#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
PRAMEF1	65121	broad.mit.edu	37	1	12854241	12854241	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:12854241C>T	ENST00000332296.7	+	3	568	c.465C>T	c.(463-465)ctC>ctT	p.L155L	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	155					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATCTGCCTCAAGGAAATAC	0.498																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(463-465)ctC>ctT		PRAME family member 1							58.0	65.0	62.0					1																	12854241		2195	4271	6466	SO:0001819	synonymous_variant	65121							g.chr1:12854241C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.465C>T	1.37:g.12854241C>T							p.L155L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	568	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	155					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.465C>T	CCDS148.1																																																																																				0.498	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		9	395	0	0	0	1	0	9	395				
IL11RA	3590	broad.mit.edu	37	9	34660381	34660381	+	Missense_Mutation	SNP	C	C	T	rs148186329	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34660381C>T	ENST00000555003.1	+	10	2419	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	IL11RA_ENST00000318041.9_Missense_Mutation_p.R355W|RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000378817.4_Missense_Mutation_p.R355W|IL11RA_ENST00000602473.1_Missense_Mutation_p.R355W|IL11RA_ENST00000441545.2_Missense_Mutation_p.R355W|CCL27_ENST00000557161.1_5'Flank			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	355					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCACACCCTCGGCTACTTGG	0.587													C|||	4	0.000798722	0.003	0.0	5008	,	,		21631	0.0		0.0	False		,,,				2504	0.0					ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(1063-1065)Cgg>Tgg		interleukin 11 receptor, alpha	Oprelvekin(DB00038)	C	TRP/ARG,TRP/ARG,TRP/ARG	7,4399	12.9+/-30.5	0,7,2196	52.0	52.0	52.0		1063,1063,1063	3.0	0.2	9	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense,missense	IL11RA	NM_001142784.1,NM_004512.3,NM_147162.1	101,101,101	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging,probably-damaging,probably-damaging	355/423,355/423,355/391	34660381	7,12999	2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34660381C>T	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1063C>T	9.37:g.34660381C>T	ENSP00000450565:p.Arg355Trp					IL11RA_ENST00000378817.4_Missense_Mutation_p.R355W|IL11RA_ENST00000318041.9_Missense_Mutation_p.R355W|IL11RA_ENST00000602473.1_Missense_Mutation_p.R355W|IL11RA_ENST00000441545.2_Missense_Mutation_p.R355W	p.R355W			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	10	2419	+	all_epithelial(49;0.102)		355					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.1063C>T	CCDS6567.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.10	1.538048	0.27475	0.001589	0.0	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.35605	1.45;1.45;1.3;1.45	4.94	3.02	0.34903	.	1.068790	0.07189	N	0.855405	T	0.36524	0.0970	L	0.36672	1.1	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.46825	0.528;0.528	T	0.26189	-1.0110	10	0.72032	D	0.01	-12.4434	9.9737	0.41770	0.3833:0.6167:0.0:0.0	.	355;355	Q5VZ79;Q14626	.;I11RA_HUMAN	W	355	ENSP00000450565:R355W;ENSP00000394391:R355W;ENSP00000368094:R355W;ENSP00000326500:R355W	ENSP00000326500:R355W	R	+	1	2	IL11RA	34650381	0.001000	0.12720	0.181000	0.23098	0.029000	0.11900	0.357000	0.20199	0.611000	0.30052	-0.227000	0.12334	CGG		0.587	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		15	22	0	0	0	1	0	15	22				
NIP7	51388	broad.mit.edu	37	16	69374142	69374142	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:69374142G>A	ENST00000254940.5	+	3	589	c.189G>A	c.(187-189)ctG>ctA	p.L63L	NIP7_ENST00000254941.6_Silent_p.L63L|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Silent_p.L63L|COG8_ENST00000562081.1_5'Flank|COG8_ENST00000306875.4_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	63	N-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGACAAGCTGGTGTCGCTGG	0.517																																						ENST00000254940.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(187-189)ctG>ctA		NIP7, nucleolar pre-rRNA processing protein							70.0	72.0	71.0					16																	69374142		2198	4300	6498	SO:0001819	synonymous_variant	51388				ribosome assembly	nucleolus	protein binding|RNA binding	g.chr16:69374142G>A	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.189G>A	16.37:g.69374142G>A						NIP7_ENST00000569637.2_Silent_p.L63L|NIP7_ENST00000254941.6_Silent_p.L63L|RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	p.L63L	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN			3	589	+		Ovarian(137;0.101)	63					B2RD04|Q9NZZ0	Silent	SNP	ENST00000254940.5	37	c.189G>A	CCDS10877.1																																																																																				0.517	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101		21	83	0	0	0	1	0	21	83				
AHNAK	79026	broad.mit.edu	37	11	62297854	62297854	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:62297854C>G	ENST00000378024.4	-	5	4309	c.4035G>C	c.(4033-4035)ttG>ttC	p.L1345F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1345					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACCTCAGGCAAGGACACAT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4033-4035)ttG>ttC		AHNAK nucleoprotein							230.0	222.0	225.0					11																	62297854		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297854C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4035G>C	11.37:g.62297854C>G	ENSP00000367263:p.Leu1345Phe					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L1345F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4309	-		Melanoma(852;0.155)	1345					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4035G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551753	0.27739	.	.	ENSG00000124942	ENST00000378024	T	0.03035	4.07	4.63	-1.05	0.10036	.	1.412690	0.06028	U	0.652507	T	0.07503	0.0189	M	0.88640	2.97	0.09310	N	0.999997	B	0.13145	0.007	B	0.13407	0.009	T	0.45556	-0.9253	10	0.56958	D	0.05	.	1.3017	0.02080	0.3587:0.2535:0.2349:0.153	.	1345	Q09666	AHNK_HUMAN	F	1345	ENSP00000367263:L1345F	ENSP00000367263:L1345F	L	-	3	2	AHNAK	62054430	0.836000	0.29430	0.011000	0.14972	0.007000	0.05969	0.746000	0.26275	-0.406000	0.07588	-0.208000	0.12717	TTG		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		29	307	0	0	0	1	0	29	307				
FEZ1	9638	broad.mit.edu	37	11	125359605	125359605	+	Silent	SNP	C	C	T	rs575776265		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:125359605C>T	ENST00000278919.3	-	2	303	c.69G>A	c.(67-69)ccG>ccA	p.P23P	FEZ1_ENST00000366139.3_Silent_p.P23P|FEZ1_ENST00000524435.1_Silent_p.P23P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	23					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTTCTCCTCCGGGTCCTCCG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17169	0.0		0.0	False		,,,				2504	0.0				Melanoma(180;509 2033 10762 15939 24711)	ENST00000278919.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(67-69)ccG>ccA		fasciculation and elongation protein zeta 1 (zygin I)							68.0	74.0	72.0					11																	125359605		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359605C>T	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.69G>A	11.37:g.125359605C>T						FEZ1_ENST00000524435.1_Silent_p.P23P|FEZ1_ENST00000366139.3_Silent_p.P23P	p.P23P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	303	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	23					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.69G>A	CCDS31716.1																																																																																				0.537	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		25	85	0	0	0	1	0	25	85				
RAB15	376267	broad.mit.edu	37	14	65415117	65415117	+	Silent	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65415117G>T	ENST00000533601.2	-	7	931	c.594C>A	c.(592-594)ggC>ggA	p.G198G	FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000267512.5_3'UTR|RAB15_ENST00000436278.2_3'UTR|RAB15_ENST00000426039.3_Silent_p.G152G|FNTB_ENST00000542227.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	198					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCGGGTTTGCCCTCCTCCT	0.642																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(592-594)ggC>ggA		RAB15, member RAS oncogene family																																				SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65415117G>T	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.594C>A	14.37:g.65415117G>T						CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_3'UTR|RAB15_ENST00000426039.3_Silent_p.G152G|RAB15_ENST00000436278.2_3'UTR	p.G198G			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	7	931	-			198					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.594C>A																																																																																					0.642	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		8	26	1	0	5.18039e-06	1	5.36323e-06	8	26				
TSC2	7249	broad.mit.edu	37	16	2135263	2135263	+	Silent	SNP	C	C	T	rs368534883|rs137854401		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:2135263C>T	ENST00000219476.3	+	36	5232	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	TSC2_ENST00000350773.4_Silent_p.L1511L|TSC2_ENST00000353929.4_Silent_p.L1491L|TSC2_ENST00000401874.2_Silent_p.L1467L|TSC2_ENST00000568454.1_Silent_p.L1478L|TSC2_ENST00000382538.6_Silent_p.L1419L|TSC2_ENST00000439673.2_Silent_p.L1431L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1534	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCAGCTCCTCGACCAGATCC	0.667			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4600-4602)ctC>ctT		tuberous sclerosis 2		C	,,	1,4393	2.1+/-5.4	0,1,2196	102.0	76.0	85.0		4602,4401,4533	-8.9	0.9	16		85	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	0,2,6492	TT,TC,CC		0.0116,0.0228,0.0154	,,	1534/1808,1467/1741,1511/1785	2135263	2,12986	2197	4297	6494	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2135263C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4602C>T	16.37:g.2135263C>T						TSC2_ENST00000568454.1_Silent_p.L1478L|TSC2_ENST00000350773.4_Silent_p.L1511L|TSC2_ENST00000353929.4_Silent_p.L1491L|TSC2_ENST00000382538.6_Silent_p.L1419L|TSC2_ENST00000401874.2_Silent_p.L1467L|TSC2_ENST00000439673.2_Silent_p.L1431L	p.L1534L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			36	5232	+		Hepatocellular(780;0.0202)	1534			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.4602C>T	CCDS10458.1																																																																																				0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		10	46	0	0	0	1	0	10	46				
DYSF	8291	broad.mit.edu	37	2	71891553	71891553	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:71891553C>T	ENST00000258104.3	+	45	5319	c.5042C>T	c.(5041-5043)cCa>cTa	p.P1681L	DYSF_ENST00000429174.2_Missense_Mutation_p.P1702L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1699L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1689L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1698L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.P1713L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1720L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1719L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1703L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1682L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1712L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1681					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGTGGACTCCCACAGACCTAC	0.557																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5041-5043)cCa>cTa		dysferlin							80.0	69.0	72.0					2																	71891553		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891553C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5042C>T	2.37:g.71891553C>T	ENSP00000258104:p.Pro1681Leu					DYSF_ENST00000410020.3_Missense_Mutation_p.P1720L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1698L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.P1719L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1713L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1682L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1689L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1702L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1703L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1699L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1712L	p.P1681L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			45	5319	+			1681					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5042C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833573	0.91036	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84442	-1.84;-1.84;-1.83;-1.83;-1.84;-1.85;-1.85;-1.84;-1.84;-1.84;-1.85	5.13	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93605	0.7958	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.998;1.0;0.998;1.0;0.997;0.989;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.984;1.0;1.0;1.0;1.0;0.995;0.991;0.995;0.991;1.0;0.972;0.92;1.0;1.0;0.999	D	0.94812	0.7979	10	0.87932	D	0	-8.6067	16.0725	0.80946	0.0:1.0:0.0:0.0	.	445;1713;1720;1703;1668;1699;1689;1698;1688;1712;1719;1702;1667;1682;1681	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	L	1712;1698;1719;1702;1681;1713;1682;1689;1703;1720;1699	ENSP00000407046:P1712L;ENSP00000387137:P1698L;ENSP00000386547:P1719L;ENSP00000398305:P1702L;ENSP00000258104:P1681L;ENSP00000386683:P1713L;ENSP00000377678:P1682L;ENSP00000386285:P1689L;ENSP00000386512:P1703L;ENSP00000386881:P1720L;ENSP00000386617:P1699L	ENSP00000258104:P1681L	P	+	2	0	DYSF	71745061	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.808000	0.86044	2.393000	0.81446	0.561000	0.74099	CCA		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		8	48	0	0	0	1	0	8	48				
