#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NABP1	64859	broad.mit.edu	37	2	192543841	192543841	+	Missense_Mutation	SNP	C	C	T	rs138402221		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:192543841C>T	ENST00000425611.2	+	2	300	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	NABP1_ENST00000410026.2_5'UTR|NABP1_ENST00000409510.1_5'UTR	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	73					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										GGATATTATTCGGTTGACCAG	0.522																																						ENST00000425611.2																			0											c.(217-219)Cgg>Tgg		nucleic acid binding protein 1							76.0	73.0	74.0					2																	192543841		2203	4300	6503	SO:0001583	missense	64859							g.chr2:192543841C>T	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.217C>T	2.37:g.192543841C>T	ENSP00000403683:p.Arg73Trp					NABP1_ENST00000409510.1_5'UTR|NABP1_ENST00000410026.1_5'UTR	p.R73W							2	300	+								Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	c.217C>T	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434549	0.83776	.	.	ENSG00000173559	ENST00000425611	T	0.31247	1.5	5.27	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.073647	0.51477	D	0.000098	T	0.56337	0.1978	M	0.88979	2.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.65987	0.94	T	0.62167	-0.6911	10	0.87932	D	0	.	8.8296	0.35076	0.1484:0.7759:0.0:0.0757	.	73	Q96AH0	SOSB2_HUMAN	W	73	ENSP00000403683:R73W	ENSP00000307968:R73W	R	+	1	2	OBFC2A	192252086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.848000	0.55903	1.235000	0.43724	0.650000	0.86243	CGG		0.522	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		14	68	0	0	0	1	0	14	68				
PCDHGA8	9708	broad.mit.edu	37	5	140774660	140774660	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140774660C>T	ENST00000398604.2	+	1	2280	c.2280C>T	c.(2278-2280)acC>acT	p.T760T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	760					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTCACCGCCGACTCGC	0.527																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2278-2280)acC>acT									81.0	86.0	84.0					5																	140774660		2200	4300	6500	SO:0001819	synonymous_variant	9708							g.chr5:140774660C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2280C>T	5.37:g.140774660C>T						PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.T760T	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2280	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.2280C>T	CCDS47291.1																																																																																				0.527	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		24	66	0	0	0	1	0	24	66				
EPS8	2059	broad.mit.edu	37	12	15811037	15811037	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:15811037G>A	ENST00000281172.5	-	12	1513	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	EPS8_ENST00000543523.1_Silent_p.H359H|EPS8_ENST00000540613.1_Silent_p.H99H|EPS8_ENST00000542903.1_Silent_p.H99H|EPS8_ENST00000543612.1_Silent_p.H359H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	359					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TAAACAAAAAGTGAACCAAAT	0.338																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1075-1077)caC>caT		epidermal growth factor receptor pathway substrate 8							70.0	71.0	71.0					12																	15811037		2203	4300	6503	SO:0001819	synonymous_variant	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15811037G>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1077C>T	12.37:g.15811037G>A						EPS8_ENST00000540613.1_Silent_p.H99H|EPS8_ENST00000543612.1_Silent_p.H359H|EPS8_ENST00000542903.1_Silent_p.H99H|EPS8_ENST00000543523.1_Silent_p.H359H	p.H359H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	12	1513	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	359					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.1077C>T	CCDS31753.1																																																																																				0.338	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			8	27	0	0	0	1	0	8	27				
PCDHGC4	56098	broad.mit.edu	37	5	140865760	140865760	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140865760G>T	ENST00000306593.1	+	1	1020	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGGATCTGCTGGACGTAA	0.527																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1018-1020)ctG>ctT									82.0	77.0	79.0					5																	140865760		2203	4300	6503	SO:0001819	synonymous_variant	56098							g.chr5:140865760G>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1020G>T	5.37:g.140865760G>T						PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L340L	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1020	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1020G>T	CCDS4262.1																																																																																				0.527	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		26	49	1	0	1.64293e-13	1	1.82734e-13	26	49				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	284802							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	29	0	0	0	1	0	3	29				
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000338017.4_Silent_p.T675T|SLITRK4_ENST00000356928.1_Silent_p.T675T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2023-2025)acC>acA		SLIT and NTRK-like family, member 4							123.0	125.0	124.0					X																	142716900		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716900G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2025C>A	X.37:g.142716900G>T						SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2250	-	Acute lymphoblastic leukemia(192;6.56e-05)		675					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2025C>A	CCDS14679.1																																																																																				0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		49	54	1	0	2.43277e-16	1	2.79128e-16	49	54				
ZNF646	9726	broad.mit.edu	37	16	31088477	31088477	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr16:31088477C>T	ENST00000394979.2	+	1	1255	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.L278F			O15015	ZN646_HUMAN	zinc finger protein 646	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTTCTCTAACCTCATGGCTCT	0.612																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(832-834)Ctc>Ttc		zinc finger protein 646							104.0	95.0	98.0					16																	31088477		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088477C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.832C>T	16.37:g.31088477C>T	ENSP00000378429:p.Leu278Phe					ZNF646_ENST00000300850.5_Missense_Mutation_p.L278F	p.L278F			O15015	ZN646_HUMAN			1	1255	+			278					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.832C>T		.	.	.	.	.	.	.	.	.	.	C	17.99	3.522478	0.64747	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.29655	1.56;1.56	5.34	5.34	0.76211	.	.	.	.	.	T	0.47021	0.1423	L	0.39020	1.185	0.39149	D	0.96219	D	0.76494	0.999	D	0.91635	0.999	T	0.39440	-0.9614	9	0.39692	T	0.17	-21.1327	17.8034	0.88595	0.0:1.0:0.0:0.0	.	278	O15015-2	.	F	278;278;43	ENSP00000300850:L278F;ENSP00000378429:L278F	ENSP00000300850:L278F	L	+	1	0	ZNF646	30995978	0.790000	0.28787	1.000000	0.80357	0.969000	0.65631	0.264000	0.18497	2.501000	0.84356	0.655000	0.94253	CTC		0.612	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		20	53	0	0	0	1	0	20	53				
ABCA2	20	broad.mit.edu	37	9	139912063	139912063	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:139912063C>T	ENST00000371605.3	-	16	2437	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	ABCA2_ENST00000265662.5_Missense_Mutation_p.V765M|ABCA2_ENST00000341511.6_Missense_Mutation_p.V765M|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	764					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTGCTGTCACGGAGATGGAC	0.617																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2293-2295)Gtg>Atg		ATP-binding cassette, sub-family A (ABC1), member 2							70.0	80.0	76.0					9																	139912063		2150	4247	6397	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912063C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2290G>A	9.37:g.139912063C>T	ENSP00000360666:p.Val764Met					ABCA2_ENST00000341511.6_Missense_Mutation_p.V765M|ABCA2_ENST00000371605.3_Missense_Mutation_p.V764M	p.V765M			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	17	2440	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	764					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2293G>A		.	.	.	.	.	.	.	.	.	.	C	17.09	3.300747	0.60195	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.83250	-1.7;-1.7;-1.7	4.09	4.09	0.47781	.	0.000000	0.64402	U	0.000001	D	0.87354	0.6156	L	0.45285	1.41	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.959	D	0.87673	0.2542	10	0.45353	T	0.12	.	16.6332	0.85039	0.0:1.0:0.0:0.0	.	764;795	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	M	765;764;795;765	ENSP00000265662:V765M;ENSP00000360666:V764M;ENSP00000344155:V765M	ENSP00000265662:V765M	V	-	1	0	ABCA2	139031884	1.000000	0.71417	0.802000	0.32245	0.083000	0.17756	7.561000	0.82288	1.996000	0.58369	0.313000	0.20887	GTG		0.617	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		13	61	0	0	0	1	0	13	61				
SPATA18	132671	broad.mit.edu	37	4	52946083	52946083	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:52946083C>T	ENST00000295213.4	+	9	1727	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	SPATA18_ENST00000419395.2_Silent_p.C419C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	451					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTAATGATTGCAAGTAAGAGA	0.403																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1351-1353)tgC>tgT		spermatogenesis associated 18							135.0	132.0	133.0					4																	52946083		2203	4300	6503	SO:0001819	synonymous_variant	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52946083C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1353C>T	4.37:g.52946083C>T						SPATA18_ENST00000419395.2_Silent_p.C419C	p.C451C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1727	+			451					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	c.1353C>T	CCDS3489.1																																																																																				0.403	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		25	105	0	0	0	1	0	25	105				
ATF1	466	broad.mit.edu	37	12	51173961	51173961	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:51173961G>C	ENST00000262053.3	+	2	55	c.33G>C	c.(31-33)gaG>gaC	p.E11D	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	11					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	CCACGTCAGAGACAGCACCTC	0.408			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(31-33)gaG>gaC		activating transcription factor 1							130.0	133.0	132.0					12																	51173961		2203	4300	6503	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51173961G>C	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.33G>C	12.37:g.51173961G>C	ENSP00000262053:p.Glu11Asp					ATF1_ENST00000539132.1_5'UTR	p.E11D	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			2	55	+			11					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.33G>C	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048012	0.55110	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.77877	-1.13;0.38;0.4	5.56	2.76	0.32466	.	0.310802	0.32041	N	0.006669	T	0.71937	0.3399	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	D	0.65443	0.935	T	0.72261	-0.4345	10	0.62326	D	0.03	-0.2778	8.3923	0.32535	0.2477:0.0:0.7523:0.0	.	11	P18846	ATF1_HUMAN	D	11	ENSP00000448592:E11D;ENSP00000262053:E11D;ENSP00000448921:E11D	ENSP00000262053:E11D	E	+	3	2	ATF1	49460228	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.537000	0.36083	0.404000	0.25506	0.655000	0.94253	GAG		0.408	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		27	109	0	0	0	1	0	27	109				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	29	0	0	0	1	0	3	29				
SCFD1	23256	broad.mit.edu	37	14	31142517	31142517	+	Silent	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31142517A>T	ENST00000458591.2	+	12	1277	c.1050A>T	c.(1048-1050)gcA>gcT	p.A350A	SCFD1_ENST00000544052.2_Silent_p.A283A|SCFD1_ENST00000541123.1_Silent_p.A165A|SCFD1_ENST00000396629.2_Silent_p.A258A|SCFD1_ENST00000421551.3_Silent_p.A291A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	350					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTTACAGAGCACAGGAAGATG	0.358																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1048-1050)gcA>gcT		sec1 family domain containing 1							92.0	85.0	87.0					14																	31142517		2203	4300	6503	SO:0001819	synonymous_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31142517A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1050A>T	14.37:g.31142517A>T						SCFD1_ENST00000396629.2_Silent_p.A258A|SCFD1_ENST00000544052.2_Silent_p.A283A|SCFD1_ENST00000421551.3_Silent_p.A291A|SCFD1_ENST00000541123.1_Silent_p.A165A	p.A350A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	12	1277	+	Hepatocellular(127;0.0877)		350					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	ENST00000458591.2	37	c.1050A>T	CCDS9639.1																																																																																				0.358	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		4	33	0	0	0	1	0	4	33				
SFN	2810	broad.mit.edu	37	1	27190210	27190210	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:27190210C>T	ENST00000339276.4	+	1	578	c.507C>T	c.(505-507)cgC>cgT	p.R169R		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		ACCCCATCCGCCTGGGCCTGG	0.612																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(505-507)cgC>cgT		stratifin							89.0	82.0	85.0					1																	27190210		2203	4300	6503	SO:0001819	synonymous_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190210C>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.507C>T	1.37:g.27190210C>T							p.R169R	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	578	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	169					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	c.507C>T	CCDS288.1																																																																																				0.612	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		58	119	0	0	0	1	0	58	119				
KIR3DL1	3811	broad.mit.edu	37	19	55294964	55294964	+	Intron	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:55294964G>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A282S|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A308S|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A282S|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAAGAGTCTGCAGGAAACAG	0.512																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(844-846)Gca>Tca		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							179.0	178.0	179.0					19																	55294964		2172	4194	6366	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294964G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34025G>T	19.37:g.55294964G>T						KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A308S|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A282S|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	p.A282S	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	884	+			282					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.844G>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851591	0.32699	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	T;T;T	0.00485	7.16;7.12;7.07	0.929	0.929	0.19449	.	.	.	.	.	T	0.00784	0.0026	M	0.80183	2.485	0.09310	N	1	B;P;P;P	0.48998	0.435;0.63;0.918;0.918	B;B;P;P	0.51453	0.099;0.265;0.67;0.593	T	0.47114	-0.9142	9	0.87932	D	0	.	5.2086	0.15304	0.0:0.0:1.0:0.0	.	308;283;282;282	Q6IST4;E3NZD7;Q6H2H3;P43627	.;.;.;KI2L2_HUMAN	S	282;282;308	ENSP00000415758:A282S;ENSP00000336769:A282S;ENSP00000291633:A308S	ENSP00000291633:A308S	A	+	1	0	KIR2DL1;KIR2DL3	59986776	0.038000	0.19896	0.016000	0.15963	0.010000	0.07245	0.492000	0.22435	0.795000	0.33922	0.184000	0.17185	GCA		0.512	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		32	142	1	0	1.836e-18	1	2.12898e-18	32	142				
ADAMTS14	140766	broad.mit.edu	37	10	72509715	72509715	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:72509715C>G	ENST00000373207.1	+	16	2401	c.2401C>G	c.(2401-2403)Ccc>Gcc	p.P801A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P804A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	801	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCAGCGGGCCCCTGCCTGA	0.642																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2410-2412)Ccc>Gcc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							97.0	85.0	89.0					10																	72509715		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72509715C>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2401C>G	10.37:g.72509715C>G	ENSP00000362303:p.Pro801Ala					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P801A	p.P804A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			16	2410	+			801			Spacer.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2410C>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743851	0.69418	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61627	0.09;0.09	4.55	4.55	0.56014	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.83223	2.63	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.82216	-0.0567	10	0.72032	D	0.01	.	17.0916	0.86623	0.0:1.0:0.0:0.0	.	801;804	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	A	804;801	ENSP00000362304:P804A;ENSP00000362303:P801A	ENSP00000362303:P801A	P	+	1	0	ADAMTS14	72179721	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.651000	0.83577	2.383000	0.81215	0.462000	0.41574	CCC		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	138	0	0	0	1	0	10	138				
