971	0.196	B	0.14578	0.011	T	0.22730	-1.0208	9	0.35671	T	0.21	-30.1131	11.7827	0.52023	0.1412:0.0:0.8588:0.0	.	494	Q86VQ1	GLCI1_HUMAN	I	494	.	ENSP00000223145:V494I	V	+	1	0	GLCCI1	8092529	1.000000	0.71417	0.644000	0.29465	0.179000	0.23085	2.871000	0.48459	0.941000	0.37499	0.655000	0.94253	GTT		0.552	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	0	NM_138426		7:8126004
HERC2	8924	broad.mit.edu	37	15	28377973	28377973	+	Silent	SNP	C	C	T			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:28377973C>T	ENST00000261609.7	-	80	12342	c.12234G>A	c.(12232-12234)ccG>ccA	p.P4078P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGCGGTCACACGGACTGCAAA	0.463																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12232-12234)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							64.0	70.0	68.0					15																	28377973		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28377973C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12234G>A	15.37:g.28377973C>T		False	False		Somatic	0					p.P4078P	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	80	12342	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4078						Silent	SNP	ENST00000261609.7	37	c.12234G>A	CCDS10021.1																																																																																				0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28377973
LETM2	137994	broad.mit.edu	37	8	38261966	38261966	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:38261966G>A	ENST00000379957.4	+	8	1287	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000297720.5_Missense_Mutation_p.R292H	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	387						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTCCTGTCCCGCACCTTCTAC	0.557																																						ENST00000379957.4		NA																	0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1159-1161)cGc>cAc		leucine zipper-EF-hand containing transmembrane protein 2							188.0	149.0	162.0					8																	38261966		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38261966G>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1160G>A	8.37:g.38261966G>A	ENSP00000369291:p.Arg387His	True	False		Somatic	0				LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000528827.1_3'UTR	p.R387H	NM_001199659.1	NP_001186588.1	WXS	Illumina HiSeq	Phase_I	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		8	1287	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	387					A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.869142	0.91587	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.	.	.	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.67725	0.953;0.881;0.912	T	0.80997	-0.1132	9	0.87932	D	0	-0.692	16.1208	0.81357	0.0:0.0:0.8653:0.1347	.	184;387;339	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	H	292;339;387;340;173	.	ENSP00000297720:R292H	R	+	2	0	LETM2	38381123	1.000000	0.71417	0.552000	0.28243	0.981000	0.71138	9.257000	0.95545	1.455000	0.47813	0.644000	0.83932	CGC		0.557	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	0	NM_144652		8:38261966
PAPSS2	9060	broad.mit.edu	37	10	89503202	89503202	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:89503202G>A	ENST00000361175.4	+	10	1649	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	427					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GACACTCGCCGCAGGCTCCTA	0.582																																						ENST00000361175.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1279-1281)cGc>cAc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							108.0	104.0	106.0					10																	89503202		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89503202G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1280G>A	10.37:g.89503202G>A	ENSP00000354436:p.Arg427His	False	False		Somatic	0				PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H	p.R427H	NM_004670.3	NP_004661.2	WXS	Illumina HiSeq	Phase_I	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	10	1649	+		Melanoma(5;0.019)|Colorectal(252;0.123)	427					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1280G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333777	0.81801	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.33	3.49	0.39957	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.094954	0.85682	D	0.000000	T	0.52517	0.1739	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.79784	0.938;0.993	T	0.53194	-0.8473	10	0.52906	T	0.07	-19.4179	11.5618	0.50780	0.1428:0.0:0.8572:0.0	.	427;432	O95340;O95340-2	PAPS2_HUMAN;.	H	427;432;431;431	ENSP00000354436:R427H;ENSP00000406157:R432H;ENSP00000397123:R431H	ENSP00000354436:R427H	R	+	2	0	PAPSS2	89493182	1.000000	0.71417	0.027000	0.17364	0.993000	0.82548	9.257000	0.95545	0.826000	0.34661	0.561000	0.74099	CGC		0.582	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	0			10:89503202