NLRP12	91662	broad.mit.edu	37	19	54314151	54314151	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54314151C>T	ENST00000324134.6	-	3	930	c.762G>A	c.(760-762)gaG>gaA	p.E254E	NLRP12_ENST00000391775.3_Silent_p.E254E|NLRP12_ENST00000535162.1_Silent_p.E254E|NLRP12_ENST00000345770.5_Silent_p.E254E|NLRP12_ENST00000351894.4_Silent_p.E254E|NLRP12_ENST00000391773.1_Silent_p.E254E|NLRP12_ENST00000354278.3_Silent_p.E254E|NLRP12_ENST00000391772.1_Silent_p.E254E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	254	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTGGTTCATCTCCCTGCAGT	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(760-762)gaG>gaA		NLR family, pyrin domain containing 12							62.0	48.0	53.0					19																	54314151		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314151C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.762G>A	19.37:g.54314151C>T						NLRP12_ENST00000351894.4_Silent_p.E254E|NLRP12_ENST00000535162.1_Silent_p.E254E|NLRP12_ENST00000391772.1_Silent_p.E254E|NLRP12_ENST00000391775.3_Silent_p.E254E|NLRP12_ENST00000391773.1_Silent_p.E254E|NLRP12_ENST00000354278.3_Silent_p.E254E|NLRP12_ENST00000345770.5_Silent_p.E254E	p.E254E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	930	-	Ovarian(34;0.19)		254			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.762G>A	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		6	41	0	0	0	1	0	6	41				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						ENST00000348035.4																			2	Substitution - Missense(2)	p.A159V(1)|p.A178V(1)	endometrium(2)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(475-477)gCg>gTg		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	p.A159V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	689	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		23	82	0	0	0	1	0	23	82				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	44	0	0	0	1	0	4	44				
TRERF1	55809	broad.mit.edu	37	6	42196408	42196408	+	Splice_Site	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:42196408C>G	ENST00000372922.4	-	18	3841		c.e18-1		TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site|TRERF1_ENST00000541110.1_Splice_Site	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGAAGACTCTAAAAATAAA	0.458																																						ENST00000541110.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.e18-1		transcriptional regulating factor 1							145.0	168.0	160.0					6																	42196408		2203	4300	6503	SO:0001630	splice_region_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196408C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3279-1G>C	6.37:g.42196408C>G						TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site				Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3907	-	Colorectal(47;0.196)							Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Splice_Site	SNP	ENST00000372922.4	37		CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442679	0.63067	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRERF1	42304386	1.000000	0.71417	0.963000	0.40424	0.685000	0.39939	5.989000	0.70587	2.797000	0.96272	0.563000	0.77884	.		0.458	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	Intron	83	225	0	0	0	1	0	83	225				
LRTOMT	220074	broad.mit.edu	37	11	71804685	71804685	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:71804685G>A	ENST00000289488.2	+	4	604	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E58K|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000440313.2_5'Flank|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000324866.7_Missense_Mutation_p.E76K|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000435085.1_5'UTR	NM_001271471.2|NM_145309.5	NP_001258400.1|NP_660352.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	76						cytoplasm (GO:0005737)				large_intestine(2)|lung(1)|ovary(1)	4						ACAGCTGTTGGAGCACCCAGA	0.512																																						ENST00000324866.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(226-228)Gag>Aag		leucine rich transmembrane and O-methyltransferase domain containing							161.0	133.0	143.0					11																	71804685		2200	4293	6493	SO:0001583	missense	220074					cytoplasm		g.chr11:71804685G>A		CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1	11q13.4	2014-09-05	2013-08-19	2008-11-27	ENSG00000184154	ENSG00000184154			25033	protein-coding gene	gene with protein product		612414	"""leucine rich repeat containing 51"", ""deafness, autosomal recessive 63"""	LRRC51, DFNB63		18794526, 18953341	Standard	NM_145309		Approved	COMT2, CFAP111	uc010rqw.2	Q8WZ04	OTTHUMG00000154887	ENST00000289488.2:c.226G>A	11.37:g.71804685G>A	ENSP00000289488:p.Glu76Lys					LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000539271.1_5'UTR|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E76K|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E58K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E76K	p.E76K	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN			4	392	+			76					B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4	Missense_Mutation	SNP	ENST00000289488.2	37	c.226G>A	CCDS8208.1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560185	0.13498	.	.	ENSG00000184154	ENST00000538413;ENST00000289488;ENST00000447974;ENST00000423494;ENST00000538478;ENST00000324866;ENST00000439209;ENST00000542846;ENST00000541614;ENST00000536917	T;T;T;T;T	0.31769	2.0;2.0;2.0;1.48;1.97	5.6	2.59	0.31030	.	0.565798	0.19641	N	0.109442	T	0.23289	0.0563	L	0.41415	1.275	0.80722	D	1	B;P;B	0.35745	0.032;0.518;0.071	B;B;B	0.33690	0.097;0.168;0.059	T	0.02398	-1.1165	10	0.44086	T	0.13	-6.6084	9.7759	0.40618	0.0748:0.425:0.5002:0.0	.	58;76;76	Q96E66-6;Q96E66-2;Q96E66	.;.;LRC51_HUMAN	K	76;76;76;58;76;76;76;76;76;76	ENSP00000289488:E76K;ENSP00000441249:E58K;ENSP00000444583:E76K;ENSP00000395139:E76K;ENSP00000440248:E76K	ENSP00000289488:E76K	E	+	1	0	LRTOMT	71482333	1.000000	0.71417	0.908000	0.35775	0.140000	0.21249	2.996000	0.49449	0.271000	0.22005	0.511000	0.50034	GAG		0.512	LRTOMT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337504.1	NM_145309		18	82	0	0	0	1	0	18	82				
ARFGEF1	10565	broad.mit.edu	37	8	68139438	68139438	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:68139438G>C	ENST00000262215.3	-	27	4239	c.3850C>G	c.(3850-3852)Cta>Gta	p.L1284V	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.L122V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L738V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1284					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGCAGCTAGATGAAATACA	0.398																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3850-3852)Cta>Gta		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							117.0	111.0	113.0					8																	68139438		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139438G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3850C>G	8.37:g.68139438G>C	ENSP00000262215:p.Leu1284Val					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.L122V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L738V	p.L1284V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		27	4239	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1284					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3850C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701389	0.15172	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.64991	-0.11;-0.07;-0.13	5.56	4.69	0.59074	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.51312	0.1667	L	0.39692	1.235	0.46542	D	0.999092	P;P;P	0.45768	0.866;0.787;0.787	P;P;P	0.45712	0.489;0.491;0.491	T	0.49000	-0.8984	10	0.07990	T	0.79	.	8.7932	0.34863	0.2788:0.0:0.7212:0.0	.	1284;762;738	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	V	738;1284;122	ENSP00000428429:L738V;ENSP00000262215:L1284V;ENSP00000430891:L122V	ENSP00000262215:L1284V	L	-	1	2	ARFGEF1	68301992	1.000000	0.71417	0.992000	0.48379	0.923000	0.55619	3.896000	0.56266	1.333000	0.45449	0.585000	0.79938	CTA		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		17	85	0	0	0	1	0	17	85				
ALDH8A1	64577	broad.mit.edu	37	6	135271181	135271181	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:135271181G>A	ENST00000265605.2	-	1	79	c.11C>T	c.(10-12)aCa>aTa	p.T4I	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T4I|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T4I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	4					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AAGTGCGTTTGTTCCAGCCAT	0.453																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(10-12)aCa>aTa		aldehyde dehydrogenase 8 family, member A1							100.0	100.0	100.0					6																	135271181		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135271181G>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.11C>T	6.37:g.135271181G>A	ENSP00000265605:p.Thr4Ile					ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T4I|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T4I	p.T4I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	1	79	-	Colorectal(23;0.221)		4					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.11C>T	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894232	0.52121	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.75704	-0.96;-0.93;-0.92	6.14	-1.04	0.10068	.	1.067000	0.07103	N	0.840716	T	0.29126	0.0724	N	0.08118	0	0.09310	N	1	B;B;B	0.27853	0.121;0.191;0.121	B;B;B	0.28916	0.07;0.096;0.044	T	0.26360	-1.0105	10	0.51188	T	0.08	.	2.7292	0.05222	0.1324:0.1696:0.3973:0.3007	.	4;4;4	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	I	4	ENSP00000265605:T4I;ENSP00000356819:T4I;ENSP00000356821:T4I	ENSP00000265605:T4I	T	-	2	0	ALDH8A1	135312874	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	0.693000	0.25497	-0.079000	0.12707	0.650000	0.86243	ACA		0.453	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			30	107	0	0	0	1	0	30	107				
PARP4	143	broad.mit.edu	37	13	25009273	25009273	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:25009273G>A	ENST00000381989.3	-	31	4111	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1336					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGGAAGCAGGACTGTGAGCG	0.502																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4006-4008)Cct>Tct		poly (ADP-ribose) polymerase family, member 4							87.0	93.0	91.0					13																	25009273		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25009273G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4006C>T	13.37:g.25009273G>A	ENSP00000371419:p.Pro1336Ser						p.P1336S	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4111	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1336					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.4006C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	g	0.162	-1.080107	0.01888	.	.	ENSG00000102699	ENST00000381989	T	0.01685	4.69	2.35	-4.71	0.03279	.	18.790800	0.02204	N	0.062561	T	0.01254	0.0041	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47195	-0.9136	10	0.17369	T	0.5	.	1.9626	0.03389	0.4027:0.3335:0.1446:0.1192	.	1336	Q9UKK3	PARP4_HUMAN	S	1336	ENSP00000371419:P1336S	ENSP00000371419:P1336S	P	-	1	0	PARP4	23907273	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.076000	0.00300	-1.932000	0.01053	-0.676000	0.03789	CCT		0.502	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		11	75	0	0	0	1	0	11	75				