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7578392C>T	ENST00000269305.4	-	5	727	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TP53_ENST00000420246.2_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K|TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGCAGCGCTCATGGTGGGGG	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Deletion - In frame(21)|Substitution - Nonsense(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Substitution - Missense(6)|Insertion - Frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(1)	large_intestine(16)|upper_aerodigestive_tract(9)|urinary_tract(6)|breast(6)|lung(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|liver(2)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941328	TP53	M		c.(538-540)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578392		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578392C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.538G>A	17.37:g.7578392C>T	ENSP00000269305:p.Glu180Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K	p.E180K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	670	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	180		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.538G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704841	0.88924	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	L	0.48935	1.535	0.58432	D	0.999997	D;D;B;D;D;D;D	0.89917	0.985;0.999;0.303;0.997;0.999;1.0;1.0	P;D;B;D;D;D;D	0.87578	0.869;0.986;0.203;0.915;0.992;0.995;0.998	D	0.97925	1.0317	10	0.72032	D	0.01	-40.5855	17.1938	0.86887	0.0:1.0:0.0:0.0	.	141;180;180;87;180;180;180	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	180;180;180;180;180;180;169;87;48;87;48	ENSP00000410739:E180K;ENSP00000352610:E180K;ENSP00000269305:E180K;ENSP00000398846:E180K;ENSP00000391127:E180K;ENSP00000391478:E180K;ENSP00000425104:E48K;ENSP00000423862:E87K	ENSP00000269305:E180K	E	-	1	0	TP53	7519117	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	4.918000	0.63376	2.735000	0.93741	0.563000	0.77884	GAG		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	63	0	0	0	1	0	23	63				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	57	0	0	0	1	0	4	57				
MAPKAPK5	8550	broad.mit.edu	37	12	112318262	112318262	+	Silent	SNP	G	G	A	rs367858495		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:112318262G>A	ENST00000551404.2	+	8	699	c.591G>A	c.(589-591)gcG>gcA	p.A197A	MAPKAPK5_ENST00000550735.2_Silent_p.A197A			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TACTGGAGGCGCAAAGAAGGC	0.463																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(589-591)gcG>gcA		mitogen-activated protein kinase-activated protein kinase 5		G	,	0,3970		0,0,1985	141.0	133.0	135.0		591,591	-11.7	0.2	12		135	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous	MAPKAPK5	NM_003668.2,NM_139078.1	,	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	,	197/472,197/474	112318262	1,12279	1985	4155	6140	SO:0001819	synonymous_variant	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112318262G>A	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.591G>A	12.37:g.112318262G>A						MAPKAPK5_ENST00000551404.2_Silent_p.A197A	p.A197A	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			8	1347	+			197			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Silent	SNP	ENST00000551404.2	37	c.591G>A	CCDS44975.1																																																																																				0.463	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		4	120	0	0	0	1	0	4	120				
SPG11	80208	broad.mit.edu	37	15	44890920	44890920	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr15:44890920C>A	ENST00000261866.7	-	22	3817	c.3801G>T	c.(3799-3801)aaG>aaT	p.K1267N	SPG11_ENST00000427534.2_Missense_Mutation_p.K1267N|SPG11_ENST00000535302.2_Missense_Mutation_p.K1267N|SPG11_ENST00000558319.1_Missense_Mutation_p.K1267N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1267					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAACTCTGAGCTTGAGGCTGT	0.428																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(3799-3801)aaG>aaT		spastic paraplegia 11 (autosomal recessive)							147.0	137.0	140.0					15																	44890920		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44890920C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3801G>T	15.37:g.44890920C>A	ENSP00000261866:p.Lys1267Asn					SPG11_ENST00000427534.2_Missense_Mutation_p.K1267N|SPG11_ENST00000535302.2_Missense_Mutation_p.K1267N|SPG11_ENST00000558319.1_Missense_Mutation_p.K1267N	p.K1267N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	22	3817	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1267					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3801G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772204	0.49680	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81078	-1.45;-1.45;-1.45	6.03	4.15	0.48705	.	0.233003	0.43579	D	0.000550	T	0.80539	0.4642	M	0.76002	2.32	0.80722	D	1	P;P;P	0.41848	0.729;0.763;0.493	B;B;B	0.40444	0.328;0.329;0.232	T	0.80984	-0.1138	10	0.59425	D	0.04	.	13.2279	0.59924	0.0:0.782:0.0:0.218	.	1267;1267;1267	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	N	1267	ENSP00000261866:K1267N;ENSP00000445278:K1267N;ENSP00000396110:K1267N	ENSP00000261866:K1267N	K	-	3	2	SPG11	42678212	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.530000	0.23036	0.891000	0.36235	-0.797000	0.03246	AAG		0.428	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			7	69	1	0	0.27861	1	0.27861	7	69				
MUC2	4583	broad.mit.edu	37	11	1075751	1075751	+	Silent	SNP	C	C	T	rs371848793		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:1075751C>T	ENST00000441003.2	+	2	204	c.177C>T	c.(175-177)tgC>tgT	p.C59C	MUC2_ENST00000359061.5_Silent_p.C59C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	59	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGGCCTCTGCGACTACAACT	0.647																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(175-177)tgC>tgT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C		0,4122		0,0,2061	22.0	27.0	26.0		177	-7.2	0.9	11		26	1,8405		0,1,4202	no	coding-synonymous	MUC2	NM_002457.2		0,1,6263	TT,TC,CC		0.0119,0.0,0.0080		59/2813	1075751	1,12527	2061	4203	6264	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1075751C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.177C>T	11.37:g.1075751C>T						MUC2_ENST00000359061.5_Silent_p.C59C	p.C59C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	204	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	59			VWFD 1.		Q14878	Silent	SNP	ENST00000441003.2	37	c.177C>T																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	29	0	0	0	1	0	7	29				
SPAG7	9552	broad.mit.edu	37	17	4863359	4863359	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:4863359C>G	ENST00000206020.3	-	5	442	c.375G>C	c.(373-375)gaG>gaC	p.E125D	SPAG7_ENST00000573366.1_Missense_Mutation_p.E74D|SPAG7_ENST00000575142.1_Missense_Mutation_p.E114D	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	125						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGTCCCATTCCTCTCCACGAC	0.542																																						ENST00000573366.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(220-222)gaG>gaC		sperm associated antigen 7							116.0	112.0	114.0					17																	4863359		1924	4142	6066	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863359C>G	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.375G>C	17.37:g.4863359C>G	ENSP00000206020:p.Glu125Asp					SPAG7_ENST00000206020.3_Missense_Mutation_p.E125D|SPAG7_ENST00000575142.1_Missense_Mutation_p.E114D	p.E74D			O75391	SPAG7_HUMAN			5	1080	-			125			R3H.		Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.222G>C	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686688	0.48097	.	.	ENSG00000091640	ENST00000206020	T	0.43294	0.95	5.3	-0.61	0.11604	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.45051	1.395	0.47994	D	0.99956	D	0.67145	0.996	P	0.62813	0.907	T	0.24225	-1.0166	10	0.26408	T	0.33	-13.1879	9.3953	0.38399	0.0:0.5912:0.0:0.4088	.	125	O75391	SPAG7_HUMAN	D	125	ENSP00000206020:E125D	ENSP00000206020:E125D	E	-	3	2	SPAG7	4804082	0.869000	0.29996	0.944000	0.38274	0.969000	0.65631	-0.122000	0.10627	-0.176000	0.10707	-0.136000	0.14681	GAG		0.542	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		11	191	0	0	0	1	0	11	191				
ZNF280A	129025	broad.mit.edu	37	22	22869062	22869062	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr22:22869062A>C	ENST00000302097.3	-	2	1145	c.893T>G	c.(892-894)tTt>tGt	p.F298C		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAGGCATTTAAAGGTGGTGTG	0.403																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(892-894)tTt>tGt		zinc finger protein 280A							115.0	109.0	111.0					22																	22869062		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869062A>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.893T>G	22.37:g.22869062A>C	ENSP00000302855:p.Phe298Cys						p.F298C	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1145	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	298						Missense_Mutation	SNP	ENST00000302097.3	37	c.893T>G	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966440	0.53507	.	.	ENSG00000169548	ENST00000302097	T	0.01516	4.81	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.10937	0.0267	M	0.89601	3.045	0.30483	N	0.772206	D	0.89917	1.0	D	0.76071	0.987	T	0.02098	-1.1214	9	0.87932	D	0	.	6.8113	0.23807	0.7925:0.0:0.0:0.2075	.	298	P59817	Z280A_HUMAN	C	298	ENSP00000302855:F298C	ENSP00000302855:F298C	F	-	2	0	ZNF280A	21199062	1.000000	0.71417	0.938000	0.37757	0.923000	0.55619	4.487000	0.60293	1.988000	0.58038	0.533000	0.62120	TTT		0.403	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		45	93	0	0	0	1	0	45	93				
ANKHD1	54882	broad.mit.edu	37	5	139876313	139876313	+	Silent	SNP	A	A	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:139876313A>G	ENST00000360839.2	+	15	2608	c.2454A>G	c.(2452-2454)gaA>gaG	p.E818E	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.E818E|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Silent_p.E818E	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	818						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGATAGAAGAACTTAAAA	0.378																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2452-2454)gaA>gaG		ankyrin repeat and KH domain containing 1							68.0	72.0	71.0					5																	139876313		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139876313A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2454A>G	5.37:g.139876313A>G						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.E818E|ANKHD1_ENST00000360839.2_Silent_p.E818E|ANKHD1_ENST00000462121.1_3'UTR	p.E818E	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2578	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.2454A>G	CCDS4225.1																																																																																				0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		31	65	0	0	0	1	0	31	65				
NPAS4	266743	broad.mit.edu	37	11	66190203	66190203	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:66190203C>T	ENST00000311034.2	+	4	665	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	163					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGAGTGCAGGCAACAAACTCG	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(487-489)ggC>ggT		neuronal PAS domain protein 4							115.0	110.0	112.0					11																	66190203		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190203C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.489C>T	11.37:g.66190203C>T							p.G163G	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			4	665	+			163					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.489C>T	CCDS8138.1																																																																																				0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		29	103	0	0	0	1	0	29	103				
ARFGEF2	10564	broad.mit.edu	37	20	47604842	47604842	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:47604842C>A	ENST00000371917.4	+	17	2278	c.2278C>A	c.(2278-2280)Caa>Aaa	p.Q760K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	760	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTCCAGGCAAACTCTGTT	0.418																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.e17-1		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							82.0	69.0	74.0					20																	47604842		2203	4300	6503	SO:0001630	splice_region_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47604842C>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2277-1C>A	20.37:g.47604842C>A							p.Q760_splice	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		17	2278	+			760			SEC7.		Q5TFT9|Q9NTS1	Splice_Site	SNP	ENST00000371917.4	37	c.2276_splice	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325745	0.81580	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.53423	0.62	5.66	5.66	0.87406	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.059971	0.64402	D	0.000003	T	0.46795	0.1411	L	0.46157	1.445	0.80722	D	1	P	0.52577	0.954	B	0.44315	0.446	T	0.25984	-1.0116	10	0.16420	T	0.52	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	760	Q9Y6D5	BIG2_HUMAN	K	760	ENSP00000360985:Q760K	ENSP00000360985:Q760K	Q	+	1	0	ARFGEF2	47038249	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.752000	0.85141	2.832000	0.97577	0.655000	0.94253	CAA		0.418	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	Missense_Mutation	11	32	1	0	0.010729	1	0.0110327	11	32				
TRAF6	7189	broad.mit.edu	37	11	36514153	36514153	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:36514153C>A	ENST00000526995.1	-	6	950	c.704G>T	c.(703-705)tGc>tTc	p.C235F	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.C235F	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	235	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGCTGTAGGGCAGTCTAGATC	0.323																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(703-705)tGc>tTc		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							138.0	142.0	141.0					11																	36514153		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36514153C>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.704G>T	11.37:g.36514153C>A	ENSP00000433623:p.Cys235Phe					TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.C235F	p.C235F	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			6	950	-	all_lung(20;0.211)	all_hematologic(20;0.107)	235			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.704G>T	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583272	0.86748	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.77229	-1.08;-1.08	5.64	5.64	0.86602	Zinc finger, TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	D	0.91613	0.7350	H	0.94886	3.595	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.93426	0.6781	10	0.87932	D	0	-7.6256	19.6916	0.96005	0.0:1.0:0.0:0.0	.	235	Q9Y4K3	TRAF6_HUMAN	F	235	ENSP00000433623:C235F;ENSP00000337853:C235F	ENSP00000337853:C235F	C	-	2	0	TRAF6	36470729	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.120000	0.77153	2.662000	0.90505	0.557000	0.71058	TGC		0.323	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		24	99	1	0	8.24728e-16	1	9.3641e-16	24	99				
TSHZ3	57616	broad.mit.edu	37	19	31769409	31769409	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:31769409G>A	ENST00000240587.4	-	2	1617	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	430					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTAGGTGTGACAGGCGTCT	0.582																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1288-1290)gtC>gtT		teashirt zinc finger homeobox 3							111.0	106.0	107.0					19																	31769409		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769409G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1290C>T	19.37:g.31769409G>A							p.V430V	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1617	-	Esophageal squamous(110;0.226)		430					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1290C>T	CCDS12421.2																																																																																				0.582	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		40	132	0	0	0	1	0	40	132				