ANAPC15	25906	broad.mit.edu	37	11	71821263	71821263	+	Missense_Mutation	SNP	A	A	T	rs199779840		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:71821263A>T	ENST00000227618.4	-	5	414	c.189T>A	c.(187-189)gaT>gaA	p.D63E	LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000538393.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000535503.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545944.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543587.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000542531.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543015.1_5'UTR|ANAPC15_ENST00000545680.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000535234.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543050.1_Missense_Mutation_p.D63E	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	63	Asp-rich.				mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											cttcctcgtcatcatAGTGCT	0.498													a|||	1	0.000199681	0.0008	0.0	5008	,	,		22333	0.0		0.0	False		,,,				2504	0.0					ENST00000227618.4		NA																	0					NA						c.(187-189)gaT>gaA		anaphase promoting complex subunit 15							296.0	261.0	273.0					11																	71821263		2200	4293	6493	SO:0001583	missense	25906							g.chr11:71821263A>T	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.189T>A	11.37:g.71821263A>T	ENSP00000227618:p.Asp63Glu	False	False		Somatic	0				ANAPC15_ENST00000543050.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543587.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000535503.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000538393.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000535234.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545944.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543015.1_5'UTR|ANAPC15_ENST00000542531.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000545680.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000435085.1_3'UTR	p.D63E	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	WXS	Illumina HiSeq	Phase_I					5	414	-			NA					G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	ENST00000227618.4	37	c.189T>A	CCDS8210.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	16.10	3.027648	0.54790	.	.	ENSG00000110200	ENST00000543050;ENST00000543587;ENST00000545680;ENST00000227618;ENST00000542531;ENST00000535234;ENST00000545944;ENST00000538393;ENST00000535503;ENST00000538919;ENST00000537644;ENST00000438939;ENST00000545333	T	0.69306	-0.39	4.29	-0.833	0.10782	.	0.221810	0.37483	N	0.002078	T	0.45677	0.1354	N	0.21097	0.63	0.35781	D	0.821626	P;B;B	0.41393	0.748;0.0;0.008	B;B;B	0.38562	0.276;0.001;0.013	T	0.46359	-0.9197	10	0.35671	T	0.21	.	8.6231	0.33872	0.6819:0.0:0.3181:0.0	.	63;63;63	G5EA39;P60006;G3V1Q3	.;CK051_HUMAN;.	E	63;63;63;63;63;63;63;63;63;63;75;75;63	ENSP00000437360:D63E	ENSP00000227618:D63E	D	-	3	2	C11orf51	71498911	0.861000	0.29849	0.995000	0.50966	0.914000	0.54420	0.011000	0.13264	-0.253000	0.09514	0.456000	0.33151	GAT		0.498	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	0	NM_014042		11:71821263
ATP1A3	478	broad.mit.edu	37	19	42490359	42490359	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:42490359G>A	ENST00000302102.5	-	5	530	c.380C>T	c.(379-381)gCg>gTg	p.A127V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A140V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	127					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACCACGGCCGCCAGCACGAT	0.607																																						ENST00000545399.1		NA																	0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(418-420)gCg>gTg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							57.0	51.0	53.0					19																	42490359		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490359G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.380C>T	19.37:g.42490359G>A	ENSP00000302397:p.Ala127Val	False	False		Somatic	0				ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V	p.A140V	NM_001256214.1	NP_001243143.1	WXS	Illumina HiSeq	Phase_I	P13637	AT1A3_HUMAN			5	572	-			127					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.419C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603856	0.66445	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	3.6	3.6	0.41247	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.067171	0.56097	D	0.000024	D	0.85048	0.5608	N	0.17838	0.53	0.47621	D	0.999477	B;P;B;P	0.39759	0.007;0.638;0.35;0.687	B;B;B;P	0.45610	0.026;0.355;0.177;0.487	T	0.81510	-0.0900	10	0.14656	T	0.56	.	13.5331	0.61633	0.0:0.0:1.0:0.0	.	140;138;127;127	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	127;127;140;97;138;140	ENSP00000302397:A127V;ENSP00000411503:A127V;ENSP00000444688:A140V;ENSP00000437577:A138V	ENSP00000302397:A127V	A	-	2	0	ATP1A3	47182199	1.000000	0.71417	0.983000	0.44433	0.838000	0.47535	9.835000	0.99442	1.965000	0.57142	0.491000	0.48974	GCG		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	0	NM_152296		19:42490359
FIGN	55137	broad.mit.edu	37	2	164467288	164467288	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:164467288G>A	ENST00000333129.3	-	3	1368	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	352					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGTTGTCGGGCATTCTGTAC	0.448																																						ENST00000333129.3		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1054-1056)Ccc>Tcc		fidgetin							130.0	125.0	127.0					2																	164467288		1937	4133	6070	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467288G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1054C>T	2.37:g.164467288G>A	ENSP00000333836:p.Pro352Ser	True	False		Somatic	0				FIGN_ENST00000409634.1_Intron	p.P352S	NM_018086.2	NP_060556.2	WXS	Illumina HiSeq	Phase_I	Q5HY92	FIGN_HUMAN			3	1368	-			352					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1054C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	3.349	-0.132926	0.06711	.	.	ENSG00000182263	ENST00000333129	D	0.91843	-2.92	5.94	4.15	0.48705	.	0.456711	0.22595	N	0.058032	D	0.85375	0.5682	L	0.29908	0.895	0.54753	D	0.999989	B	0.17465	0.022	B	0.19666	0.026	T	0.76575	-0.2909	10	0.10636	T	0.68	-4.4398	12.098	0.53765	0.065:0.1212:0.8138:0.0	.	352	Q5HY92	FIGN_HUMAN	S	352	ENSP00000333836:P352S	ENSP00000333836:P352S	P	-	1	0	FIGN	164175534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.220000	0.51207	0.852000	0.35287	0.563000	0.77884	CCC		0.448	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	0	NM_018086		2:164467288