SCLT1	132320	broad.mit.edu	37	4	129920853	129920853	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:129920853G>A	ENST00000281142.5	-	7	1026	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SCLT1_ENST00000502495.1_5'Flank|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.H152Y|SCLT1_ENST00000434680.1_Missense_Mutation_p.H175Y	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	175					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAAATACATGAATCTGGGCC	0.378																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(523-525)Cat>Tat		sodium channel and clathrin linker 1							113.0	112.0	112.0					4																	129920853		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129920853G>A	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.523C>T	4.37:g.129920853G>A	ENSP00000281142:p.His175Tyr					SCLT1_ENST00000503215.1_Missense_Mutation_p.H152Y|SCLT1_ENST00000434680.1_Missense_Mutation_p.H175Y|SCLT1_ENST00000439369.2_Intron	p.H175Y	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			7	1026	-			175					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.523C>T	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	5.587	0.293076	0.10567	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.09538	2.97;2.97;2.97	5.63	2.46	0.29980	.	0.274277	0.40908	D	0.000995	T	0.08537	0.0212	L	0.39397	1.21	0.26027	N	0.981798	B;B	0.23990	0.095;0.01	B;B	0.24155	0.051;0.013	T	0.28964	-1.0027	9	.	.	.	-3.3787	8.3586	0.32346	0.1614:0.0:0.7067:0.1319	.	175;175	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	Y	175;175;152	ENSP00000281142:H175Y;ENSP00000401539:H175Y;ENSP00000424029:H152Y	.	H	-	1	0	SCLT1	130140303	1.000000	0.71417	0.157000	0.22605	0.134000	0.20937	3.839000	0.55835	0.695000	0.31675	0.557000	0.71058	CAT		0.378	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		13	80	0	0	0	1	0	13	80				
MON1B	22879	broad.mit.edu	37	16	77228397	77228397	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228397A>C	ENST00000248248.3	+	4	991	c.641A>C	c.(640-642)cAg>cCg	p.Q214P	MON1B_ENST00000545553.1_Missense_Mutation_p.Q68P|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCACACAAGCAGAACTATGAC	0.627																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(640-642)cAg>cCg		MON1 secretory trafficking family member B							87.0	81.0	83.0					16																	77228397		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228397A>C	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.641A>C	16.37:g.77228397A>C	ENSP00000248248:p.Gln214Pro					MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68P|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105P	p.Q214P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	991	+			214					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.641A>C	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188027	0.78789	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.49	4.49	0.54785	.	0.099373	0.64402	D	0.000003	T	0.32224	0.0822	N	0.03891	-0.335	0.80722	D	1	P;B;B;D	0.54207	0.901;0.195;0.097;0.965	P;B;B;P	0.55749	0.71;0.065;0.065;0.783	T	0.23404	-1.0189	9	0.02654	T	1	.	12.3748	0.55273	1.0:0.0:0.0:0.0	.	68;105;94;214	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	P	214;105;68	.	ENSP00000248248:Q214P	Q	+	2	0	MON1B	75785898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.578000	0.53892	1.966000	0.57179	0.459000	0.35465	CAG		0.627	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		24	80	0	0	0	1	0	24	80				
KIAA1549	57670	broad.mit.edu	37	7	138603353	138603353	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:138603353C>G	ENST00000422774.1	-	2	1067	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R290T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R340T			Q9HCM3	K1549_HUMAN	KIAA1549	340						integral component of membrane (GO:0016021)		p.R290I(1)|p.R340I(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGTATGTTCTTGGAGAGAT	0.507			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	2	Substitution - Missense(2)	p.R290I(1)|p.R340I(1)	large_intestine(2)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(1018-1020)aGa>aCa		KIAA1549							200.0	210.0	207.0					7																	138603353		2144	4253	6397	SO:0001583	missense	57670					integral to membrane		g.chr7:138603353C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1019G>C	7.37:g.138603353C>G	ENSP00000416040:p.Arg340Thr					KIAA1549_ENST00000422774.1_Missense_Mutation_p.R340T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R290T	p.R340T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	1067	-			340					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1019G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481195	0.26598	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26660	1.72;1.73;1.72	4.42	1.48	0.22813	.	1.027140	0.07759	N	0.949804	T	0.14141	0.0342	N	0.24115	0.695	0.09310	N	1	B;B	0.32829	0.267;0.386	B;B	0.31101	0.058;0.124	T	0.28808	-1.0032	10	0.12103	T	0.63	.	5.5938	0.17315	0.0:0.6283:0.186:0.1857	.	340;340	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	T	340;290;340	ENSP00000406661:R340T;ENSP00000242365:R290T;ENSP00000416040:R340T	ENSP00000242365:R290T	R	-	2	0	KIAA1549	138253893	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.312000	0.19397	0.455000	0.26910	0.555000	0.69702	AGA		0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			18	148	0	0	0	1	0	18	148				
KMT2D	8085	broad.mit.edu	37	12	49427258	49427258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49427258G>A	ENST00000301067.7	-	39	11229	c.11230C>T	c.(11230-11232)Cag>Tag	p.Q3744*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3744	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGtgctgctgctgctgttgc	0.572																																						ENST00000301067.7																			0											c.(11230-11232)Cag>Tag		lysine (K)-specific methyltransferase 2D							15.0	18.0	17.0					12																	49427258		2196	4292	6488	SO:0001587	stop_gained	8085							g.chr12:49427258G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11230C>T	12.37:g.49427258G>A	ENSP00000301067:p.Gln3744*						p.Q3744*	NM_003482.3	NP_003473.3					39	11229	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.11230C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	50	16.786419	0.99872	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.04	5.04	0.67666	.	0.000000	0.33253	N	0.005114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5332	0.87819	0.0:0.0:1.0:0.0	.	.	.	.	X	3744	.	ENSP00000301067:Q3744X	Q	-	1	0	MLL2	47713525	0.999000	0.42202	1.000000	0.80357	0.314000	0.28054	2.387000	0.44389	2.512000	0.84698	0.462000	0.41574	CAG		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	16	0	0	0	1	0	4	16				
CAMSAP2	23271	broad.mit.edu	37	1	200818898	200818898	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:200818898C>T	ENST00000236925.4	+	12	3083	c.3034C>T	c.(3034-3036)Ctt>Ttt	p.L1012F	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L985F|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L1001F			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1012					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TGTGGATAGCCTTCCTCGGTT	0.408																																						ENST00000358823.2																			0											c.(3001-3003)Ctt>Ttt		calmodulin regulated spectrin-associated protein family, member 2							111.0	116.0	114.0					1																	200818898		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200818898C>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3034C>T	1.37:g.200818898C>T	ENSP00000236925:p.Leu1012Phe					CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L985F|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1012F	p.L1001F	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	3271	+			1012					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3001C>T		.	.	.	.	.	.	.	.	.	.	C	18.91	3.724509	0.68959	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.30981	1.53;1.51;1.54	5.92	5.92	0.95590	.	0.107602	0.64402	D	0.000006	T	0.57257	0.2041	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.984;0.996;0.999	P;P;D	0.78314	0.861;0.901;0.991	T	0.54159	-0.8335	10	0.56958	D	0.05	-21.4052	20.3214	0.98679	0.0:1.0:0.0:0.0	.	985;1012;1001	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	F	1001;985;1012	ENSP00000351684:L1001F;ENSP00000416800:L985F;ENSP00000236925:L1012F	ENSP00000236925:L1012F	L	+	1	0	CAMSAP1L1	199085521	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	6.220000	0.72237	2.804000	0.96469	0.655000	0.94253	CTT		0.408	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		31	117	0	0	0	1	0	31	117				
EXOSC5	56915	broad.mit.edu	37	19	41898788	41898788	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:41898788C>T	ENST00000221233.4	-	2	396	c.246G>A	c.(244-246)ccG>ccA	p.P82P	EXOSC5_ENST00000596905.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	82					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCCCAATCTTCGGCCTCAGGA	0.592																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(244-246)ccG>ccA		exosome component 5							87.0	63.0	71.0					19																	41898788		2203	4300	6503	SO:0001819	synonymous_variant	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41898788C>T	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.246G>A	19.37:g.41898788C>T						CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Intron|BCKDHA_ENST00000595085.1_Intron	p.P82P	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			2	396	-			82					Q32Q81|Q8NG16|Q96I89	Silent	SNP	ENST00000221233.4	37	c.246G>A	CCDS12580.1																																																																																				0.592	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		12	41	0	0	0	1	0	12	41				
SCN1A	6323	broad.mit.edu	37	2	166897843	166897843	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:166897843G>C	ENST00000303395.4	-	13	2312	c.2313C>G	c.(2311-2313)gaC>gaG	p.D771E	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D760E|SCN1A_ENST00000409050.1_Missense_Mutation_p.D743E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.D771E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	771					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGGCCAGGTCAACAAATG	0.388																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(2311-2313)gaC>gaG		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						114.0	108.0	110.0					2																	166897843		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897843G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2313C>G	2.37:g.166897843G>C	ENSP00000303540:p.Asp771Glu					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D743E|SCN1A_ENST00000375405.3_Missense_Mutation_p.D760E|SCN1A_ENST00000303395.4_Missense_Mutation_p.D771E|AC010127.3_ENST00000595268.1_RNA	p.D771E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			13	2330	-			771					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2313C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201257	0.58234	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.54	3.69	0.42338	.	0.000000	0.64402	D	0.000001	D	0.97108	0.9055	L	0.56124	1.755	0.45995	D	0.998803	D;D;P	0.76494	0.999;0.999;0.584	D;D;B	0.80764	0.994;0.987;0.145	D	0.95335	0.8433	10	0.22109	T	0.4	.	10.619	0.45467	0.2074:0.0:0.7926:0.0	.	760;743;771	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	E	771;771;760;743	ENSP00000407030:D771E;ENSP00000303540:D771E;ENSP00000364554:D760E;ENSP00000386312:D743E	ENSP00000303540:D771E	D	-	3	2	SCN1A	166606089	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.517000	0.22832	1.438000	0.47492	0.591000	0.81541	GAC		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		21	119	0	0	0	1	0	21	119				