IGLV3-32	28787	broad.mit.edu	37	22	22937477	22937477	+	RNA	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr22:22937477G>A	ENST00000390303.2	+	0	334									immunoglobulin lambda variable 3-32 (non-functional)																		CCAGGCTGAGGATGAGGCTGA	0.498																																						ENST00000390303.2																			0																				53.0	52.0	52.0					22																	22937477		2034	4186	6220			28787							g.chr22:22937477G>A	Z73645		22q11.2	2012-02-08	2008-09-15		ENSG00000211657	ENSG00000211657		"""Immunoglobulins / IGL locus"""	5914	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-32"""				Standard	NG_000002		Approved				OTTHUMG00000151166		22.37:g.22937477G>A														0	334	+									RNA	SNP	ENST00000390303.2	37																																																																																						0.498	IGLV3-32-001	KNOWN	non_canonical_conserved|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321635.2	NG_000002		13	37	0	0	0	1	0	13	37				
KANK4	163782	broad.mit.edu	37	1	62740535	62740535	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:62740535G>A	ENST00000371153.4	-	3	619	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	81						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCAGGGGGGCGAGCCCCACTG	0.567																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(241-243)Cgc>Tgc		KN motif and ankyrin repeat domains 4							89.0	100.0	96.0					1																	62740535		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740535G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.241C>T	1.37:g.62740535G>A	ENSP00000360195:p.Arg81Cys					KANK4_ENST00000354381.3_Intron	p.R81C	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	619	-			81					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.241C>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275393	0.80580	.	.	ENSG00000132854	ENST00000371153	T	0.77877	-1.13	5.13	4.16	0.48862	.	0.000000	0.37857	N	0.001902	T	0.81331	0.4800	L	0.60455	1.87	0.33420	D	0.579693	D	0.76494	0.999	P	0.53185	0.72	D	0.87329	0.2323	10	0.87932	D	0	-20.6181	15.4587	0.75336	0.0:0.0:0.8081:0.1919	.	81	Q5T7N3	KANK4_HUMAN	C	81	ENSP00000360195:R81C	ENSP00000360195:R81C	R	-	1	0	KANK4	62513123	0.997000	0.39634	0.609000	0.28983	0.670000	0.39368	3.346000	0.52190	2.665000	0.90641	0.563000	0.77884	CGC		0.567	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		92	86	0	0	0	1	0	92	86				
PKP1	5317	broad.mit.edu	37	1	201286835	201286835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:201286835C>T	ENST00000352845.3	+	5	982	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Nonsense_Mutation_p.Q328*|PKP1_ENST00000367324.3_Nonsense_Mutation_p.Q328*			Q13835	PKP1_HUMAN	plakophilin 1	328					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACCCGGAGGCAGAATGGGAT	0.657																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(982-984)Cag>Tag		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							34.0	36.0	35.0					1																	201286835		2203	4300	6503	SO:0001587	stop_gained	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201286835C>T	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.982C>T	1.37:g.201286835C>T	ENSP00000295597:p.Gln328*					PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Nonsense_Mutation_p.Q328*|PKP1_ENST00000367324.3_Nonsense_Mutation_p.Q328*	p.Q328*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			5	1233	+			328					O00645|Q14CA0|Q15152	Nonsense_Mutation	SNP	ENST00000352845.3	37	c.982C>T	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	C	37	5.977823	0.97168	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	.	.	.	5.24	5.24	0.73138	.	0.355322	0.33916	N	0.004435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-3.8947	13.8084	0.63248	0.1532:0.8468:0.0:0.0	.	.	.	.	X	328	.	ENSP00000263946:Q328X	Q	+	1	0	PKP1	199553458	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.270000	0.51600	2.466000	0.83321	0.551000	0.68910	CAG		0.657	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		20	40	0	0	0	1	0	20	40				
CDC20B	166979	broad.mit.edu	37	5	54429249	54429249	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:54429249T>A	ENST00000381375.2	-	6	833	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	CDC20B_ENST00000334206.5_Missense_Mutation_p.N230Y|CDC20B_ENST00000296733.1_Missense_Mutation_p.N230Y|CDC20B_ENST00000322374.6_Missense_Mutation_p.N230Y			Q86Y33	CD20B_HUMAN	cell division cycle 20B	230										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGTAGTCATTTCGAAGACCA	0.343																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(688-690)Aat>Tat		cell division cycle 20B							102.0	104.0	103.0					5																	54429249		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54429249T>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.688A>T	5.37:g.54429249T>A	ENSP00000370781:p.Asn230Tyr					CDC20B_ENST00000381375.2_Missense_Mutation_p.N230Y|CDC20B_ENST00000296733.1_Missense_Mutation_p.N230Y|CDC20B_ENST00000322374.6_Missense_Mutation_p.N230Y	p.N230Y			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		6	864	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	230					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.688A>T	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573944	0.65765	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.97	3.8	0.43715	WD40 repeat-like-containing domain (1);	0.132073	0.34555	N	0.003877	T	0.49355	0.1552	M	0.74467	2.265	0.80722	D	1	D;D;P;D	0.89917	0.973;0.974;0.956;1.0	P;P;P;D	0.65874	0.847;0.66;0.459;0.939	T	0.52533	-0.8563	10	0.87932	D	0	-4.1161	8.5291	0.33324	0.0:0.1462:0.0:0.8538	.	230;230;230;230	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	Y	230	ENSP00000335664:N230Y;ENSP00000296733:N230Y;ENSP00000370781:N230Y;ENSP00000315720:N230Y	ENSP00000296733:N230Y	N	-	1	0	CDC20B	54465006	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.613000	0.24299	2.071000	0.62044	0.528000	0.53228	AAT		0.343	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		17	50	0	0	0	1	0	17	50				
PSG3	5671	broad.mit.edu	37	19	43236961	43236961	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:43236961A>T	ENST00000327495.5	-	3	868	c.684T>A	c.(682-684)agT>agA	p.S228R	PSG3_ENST00000595140.1_Missense_Mutation_p.S228R|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	228	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACTGGGTCACTGCGGCTGG	0.522																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(682-684)agT>agA		pregnancy specific beta-1-glycoprotein 3							222.0	226.0	224.0					19																	43236961		2203	4297	6500	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43236961A>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.684T>A	19.37:g.43236961A>T	ENSP00000332215:p.Ser228Arg					PSG3_ENST00000595140.1_Missense_Mutation_p.S228R	p.S228R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	868	-		Prostate(69;0.00682)	228			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.684T>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	14.30	2.494354	0.44352	.	.	ENSG00000221826	ENST00000327495	T	0.18174	2.23	1.59	1.59	0.23543	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45175	0.1329	M	0.92691	3.335	0.22571	N	0.998978	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	T	0.18713	-1.0328	9	0.87932	D	0	.	5.2153	0.15338	1.0:0.0:0.0:0.0	.	206;228	Q08266;Q16557	.;PSG3_HUMAN	R	228	ENSP00000332215:S228R	ENSP00000332215:S228R	S	-	3	2	PSG3	47928801	0.770000	0.28543	0.243000	0.24186	0.031000	0.12232	0.502000	0.22594	0.725000	0.32318	0.324000	0.21423	AGT		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		137	450	0	0	0	1	0	137	450				
SCFD1	23256	broad.mit.edu	37	14	31177218	31177218	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31177218A>T	ENST00000458591.2	+	19	1803	c.1576A>T	c.(1576-1578)Aca>Tca	p.T526S	SCFD1_ENST00000544052.2_Missense_Mutation_p.T459S|SCFD1_ENST00000541123.1_Missense_Mutation_p.T341S|SCFD1_ENST00000396629.2_Missense_Mutation_p.T434S|SCFD1_ENST00000421551.3_Missense_Mutation_p.T467S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	526					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCATGAATACAGGATCACA	0.363																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(1576-1578)Aca>Tca		sec1 family domain containing 1							194.0	176.0	182.0					14																	31177218		2203	4300	6503	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31177218A>T	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1576A>T	14.37:g.31177218A>T	ENSP00000390783:p.Thr526Ser					SCFD1_ENST00000396629.2_Missense_Mutation_p.T434S|SCFD1_ENST00000544052.2_Missense_Mutation_p.T459S|SCFD1_ENST00000421551.3_Missense_Mutation_p.T467S|SCFD1_ENST00000541123.1_Missense_Mutation_p.T341S	p.T526S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	19	1803	+	Hepatocellular(127;0.0877)		526					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.1576A>T	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	A	5.516	0.280102	0.10458	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.28	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	N	0.25060	0.705	0.47123	D	0.999329	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.19946	0.004;0.016;0.027	T	0.04825	-1.0924	10	0.07813	T	0.8	-16.9174	10.7405	0.46149	0.8574:0.0:0.0:0.1426	.	467;459;526	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	S	526;459;467;341;434	ENSP00000390783:T526S;ENSP00000443010:T459S;ENSP00000388078:T467S;ENSP00000443537:T341S;ENSP00000379870:T434S	ENSP00000309417:T534S	T	+	1	0	SCFD1	30246969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.768000	0.68858	0.810000	0.34279	0.533000	0.62120	ACA		0.363	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		4	93	0	0	0	1	0	4	93				
FCGBP	8857	broad.mit.edu	37	19	40432973	40432973	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:40432973G>A	ENST00000221347.6	-	2	1303	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	432	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.C432C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCCGGCCGCAATCAGCAG	0.582																																						ENST00000221347.6																			1	Substitution - coding silent(1)	p.C432C(1)	kidney(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1294-1296)tgC>tgT		Fc fragment of IgG binding protein							68.0	60.0	63.0					19																	40432973		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40432973G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1296C>T	19.37:g.40432973G>A							p.C432C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1303	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		432			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.1296C>T	CCDS12546.1																																																																																				0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		26	59	0	0	0	1	0	26	59				
UBE3D	90025	broad.mit.edu	37	6	83748144	83748144	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:83748144C>G	ENST00000369747.3	-	5	780	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	220					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CCTGATGACACGGTCTCTCCC	0.333																																						ENST00000369747.3																			0											c.(658-660)Gtg>Ctg		ubiquitin protein ligase E3D							153.0	154.0	154.0					6																	83748144		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83748144C>G	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.658G>C	6.37:g.83748144C>G	ENSP00000358762:p.Val220Leu						p.V220L	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			5	780	-			220					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.658G>C	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937729	0.34189	.	.	ENSG00000118420	ENST00000369747	T	0.29397	1.57	5.58	-6.92	0.01644	.	0.768760	0.12909	N	0.429136	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.22414	0.002;0.069	B;B	0.18871	0.002;0.023	T	0.32134	-0.9918	10	0.15066	T	0.55	-17.2969	18.7052	0.91635	0.0:0.6487:0.0:0.3513	.	220;220	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	L	220	ENSP00000358762:V220L	ENSP00000358762:V220L	V	-	1	0	UBE2CBP	83804863	0.000000	0.05858	0.092000	0.20876	0.991000	0.79684	-1.502000	0.02279	-1.228000	0.02568	-0.137000	0.14449	GTG		0.333	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		18	58	0	0	0	1	0	18	58				
RYR1	6261	broad.mit.edu	37	19	38976680	38976680	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:38976680G>A	ENST00000359596.3	+	34	5385	c.5385G>A	c.(5383-5385)ccG>ccA	p.P1795P	RYR1_ENST00000360985.3_Silent_p.P1795P|RYR1_ENST00000355481.4_Silent_p.P1795P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1795	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGAGGCCCCGGCCCGCCTCA	0.716																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5383-5385)ccG>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						20.0	22.0	22.0					19																	38976680		2194	4284	6478	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976680G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5385G>A	19.37:g.38976680G>A						RYR1_ENST00000360985.3_Silent_p.P1795P|RYR1_ENST00000359596.3_Silent_p.P1795P	p.P1795P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5516	+	all_cancers(60;7.91e-06)		1795			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5385G>A	CCDS33011.1																																																																																				0.716	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	63	0	0	0	1	0	19	63				
WNK4	65266	broad.mit.edu	37	17	40947945	40947945	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:40947945G>C	ENST00000246914.5	+	16	3346	c.3325G>C	c.(3325-3327)Gtg>Ctg	p.V1109L	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1109					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCCAGCCCAGTGTGGATGAA	0.592																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3325-3327)Gtg>Ctg		WNK lysine deficient protein kinase 4							49.0	47.0	47.0					17																	40947945		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947945G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3325G>C	17.37:g.40947945G>C	ENSP00000246914:p.Val1109Leu						p.V1109L	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3346	+		Breast(137;0.000143)	1109					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3325G>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	7.478	0.648112	0.14516	.	.	ENSG00000126562	ENST00000246914	T	0.71341	-0.56	4.66	4.66	0.58398	.	0.000000	0.41605	D	0.000852	T	0.60090	0.2242	L	0.37630	1.12	0.80722	D	1	B;B	0.20887	0.049;0.01	B;B	0.20184	0.028;0.007	T	0.55891	-0.8069	10	0.27082	T	0.32	-13.9908	13.4702	0.61278	0.0:0.157:0.843:0.0	.	1109;1109	Q96J92-3;Q96J92	.;WNK4_HUMAN	L	1109	ENSP00000246914:V1109L	ENSP00000246914:V1109L	V	+	1	0	WNK4	38201471	0.998000	0.40836	0.997000	0.53966	0.324000	0.28378	3.079000	0.50104	2.412000	0.81896	0.313000	0.20887	GTG		0.592	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			24	66	0	0	0	1	0	24	66				
TIAM1	7074	broad.mit.edu	37	21	32639224	32639224	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr21:32639224C>T	ENST00000286827.3	-	5	536	c.65G>A	c.(64-66)gGg>gAg	p.G22E	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G22E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	22					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCTTGCGCCCCAGGCTGGC	0.582																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(64-66)gGg>gAg		T-cell lymphoma invasion and metastasis 1							47.0	50.0	49.0					21																	32639224		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639224C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.65G>A	21.37:g.32639224C>T	ENSP00000286827:p.Gly22Glu					TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G22E	p.G22E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	536	-			22					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.65G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298585	0.40694	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.46063	0.93;0.88	5.09	4.15	0.48705	.	0.282865	0.34460	N	0.003955	T	0.34861	0.0912	L	0.36672	1.1	0.42234	D	0.991907	P;P;P	0.36282	0.51;0.546;0.546	B;B;B	0.32864	0.154;0.073;0.073	T	0.45308	-0.9270	10	0.87932	D	0	.	17.1261	0.86714	0.0:0.8625:0.1375:0.0	.	22;22;22	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	E	22	ENSP00000286827:G22E;ENSP00000441570:G22E	ENSP00000286827:G22E	G	-	2	0	TIAM1	31561095	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.830000	0.62745	2.372000	0.80975	0.467000	0.42956	GGG		0.582	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		19	34	0	0	0	1	0	19	34				
PATE1	160065	broad.mit.edu	37	11	125616580	125616580	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:125616580G>T	ENST00000305738.5	+	2	89	c.77G>T	c.(76-78)aGa>aTa	p.R26I	PATE1_ENST00000437148.2_Missense_Mutation_p.R26I	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	26						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CTTTCAATGAGAAATGATGCA	0.433																																						ENST00000305738.5																			0				large_intestine(1)|lung(5)	6						c.(76-78)aGa>aTa		prostate and testis expressed 1							126.0	126.0	126.0					11																	125616580		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125616580G>T	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.77G>T	11.37:g.125616580G>T	ENSP00000307164:p.Arg26Ile					PATE1_ENST00000437148.2_Missense_Mutation_p.R26I	p.R26I	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN			2	89	+			26					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.77G>T	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282271	0.23392	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.33438	1.41;1.41	3.7	-5.06	0.02946	.	2.065390	0.02857	N	0.129758	T	0.21962	0.0529	L	0.36672	1.1	0.09310	N	1	P;P	0.43094	0.681;0.799	B;B	0.38616	0.158;0.277	T	0.30357	-0.9981	10	0.37606	T	0.19	-0.7067	7.0478	0.25055	0.664:0.14:0.196:0.0	.	26;26	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	I	26	ENSP00000307164:R26I;ENSP00000396056:R26I	ENSP00000307164:R26I	R	+	2	0	PATE1	125121790	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.944000	0.03913	-1.124000	0.02936	0.561000	0.74099	AGA		0.433	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		5	69	1	0	0.014758	1	0.0150338	5	69				
ZNF491	126069	broad.mit.edu	37	19	11917304	11917304	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:11917304G>T	ENST00000323169.5	+	3	867	c.536G>T	c.(535-537)aGa>aTa	p.R179I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	179					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)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATCCATGAAAGAACTCACACT	0.428																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(535-537)aGa>aTa		zinc finger protein 491							57.0	57.0	57.0					19																	11917304		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917304G>T	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.536G>T	19.37:g.11917304G>T	ENSP00000313443:p.Arg179Ile					ZNF491_ENST00000492230.1_Intron	p.R179I	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	867	+			179					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.536G>T	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	8.226	0.803602	0.16467	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.24908	1.83	0.892	0.892	0.19230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25269	0.0614	M	0.67517	2.055	0.32335	N	0.560483	P	0.47604	0.898	B	0.39904	0.313	T	0.45425	-0.9262	9	0.59425	D	0.04	.	9.3037	0.37863	0.0:0.0:1.0:0.0	.	179	Q8N8L2	ZN491_HUMAN	I	179	ENSP00000313443:R179I	ENSP00000313443:R179I	R	+	2	0	ZNF491	11778304	0.000000	0.05858	0.030000	0.17652	0.093000	0.18481	-2.260000	0.01177	0.774000	0.33427	0.407000	0.27541	AGA		0.428	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		18	62	1	0	2.35188e-11	1	2.56355e-11	18	62				
EP400	57634	broad.mit.edu	37	12	132490668	132490668	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:132490668T>C	ENST00000333577.4	+	15	3164	c.3055T>C	c.(3055-3057)Tgt>Cgt	p.C1019R	EP400_ENST00000332482.4_Missense_Mutation_p.C946R|EP400_ENST00000389562.2_Missense_Mutation_p.C982R|EP400_ENST00000389561.2_Missense_Mutation_p.C983R|EP400_ENST00000330386.6_Missense_Mutation_p.C983R			Q96L91	EP400_HUMAN	E1A binding protein p400	1019	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAGATGACTGTCCAGGCGA	0.433																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3055-3057)Tgt>Cgt		E1A binding protein p400							66.0	67.0	67.0					12																	132490668		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132490668T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3055T>C	12.37:g.132490668T>C	ENSP00000333602:p.Cys1019Arg					EP400_ENST00000389561.2_Missense_Mutation_p.C983R|EP400_ENST00000330386.6_Missense_Mutation_p.C983R|EP400_ENST00000332482.4_Missense_Mutation_p.C946R|EP400_ENST00000389562.2_Missense_Mutation_p.C982R	p.C1019R			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	15	3164	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1019			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3055T>C		.	.	.	.	.	.	.	.	.	.	T	7.776	0.708452	0.15239	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89485	-2.52;-2.5;-2.51;-2.5;-2.51	5.53	-3.94	0.04130	.	1.333880	0.04168	N	0.324299	T	0.79251	0.4414	L	0.43152	1.355	0.20196	N	0.999929	B;B;B	0.31174	0.311;0.202;0.311	B;B;B	0.27076	0.076;0.076;0.076	T	0.63589	-0.6603	10	0.16896	T	0.51	.	1.1467	0.01777	0.437:0.1593:0.1118:0.2919	.	983;983;982	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	R	1019;983;982;946;983;983;983	ENSP00000333602:C1019R;ENSP00000374212:C983R;ENSP00000374213:C982R;ENSP00000331737:C946R;ENSP00000330620:C983R	ENSP00000330620:C983R	C	+	1	0	EP400	131056621	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.079000	0.03410	-0.558000	0.06118	-0.336000	0.08194	TGT		0.433	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	38	0	0	0	1	0	14	38				
OR52B6	340980	broad.mit.edu	37	11	5602505	5602505	+	Silent	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:5602505C>A	ENST00000345043.2	+	1	399	c.399C>A	c.(397-399)gtC>gtA	p.V133V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTGCTGTCCTGCTGGCCA	0.522																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(397-399)gtC>gtA		olfactory receptor, family 52, subfamily B, member 6							116.0	115.0	116.0					11																	5602505		2201	4297	6498	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602505C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.399C>A	11.37:g.5602505C>A						HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.V133V	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	399	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	133					Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.399C>A	CCDS41611.1																																																																																				0.522	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		28	90	1	0	1.42536e-11	1	1.56933e-11	28	90				
SPRED2	200734	broad.mit.edu	37	2	65571949	65571949	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:65571949G>A	ENST00000356388.4	-	2	297	c.108C>T	c.(106-108)ggC>ggT	p.G36G	SPRED2_ENST00000443619.2_Silent_p.G33G|SPRED2_ENST00000474228.1_5'UTR	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	36	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GACTGATCCCGCCTCCTTCCT	0.527																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(106-108)ggC>ggT		sprouty-related, EVH1 domain containing 2							90.0	75.0	80.0					2																	65571949		2203	4300	6503	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65571949G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.108C>T	2.37:g.65571949G>A						SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.G33G	p.G36G	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			2	297	-			36			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.108C>T	CCDS33211.1																																																																																				0.527	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			8	41	0	0	0	1	0	8	41				
MRGPRX2	117194	broad.mit.edu	37	11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			1	Substitution - Missense(1)	p.S325L(1)	prostate(1)	NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(973-975)tCg>tTg		MAS-related GPR, member X2							61.0	62.0	61.0					11																	19076976		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19076976G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.974C>T	11.37:g.19076976G>A	ENSP00000333800:p.Ser325Leu						p.S325L	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1061	-			325					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.974C>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.813714	0.32053	.	.	ENSG00000183695	ENST00000329773	T	0.06371	3.31	3.88	-0.351	0.12602	.	1.363460	0.04968	N	0.463368	T	0.07954	0.0199	M	0.74647	2.275	0.09310	N	1	P	0.43826	0.818	B	0.36289	0.221	T	0.34502	-0.9826	10	0.72032	D	0.01	.	1.1432	0.01769	0.2073:0.1748:0.4386:0.1794	.	325	Q96LB1	MRGX2_HUMAN	L	325	ENSP00000333800:S325L	ENSP00000333800:S325L	S	-	2	0	MRGPRX2	19033552	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.196000	0.09532	-0.043000	0.13513	0.650000	0.86243	TCG		0.537	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		31	99	0	0	0	1	0	31	99				
CNTNAP5	129684	broad.mit.edu	37	2	125521587	125521587	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:125521587A>T	ENST00000431078.1	+	16	2757	c.2393A>T	c.(2392-2394)gAa>gTa	p.E798V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	798	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTTATACAGAAGCCTCTTAC	0.423																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2392-2394)gAa>gTa		contactin associated protein-like 5							131.0	123.0	126.0					2																	125521587		1854	4095	5949	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521587A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2393A>T	2.37:g.125521587A>T	ENSP00000399013:p.Glu798Val						p.E798V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2757	+			798			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2393A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678226	0.47886	.	.	ENSG00000155052	ENST00000431078	T	0.48522	0.81	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000079	T	0.46483	0.1395	M	0.66506	2.035	0.58432	D	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.41088	-0.9528	10	0.44086	T	0.13	.	11.4957	0.50406	0.8502:0.1498:0.0:0.0	.	798	Q8WYK1	CNTP5_HUMAN	V	798	ENSP00000399013:E798V	ENSP00000399013:E798V	E	+	2	0	CNTNAP5	125238057	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.063000	0.71162	2.263000	0.75096	0.533000	0.62120	GAA		0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			21	59	0	0	0	1	0	21	59				
CACNG4	27092	broad.mit.edu	37	17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A	rs576033468		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.001					ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(397-399)cGc>cAc		calcium channel, voltage-dependent, gamma subunit 4							99.0	85.0	90.0					17																	65021069		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021069G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.398G>A	17.37:g.65021069G>A	ENSP00000262138:p.Arg133His						p.R133H	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	400	+	all_cancers(12;9.86e-11)		133					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.398G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668071	0.47677	.	.	ENSG00000075461	ENST00000262138	D	0.88664	-2.41	4.81	3.83	0.44106	.	0.294943	0.41097	D	0.000949	T	0.80486	0.4632	N	0.16368	0.405	0.40796	D	0.983295	P	0.49961	0.93	B	0.40741	0.339	T	0.80165	-0.1496	10	0.32370	T	0.25	-3.4274	15.337	0.74266	0.0:0.1405:0.8595:0.0	.	133	Q9UBN1	CCG4_HUMAN	H	133	ENSP00000262138:R133H	ENSP00000262138:R133H	R	+	2	0	CACNG4	62451531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	1.136000	0.42199	0.561000	0.74099	CGC		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		4	100	0	0	0	1	0	4	100				
PGAP2	27315	broad.mit.edu	37	11	3838716	3838716	+	Intron	SNP	T	T	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:3838716T>A	ENST00000463452.2	+	2	248				PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Missense_Mutation_p.I100N|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.I100N|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000300730.6_Intron|AC090587.2_ENST00000507938.1_RNA	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TTCTGCATCATCTGGTCCCTG	0.602																																						ENST00000278243.4																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(298-300)aTc>aAc		post-GPI attachment to proteins 2							145.0	129.0	135.0					11																	3838716		2201	4298	6499	SO:0001627	intron_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3838716T>A	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+6062T>A	11.37:g.3838716T>A						PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.I100N|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000465307.2_Intron	p.I100N	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN			3	500	+			100					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	c.299T>A	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.79|15.79	2.937595|2.937595	0.52972|0.52972	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872|ENST00000532535;ENST00000464906	T;T|.	0.49720|.	0.77;0.77|.	5.39|5.39	4.26|4.26	0.50523|0.50523	.|.	0.104089|.	0.37623|.	N|.	0.002005|.	T|T	0.45236|0.45236	0.1332|0.1332	L|L	0.34521|0.34521	1.04|1.04	0.47819|0.47819	D|D	0.999524|0.999524	P|.	0.36753|.	0.568|.	B|.	0.34931|.	0.192|.	T|T	0.26360|0.26360	-1.0105|-1.0105	10|5	0.66056|.	D|.	0.02|.	-20.4763|-20.4763	7.8953|7.8953	0.29702|0.29702	0.0:0.0938:0.0:0.9062|0.0:0.0938:0.0:0.9062	.|.	100|.	Q9UHJ9|.	PGAP2_HUMAN|.	N|T	100;100;40|113;130	ENSP00000380188:I100N;ENSP00000278243:I100N|.	ENSP00000278243:I100N|.	I|S	+|+	2|1	0|0	PGAP2|PGAP2	3795292|3795292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.723000|4.723000	0.61965|0.61965	0.876000|0.876000	0.35872|0.35872	0.528000|0.528000	0.53228|0.53228	ATC|TCT		0.602	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			23	50	0	0	0	1	0	23	50				
TACR1	6869	broad.mit.edu	37	2	75347713	75347713	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:75347713T>G	ENST00000305249.5	-	2	1336	c.571A>C	c.(571-573)Att>Ctt	p.I191L	TACR1_ENST00000409848.3_Missense_Mutation_p.I191L|TACR1_ENST00000497764.1_5'UTR	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	191					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TTCTCATAAATCTTGTTCGGA	0.522																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(571-573)Att>Ctt		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						79.0	69.0	72.0					2																	75347713		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75347713T>G	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.571A>C	2.37:g.75347713T>G	ENSP00000303522:p.Ile191Leu					TACR1_ENST00000409848.3_Missense_Mutation_p.I191L|TACR1_ENST00000497764.1_5'UTR	p.I191L	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			2	1336	-			191					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.571A>C	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	T	8.477	0.858786	0.17178	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.36157	1.27;1.27	5.67	0.436	0.16549	GPCR, rhodopsin-like superfamily (1);	0.590344	0.19290	N	0.117938	T	0.14614	0.0353	N	0.05306	-0.075	0.22666	N	0.998879	B	0.02656	0.0	B	0.04013	0.001	T	0.30534	-0.9975	10	0.11182	T	0.66	.	9.6417	0.39844	0.0:0.2757:0.0:0.7243	.	191	P25103	NK1R_HUMAN	L	191	ENSP00000303522:I191L;ENSP00000386448:I191L	ENSP00000303522:I191L	I	-	1	0	TACR1	75201221	0.001000	0.12720	0.986000	0.45419	0.996000	0.88848	0.016000	0.13377	0.135000	0.18707	0.533000	0.62120	ATT		0.522	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		37	42	0	0	0	1	0	37	42				
FAM135B	51059	broad.mit.edu	37	8	139149396	139149396	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:139149396G>A	ENST00000395297.1	-	19	4179	c.4009C>T	c.(4009-4011)Cac>Tac	p.H1337Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1337										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTGTGTGTCTGTCTTTG	0.403										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4009-4011)Cac>Tac		family with sequence similarity 135, member B							148.0	145.0	146.0					8																	139149396		1858	4108	5966	SO:0001583	missense	51059							g.chr8:139149396G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4009C>T	8.37:g.139149396G>A	ENSP00000378710:p.His1337Tyr	HNSCC(54;0.14)					p.H1337Y	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		19	4179	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1337					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4009C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836588	0.71373	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	6.07	5.2	0.72013	.	0.192964	0.46442	N	0.000290	T	0.14141	0.0342	N	0.25647	0.755	0.39943	D	0.974438	B	0.18461	0.028	B	0.15870	0.014	T	0.03773	-1.1005	10	0.46703	T	0.11	-4.1907	14.5982	0.68422	0.0695:0.0:0.9305:0.0	.	1337	Q49AJ0	F135B_HUMAN	Y	1337	ENSP00000378710:H1337Y	ENSP00000378710:H1337Y	H	-	1	0	FAM135B	139218578	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.196000	0.65136	1.581000	0.49865	0.655000	0.94253	CAC		0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	104	0	0	0	1	0	14	104				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	324	1	0	0.000157383	1	0.000163379	5	324				
CCDC88B	283234	broad.mit.edu	37	11	64111483	64111483	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:64111483G>C	ENST00000356786.5	+	14	1514	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	490						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTGCTGGAGGCACCGAGAG	0.662																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1468-1470)gaG>gaC		coiled-coil domain containing 88B							28.0	29.0	29.0					11																	64111483		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111483G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1470G>C	11.37:g.64111483G>C	ENSP00000349238:p.Glu490Asp					CCDC88B_ENST00000463837.1_3'UTR	p.E490D	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1514	+			490					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1470G>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	18.68	3.675831	0.67928	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.21191	2.02	4.09	2.09	0.27110	.	.	.	.	.	T	0.28499	0.0705	L	0.32530	0.975	0.80722	D	1	D;B;D	0.63880	0.993;0.336;0.993	D;B;D	0.70016	0.967;0.049;0.967	T	0.03493	-1.1031	9	0.66056	D	0.02	.	5.8379	0.18617	0.1139:0.198:0.6881:0.0	.	490;139;490	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	D	490	ENSP00000349238:E490D	ENSP00000349238:E490D	E	+	3	2	CCDC88B	63868059	1.000000	0.71417	0.973000	0.42090	0.241000	0.25554	1.932000	0.40143	0.405000	0.25532	0.456000	0.33151	GAG		0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		6	30	0	0	0	1	0	6	30				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818961	159818961	+	RNA	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:159818961C>T	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TCCAGTGTCACGCCCCTGTGA	0.483																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159818961C>T	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818961C>T														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.483	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			19	114	0	0	0	1	0	19	114				