BAZ2A	11176	broad.mit.edu	37	12	56994065	56994065	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56994065G>A	ENST00000551812.1	-	24	5011	c.4818C>T	c.(4816-4818)ctC>ctT	p.L1606L	BAZ2A_ENST00000549884.1_Silent_p.L1604L|BAZ2A_ENST00000379441.3_Silent_p.L1576L|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Silent_p.L1574L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1606					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAGTTGGCCAGAGGGGCTCCC	0.592																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4720-4722)ctC>ctT		bromodomain adjacent to zinc finger domain, 2A							31.0	35.0	34.0					12																	56994065		1975	4135	6110	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56994065G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4818C>T	12.37:g.56994065G>A						BAZ2A_ENST00000379441.3_Silent_p.L1576L|BAZ2A_ENST00000551812.1_Silent_p.L1606L|BAZ2A_ENST00000549884.1_Silent_p.L1604L	p.L1574L			Q9UIF9	BAZ2A_HUMAN			25	4921	-			1606					B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.4722C>T	CCDS44924.1																																																																																				0.592	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		5	37	0	0	0	1	0	5	37				
MTHFSD	64779	broad.mit.edu	37	16	86575788	86575788	+	Silent	SNP	G	G	A	rs200844727		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:86575788G>A	ENST00000360900.6	-	6	499	c.474C>T	c.(472-474)gcC>gcT	p.A158A	MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Silent_p.A157A|MTHFSD_ENST00000381214.5_Silent_p.A158A|MTHFSD_ENST00000543303.2_Silent_p.A157A	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	158							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ATTCCAGATCGGCGTAGCCTT	0.567																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(469-471)gcC>gcT		methenyltetrahydrofolate synthetase domain containing		G	,,,,	0,3946		0,0,1973	70.0	69.0	69.0		474,474,471,414,471	-8.3	0.0	16		69	1,8325		0,1,4162	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	,,,,	0,1,6135	AA,AG,GG		0.012,0.0,0.0081	,,,,	158/384,158/384,157/383,138/364,157/383	86575788	1,12271	1973	4163	6136	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86575788G>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.474C>T	16.37:g.86575788G>A						MTHFSD_ENST00000360900.6_Silent_p.A158A|MTHFSD_ENST00000381214.5_Silent_p.A158A|MTHFSD_ENST00000543303.2_Silent_p.A157A|MTHFSD_ENST00000546093.1_5'UTR	p.A157A	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN			6	521	-			158					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.471C>T	CCDS54047.1																																																																																				0.567	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		13	31	0	0	0	1	0	13	31				
FAM129B	64855	broad.mit.edu	37	9	130270795	130270795	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:130270795G>A	ENST00000373312.3	-	11	1553	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	FAM129B_ENST00000373314.3_Missense_Mutation_p.T434M|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	447					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGTCTCGAACGTATACACGGC	0.637																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1339-1341)aCg>aTg		family with sequence similarity 129, member B							144.0	139.0	140.0					9																	130270795		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270795G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1340C>T	9.37:g.130270795G>A	ENSP00000362409:p.Thr447Met					FAM129B_ENST00000373314.3_Missense_Mutation_p.T434M|FAM129B_ENST00000468379.1_Intron	p.T447M	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			11	1553	-			447					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1340C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583892	0.86748	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.58940	0.32;0.3	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.75615	2.305	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79107	-0.1939	10	0.87932	D	0	-55.3969	16.5691	0.84606	0.0:0.0:1.0:0.0	.	97;434;447	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	M	434;97;447	ENSP00000362411:T434M;ENSP00000362409:T447M	ENSP00000362409:T447M	T	-	2	0	FAM129B	129310616	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.211000	0.77933	2.503000	0.84419	0.561000	0.74099	ACG		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		36	144	0	0	0	1	0	36	144				
TTBK2	146057	broad.mit.edu	37	15	43045107	43045107	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:43045107C>G	ENST00000267890.6	-	14	2445	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	779					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGATGCTTTTCTCTTCAGTTT	0.403																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(2335-2337)gaG>gaC		tau tubulin kinase 2							165.0	151.0	155.0					15																	43045107		1848	4096	5944	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43045107C>G	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2337G>C	15.37:g.43045107C>G	ENSP00000267890:p.Glu779Asp						p.E779D	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	14	2445	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	779					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.2337G>C	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629639	0.28978	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.41400	1.0	5.87	2.85	0.33270	.	0.292780	0.36665	N	0.002473	T	0.32346	0.0826	L	0.50333	1.59	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.15037	-1.0451	10	0.49607	T	0.09	.	5.1941	0.15227	0.0:0.5242:0.1415:0.3343	.	710;779	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	D	779;709;1184	ENSP00000267890:E779D	ENSP00000263802:E1184D	E	-	3	2	TTBK2	40832399	0.955000	0.32602	1.000000	0.80357	0.925000	0.55904	-0.101000	0.10973	0.759000	0.33084	-0.345000	0.07892	GAG		0.403	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		59	154	0	0	0	1	0	59	154				
TARDBP	23435	broad.mit.edu	37	1	11076957	11076957	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:11076957G>A	ENST00000240185.3	+	3	409	c.295G>A	c.(295-297)Gca>Aca	p.A99T	TARDBP_ENST00000315091.3_Missense_Mutation_p.A99T|TARDBP_ENST00000439080.2_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	99					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGTGAAAAGAGCAGTCCAGAA	0.368																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(295-297)Gca>Aca		TAR DNA binding protein							99.0	101.0	100.0					1																	11076957		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11076957G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.295G>A	1.37:g.11076957G>A	ENSP00000240185:p.Ala99Thr					TARDBP_ENST00000315091.3_Missense_Mutation_p.A99T|TARDBP_ENST00000439080.2_Intron	p.A99T	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	3	409	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	99					A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.295G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768029	0.49680	.	.	ENSG00000120948	ENST00000240185;ENST00000315091	D;D	0.85629	-2.01;-2.01	5.44	5.44	0.79542	.	0.047451	0.85682	D	0.000000	T	0.76535	0.4001	N	0.19112	0.55	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.70461	-0.4865	10	0.14252	T	0.57	-16.6818	19.2671	0.93993	0.0:0.0:1.0:0.0	.	99	Q13148	TADBP_HUMAN	T	99	ENSP00000240185:A99T;ENSP00000313129:A99T	ENSP00000240185:A99T	A	+	1	0	TARDBP	10999544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.542000	0.85734	0.467000	0.42956	GCA		0.368	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		23	71	0	0	0	1	0	23	71				
NETO1	81832	broad.mit.edu	37	18	70417625	70417625	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:70417625C>A	ENST00000327305.6	-	9	1870	c.1213G>T	c.(1213-1215)Gct>Tct	p.A405S	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.A405S|NETO1_ENST00000299430.2_Missense_Mutation_p.A404S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	405					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCAAAGTCAGCTGTAGCTCCT	0.443																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1213-1215)Gct>Tct		neuropilin (NRP) and tolloid (TLL)-like 1							83.0	76.0	78.0					18																	70417625		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417625C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1213G>T	18.37:g.70417625C>A	ENSP00000313088:p.Ala405Ser					NETO1_ENST00000299430.2_Missense_Mutation_p.A404S|NETO1_ENST00000583169.1_Missense_Mutation_p.A405S	p.A405S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1870	-		Esophageal squamous(42;0.129)	405					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1213G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635009	0.67130	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.43294	0.95;0.95	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000014	T	0.45498	0.1345	L	0.41710	1.295	0.80722	D	1	P;B	0.48162	0.906;0.275	P;B	0.46543	0.52;0.083	T	0.29579	-1.0007	10	0.46703	T	0.11	-2.0948	20.055	0.97649	0.0:1.0:0.0:0.0	.	404;405	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	S	405;404	ENSP00000313088:A405S;ENSP00000299430:A404S	ENSP00000299430:A404S	A	-	1	0	NETO1	68568605	1.000000	0.71417	0.170000	0.22879	0.956000	0.61745	7.484000	0.81180	2.743000	0.94032	0.455000	0.32223	GCT		0.443	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		10	29	1	0	3.86212e-05	1	3.92154e-05	10	29				
CD247	919	broad.mit.edu	37	1	167407814	167407814	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:167407814C>A	ENST00000362089.5	-	4	365	c.293G>T	c.(292-294)gGa>gTa	p.G98V	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.G98V			P20963	CD3Z_HUMAN	CD247 molecule	98					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	TACCGGCTTTCCCCCCATCTC	0.562																																					Ovarian(192;1815 2869 36877 43334)	ENST00000392122.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(292-294)gGa>gTa		CD247 molecule							145.0	134.0	138.0					1																	167407814		2203	4300	6503	SO:0001583	missense	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167407814C>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.293G>T	1.37:g.167407814C>A	ENSP00000354782:p.Gly98Val					CD247_ENST00000362089.5_Missense_Mutation_p.G98V|CD247_ENST00000483825.1_5'UTR	p.G98V	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		4	437	-			98					B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	c.293G>T	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321150	0.60634	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	4.52	4.52	0.55395	.	0.114632	0.34411	U	0.003991	T	0.72053	0.3413	M	0.72118	2.19	0.37464	D	0.915359	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.976;0.947	T	0.76152	-0.3064	8	0.62326	D	0.03	.	14.091	0.64990	0.0:1.0:0.0:0.0	.	98;98;98	Q6KAV0;P20963-3;P20963	.;.;CD3Z_HUMAN	V	98	.	ENSP00000354782:G98V	G	-	2	0	CD247	165674438	0.637000	0.27216	0.767000	0.31495	0.698000	0.40448	2.193000	0.42658	2.325000	0.78763	0.563000	0.77884	GGA		0.562	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		30	106	1	0	2.81731e-10	1	2.98703e-10	30	106				
RAB12	201475	broad.mit.edu	37	18	8638167	8638167	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:8638167G>A	ENST00000329286.6	+	6	925	c.642G>A	c.(640-642)agG>agA	p.R214R	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	214					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATATTTTAAGGAATGAGTTGT	0.408																																						ENST00000329286.6																			0				breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(640-642)agG>agA		RAB12, member RAS oncogene family							92.0	89.0	90.0					18																	8638167		1898	4115	6013	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8638167G>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.642G>A	18.37:g.8638167G>A							p.R214R	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			6	925	+			214					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.642G>A	CCDS42410.1																																																																																				0.408	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		9	80	0	0	0	1	0	9	80				
SLC22A20	440044	broad.mit.edu	37	11	65004163	65004163	+	RNA	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65004163G>A	ENST00000525437.1	+	0	1413							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CAGGCAGATGGGGATGGGCTT	0.657																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8															34.0	37.0	36.0					11																	65004163		1974	4129	6103			440044				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:65004163G>A	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65004163G>A										A6NK97	S22AK_HUMAN			0	1413	+								B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																						0.657	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		15	61	0	0	0	1	0	15	61				