MED13	9969	broad.mit.edu	37	17	60045413	60045413	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:60045413G>A	ENST00000397786.2	-	18	4250	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1392					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTGCAGTAAGATCTCTAAAA	0.348																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4174-4176)Ctt>Ttt		mediator complex subunit 13							125.0	114.0	118.0					17																	60045413		1840	4095	5935	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60045413G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4174C>T	17.37:g.60045413G>A	ENSP00000380888:p.Leu1392Phe						p.L1392F	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			18	4250	-			1392					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.4174C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119771	0.77323	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.72942	-0.7	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86081	0.1544	10	0.87932	D	0	-10.321	19.2446	0.93896	0.0:0.0:1.0:0.0	.	1392	Q9UHV7	MED13_HUMAN	F	1392;1391	ENSP00000380888:L1392F	ENSP00000262436:L1391F	L	-	1	0	MED13	57400195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	2.535000	0.85469	0.655000	0.94253	CTT		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		21	56	0	0	0	1	0	21	56				
TMEM117	84216	broad.mit.edu	37	12	44782239	44782239	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:44782239C>A	ENST00000266534.3	+	8	1456	c.1329C>A	c.(1327-1329)agC>agA	p.S443R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.S339R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	443						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAGAACATAGCAAAGACATGG	0.413																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1327-1329)agC>agA		transmembrane protein 117							123.0	121.0	122.0					12																	44782239		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782239C>A	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1329C>A	12.37:g.44782239C>A	ENSP00000266534:p.Ser443Arg					TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.S339R|TMEM117_ENST00000546978.1_3'UTR	p.S443R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1456	+	Lung SC(27;0.192)		443						Missense_Mutation	SNP	ENST00000266534.3	37	c.1329C>A	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314457	0.60524	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.54071	0.59	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.47716	1.5	0.40509	D	0.980726	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.986	T	0.68580	-0.5371	10	0.87932	D	0	-20.5441	12.2854	0.54789	0.0:0.9181:0.0:0.0819	.	339;443	F5H3Q2;Q9H0C3	.;TM117_HUMAN	R	443;339;191	ENSP00000266534:S443R	ENSP00000266534:S443R	S	+	3	2	TMEM117	43068506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.878000	0.56130	1.412000	0.46977	0.650000	0.86243	AGC		0.413	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		23	80	1	0	2.98393e-07	1	3.18871e-07	23	80				
MECOM	2122	broad.mit.edu	37	3	168833867	168833867	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:168833867C>T	ENST00000464456.1	-	7	2429	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	MECOM_ENST00000460814.1_Missense_Mutation_p.G410D|MECOM_ENST00000392736.3_Missense_Mutation_p.G410D|MECOM_ENST00000494292.1_Missense_Mutation_p.G598D|MECOM_ENST00000472280.1_Missense_Mutation_p.G411D|MECOM_ENST00000433243.2_Missense_Mutation_p.G411D|MECOM_ENST00000264674.3_Missense_Mutation_p.G475D|MECOM_ENST00000468789.1_Missense_Mutation_p.G410D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGATCAGAGCCCGAGGTTGT	0.418																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1228-1230)gGc>gAc		MDS1 and EVI1 complex locus							271.0	237.0	249.0					3																	168833867		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833867C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1229G>A	3.37:g.168833867C>T	ENSP00000419770:p.Gly410Asp					MECOM_ENST00000433243.2_Missense_Mutation_p.G411D|MECOM_ENST00000494292.1_Missense_Mutation_p.G598D|MECOM_ENST00000460814.1_Missense_Mutation_p.G410D|MECOM_ENST00000472280.1_Missense_Mutation_p.G411D|MECOM_ENST00000392736.3_Missense_Mutation_p.G410D|MECOM_ENST00000468789.1_Missense_Mutation_p.G410D|MECOM_ENST00000264674.3_Missense_Mutation_p.G475D	p.G410D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2429	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1229G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775065	0.70107	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.08282	3.18;3.16;3.12;3.26;3.12;3.16;3.11;3.26	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.29288	0.0729	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.983	P;D;D;D;P	0.97110	0.893;1.0;0.999;1.0;0.784	T	0.00057	-1.2174	10	0.72032	D	0.01	-11.411	20.5568	0.99304	0.0:1.0:0.0:0.0	.	598;411;598;475;410	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	475;410;410;411;598;410;410;411	ENSP00000264674:G475D;ENSP00000376493:G410D;ENSP00000419770:G410D;ENSP00000420048:G411D;ENSP00000417899:G598D;ENSP00000419995:G410D;ENSP00000420466:G410D;ENSP00000394302:G411D	ENSP00000264674:G475D	G	-	2	0	MECOM	170316561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GGC		0.418	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		9	48	0	0	0	1	0	9	48				
TWSG1	57045	broad.mit.edu	37	18	9360008	9360008	+	Silent	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:9360008C>G	ENST00000262120.5	+	3	353	c.162C>G	c.(160-162)tcC>tcG	p.S54S	TWSG1_ENST00000581641.1_Silent_p.S54S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	54	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GCAATTGCTCCTGCTGTAAGG	0.438																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(160-162)tcC>tcG		twisted gastrulation BMP signaling modulator 1							120.0	113.0	115.0					18																	9360008		2203	4300	6503	SO:0001819	synonymous_variant	57045							g.chr18:9360008C>G	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.162C>G	18.37:g.9360008C>G						TWSG1_ENST00000581641.1_Silent_p.S54S	p.S54S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			3	353	+			54			Cys-rich.		B2RE08|D3DUH9|Q8NBI7|Q96K46	Silent	SNP	ENST00000262120.5	37	c.162C>G	CCDS11844.1																																																																																				0.438	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			78	58	0	0	0	1	0	78	58				
POU2F2	5452	broad.mit.edu	37	19	42599578	42599578	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:42599578C>T	ENST00000526816.2	-	11	1006	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	POU2F2_ENST00000529067.1_Missense_Mutation_p.A315T|POU2F2_ENST00000342301.4_Missense_Mutation_p.A331T|POU2F2_ENST00000389341.5_Missense_Mutation_p.A315T|POU2F2_ENST00000529952.1_Missense_Mutation_p.A331T|POU2F2_ENST00000560558.1_Missense_Mutation_p.A276T|POU2F2_ENST00000560398.1_Missense_Mutation_p.A337T|POU2F2_ENST00000533720.1_Missense_Mutation_p.A315T			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	331					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCTGCTCGGCGATCAGCAGG	0.647																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(943-945)Gcc>Acc		POU class 2 homeobox 2							53.0	50.0	51.0					19																	42599578		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42599578C>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.991G>A	19.37:g.42599578C>T	ENSP00000431603:p.Ala331Thr					POU2F2_ENST00000529952.1_Missense_Mutation_p.A331T|POU2F2_ENST00000560558.1_Missense_Mutation_p.A276T|POU2F2_ENST00000560398.1_Missense_Mutation_p.A337T|POU2F2_ENST00000533720.1_Missense_Mutation_p.A315T|POU2F2_ENST00000529067.1_Missense_Mutation_p.A315T|POU2F2_ENST00000526816.2_Missense_Mutation_p.A331T|POU2F2_ENST00000342301.4_Missense_Mutation_p.A331T	p.A315T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			11	1009	-		Prostate(69;0.059)	331					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.943G>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980365	0.92982	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	3.99	3.99	0.46301	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.059957	0.64402	D	0.000003	D	0.99312	0.9759	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	P;D;D	0.79784	0.873;0.993;0.924	D	0.98397	1.0566	10	0.87932	D	0	.	15.3987	0.74818	0.0:1.0:0.0:0.0	.	315;331;315	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	T	315;331;331;315;330;315;331	ENSP00000373992:A315T;ENSP00000339369:A331T;ENSP00000437221:A315T;ENSP00000437224:A315T;ENSP00000436988:A331T	ENSP00000292077:A331T	A	-	1	0	POU2F2	47291418	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.600000	0.82769	2.214000	0.71695	0.655000	0.94253	GCC		0.647	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			23	51	0	0	0	1	0	23	51				
SNTG2	54221	broad.mit.edu	37	2	1241752	1241752	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:1241752C>T	ENST00000308624.5	+	10	941	c.812C>T	c.(811-813)gCg>gTg	p.A271V	SNTG2_ENST00000407292.1_Missense_Mutation_p.A144V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	271					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGCTGCGGGCGGTCTCAGCC	0.572																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(811-813)gCg>gTg		syntrophin, gamma 2							30.0	34.0	33.0					2																	1241752		2185	4291	6476	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241752C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.812C>T	2.37:g.1241752C>T	ENSP00000311837:p.Ala271Val					SNTG2_ENST00000407292.1_Missense_Mutation_p.A144V	p.A271V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	941	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	271					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.812C>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	2.727	-0.265194	0.05754	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.59083	0.29;0.29	4.68	2.88	0.33553	.	0.306995	0.34777	N	0.003689	T	0.55162	0.1903	M	0.65975	2.015	0.09310	N	0.999997	D;P	0.55605	0.972;0.915	P;B	0.45099	0.469;0.207	T	0.50250	-0.8850	10	0.44086	T	0.13	.	9.1889	0.37187	0.0:0.8178:0.0:0.1822	.	144;271	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	V	271;144	ENSP00000311837:A271V;ENSP00000385020:A144V	ENSP00000311837:A271V	A	+	2	0	SNTG2	1224303	0.942000	0.31987	0.000000	0.03702	0.003000	0.03518	3.153000	0.50685	0.512000	0.28257	-0.140000	0.14226	GCG		0.572	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		5	22	0	0	0	1	0	5	22				
HIST1H2AK	8330	broad.mit.edu	37	6	27806004	27806004	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:27806004G>A	ENST00000330180.2	-	1	113	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	38						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAGCGTAGTTGCCCTTGCGGA	0.667																																						ENST00000330180.2																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(112-114)ggC>ggT		histone cluster 1, H2ak							40.0	43.0	42.0					6																	27806004		2203	4300	6503	SO:0001819	synonymous_variant	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27806004G>A	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.114C>T	6.37:g.27806004G>A							p.G38G	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN			1	113	-			38					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000330180.2	37	c.114C>T	CCDS4632.1																																																																																				0.667	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		23	69	0	0	0	1	0	23	69				
SNHG14	104472715	broad.mit.edu	37	15	25417786	25417786	+	RNA	SNP	C	C	A	rs199652866		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr15:25417786C>A	ENST00000441592.2	+	0	0				SNORD115-1_ENST00000364961.1_RNA|SNORD115-3_ENST00000363100.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CGGGTTGGGTCGATGATGAGA	0.522																																						ENST00000549301.1																			0																				194.0	204.0	201.0					15																	25417786		876	1991	2867			104472715							g.chr15:25417786C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417786C>A						SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA								0	503	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.522	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			46	168	1	0	1.5731e-28	1	1.86378e-28	46	168				
PCYOX1L	78991	broad.mit.edu	37	5	148747932	148747932	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:148747932G>A	ENST00000274569.4	+	6	1262	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	PCYOX1L_ENST00000514349.1_Silent_p.K310K	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	400					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCCCCAAGCCCCTCTTTC	0.602											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(928-930)aaG>aaA		prenylcysteine oxidase 1 like							86.0	91.0	89.0					5																	148747932		2203	4300	6503	SO:0001819	synonymous_variant	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747932G>A		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1200G>A	5.37:g.148747932G>A			OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719	PCYOX1L_ENST00000274569.4_Silent_p.K400K	p.K310K			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1509	+			400					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Silent	SNP	ENST00000274569.4	37	c.930G>A	CCDS4296.1																																																																																				0.602	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		28	161	0	0	0	1	0	28	161				
NME7	29922	broad.mit.edu	37	1	169267911	169267911	+	Silent	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:169267911T>C	ENST00000367811.3	-	6	787	c.531A>G	c.(529-531)ggA>ggG	p.G177G	NME7_ENST00000472647.1_Silent_p.G141G|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	177					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTTGCAGGTCCCAGCAGTC	0.438																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(529-531)ggA>ggG		NME/NM23 family member 7							100.0	99.0	99.0					1																	169267911		2203	4300	6503	SO:0001819	synonymous_variant	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169267911T>C	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.531A>G	1.37:g.169267911T>C						NME7_ENST00000472647.1_Silent_p.G141G|NME7_ENST00000469474.1_5'UTR	p.G177G	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			6	787	-	all_hematologic(923;0.208)		177					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	ENST00000367811.3	37	c.531A>G	CCDS1277.1																																																																																				0.438	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		18	40	0	0	0	1	0	18	40				
GLTSCR2	29997	broad.mit.edu	37	19	48260396	48260396	+	IGR	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:48260396G>A	ENST00000246802.5	+	0	1528				SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2							intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCCCCGTGGCGCACAAGCATG	0.607																																					Colon(58;613 1041 9473 10089 15241)	ENST00000602048.1																			0																																																	SO:0001628	intergenic_variant	106144593							g.chr19:48260396G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5			19.37:g.48260396G>A														0	436	-								Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	RNA	SNP	ENST00000246802.5	37		CCDS12705.1																																																																																				0.607	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	28	0	0	0	1	0	3	28				
MMP16	4325	broad.mit.edu	37	8	89130998	89130998	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:89130998A>G	ENST00000286614.6	-	5	1083	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	268					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGTACTGGTAAAATGGAGCC	0.413																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(802-804)Tac>Cac		matrix metallopeptidase 16 (membrane-inserted)							165.0	146.0	152.0					8																	89130998		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89130998A>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.802T>C	8.37:g.89130998A>G	ENSP00000286614:p.Tyr268His					MMP16_ENST00000544227.1_5'UTR	p.Y268H	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			5	1083	-			268					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.802T>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541184	0.85917	.	.	ENSG00000156103	ENST00000286614	T	0.26660	1.72	5.19	5.19	0.71726	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.162586	0.56097	D	0.000034	T	0.61800	0.2376	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73597	-0.3932	10	0.87932	D	0	.	15.0396	0.71777	1.0:0.0:0.0:0.0	.	268;268	P51512-2;P51512	.;MMP16_HUMAN	H	268	ENSP00000286614:Y268H	ENSP00000286614:Y268H	Y	-	1	0	MMP16	89200114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.952000	0.56665	0.455000	0.32223	TAC		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		28	50	0	0	0	1	0	28	50				
ADCY1	107	broad.mit.edu	37	7	45688354	45688354	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:45688354A>T	ENST00000297323.7	+	5	1128	c.1106A>T	c.(1105-1107)cAc>cTc	p.H369L	ADCY1_ENST00000432715.1_Missense_Mutation_p.H144L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	369					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACCATGCCCACTGCTGTGTG	0.567																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1105-1107)cAc>cTc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						111.0	86.0	95.0					7																	45688354		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688354A>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1106A>T	7.37:g.45688354A>T	ENSP00000297323:p.His369Leu					ADCY1_ENST00000432715.1_Missense_Mutation_p.H144L	p.H369L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1128	+			369					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1106A>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384658	0.61845	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.80480	-1.38;-1.38	4.34	4.34	0.51931	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	L	0.43646	1.37	0.80722	D	1	B;B	0.33135	0.399;0.219	B;B	0.26770	0.064;0.073	T	0.64613	-0.6366	10	0.12430	T	0.62	.	11.5212	0.50551	1.0:0.0:0.0:0.0	.	369;144	Q08828;C9J1J0	ADCY1_HUMAN;.	L	144;369;369	ENSP00000392721:H144L;ENSP00000297323:H369L	ENSP00000297323:H369L	H	+	2	0	ADCY1	45654879	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.434000	0.90294	1.820000	0.53075	0.459000	0.35465	CAC		0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		18	57	0	0	0	1	0	18	57				
PARD3	56288	broad.mit.edu	37	10	34671814	34671814	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:34671814G>A	ENST00000374789.3	-	9	1378	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	PARD3_ENST00000545260.1_Silent_p.P307P|PARD3_ENST00000374794.3_Silent_p.P307P|PARD3_ENST00000350537.4_Silent_p.P351P|PARD3_ENST00000374773.1_Silent_p.P351P|PARD3_ENST00000544292.1_Silent_p.P81P|PARD3_ENST00000346874.4_Silent_p.P351P|PARD3_ENST00000545693.1_Silent_p.P351P|PARD3_ENST00000374788.3_Silent_p.P351P|PARD3_ENST00000340077.5_Silent_p.P351P|PARD3_ENST00000374790.3_Silent_p.P307P|PARD3_ENST00000374776.1_Silent_p.P351P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	351	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCAAATGATGGGTGTACGCA	0.403																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1051-1053)ccC>ccT		par-3 family cell polarity regulator							150.0	139.0	142.0					10																	34671814		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671814G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1053C>T	10.37:g.34671814G>A						PARD3_ENST00000350537.4_Silent_p.P351P|PARD3_ENST00000374794.3_Silent_p.P307P|PARD3_ENST00000545260.1_Silent_p.P307P|PARD3_ENST00000545693.1_Silent_p.P351P|PARD3_ENST00000346874.4_Silent_p.P351P|PARD3_ENST00000374773.1_Silent_p.P351P|PARD3_ENST00000374788.3_Silent_p.P351P|PARD3_ENST00000340077.5_Silent_p.P351P|PARD3_ENST00000544292.1_Silent_p.P81P|PARD3_ENST00000374776.1_Silent_p.P351P|PARD3_ENST00000374790.3_Silent_p.P307P	p.P351P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1378	-		Breast(68;0.0707)	351			PDZ 1.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.1053C>T	CCDS7178.1																																																																																				0.403	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	181	0	0	0	1	0	4	181				
HIST1H3A	8350	broad.mit.edu	37	6	26021038	26021038	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:26021038C>T	ENST00000357647.3	+	1	321	c.321C>T	c.(319-321)gaC>gaT	p.D107D	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	107					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTTGAGGACACTAACCTGT	0.587																																						ENST00000357647.3																			0				endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(319-321)gaC>gaT		histone cluster 1, H3a							56.0	56.0	56.0					6																	26021038		2203	4300	6503	SO:0001819	synonymous_variant	8350				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26021038C>T	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.321C>T	6.37:g.26021038C>T							p.D107D	NM_003529.2	NP_003520.1	P68431	H31_HUMAN			1	321	+			107					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000357647.3	37	c.321C>T	CCDS4570.1																																																																																				0.587	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		20	52	0	0	0	1	0	20	52				
KIAA1551	55196	broad.mit.edu	37	12	32134611	32134611	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:32134611C>T	ENST00000312561.4	+	4	1136	c.722C>T	c.(721-723)tCa>tTa	p.S241L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	241																	CCACATACATCATTGCAAGTT	0.388																																						ENST00000312561.4																			0											c.(721-723)tCa>tTa		KIAA1551							61.0	62.0	62.0					12																	32134611		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32134611C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.722C>T	12.37:g.32134611C>T	ENSP00000310338:p.Ser241Leu					KIAA1551_ENST00000535596.1_Intron	p.S241L	NM_018169.3	NP_060639.3					4	1136	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.722C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997676	0.35226	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.09723	3.61;2.95	5.68	4.76	0.60689	.	0.960436	0.08486	N	0.938612	T	0.10035	0.0246	L	0.36672	1.1	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.36866	-0.9730	9	.	.	.	.	7.4366	0.27158	0.0:0.7913:0.0:0.2087	.	241	Q9HCM1	CL035_HUMAN	L	241	ENSP00000310338:S241L;ENSP00000370442:S241L	.	S	+	2	0	C12orf35	32025878	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.804000	0.27098	1.301000	0.44836	0.650000	0.86243	TCA		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		10	70	0	0	0	1	0	10	70				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	42	0	0	0	1	0	6	42				
NEURL2	140825	broad.mit.edu	37	20	44518946	44518946	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:44518946C>A	ENST00000372518.4	-	1	980	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	229	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACGTCCACCACCGCGTAGAGG	0.667											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(685-687)Gtg>Ttg		neuralized E3 ubiquitin protein ligase 2							33.0	36.0	35.0					20																	44518946		2203	4299	6502	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44518946C>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.685G>T	20.37:g.44518946C>A	ENSP00000361596:p.Val229Leu		OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	924		p.V229L	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	980	-		Myeloproliferative disorder(115;0.0122)	229			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.685G>T	CCDS13384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.774777|4.774777	0.90108|0.90108	.|.	.|.	ENSG00000124257|ENSG00000124257	ENST00000545238|ENST00000372518	.|T	.|0.64085	.|-0.08	4.83|4.83	4.83|4.83	0.62350|0.62350	.|NEUZ (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72993|0.72993	0.3530|0.3530	L|L	0.43646|0.43646	1.37|1.37	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.72625	.|0.978	T|T	0.72207|0.72207	-0.4360|-0.4360	5|10	.|0.41790	.|T	.|0.15	-24.1026|-24.1026	18.1275|18.1275	0.89590|0.89590	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|229	.|Q9BR09	.|NEUL2_HUMAN	V|L	57|229	.|ENSP00000361596:V229L	.|ENSP00000361596:V229L	G|V	-|-	2|1	0|0	NEURL2|NEURL2	43952353|43952353	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.659000|0.659000	0.38960|0.38960	6.995000|6.995000	0.76257|0.76257	2.514000|2.514000	0.84764|0.84764	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.667	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			13	59	1	0	7.93312e-07	1	8.39524e-07	13	59				
ARHGAP28	79822	broad.mit.edu	37	18	6890051	6890051	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:6890051C>T	ENST00000383472.4	+	13	1805	c.1701C>T	c.(1699-1701)cgC>cgT	p.R567R	ARHGAP28_ENST00000262227.3_Silent_p.R515R|ARHGAP28_ENST00000314319.3_Silent_p.R408R|ARHGAP28_ENST00000418986.1_Silent_p.R408R|ARHGAP28_ENST00000419673.2_Silent_p.R408R|ARHGAP28_ENST00000400091.2_Silent_p.R567R|ARHGAP28_ENST00000532996.1_Silent_p.R390R|ARHGAP28_ENST00000531294.1_Silent_p.R403R			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	567	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACATCATCCGCCTAATGCTTA	0.443																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(1222-1224)cgC>cgT		Rho GTPase activating protein 28							118.0	113.0	115.0					18																	6890051		2203	4300	6503	SO:0001819	synonymous_variant	79822				signal transduction	intracellular		g.chr18:6890051C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1701C>T	18.37:g.6890051C>T						ARHGAP28_ENST00000418986.1_Silent_p.R408R|ARHGAP28_ENST00000383472.4_Silent_p.R567R|ARHGAP28_ENST00000400091.2_Silent_p.R567R|ARHGAP28_ENST00000314319.3_Silent_p.R408R|ARHGAP28_ENST00000531294.1_Silent_p.R403R|ARHGAP28_ENST00000532996.1_Silent_p.R390R|ARHGAP28_ENST00000262227.3_Silent_p.R515R	p.R408R	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			12	1441	+		Colorectal(10;0.168)	390					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	ENST00000383472.4	37	c.1224C>T																																																																																					0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		75	189	0	0	0	1	0	75	189				
ERICH6	131831	broad.mit.edu	37	3	150377894	150377894	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:150377894C>T	ENST00000295910.6	-	14	1829	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	FAM194A_ENST00000491361.1_Missense_Mutation_p.D447N	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGAAGAAGGTCATCTCCACTT	0.433																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1777-1779)Gac>Aac		family with sequence similarity 194, member A							108.0	110.0	109.0					3																	150377894		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150377894C>T																												ENST00000295910.6:c.1777G>A	3.37:g.150377894C>T	ENSP00000295910:p.Asp593Asn					FAM194A_ENST00000491361.1_Missense_Mutation_p.D447N	p.D593N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			14	1829	-			593						Missense_Mutation	SNP	ENST00000295910.6	37	c.1777G>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045197	0.75846	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.11930	2.73;2.73	5.22	5.22	0.72569	.	0.086621	0.49916	D	0.000138	T	0.36552	0.0971	M	0.63843	1.955	0.39294	D	0.964797	D	0.89917	1.0	D	0.79784	0.993	T	0.11941	-1.0567	10	0.66056	D	0.02	-39.202	17.98	0.89138	0.0:1.0:0.0:0.0	.	593	Q7L0X2	F194A_HUMAN	N	593;447;551	ENSP00000295910:D593N;ENSP00000419366:D447N	ENSP00000295910:D593N	D	-	1	0	FAM194A	151860584	0.998000	0.40836	0.947000	0.38551	0.437000	0.31866	4.875000	0.63072	2.608000	0.88229	0.650000	0.86243	GAC		0.433	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			36	92	0	0	0	1	0	36	92				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	67	0	0	0	1	0	6	67				
PLEKHH2	130271	broad.mit.edu	37	2	43927382	43927382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:43927382C>T	ENST00000282406.4	+	8	1395	c.1285C>T	c.(1285-1287)Caa>Taa	p.Q429*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	429					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAAGGAACACAATTAGTGCC	0.448																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1285-1287)Caa>Taa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							121.0	113.0	116.0					2																	43927382		2203	4300	6503	SO:0001587	stop_gained	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927382C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1285C>T	2.37:g.43927382C>T	ENSP00000282406:p.Gln429*						p.Q429*	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			8	1395	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	429					Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	c.1285C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	37	6.102912	0.97286	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.59	3.72	0.42706	.	0.542699	0.19420	N	0.114738	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	0.0142	15.072	0.72046	0.0:0.7305:0.2695:0.0	.	.	.	.	X	429	.	ENSP00000282406:Q429X	Q	+	1	0	PLEKHH2	43780886	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	1.070000	0.30653	0.665000	0.31066	0.563000	0.77884	CAA		0.448	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		38	105	0	0	0	1	0	38	105				
SP3	6670	broad.mit.edu	37	2	174828561	174828561	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:174828561T>C	ENST00000310015.6	-	3	737	c.207A>G	c.(205-207)atA>atG	p.I69M	SP3_ENST00000418194.2_Missense_Mutation_p.I1M|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Intron	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	69	Ala-rich.			I -> M (in Ref. 2; AAR30505). {ECO:0000305}.	B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATGGCGGCCCTATCTTGCTGC	0.766																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(205-207)atA>atG		Sp3 transcription factor							9.0	11.0	10.0					2																	174828561		2067	4112	6179	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174828561T>C	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.207A>G	2.37:g.174828561T>C	ENSP00000310301:p.Ile69Met					SP3_ENST00000455789.2_Intron|SP3_ENST00000418194.2_Missense_Mutation_p.I1M	p.I69M	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		3	737	-			69	I -> M (in Ref. 2; AAR30505).		Ala-rich.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.207A>G	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338961	0.41398	.	.	ENSG00000172845	ENST00000310015;ENST00000418194	T;T	0.19250	2.16;3.34	2.4	1.09	0.20402	.	0.447842	0.18672	U	0.134420	T	0.19005	0.0456	L	0.46157	1.445	0.80722	D	1	P;P	0.50156	0.91;0.932	B;P	0.44359	0.196;0.447	T	0.02617	-1.1133	10	0.72032	D	0.01	.	6.6887	0.23160	0.0:0.0:0.4846:0.5153	.	66;69	B7ZLN9;Q02447	.;SP3_HUMAN	M	69;1	ENSP00000310301:I69M;ENSP00000406140:I1M	ENSP00000310301:I69M	I	-	3	3	SP3	174536807	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.615000	0.24329	-0.011000	0.14247	0.363000	0.22086	ATA		0.766	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		6	14	0	0	0	1	0	6	14				
ZNF518A	9849	broad.mit.edu	37	10	97916587	97916587	+	RNA	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:97916587C>T	ENST00000534948.1	+	0	1365							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACAACACAGACGAACCCATAG	0.358																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							162.0	159.0	160.0					10																	97916587		1863	4095	5958			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916587C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916587C>T										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	1365	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.358	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		21	203	0	0	0	1	0	21	203				
AVPR1A	552	broad.mit.edu	37	12	63544076	63544076	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:63544076G>T	ENST00000299178.2	-	1	646	c.541C>A	c.(541-543)Ctg>Atg	p.L181M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	181					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GGCGTGCTCAGCACGAAGCTC	0.652																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(541-543)Ctg>Atg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						50.0	53.0	52.0					12																	63544076		2202	4299	6501	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544076G>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.541C>A	12.37:g.63544076G>T	ENSP00000299178:p.Leu181Met						p.L181M	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	646	-			181						Missense_Mutation	SNP	ENST00000299178.2	37	c.541C>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772890	0.69992	.	.	ENSG00000166148	ENST00000299178	T	0.74526	-0.85	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90213	0.4266	9	.	.	.	-17.6048	17.7032	0.88301	0.0:0.0:1.0:0.0	.	181	P37288	V1AR_HUMAN	M	181	ENSP00000299178:L181M	.	L	-	1	2	AVPR1A	61830343	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.856000	0.86956	2.416000	0.81992	0.455000	0.32223	CTG		0.652	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			26	100	1	0	6.12954e-19	1	7.18408e-19	26	100				