FZR1	51343	broad.mit.edu	37	19	3534431	3534431	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3534431G>A	ENST00000395095.3	+	12	1360	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	FZR1_ENST00000313639.8_Missense_Mutation_p.D365N|FZR1_ENST00000441788.2_Missense_Mutation_p.D454N	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	454					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTCCCCTGATGGGGAGGC	0.587																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1360-1362)Gat>Aat		fizzy/cell division cycle 20 related 1 (Drosophila)							91.0	72.0	78.0					19																	3534431		2197	4297	6494	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3534431G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1360G>A	19.37:g.3534431G>A	ENSP00000378529:p.Asp454Asn					FZR1_ENST00000395095.3_Missense_Mutation_p.D454N|FZR1_ENST00000313639.8_Missense_Mutation_p.D365N	p.D454N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1596	+			454					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.1360G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	35	5.459410	0.96240	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.62498	1.24;1.24;0.02	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.967;0.996;1.0	T	0.76342	-0.2994	10	0.72032	D	0.01	-29.8112	17.1378	0.86744	0.0:0.0:1.0:0.0	.	454;365;454	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	N	454;454;365	ENSP00000410369:D454N;ENSP00000378529:D454N;ENSP00000321800:D365N	ENSP00000321800:D365N	D	+	1	0	FZR1	3485431	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.491000	0.97954	2.381000	0.81170	0.561000	0.74099	GAT		0.587	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		5	10	0	0	0	1	0	5	10				
INPP5E	56623	broad.mit.edu	37	9	139326414	139326414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:139326414C>A	ENST00000371712.3	-	7	1813	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CAGAACACCTCATCGAAGCGG	0.667																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1411-1413)Gag>Tag		inositol polyphosphate-5-phosphatase, 72 kDa							54.0	52.0	53.0					9																	139326414		2202	4300	6502	SO:0001587	stop_gained	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326414C>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1411G>T	9.37:g.139326414C>A	ENSP00000360777:p.Glu471*						p.E471*	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1813	-		Myeloproliferative disorder(178;0.0511)	471					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Nonsense_Mutation	SNP	ENST00000371712.3	37	c.1411G>T	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	c	40	8.424247	0.98806	.	.	ENSG00000148384	ENST00000371712	.	.	.	5.01	3.09	0.35607	.	0.326420	0.31872	N	0.006924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-24.2558	14.4454	0.67345	0.0:0.719:0.281:0.0	.	.	.	.	X	471	.	ENSP00000360777:E471X	E	-	1	0	INPP5E	138446235	1.000000	0.71417	0.831000	0.32960	0.845000	0.48019	3.024000	0.49674	0.574000	0.29417	-0.156000	0.13503	GAG		0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		7	66	1	0	2.17888e-05	1	2.23822e-05	7	66				
RNFT2	84900	broad.mit.edu	37	12	117191824	117191824	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:117191824G>A	ENST00000257575.4	+	5	819	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNFT2_ENST00000319176.7_Missense_Mutation_p.A196T|RNFT2_ENST00000392549.2_Missense_Mutation_p.A196T|RNFT2_ENST00000407967.3_Missense_Mutation_p.A196T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	196						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGCACCTTCGCCTATGCCAA	0.562																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(586-588)Gcc>Acc		ring finger protein, transmembrane 2							161.0	130.0	140.0					12																	117191824		2203	4300	6503	SO:0001583	missense	84900					integral to membrane	zinc ion binding	g.chr12:117191824G>A	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.586G>A	12.37:g.117191824G>A	ENSP00000257575:p.Ala196Thr					RNFT2_ENST00000319176.7_Missense_Mutation_p.A196T|RNFT2_ENST00000392549.2_Missense_Mutation_p.A196T|RNFT2_ENST00000407967.3_Missense_Mutation_p.A196T	p.A196T			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	5	819	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		196					E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	c.586G>A	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896069	0.52121	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549;ENST00000319176	T;T	0.46819	0.86;0.86	5.15	5.15	0.70609	.	0.053077	0.85682	D	0.000000	T	0.42063	0.1186	L	0.38838	1.175	0.80722	D	1	B;D	0.61697	0.373;0.99	B;B	0.43623	0.041;0.425	T	0.18999	-1.0319	10	0.22706	T	0.39	-35.7368	18.8087	0.92048	0.0:0.0:1.0:0.0	.	196;196	Q96EX2;E9PAM7	RNFT2_HUMAN;.	T	196	ENSP00000257575:A196T;ENSP00000376332:A196T	ENSP00000257575:A196T	A	+	1	0	RNFT2	115676207	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.084000	0.76866	2.667000	0.90743	0.563000	0.77884	GCC		0.562	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		27	79	0	0	0	1	0	27	79				
ATG16L1	55054	broad.mit.edu	37	2	234171780	234171780	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:234171780G>C	ENST00000392017.4	+	3	471	c.214G>C	c.(214-216)Gga>Cga	p.G72R	ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(214-216)Gga>Cga		autophagy related 16-like 1 (S. cerevisiae)							100.0	79.0	86.0					2																	234171780		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234171780G>C	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.214G>C	2.37:g.234171780G>C	ENSP00000375872:p.Gly72Arg					ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R	p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	3	471	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	72					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.214G>C	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900348	0.72754	.	.	ENSG00000085978	ENST00000392017;ENST00000417017;ENST00000392020;ENST00000392018	T;T;T	0.50813	0.75;0.74;0.73	5.17	5.17	0.71159	Autophagy-related protein 16 (1);	0.138379	0.48286	U	0.000191	T	0.66025	0.2748	L	0.60455	1.87	0.80722	D	1	D;D	0.65815	0.988;0.995	D;D	0.67548	0.92;0.952	T	0.68258	-0.5456	10	0.72032	D	0.01	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	72;72	Q676U5-2;Q676U5	.;A16L1_HUMAN	R	72	ENSP00000375872:G72R;ENSP00000375875:G72R;ENSP00000375873:G72R	ENSP00000375872:G72R	G	+	1	0	ATG16L1	233836519	1.000000	0.71417	0.994000	0.49952	0.550000	0.35303	5.471000	0.66762	2.571000	0.86741	0.650000	0.86243	GGA		0.438	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		9	50	0	0	0	1	0	9	50				
SPEN	23013	broad.mit.edu	37	1	16260211	16260211	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:16260211G>C	ENST00000375759.3	+	11	7680	c.7476G>C	c.(7474-7476)caG>caC	p.Q2492H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2492	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCACACCAGAGCCCCCCTA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7474-7476)caG>caC		spen family transcriptional repressor							80.0	76.0	77.0					1																	16260211		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260211G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7476G>C	1.37:g.16260211G>C	ENSP00000364912:p.Gln2492His						p.Q2492H	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7680	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2492			Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7476G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	3.273	-0.148629	0.06627	.	.	ENSG00000065526	ENST00000375759	T	0.08370	3.1	5.22	2.04	0.26737	.	.	.	.	.	T	0.11410	0.0278	N	0.24115	0.695	0.20821	N	0.999843	D	0.57571	0.98	D	0.69654	0.965	T	0.26677	-1.0096	9	0.37606	T	0.19	-7.7636	2.4903	0.04608	0.0934:0.2643:0.3709:0.2714	.	2492	Q96T58	MINT_HUMAN	H	2492	ENSP00000364912:Q2492H	ENSP00000364912:Q2492H	Q	+	3	2	SPEN	16132798	1.000000	0.71417	0.996000	0.52242	0.633000	0.38033	1.859000	0.39418	1.170000	0.42753	0.561000	0.74099	CAG		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		24	83	0	0	0	1	0	24	83				
CAPN6	827	broad.mit.edu	37	X	110495609	110495609	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:110495609C>T	ENST00000324068.1	-	5	792	c.625G>A	c.(625-627)Gag>Aag	p.E209K	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	209	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACTTCTCCTCAACAAGCTCA	0.433																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(625-627)Gag>Aag		calpain 6							170.0	121.0	138.0					X																	110495609		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110495609C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.625G>A	X.37:g.110495609C>T	ENSP00000317214:p.Glu209Lys					CAPN6_ENST00000541758.1_Intron	p.E209K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			5	792	-			209			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.625G>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527557	0.27299	.	.	ENSG00000077274	ENST00000324068	D	0.89746	-2.56	5.97	4.13	0.48395	Peptidase C2, calpain, catalytic domain (3);	0.391519	0.28790	N	0.014131	T	0.80014	0.4546	L	0.38175	1.15	0.09310	N	0.999992	B	0.33777	0.425	B	0.36289	0.221	T	0.66500	-0.5908	10	0.30854	T	0.27	.	1.4992	0.02473	0.1796:0.4706:0.1707:0.1792	.	209	Q9Y6Q1	CAN6_HUMAN	K	209	ENSP00000317214:E209K	ENSP00000317214:E209K	E	-	1	0	CAPN6	110382265	0.908000	0.30866	1.000000	0.80357	0.974000	0.67602	1.277000	0.33167	2.527000	0.85204	0.600000	0.82982	GAG		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			9	82	0	0	0	1	0	9	82				
PAPPA2	60676	broad.mit.edu	37	1	176525564	176525564	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:176525564G>C	ENST00000367662.3	+	2	1270	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E36Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	36					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCCTTGGTTGAGAGGGAACA	0.532																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(106-108)Gag>Cag		pappalysin 2							93.0	93.0	93.0					1																	176525564		2007	4195	6202	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525564G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.106G>C	1.37:g.176525564G>C	ENSP00000356634:p.Glu36Gln					PAPPA2_ENST00000367661.3_Missense_Mutation_p.E36Q	p.E36Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1270	+			36					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.106G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	3.070	-0.191250	0.06299	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.26957	4.93;1.7	4.82	3.9	0.45041	.	0.533269	0.14703	N	0.303456	T	0.05135	0.0137	N	0.00162	-1.95	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28235	-1.0050	10	0.02654	T	1	-0.8326	11.1424	0.48411	0.0:0.8089:0.1911:0.0	.	36;36	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	36	ENSP00000356634:E36Q;ENSP00000356633:E36Q	ENSP00000356633:E36Q	E	+	1	0	PAPPA2	174792187	0.933000	0.31639	0.135000	0.22099	0.913000	0.54294	1.587000	0.36622	1.027000	0.39758	-0.270000	0.10280	GAG		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	85	0	0	0	1	0	25	85				
KHSRP	8570	broad.mit.edu	37	19	6416883	6416883	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:6416883G>C	ENST00000398148.3	-	13	1285	c.1193C>G	c.(1192-1194)cCa>cGa	p.P398R	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	398	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGAGGACCTGGGGGACCACT	0.667																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1192-1194)cCa>cGa		KH-type splicing regulatory protein							18.0	22.0	21.0					19																	6416883		1926	4115	6041	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416883G>C	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1193C>G	19.37:g.6416883G>C	ENSP00000381216:p.Pro398Arg						p.P398R	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN			13	1285	-			398			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.1193C>G	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556826	0.27827	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.42131	0.98	5.53	5.53	0.82687	.	0.143082	0.46442	D	0.000284	T	0.36690	0.0976	L	0.43152	1.355	0.48341	D	0.999632	B	0.26744	0.158	B	0.20767	0.031	T	0.11567	-1.0582	10	0.19147	T	0.46	.	18.2323	0.89937	0.0:0.0:1.0:0.0	.	398	Q92945	FUBP2_HUMAN	R	398	ENSP00000381216:P398R	ENSP00000201886:P398R	P	-	2	0	KHSRP	6367883	1.000000	0.71417	0.981000	0.43875	0.572000	0.35998	7.033000	0.76504	2.587000	0.87381	0.655000	0.94253	CCA		0.667	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			10	33	0	0	0	1	0	10	33				
C1orf43	25912	broad.mit.edu	37	1	154180096	154180096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:154180096G>A	ENST00000368521.5	-	7	793	c.595C>T	c.(595-597)Cga>Tga	p.R199*	C1orf43_ENST00000350592.3_Nonsense_Mutation_p.R165*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.R147*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.R181*|C1orf43_ENST00000483282.1_5'UTR|C1orf189_ENST00000368525.3_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	199						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TGGTGATGTCGCTGAGAGCTC	0.512																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(595-597)Cga>Tga		chromosome 1 open reading frame 43							192.0	172.0	179.0					1																	154180096		2203	4300	6503	SO:0001587	stop_gained	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154180096G>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.595C>T	1.37:g.154180096G>A	ENSP00000357507:p.Arg199*					C1orf43_ENST00000350592.3_Nonsense_Mutation_p.R165*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.R181*|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.R147*	p.R199*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			7	793	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		199					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Nonsense_Mutation	SNP	ENST00000368521.5	37	c.595C>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699704	0.88830	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519	.	.	.	5.55	0.0129	0.14094	.	0.116339	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8827	11.3074	0.49342	0.0661:0.0:0.2588:0.6751	.	.	.	.	X	165;199;147;181	.	ENSP00000271925:R165X	R	-	1	2	C1orf43	152446720	1.000000	0.71417	0.940000	0.37924	0.898000	0.52572	0.872000	0.28037	-0.140000	0.11394	0.585000	0.79938	CGA		0.512	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		4	92	0	0	0	1	0	4	92				
FKTN	2218	broad.mit.edu	37	9	108377582	108377582	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:108377582G>A	ENST00000223528.2	+	7	928	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FKTN_ENST00000602661.1_Silent_p.V268V|FKTN_ENST00000357998.5_Silent_p.V268V|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000448551.2_Silent_p.V268V	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	268					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						ATAACACTGTGGAAGCTGTGG	0.398																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(802-804)gtG>gtA		fukutin							107.0	102.0	104.0					9																	108377582		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108377582G>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.804G>A	9.37:g.108377582G>A						FKTN_ENST00000357998.5_Silent_p.V268V|FKTN_ENST00000602661.1_Silent_p.V268V|FKTN_ENST00000448551.2_Silent_p.V268V|FKTN_ENST00000540160.1_Intron	p.V268V	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			7	928	+			268					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.804G>A	CCDS6766.1																																																																																				0.398	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		18	106	0	0	0	1	0	18	106				
DNAH2	146754	broad.mit.edu	37	17	7736222	7736222	+	Silent	SNP	C	C	T	rs561080302	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7736222C>T	ENST00000572933.1	+	84	14414	c.12954C>T	c.(12952-12954)gaC>gaT	p.D4318D	DNAH2_ENST00000389173.2_Silent_p.D4318D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4318					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTGGATGACAGCAACCTAG	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		19151	0.0		0.0	False		,,,				2504	0.0031					ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12952-12954)gaC>gaT		dynein, axonemal, heavy chain 2							219.0	229.0	226.0					17																	7736222		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736222C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12954C>T	17.37:g.7736222C>T						DNAH2_ENST00000389173.2_Silent_p.D4318D	p.D4318D			Q9P225	DYH2_HUMAN			84	14414	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4318					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12954C>T	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		53	181	0	0	0	1	0	53	181				
TRAV8-4	28682	broad.mit.edu	37	14	22363179	22363179	+	RNA	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:22363179G>A	ENST00000390438.2	+	0	438									T cell receptor alpha variable 8-4																		CCATATGAGCGACGCGGCTGA	0.502																																						ENST00000390438.2																			0																				77.0	72.0	74.0					14																	22363179		1932	4137	6069			28682							g.chr14:22363179G>A	AE000659		14q11.2	2012-02-07			ENSG00000211790	ENSG00000211790		"""T cell receptors / TRA locus"""	12149	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168995		14.37:g.22363179G>A														0	438	+									RNA	SNP	ENST00000390438.2	37																																																																																						0.502	TRAV8-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401893.1	NG_001332		27	76	0	0	0	1	0	27	76				
P2RY8	286530	broad.mit.edu	37	X	1584751	1584751	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:1584751C>T	ENST00000381297.4	-	2	911	c.701G>A	c.(700-702)cGc>cAc	p.R234H	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657			T	CRLF2	"""B-ALL, Downs associated ALL"""								c|||	1	0.000199681	0.0	0.0	5008	,	,		16692	0.0		0.0	False		,,,				2504	0.001					ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(700-702)cGc>cAc		purinergic receptor P2Y, G-protein coupled, 8							45.0	37.0	40.0					X																	1584751		2201	4293	6494	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584751C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.701G>A	X.37:g.1584751C>T	ENSP00000370697:p.Arg234His						p.R234H	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	911	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	234						Missense_Mutation	SNP	ENST00000381297.4	37	c.701G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	13.41	2.228024	0.39399	.	.	ENSG00000182162	ENST00000381297	T	0.43688	0.94	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.077802	0.49305	U	0.000143	T	0.58090	0.2098	L	0.58428	1.81	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.53027	-0.8496	10	0.87932	D	0	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	234	Q86VZ1	P2RY8_HUMAN	H	234	ENSP00000370697:R234H	ENSP00000370697:R234H	R	-	2	0	P2RY8	1544751	0.884000	0.30299	0.136000	0.22124	0.586000	0.36452	3.326000	0.52037	1.007000	0.39238	0.279000	0.19357	CGC		0.657	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		12	34	0	0	0	1	0	12	34				
ZNF765	91661	broad.mit.edu	37	19	53911277	53911277	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:53911277G>A	ENST00000396408.3	+	4	586	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	157					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)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATTTCACACTGAAGAGAAAAT	0.383																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(469-471)Gaa>Aaa		zinc finger protein 765							91.0	91.0	91.0					19																	53911277		2202	4300	6502	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911277G>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.469G>A	19.37:g.53911277G>A	ENSP00000379689:p.Glu157Lys					ZNF765_ENST00000594030.1_Intron	p.E157K	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	586	+			157					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.469G>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796781	0.16327	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07444	3.19;3.99	0.131	0.131	0.14755	.	.	.	.	.	T	0.06280	0.0162	L	0.40543	1.245	0.20074	N	0.999938	B	0.11235	0.004	B	0.17722	0.019	T	0.42258	-0.9462	8	.	.	.	.	3.6932	0.08354	1.0E-4:0.4899:0.5098:2.0E-4	.	157	Q7L2R6	ZN765_HUMAN	K	157;104	ENSP00000379689:E157K;ENSP00000421579:E104K	.	E	+	1	0	ZNF765	58603089	0.002000	0.14202	0.069000	0.20011	0.084000	0.17831	0.149000	0.16243	0.171000	0.19730	0.174000	0.16983	GAA		0.383	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		30	130	0	0	0	1	0	30	130				
MID1	4281	broad.mit.edu	37	X	10442739	10442739	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:10442739G>A	ENST00000317552.4	-	6	1465	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	MID1_ENST00000453318.2_Silent_p.L355L|MID1_ENST00000380787.1_Silent_p.L355L|MID1_ENST00000380782.2_Silent_p.L355L|MID1_ENST00000380785.1_Silent_p.L355L|MID1_ENST00000380779.1_Silent_p.L355L|MID1_ENST00000380780.1_Silent_p.L355L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	355	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGTGTCATTGAGGTTGATTT	0.378																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1063-1065)ctC>ctT		midline 1 (Opitz/BBB syndrome)							120.0	111.0	114.0					X																	10442739		2203	4300	6503	SO:0001819	synonymous_variant	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10442739G>A	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1065C>T	X.37:g.10442739G>A						MID1_ENST00000453318.2_Silent_p.L355L|MID1_ENST00000380779.1_Silent_p.L355L|MID1_ENST00000380780.1_Silent_p.L355L|MID1_ENST00000380782.2_Silent_p.L355L|MID1_ENST00000380785.1_Silent_p.L355L|MID1_ENST00000380787.1_Silent_p.L355L	p.L355L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			6	1465	-			355			COS.		B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	c.1065C>T	CCDS14138.1																																																																																				0.378	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			12	77	0	0	0	1	0	12	77				
AKAP13	11214	broad.mit.edu	37	15	86284631	86284631	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:86284631C>T	ENST00000394518.2	+	35	8058	c.7963C>T	c.(7963-7965)Cgt>Tgt	p.R2655C	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2655	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGACTGCGTGCTGCCCA	0.632																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7963-7965)Cgt>Tgt		A kinase (PRKA) anchor protein 13							46.0	43.0	44.0					15																	86284631		2200	4299	6499	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284631C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7963C>T	15.37:g.86284631C>T	ENSP00000378026:p.Arg2655Cys					AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000560579.1_3'UTR	p.R2655C	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8058	+			2655			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7963C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417009	0.62511	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.28069	1.63;1.63;1.63	5.47	5.47	0.80525	.	.	.	.	.	T	0.57636	0.2067	M	0.84082	2.675	0.48901	D	0.999722	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	T	0.63001	-0.6734	9	0.87932	D	0	.	13.3093	0.60370	0.1579:0.8421:0.0:0.0	.	2655;2659	Q12802;Q12802-2	AKP13_HUMAN;.	C	2659;2655;2658;2634;900	ENSP00000354718:R2659C;ENSP00000378026:R2655C;ENSP00000378018:R900C	ENSP00000354718:R2659C	R	+	1	0	AKAP13	84085635	1.000000	0.71417	0.994000	0.49952	0.598000	0.36846	2.824000	0.48088	2.554000	0.86153	0.655000	0.94253	CGT		0.632	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	36	0	0	0	1	0	7	36				
SP1	6667	broad.mit.edu	37	12	53800378	53800378	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53800378G>C	ENST00000327443.4	+	4	1783	c.1685G>C	c.(1684-1686)gGa>gCa	p.G562A	SP1_ENST00000426431.2_Missense_Mutation_p.G555A	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	562	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|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)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGTGATCATGGAGCTCAGCTT	0.493																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1663-1665)gGa>gCa		Sp1 transcription factor							104.0	97.0	100.0					12																	53800378		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53800378G>C	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1685G>C	12.37:g.53800378G>C	ENSP00000329357:p.Gly562Ala					SP1_ENST00000327443.4_Missense_Mutation_p.G562A	p.G555A	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	4	1724	+			562			Transactivation domain C (highly charged).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.1664G>C	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	G	7.054	0.565078	0.13498	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.07908	3.2;3.15	4.61	4.61	0.57282	.	0.107293	0.40728	N	0.001023	T	0.05547	0.0146	L	0.29908	0.895	0.33123	D	0.542083	B	0.25486	0.127	B	0.12837	0.008	T	0.13683	-1.0500	10	0.08599	T	0.76	.	10.9396	0.47266	0.0911:0.0:0.9089:0.0	.	562	P08047	SP1_HUMAN	A	562;555	ENSP00000329357:G562A;ENSP00000404263:G555A	ENSP00000329357:G562A	G	+	2	0	SP1	52086645	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.599000	0.46231	2.575000	0.86900	0.462000	0.41574	GGA		0.493	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			8	62	0	0	0	1	0	8	62				