MTTP	4547	broad.mit.edu	37	4	100542372	100542372	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:100542372G>A	ENST00000265517.5	+	17	2700	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N	MTTP_ENST00000457717.1_Missense_Mutation_p.D833N|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.D860N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	833					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GATGGACAAGGATGAAGCTCC	0.468																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2497-2499)Gat>Aat		microsomal triglyceride transfer protein	Hesperetin(DB01094)						164.0	150.0	155.0					4																	100542372		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100542372G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2497G>A	4.37:g.100542372G>A	ENSP00000265517:p.Asp833Asn					MTTP_ENST00000511045.1_Missense_Mutation_p.D860N|MTTP_ENST00000265517.5_Missense_Mutation_p.D833N|RP11-766F14.1_ENST00000508578.1_RNA	p.D833N	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	18	2753	+			833					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2497G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	4.390	0.072069	0.08436	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.61274	0.12;0.14;0.14	5.56	0.291	0.15732	.	1.021430	0.07767	N	0.951171	T	0.43033	0.1229	L	0.46157	1.445	0.09310	N	1	B;B	0.22604	0.072;0.023	B;B	0.20955	0.032;0.01	T	0.25152	-1.0140	10	0.14656	T	0.56	-9.5592	2.8657	0.05601	0.1272:0.2225:0.4213:0.229	.	860;833	E9PBP6;P55157	.;MTP_HUMAN	N	860;833;833	ENSP00000427679:D860N;ENSP00000400821:D833N;ENSP00000265517:D833N	ENSP00000265517:D833N	D	+	1	0	MTTP	100761395	0.201000	0.23410	0.014000	0.15608	0.443000	0.32047	0.387000	0.20718	-0.012000	0.14223	0.655000	0.94253	GAT		0.468	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			47	102	0	0	0	1	0	47	102				
EVPL	2125	broad.mit.edu	37	17	74005785	74005785	+	Silent	SNP	C	C	T	rs140332207		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:74005785C>T	ENST00000301607.3	-	22	3754	c.3501G>A	c.(3499-3501)gcG>gcA	p.A1167A	EVPL_ENST00000586740.1_Silent_p.A1189A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1167	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCCAGCGTCGCGTTCTTGG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3499-3501)gcG>gcA		envoplakin		C		1,4405	2.1+/-5.4	0,1,2202	47.0	42.0	44.0		3501	-4.9	0.0	17	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EVPL	NM_001988.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1167/2034	74005785	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005785C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3501G>A	17.37:g.74005785C>T						EVPL_ENST00000586740.1_Silent_p.A1189A	p.A1167A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3754	-			1167			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.3501G>A	CCDS11737.1																																																																																				0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		8	66	0	0	0	1	0	8	66				
RHOA	387	broad.mit.edu	37	3	49405978	49405978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:49405978C>A	ENST00000418115.1	-	3	544	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000422781.1_Nonsense_Mutation_p.E54*|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	54					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAAGCCAACTCTACCTGTAAT	0.463																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(160-162)Gag>Tag		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						91.0	89.0	90.0					3																	49405978		2203	4300	6503	SO:0001587	stop_gained	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49405978C>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.160G>T	3.37:g.49405978C>A	ENSP00000400175:p.Glu54*					RHOA_ENST00000422781.1_Nonsense_Mutation_p.E54*|RHOA_ENST00000454011.2_Intron	p.E54*	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	544	-			54					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Nonsense_Mutation	SNP	ENST00000418115.1	37	c.160G>T	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373994	0.95923	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6067	0.91268	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000400175:E54X	E	-	1	0	RHOA	49380982	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.675000	0.84002	2.749000	0.94314	0.551000	0.68910	GAG		0.463	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		9	78	1	0	1.12685e-05	1	1.18103e-05	9	78				
TLR4	7099	broad.mit.edu	37	9	120475765	120475765	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:120475765C>T	ENST00000355622.6	+	3	1460	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.D413D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	453					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTACCTTGACATTTCTCATA	0.393																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1357-1359)gaC>gaT		toll-like receptor 4							103.0	102.0	102.0					9																	120475765		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475765C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1359C>T	9.37:g.120475765C>T						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.D413D	p.D453D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1460	+			453					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1359C>T	CCDS6818.1																																																																																				0.393	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		18	74	0	0	0	1	0	18	74				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	47	0	0	0	1	0	5	47				
PLIN4	729359	broad.mit.edu	37	19	4512223	4512223	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:4512223G>T	ENST00000301286.3	-	3	1706	c.1707C>A	c.(1705-1707)gtC>gtA	p.V569V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	569	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACCTGTCTGGACAGCCCCCT	0.612																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1705-1707)gtC>gtA		perilipin 4							168.0	186.0	180.0					19																	4512223		2107	4224	6331	SO:0001819	synonymous_variant	729359					lipid particle|plasma membrane		g.chr19:4512223G>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1707C>A	19.37:g.4512223G>T							p.V569V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1706	-			569			27 X 33 AA approximate tandem repeat.		A6NEI2	Silent	SNP	ENST00000301286.3	37	c.1707C>A	CCDS45927.1																																																																																				0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		96	152	1	0	1.38319e-45	1	1.65679e-45	96	152				
DICER1	23405	broad.mit.edu	37	14	95572071	95572071	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:95572071G>A	ENST00000526495.1	-	21	3328	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	DICER1_ENST00000393063.1_Missense_Mutation_p.P1013S|DICER1_ENST00000541352.1_Missense_Mutation_p.P1013S|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.P1013S|DICER1_ENST00000343455.3_Missense_Mutation_p.P1013S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1013	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGCTTAAAGGAAGCGCTTTC	0.348			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(3037-3039)Cct>Tct		dicer 1, ribonuclease type III							74.0	70.0	72.0					14																	95572071		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572071G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3037C>T	14.37:g.95572071G>A	ENSP00000437256:p.Pro1013Ser					DICER1_ENST00000541352.1_Missense_Mutation_p.P1013S|DICER1_ENST00000527414.1_Missense_Mutation_p.P1013S|DICER1_ENST00000393063.1_Missense_Mutation_p.P1013S|DICER1_ENST00000343455.3_Missense_Mutation_p.P1013S|DICER1_ENST00000556045.1_5'UTR	p.P1013S			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	21	3328	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1013			PAZ.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3037C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036521	0.93630	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.53	5.43	5.43	0.79202	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.71140	-0.4679	10	0.38643	T	0.18	-20.0732	19.2379	0.93869	0.0:0.0:1.0:0.0	.	1013	Q9UPY3	DICER_HUMAN	S	1013	ENSP00000343745:P1013S;ENSP00000437256:P1013S;ENSP00000376783:P1013S;ENSP00000435681:P1013S;ENSP00000444719:P1013S	ENSP00000343745:P1013S	P	-	1	0	DICER1	94641824	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.827000	0.99397	2.551000	0.86045	0.655000	0.94253	CCT		0.348	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			5	46	0	0	0	1	0	5	46				
ACTL9	284382	broad.mit.edu	37	19	8808664	8808664	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:8808664G>A	ENST00000324436.3	-	1	508	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	130						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCAGGTGGCGCCAGATGAGC	0.687																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(388-390)Cgc>Tgc		actin-like 9							31.0	37.0	35.0					19																	8808664		2200	4295	6495	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808664G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.388C>T	19.37:g.8808664G>A	ENSP00000316674:p.Arg130Cys						p.R130C	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	508	-			130					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.388C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414312	0.42817	.	.	ENSG00000181786	ENST00000324436	D	0.97378	-4.36	3.89	-5.58	0.02512	.	0.680225	0.12843	N	0.434652	D	0.93719	0.7993	M	0.71206	2.165	0.44603	D	0.997578	B	0.06786	0.001	B	0.08055	0.003	T	0.78650	-0.2121	10	0.87932	D	0	.	3.9315	0.09288	0.3129:0.0:0.336:0.3511	.	130	Q8TC94	ACTL9_HUMAN	C	130	ENSP00000316674:R130C	ENSP00000316674:R130C	R	-	1	0	ACTL9	8669664	0.918000	0.31147	0.441000	0.26858	0.866000	0.49608	0.664000	0.25068	-0.958000	0.03622	-0.448000	0.05591	CGC		0.687	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		10	119	0	0	0	1	0	10	119				
CFAP58	159686	broad.mit.edu	37	10	106139933	106139933	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:106139933G>A	ENST00000369704.3	+	9	1454	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	CCDC147_ENST00000369703.1_Silent_p.K62K|CCDC147_ENST00000312902.5_Silent_p.K62K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		440						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATCTGGAAAAGGAGCGTGACC	0.493																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1318-1320)aaG>aaA		coiled-coil domain containing 147							124.0	109.0	114.0					10																	106139933		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106139933G>A																												ENST00000369704.3:c.1320G>A	10.37:g.106139933G>A						CCDC147_ENST00000369703.1_Silent_p.K62K|CCDC147_ENST00000312902.5_Silent_p.K62K	p.K440K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	9	1454	+		Colorectal(252;0.103)|Breast(234;0.122)	440					D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.1320G>A	CCDS31282.1																																																																																				0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			26	95	0	0	0	1	0	26	95				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	51	0	0	0	1	0	13	51				
AKAP6	9472	broad.mit.edu	37	14	33292449	33292449	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:33292449G>T	ENST00000280979.4	+	13	5600	c.5430G>T	c.(5428-5430)ttG>ttT	p.L1810F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1810					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGCCAAAATTGTCTTTGACAA	0.393																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5428-5430)ttG>ttT		A kinase (PRKA) anchor protein 6							83.0	83.0	83.0					14																	33292449		2202	4300	6502	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292449G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5430G>T	14.37:g.33292449G>T	ENSP00000280979:p.Leu1810Phe					AKAP6_ENST00000557272.1_Intron	p.L1810F	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5600	+	Breast(36;0.0388)|Prostate(35;0.15)		1810					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5430G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.986871	0.02180	.	.	ENSG00000151320	ENST00000280979	T	0.04654	3.58	5.63	-3.17	0.05202	.	1.047530	0.07458	N	0.900171	T	0.01695	0.0054	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51325	-0.8720	10	0.02654	T	1	2.3867	1.1755	0.01834	0.2115:0.1294:0.1426:0.5165	.	1810	Q13023	AKAP6_HUMAN	F	1810	ENSP00000280979:L1810F	ENSP00000280979:L1810F	L	+	3	2	AKAP6	32362200	0.757000	0.28394	0.326000	0.25389	0.996000	0.88848	0.027000	0.13621	-0.418000	0.07450	0.650000	0.86243	TTG		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		23	61	1	0	7.87624e-14	1	8.85063e-14	23	61				
SPEG	10290	broad.mit.edu	37	2	220334054	220334054	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:220334054A>T	ENST00000312358.7	+	13	3800	c.3668A>T	c.(3667-3669)cAc>cTc	p.H1223L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1223	Ig-like 6.				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)		AGCTGGTTCCACAATGGCCAC	0.642																																						ENST00000312358.7																			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.(3667-3669)cAc>cTc		SPEG complex locus							44.0	53.0	50.0					2																	220334054		2166	4258	6424	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334054A>T	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.3668A>T	2.37:g.220334054A>T	ENSP00000311684:p.His1223Leu					SPEG_ENST00000485813.1_3'UTR	p.H1223L	NM_005876.4	NP_005867.3	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)	13	3800	+		Renal(207;0.0183)	1223			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3668A>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395756	0.62177	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.39406	1.08	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000457	T	0.55641	0.1933	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.55755	-0.8091	10	0.48119	T	0.1	.	14.7663	0.69642	1.0:0.0:0.0:0.0	.	1223	Q15772	SPEG_HUMAN	L	1223	ENSP00000311684:H1223L	ENSP00000265327:H1223L	H	+	2	0	SPEG	220042298	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.340000	0.79292	2.081000	0.62600	0.533000	0.62120	CAC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		6	36	0	0	0	1	0	6	36				
MRTO4	51154	broad.mit.edu	37	1	19585249	19585249	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:19585249C>G	ENST00000330263.4	+	8	942	c.645C>G	c.(643-645)ttC>ttG	p.F215L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	215					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAAGGTTCCAGCAGATGG	0.488																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(643-645)ttC>ttG		mRNA turnover 4 homolog (S. cerevisiae)							91.0	89.0	90.0					1																	19585249		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19585249C>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.645C>G	1.37:g.19585249C>G	ENSP00000364320:p.Phe215Leu						p.F215L	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	942	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	215					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.645C>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948550	0.53186	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.53	2.07	0.26955	.	0.089995	0.85682	N	0.000000	T	0.53222	0.1783	M	0.67700	2.07	0.50171	D	0.999851	B	0.09022	0.002	B	0.15484	0.013	T	0.42068	-0.9473	9	0.09084	T	0.74	-10.4955	10.0598	0.42268	0.0:0.6843:0.0:0.3157	.	215	Q9UKD2	MRT4_HUMAN	L	215	.	ENSP00000364320:F215L	F	+	3	2	MRTO4	19457836	0.997000	0.39634	0.852000	0.33557	0.916000	0.54674	0.462000	0.21956	0.333000	0.23563	0.591000	0.81541	TTC		0.488	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		11	81	0	0	0	1	0	11	81				
OXTR	5021	broad.mit.edu	37	3	8809325	8809325	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:8809325G>A	ENST00000316793.3	-	3	1173	c.549C>T	c.(547-549)ggC>ggT	p.G183G	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	183					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	AGTCGAAGACGCCGTCAGCCA	0.667																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(547-549)ggC>ggT		oxytocin receptor	Carbetocin(DB01282)						46.0	49.0	48.0					3																	8809325		2203	4300	6503	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809325G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.549C>T	3.37:g.8809325G>A						CAV3_ENST00000472766.1_Intron	p.G183G	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1173	-			183					Q15071	Silent	SNP	ENST00000316793.3	37	c.549C>T	CCDS2570.1																																																																																				0.667	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			14	77	0	0	0	1	0	14	77				