NRCAM	4897	broad.mit.edu	37	7	107800849	107800849	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:107800849C>T	ENST00000425651.2	-	28	3554	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	NRCAM_ENST00000413765.2_Silent_p.L1061L|NRCAM_ENST00000379028.3_Silent_p.L1185L|NRCAM_ENST00000379024.4_Silent_p.L1073L|NRCAM_ENST00000351718.4_Silent_p.L1064L|NRCAM_ENST00000379022.4_Silent_p.L1185L	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1185					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCAAACAATCAGCAAAATTA	0.378																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3553-3555)ctG>ctA		neuronal cell adhesion molecule							116.0	112.0	113.0					7																	107800849		2203	4299	6502	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107800849C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3555G>A	7.37:g.107800849C>T						NRCAM_ENST00000379024.4_Silent_p.L1073L|NRCAM_ENST00000425651.2_Silent_p.L1185L|NRCAM_ENST00000351718.4_Silent_p.L1064L|NRCAM_ENST00000413765.2_Silent_p.L1061L|NRCAM_ENST00000379022.4_Silent_p.L1185L	p.L1185L			Q92823	NRCAM_HUMAN			31	4025	-			1185					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.3555G>A	CCDS47686.1																																																																																				0.378	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		25	68	0	0	0	1	0	25	68				
BLOC1S4	55330	broad.mit.edu	37	4	6718317	6718317	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:6718317G>C	ENST00000320776.3	+	1	476	c.381G>C	c.(379-381)gaG>gaC	p.E127D		NM_018366.2	NP_060836.1	Q9NUP1	BL1S4_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|platelet aggregation (GO:0070527)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)											AGGCCGCCGAGATGCGGCGCA	0.687																																						ENST00000320776.3																			0											c.(379-381)gaG>gaC		biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino							14.0	12.0	13.0					4																	6718317		2142	4220	6362	SO:0001583	missense	55330							g.chr4:6718317G>C	BC001818	CCDS3393.1	4p16.1	2012-08-01	2012-08-01	2012-08-01	ENSG00000186222	ENSG00000186222		"""Biogenesis of lysosomal organelles complex-1 subunits"""	24206	protein-coding gene	gene with protein product		605695	"""cappuccino homolog (mouse)"""	CNO		12576321, 11110696	Standard	NM_018366		Approved	FLJ11230, BCAS4L	uc003gjp.1	Q9NUP1	OTTHUMG00000125510	ENST00000320776.3:c.381G>C	4.37:g.6718317G>C	ENSP00000318128:p.Glu127Asp						p.E127D	NM_018366.2	NP_060836.1					1	476	+								Q6NVY6|Q96G84	Missense_Mutation	SNP	ENST00000320776.3	37	c.381G>C	CCDS3393.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872963	0.72180	.	.	ENSG00000186222	ENST00000320776	T	0.53423	0.62	4.25	2.5	0.30297	.	0.050694	0.85682	D	0.000000	T	0.50463	0.1617	M	0.68952	2.095	0.46260	D	0.99895	P	0.49559	0.925	P	0.49597	0.616	T	0.49244	-0.8960	10	0.59425	D	0.04	-15.0187	7.405	0.26985	0.2091:0.0:0.7909:0.0	.	127	Q9NUP1	CNO_HUMAN	D	127	ENSP00000318128:E127D	ENSP00000318128:E127D	E	+	3	2	CNO	6769218	1.000000	0.71417	0.984000	0.44739	0.727000	0.41649	1.169000	0.31871	0.516000	0.28340	0.561000	0.74099	GAG		0.687	BLOC1S4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246837.1	NM_018366		3	13	0	0	0	1	0	3	13				
APC	324	broad.mit.edu	37	5	112177070	112177070	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:112177070C>T	ENST00000457016.1	+	16	6159	c.5779C>T	c.(5779-5781)Ctt>Ttt	p.L1927F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1927F|APC_ENST00000257430.4_Missense_Mutation_p.L1927F			P25054	APC_HUMAN	adenomatous polyposis coli	1927	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAAACCCATACTTCAGAAACA	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(5779-5781)Ctt>Ttt		adenomatous polyposis coli							125.0	112.0	116.0					5																	112177070		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177070C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5779C>T	5.37:g.112177070C>T	ENSP00000413133:p.Leu1927Phe	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1927F|APC_ENST00000508376.2_Missense_Mutation_p.L1927F	p.L1927F			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6159	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1927			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5779C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	0.558	-0.846406	0.02671	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89485	-2.52;-2.52;-2.52	5.6	5.6	0.85130	.	0.112209	0.39210	N	0.001432	T	0.80939	0.4720	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.64411	-0.6414	9	.	.	.	-0.9951	9.7429	0.40429	0.156:0.6933:0.1508:0.0	.	1929;1927	Q4LE70;P25054	.;APC_HUMAN	F	1927	ENSP00000413133:L1927F;ENSP00000257430:L1927F;ENSP00000427089:L1927F	.	L	+	1	0	APC	112204969	0.168000	0.22989	0.112000	0.21494	0.023000	0.10783	2.311000	0.43717	2.646000	0.89796	0.650000	0.86243	CTT		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		22	61	0	0	0	1	0	22	61				
HSPA2	3306	broad.mit.edu	37	14	65007732	65007732	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65007732C>T	ENST00000394709.1	+	2	241	c.165C>T	c.(163-165)gcC>gcT	p.A55A	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000247207.6_Silent_p.A55A			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCGGCGACGCCGCCAAGAACC	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(163-165)gcC>gcT		heat shock 70kDa protein 2							99.0	74.0	82.0					14																	65007732		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007732C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.165C>T	14.37:g.65007732C>T						HSPA2_ENST00000394709.1_Silent_p.A55A|HSPA2_ENST00000554883.1_Intron	p.A55A	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	547	+			55					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.165C>T	CCDS9766.1																																																																																				0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			13	51	0	0	0	1	0	13	51				
CCR9	10803	broad.mit.edu	37	3	45943218	45943218	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:45943218A>G	ENST00000357632.2	+	3	1118	c.938A>G	c.(937-939)aAc>aGc	p.N313S	CCR9_ENST00000355983.2_Missense_Mutation_p.N301S|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	313					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGTTGCCTGAACCCTGTTCTC	0.517																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(937-939)aAc>aGc		chemokine (C-C motif) receptor 9							130.0	119.0	123.0					3																	45943218		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943218A>G	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.938A>G	3.37:g.45943218A>G	ENSP00000350256:p.Asn313Ser					CCR9_ENST00000395963.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR	p.N313S	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1118	+			313					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.938A>G	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299923	0.81136	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	D;D;D	0.85484	-1.99;-1.99;-1.99	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95770	0.8808	10	0.87932	D	0	.	14.6699	0.68937	1.0:0.0:0.0:0.0	.	313	P51686	CCR9_HUMAN	S	313;301;301	ENSP00000350256:N313S;ENSP00000379292:N301S;ENSP00000348260:N301S	ENSP00000348260:N301S	N	+	2	0	CCR9	45918222	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.233000	0.95337	1.858000	0.53909	0.460000	0.39030	AAC		0.517	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			17	55	0	0	0	1	0	17	55				
SETD2	29072	broad.mit.edu	37	3	47079269	47079269	+	Splice_Site	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:47079269T>A	ENST00000409792.3	-	18	7281		c.e18-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		2	Unknown(2)	p.?(2)	kidney(2)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e18-2		SET domain containing 2							87.0	76.0	80.0					3																	47079269		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47079269T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7239-2A>T	3.37:g.47079269T>A								NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	18	7281	-		Acute lymphoblastic leukemia(5;0.0169)						O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37		CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.927127	0.92389	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47054273	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.922000	0.87538	2.281000	0.76405	0.533000	0.62120	.		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Intron	14	35	0	0	0	1	0	14	35				
ZMIZ1	57178	broad.mit.edu	37	10	81051996	81051996	+	Silent	SNP	G	G	A	rs375414407		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:81051996G>A	ENST00000334512.5	+	11	1412	c.840G>A	c.(838-840)gcG>gcA	p.A280A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	280	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCAGCCCgcggcagccgctg	0.672																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(838-840)gcG>gcA		zinc finger, MIZ-type containing 1		G		1,4345		0,1,2172	39.0	47.0	44.0		840	-10.3	0.0	10		44	0,8496		0,0,4248	no	coding-synonymous	ZMIZ1	NM_020338.3		0,1,6420	AA,AG,GG		0.0,0.023,0.0078		280/1068	81051996	1,12841	2173	4248	6421	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81051996G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.840G>A	10.37:g.81051996G>A						ZMIZ1_ENST00000478357.1_3'UTR	p.A280A	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1412	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		280			Ala-rich.		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.840G>A	CCDS7357.1																																																																																				0.672	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		31	91	0	0	0	1	0	31	91				
C11orf87	399947	broad.mit.edu	37	11	109294765	109294765	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:109294765C>T	ENST00000327419.6	+	2	809	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	136						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGGCAGCCCCGGGACTCTCC	0.726																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(406-408)Cgg>Tgg		chromosome 11 open reading frame 87							48.0	56.0	54.0					11																	109294765		2200	4298	6498	SO:0001583	missense	399947					integral to membrane		g.chr11:109294765C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.406C>T	11.37:g.109294765C>T	ENSP00000331581:p.Arg136Trp					RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.R136W	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	809	+			136					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.406C>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856267	0.51376	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.27	1.1	0.20463	.	0.459579	0.15554	U	0.256272	T	0.25975	0.0633	N	0.14661	0.345	0.34859	D	0.742455	B	0.15930	0.015	B	0.12837	0.008	T	0.13019	-1.0525	9	0.87932	D	0	-0.0708	3.7292	0.08487	0.2953:0.4773:0.1441:0.0833	.	136	Q6NUJ2	CK087_HUMAN	W	136	.	ENSP00000331581:R136W	R	+	1	2	C11orf87	108799975	0.364000	0.24997	0.997000	0.53966	0.823000	0.46562	0.423000	0.21313	0.105000	0.17753	0.655000	0.94253	CGG		0.726	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		17	77	0	0	0	1	0	17	77				