TPST1	8460	broad.mit.edu	37	7	65751528	65751528	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:65751528G>A	ENST00000304842.5	+	3	1301	c.876G>A	c.(874-876)aaG>aaA	p.K292K	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	292					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTAATCAAGCCAGTCAATG	0.353																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(874-876)aaG>aaA		tyrosylprotein sulfotransferase 1							128.0	118.0	121.0					7																	65751528		2203	4300	6503	SO:0001819	synonymous_variant	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65751528G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.876G>A	7.37:g.65751528G>A						TPST1_ENST00000480281.1_3'UTR	p.K292K	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			3	1301	+			292					A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	37	c.876G>A	CCDS5533.1																																																																																				0.353	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		20	41	0	0	0	1	0	20	41				
IBA57	200205	broad.mit.edu	37	1	228353539	228353539	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:228353539delC	ENST00000366711.3	+	1	24	c.22delC	c.(22-24)cgafs	p.R8fs	IBA57-AS1_ENST00000366713.1_5'Flank|IBA57-AS1_ENST00000496552.1_5'Flank	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	8					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCGCTGCTTCGAGGCGCCAC	0.771																																						ENST00000366711.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(22-24)gafs		IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)							2.0	2.0	2.0					1																	228353539		1273	2633	3906	SO:0001589	frameshift_variant	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228353539delC	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.22delC	1.37:g.228353539delC	ENSP00000355672:p.Arg8fs						p.R8fs	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN			1	24	+			8						Frame_Shift_Del	DEL	ENST00000366711.3	37	c.22delC	CCDS31046.1																																																																																				0.771	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		2	4						2	4	---	---	---	---
Unknown	0	broad.mit.edu	37	2	162357792	162357793	+	IGR	INS	-	-	T	rs552942298|rs149895753	byFrequency	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:162357792_162357793insT								AC009487.5 (72507 upstream) : snoU13 (57260 downstream)																							AGGAACCTCTATTTTTTTAGCT	0.411														5	0.000998403	0.0	0.0	5008	,	,		19066	0.004		0.001	False		,,,				2504	0.0					ENST00000605990.1																			0																																																	SO:0001628	intergenic_variant	57282							g.chr2:162357792_162357793insT																													2.37:g.162357799_162357799dupT														0	344	+									RNA	INS		37																																																																																					0	0.411									9	46						9	46	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100513802	100513802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:100513802delG	ENST00000284322.5	-	22	1962	c.1853delC	c.(1852-1854)ccafs	p.P618fs	ABI3BP_ENST00000471714.1_Frame_Shift_Del_p.P1295fs|ABI3BP_ENST00000383691.4_Frame_Shift_Del_p.P572fs	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	618	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTAGGACTTGGGGAAATCAT	0.403																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3883-3885)cafs		ABI family, member 3 (NESH) binding protein							65.0	59.0	61.0					3																	100513802		1817	4073	5890	SO:0001589	frameshift_variant	25890					extracellular space		g.chr3:100513802delG	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1853delC	3.37:g.100513802delG	ENSP00000284322:p.Pro618fs					ABI3BP_ENST00000284322.5_Frame_Shift_Del_p.P618fs|ABI3BP_ENST00000383691.4_Frame_Shift_Del_p.P572fs	p.P1295fs			Q7Z7G0	TARSH_HUMAN			53	3993	-			618					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Frame_Shift_Del	DEL	ENST00000284322.5	37	c.3884delC	CCDS46880.1																																																																																				0.403	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			2	4						2	4	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	4						3	4	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638683	176638693	+	Frame_Shift_Del	DEL	GGCCACTTAAC	GGCCACTTAAC	-	rs202208033|rs200431038	byFrequency	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176638683_176638693delGGCCACTTAAC	ENST00000439151.2	+	5	3328_3338	c.3283_3293delGGCCACTTAAC	c.(3283-3294)ggccacttaacafs	p.GHLT1095fs	NSD1_ENST00000347982.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.GHLT992fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1095					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGATAATGGGCCACTTAACAAGTGAAGAT	0.436			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CD075489|CM074969	NSD1	D|M		c.(3283-3294)afs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638683_176638693delGGCCACTTAAC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3283_3293delGGCCACTTAAC	5.37:g.176638683_176638693delGGCCACTTAAC	ENSP00000395929:p.Gly1095fs	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.GHLT992fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.GHLT826fs	p.GHLT1095fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3328_3338	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1095					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.3283_3293delGGCCACTTAAC	CCDS4412.1																																																																																				0.436	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		22	78						22	78	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176662896	176662897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176662896_176662897insT	ENST00000439151.2	+	6	3916_3917	c.3871_3872insT	c.(3871-3873)atafs	p.I1291fs	NSD1_ENST00000347982.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.I1188fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1291					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGATCAGATATTTGCTCCT	0.386			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3871-3873)attfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176662896_176662897insT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3872dupT	5.37:g.176662897_176662897dupT	ENSP00000395929:p.Ile1291fs	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.I1188fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.I1022fs	p.I1291fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	6	3916_3917	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1291					Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.3871_3872insT	CCDS4412.1																																																																																				0.386	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		9	34						9	34	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748390	143748403	+	Frame_Shift_Del	DEL	GTGCCCTGAAAAGA	GTGCCCTGAAAAGA	-	rs375263872	byFrequency	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:143748390_143748403delGTGCCCTGAAAAGA	ENST00000408906.2	+	1	930_943	c.896_909delGTGCCCTGAAAAGA	c.(895-909)ggtgccctgaaaagafs	p.GALKR299fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GAGGTCAAGGGTGCCCTGAAAAGAGTGTTGTGGA	0.491																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(895-909)gfs		olfactory receptor, family 2, subfamily A, member 5																																				SO:0001589	frameshift_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748390_143748403delGTGCCCTGAAAAGA	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.896_909delGTGCCCTGAAAAGA	7.37:g.143748390_143748403delGTGCCCTGAAAAGA	ENSP00000386208:p.Gly299fs						p.GALKR299fs	NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN			1	930_943	+	Melanoma(164;0.0783)		299					B9EGX2|O43885|O43888	Frame_Shift_Del	DEL	ENST00000408906.2	37	c.896_909delGTGCCCTGAAAAGA	CCDS43668.1																																																																																				0.491	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			12	92						12	92	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152695	149152696	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:149152695_149152696insG	ENST00000247930.4	-	2	741_742	c.418_419insC	c.(418-420)ctgfs	p.L140fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAAAGGGTCAGGGGGTCTTTC	0.599																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(418-420)gacfs		zinc finger protein 777																																				SO:0001589	frameshift_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152695_149152696insG	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.419dupC	7.37:g.149152700_149152700dupG	ENSP00000247930:p.Leu140fs						p.D140fs	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	741_742	-	Melanoma(164;0.165)		140					Q8N2R2|Q8N659	Frame_Shift_Ins	INS	ENST00000247930.4	37	c.418_419insC	CCDS43675.1																																																																																				0.599	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		7	355						7	355	---	---	---	---
RNLS	55328	broad.mit.edu	37	10	90122434	90122436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:90122434_90122436delGAG	ENST00000331772.4	-	5	595_597	c.573_575delCTC	c.(571-576)tcctct>tct	p.191_192SS>S	RNLS_ENST00000437752.1_In_Frame_Del_p.108_109SS>S|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000371947.3_In_Frame_Del_p.191_192SS>S	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	191					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCATATCGAGAGGAGTAGCTCA	0.443																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(571-576)tct>tc		renalase, FAD-dependent amine oxidase																																				SO:0001651	inframe_deletion	55328					extracellular region	oxidoreductase activity	g.chr10:90122434_90122436delGAG	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.573_575delCTC	10.37:g.90122437_90122439delGAG	ENSP00000332530:p.Ser192del					RNLS_ENST00000331772.4_In_Frame_Del_p.SS191del|RNLS_ENST00000437752.1_In_Frame_Del_p.SS108del|RNLS_ENST00000466945.1_5'UTR	p.SS191del	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	1912_1914	-			191					Q9BS33|Q9NUP8	In_Frame_Del	DEL	ENST00000331772.4	37	c.573_575delCTC	CCDS31239.1																																																																																				0.443	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		15	64						15	64	---	---	---	---
BHLHE41	79365	broad.mit.edu	37	12	26275624	26275624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:26275624delG	ENST00000242728.4	-	5	1171	c.824delC	c.(823-825)ccgfs	p.P275fs	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	275					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CTTGGGCGCCGGCGAGTCCTC	0.786																																						ENST00000242728.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						c.(823-825)cgfs		basic helix-loop-helix family, member e41							10.0	12.0	11.0					12																	26275624		1688	3639	5327	SO:0001589	frameshift_variant	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26275624delG	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.824delC	12.37:g.26275624delG	ENSP00000242728:p.Pro275fs						p.P275fs	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN			5	1171	-			275					A2I2N8	Frame_Shift_Del	DEL	ENST00000242728.4	37	c.824delC	CCDS8706.1																																																																																				0.786	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		15	30						15	30	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115118704	115118706	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:115118704_115118706delTGT	ENST00000257566.3	-	2	1024_1026	c.635_637delACA	c.(634-639)aacatt>att	p.N212del	TBX3_ENST00000349155.2_In_Frame_Del_p.N212del	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	212					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N212delN(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTCTGAAATGTTGTTGGTGAG	0.438																																						ENST00000349155.2																			1	Deletion - In frame(1)	p.N212delN(1)	breast(1)	breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(634-639)att>a		T-box 3																																				SO:0001651	inframe_deletion	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118704_115118706delTGT	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.635_637delACA	12.37:g.115118707_115118709delTGT	ENSP00000257566:p.Asn212del					TBX3_ENST00000257566.3_In_Frame_Del_p.NI212del	p.NI212del	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1598_1600	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		212					Q8TB20|Q9UKF8	In_Frame_Del	DEL	ENST00000257566.3	37	c.635_637delACA	CCDS9176.1																																																																																				0.438	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		30	103						30	103	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75231000	75231000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:75231000delA	ENST00000552421.1	+	1	932	c.808delA	c.(808-810)aaafs	p.K270fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.K270fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.K270fs			P49750	YLPM1_HUMAN	YLP motif containing 1	270					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGTGGGGCCAAAAACAAGAG	0.542																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(808-810)aafs		YLP motif containing 1							55.0	60.0	58.0					14																	75231000		1965	4170	6135	SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75231000delA	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.808delA	14.37:g.75231000delA	ENSP00000447921:p.Lys270fs					YLPM1_ENST00000552421.1_Frame_Shift_Del_p.K270fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.K270fs	p.K270fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	932	+			104					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37	c.808delA																																																																																					0.542	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		17	30						17	30	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18624129	18624135	+	Frame_Shift_Del	DEL	GTTATCA	GTTATCA	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:18624129_18624135delGTTATCA	ENST00000399799.2	-	6	1543_1549	c.603_609delTGATAAC	c.(601-609)cctgataacfs	p.PDN201fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAGCAGCATGTTATCAGGCTTCACAT	0.319																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(601-609)ccfs		Rho-associated, coiled-coil containing protein kinase 1																																				SO:0001589	frameshift_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18624129_18624135delGTTATCA		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.603_609delTGATAAC	18.37:g.18624129_18624135delGTTATCA	ENSP00000382697:p.Pro201fs						p.PDN201fs	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			6	1543_1549	-	Melanoma(1;0.165)		201			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Del	DEL	ENST00000399799.2	37	c.603_609delTGATAAC	CCDS11870.2																																																																																				0.319	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		19	63						19	63	---	---	---	---
IGLON5	402665	broad.mit.edu	37	19	51825371	51825371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:51825371delT	ENST00000270642.8	+	2	133	c.133delT	c.(133-135)tgtfs	p.C45fs		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	45	Ig-like C2-type 1.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						CTACACAGTGTGTGAAGGTGA	0.632																																						ENST00000270642.8																			0				large_intestine(5)|lung(6)|prostate(1)	12						c.(133-135)gtfs		IgLON family member 5							92.0	93.0	93.0					19																	51825371		2111	4229	6340	SO:0001589	frameshift_variant	402665					extracellular region		g.chr19:51825371delT		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.133delT	19.37:g.51825371delT	ENSP00000270642:p.Cys45fs						p.C45fs	NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN			2	133	+			45			Ig-like C2-type 1.			Frame_Shift_Del	DEL	ENST00000270642.8	37	c.133delT	CCDS46158.1																																																																																				0.632	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		35	124						35	124	---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36041690	36041690	+	Start_Codon_Del	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr21:36041690delG	ENST00000360731.3	+	0	3				CLIC6_ENST00000349499.2_Start_Codon_Del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6							chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CTGCGGCCATGGCCGAGGCCG	0.731																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19								chloride intracellular channel 6							2.0	3.0	2.0					21																	36041690		1571	3433	5004	SO:0001582	initiator_codon_variant	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36041690delG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237		21.37:g.36041690delG						CLIC6_ENST00000349499.2_Start_Codon_Del				Q96NY7	CLIC6_HUMAN			0	3	+								A8K0U8|Q8IX31	Translation_Start_Site	DEL	ENST00000360731.3	37																																																																																						0.731	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			2	4						2	4	---	---	---	---