NAV1	89796	broad.mit.edu	37	1	201687586	201687586	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:201687586G>A	ENST00000367296.4	+	3	1349	c.929G>A	c.(928-930)cGc>cAc	p.R310H	NAV1_ENST00000367297.4_Missense_Mutation_p.R310H|NAV1_ENST00000367302.1_Missense_Mutation_p.R323H|MIR5191_ENST00000577455.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.R310H|NAV1_ENST00000295624.6_Missense_Mutation_p.R310H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	310					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCTCCAACCGCTCGTCCCCT	0.662																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(928-930)cGc>cAc		neuron navigator 1							62.0	53.0	56.0					1																	201687586		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201687586G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.929G>A	1.37:g.201687586G>A	ENSP00000356265:p.Arg310His					IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R323H|NAV1_ENST00000295624.6_Missense_Mutation_p.R310H|NAV1_ENST00000367297.4_Missense_Mutation_p.R310H|NAV1_ENST00000367300.3_Missense_Mutation_p.R310H	p.R310H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			3	1349	+			310					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.929G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998718	0.93227	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.58	4.66	0.58398	.	0.113021	0.64402	N	0.000009	T	0.64125	0.2570	M	0.73962	2.25	0.47819	D	0.99952	D	0.89917	1.0	D	0.85130	0.997	T	0.68792	-0.5315	10	0.87932	D	0	-22.5	13.8503	0.63492	0.0744:0.0:0.9255:0.0	.	310	Q8NEY1-3	.	H	323;310;310;310;310	ENSP00000356271:R323H;ENSP00000356265:R310H;ENSP00000295624:R310H;ENSP00000356266:R310H;ENSP00000356269:R310H	ENSP00000295624:R310H	R	+	2	0	NAV1	199954209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.073000	0.93992	1.336000	0.45506	0.563000	0.77884	CGC		0.662	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		10	39	0	0	0	1	0	10	39				
NLRP3	114548	broad.mit.edu	37	1	247599380	247599380	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:247599380C>A	ENST00000336119.3	+	6	3353	c.2607C>A	c.(2605-2607)gaC>gaA	p.D869E	NLRP3_ENST00000391828.3_Missense_Mutation_p.D869E|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.D812E|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	869					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTTGGGAGACTCAGGAGTCG	0.478																																						ENST00000336119.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2605-2607)gaC>gaA		NLR family, pyrin domain containing 3							112.0	103.0	106.0					1																	247599380		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247599380C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2607C>A	1.37:g.247599380C>A	ENSP00000337383:p.Asp869Glu					NLRP3_ENST00000391827.2_Missense_Mutation_p.D812E|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.D869E	p.D869E	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3353	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	869					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2607C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	c	6.679	0.493827	0.12702	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.50277	0.75;0.75;0.75	3.63	0.693	0.18056	.	0.000000	0.38058	N	0.001828	T	0.44787	0.1310	M	0.78916	2.43	0.49213	D	0.999764	P;P;P	0.51791	0.948;0.939;0.929	B;B;B	0.42738	0.359;0.396;0.296	T	0.43491	-0.9388	10	0.87932	D	0	.	5.9484	0.19232	0.0:0.655:0.0:0.345	.	849;812;869	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	E	869;869;812	ENSP00000375704:D869E;ENSP00000337383:D869E;ENSP00000375703:D812E	ENSP00000337383:D869E	D	+	3	2	NLRP3	245666003	0.013000	0.17824	0.251000	0.24312	0.006000	0.05464	-0.155000	0.10115	0.170000	0.19704	0.536000	0.68110	GAC		0.478	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		17	50	1	0	3.52763e-06	1	3.66651e-06	17	50				
AGO2	27161	broad.mit.edu	37	8	141559377	141559377	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:141559377C>T	ENST00000220592.5	-	12	1536	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	AGO2_ENST00000519980.1_Missense_Mutation_p.R475K	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	475					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CGAGATCTTTCTGAGCTGCTC	0.622																																						ENST00000220592.5																			0											c.(1423-1425)aGa>aAa		argonaute RISC catalytic component 2							44.0	41.0	42.0					8																	141559377		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141559377C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1424G>A	8.37:g.141559377C>T	ENSP00000220592:p.Arg475Lys					AGO2_ENST00000519980.1_Missense_Mutation_p.R475K	p.R475K	NM_012154.3	NP_036286.2					12	1536	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1424G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490633	0.44249	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.05319	3.46;3.46	5.28	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	M	0.72479	2.2	0.58432	D	0.999993	B;B	0.20164	0.042;0.015	B;B	0.23018	0.043;0.019	T	0.08659	-1.0711	10	0.13108	T	0.6	-16.435	11.88	0.52568	0.0:0.8961:0.0:0.1039	.	475;475	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	K	475	ENSP00000220592:R475K;ENSP00000430176:R475K	ENSP00000220592:R475K	R	-	2	0	EIF2C2	141628559	0.992000	0.36948	0.608000	0.28969	0.853000	0.48598	7.697000	0.84279	1.116000	0.41820	0.563000	0.77884	AGA		0.622	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			7	41	0	0	0	1	0	7	41				
CERCAM	51148	broad.mit.edu	37	9	131190588	131190588	+	Silent	SNP	C	C	T	rs369693807		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131190588C>T	ENST00000372838.4	+	6	1172	c.774C>T	c.(772-774)tcC>tcT	p.S258S	CERCAM_ENST00000372842.1_Silent_p.S180S	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	258					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGGGGTCTCCGTCCACGTGT	0.582																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(538-540)tcC>tcT		cerebral endothelial cell adhesion molecule		C		0,4406		0,0,2203	70.0	61.0	64.0		774	-10.1	0.0	9		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CERCAM	NM_016174.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		258/596	131190588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131190588C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.774C>T	9.37:g.131190588C>T						CERCAM_ENST00000372838.4_Silent_p.S258S	p.S180S			Q5T4B2	GT253_HUMAN			7	3684	+			258					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Silent	SNP	ENST00000372838.4	37	c.540C>T	CCDS6901.2																																																																																				0.582	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		8	47	0	0	0	1	0	8	47				
LRP10	26020	broad.mit.edu	37	14	23346342	23346342	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23346342C>T	ENST00000359591.4	+	7	2439	c.1748C>T	c.(1747-1749)aCa>aTa	p.T583I	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	583					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TCCCAGGTCACACCTTCTGCT	0.692																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1747-1749)aCa>aTa		low density lipoprotein receptor-related protein 10							39.0	47.0	44.0					14																	23346342		2203	4298	6501	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346342C>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1748C>T	14.37:g.23346342C>T	ENSP00000352601:p.Thr583Ile					LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	p.T583I	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2439	+	all_cancers(95;4.69e-05)		583					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1748C>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	8.513	0.866865	0.17250	.	.	ENSG00000197324	ENST00000359591	D	0.92911	-3.13	5.43	4.54	0.55810	.	0.716190	0.14459	N	0.318276	D	0.88081	0.6341	L	0.40543	1.245	0.32734	N	0.508629	B	0.16802	0.019	B	0.14023	0.01	D	0.87168	0.2219	10	0.48119	T	0.1	-0.0987	11.4706	0.50266	0.0:0.9146:0.0:0.0854	.	583	Q7Z4F1	LRP10_HUMAN	I	583	ENSP00000352601:T583I	ENSP00000352601:T583I	T	+	2	0	LRP10	22416182	0.001000	0.12720	0.041000	0.18516	0.132000	0.20833	1.312000	0.33574	1.421000	0.47157	0.462000	0.41574	ACA		0.692	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			17	32	0	0	0	1	0	17	32				
HAS2	3037	broad.mit.edu	37	8	122641508	122641508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:122641508C>A	ENST00000303924.4	-	2	610	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	25					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGTGATTCCAAGGAGGAGA	0.393																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(73-75)Gga>Tga		hyaluronan synthase 2							68.0	66.0	66.0					8																	122641508		2203	4299	6502	SO:0001587	stop_gained	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641508C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.73G>T	8.37:g.122641508C>A	ENSP00000306991:p.Gly25*						p.G25*	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	610	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		25					Q32MM3	Nonsense_Mutation	SNP	ENST00000303924.4	37	c.73G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	42	9.325781	0.99137	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.9399	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000306991:G25X	G	-	1	0	HAS2	122710689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.766000	0.85320	2.941000	0.99782	0.655000	0.94253	GGA		0.393	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		44	62	1	0	2.37825e-27	1	2.62702e-27	44	62				
AKAP5	9495	broad.mit.edu	37	14	64936100	64936100	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:64936100G>A	ENST00000394718.4	+	2	1366	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E330K	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	330					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATCCAAATCAGAAGAAAGCAA	0.323																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(988-990)Gaa>Aaa		A kinase (PRKA) anchor protein 5							84.0	90.0	88.0					14																	64936100		2203	4300	6503	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936100G>A	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.988G>A	14.37:g.64936100G>A	ENSP00000378207:p.Glu330Lys					AKAP5_ENST00000394718.3_Missense_Mutation_p.E330K|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	p.E330K			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2276	+			330					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.988G>A	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638111	0.67130	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.26810	1.71;1.71	5.61	5.61	0.85477	.	0.266230	0.29396	N	0.012276	T	0.40040	0.1101	L	0.27053	0.805	0.27497	N	0.952116	D	0.89917	1.0	D	0.72075	0.976	T	0.23762	-1.0179	10	0.87932	D	0	-19.2555	17.7743	0.88502	0.0:0.0:1.0:0.0	.	330	P24588	AKAP5_HUMAN	K	330	ENSP00000378207:E330K;ENSP00000315615:E330K	ENSP00000315615:E330K	E	+	1	0	AKAP5	64005853	1.000000	0.71417	0.980000	0.43619	0.290000	0.27261	4.285000	0.58989	2.793000	0.96121	0.655000	0.94253	GAA		0.323	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			24	86	0	0	0	1	0	24	86				
PCLO	27445	broad.mit.edu	37	7	82595455	82595455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:82595455C>A	ENST00000333891.9	-	4	3986	c.3649G>T	c.(3649-3651)Gaa>Taa	p.E1217*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E1217*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTTTTTTTCTTCAGGGAGT	0.373																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3649-3651)Gaa>Taa		piccolo presynaptic cytomatrix protein							164.0	157.0	159.0					7																	82595455		1792	4069	5861	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595455C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3649G>T	7.37:g.82595455C>A	ENSP00000334319:p.Glu1217*					PCLO_ENST00000333891.8_Nonsense_Mutation_p.E1217*	p.E1217*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3986	-			1156						Nonsense_Mutation	SNP	ENST00000333891.9	37	c.3649G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	41	9.134165	0.99077	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.33	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.888	0.58055	0.0:0.9237:0.0:0.0763	.	.	.	.	X	1156;1217;1217	.	ENSP00000334319:E1217X	E	-	1	0	PCLO	82433391	0.971000	0.33674	0.856000	0.33681	0.261000	0.26267	4.369000	0.59511	1.570000	0.49709	0.655000	0.94253	GAA		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		49	164	1	0	4.21674e-32	1	4.69712e-32	49	164				
CHD6	84181	broad.mit.edu	37	20	40120426	40120426	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:40120426C>T	ENST00000373233.3	-	11	1525	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CHD6_ENST00000309279.7_Missense_Mutation_p.E450K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	450	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGAGACTTCTCAAGTTTCTGC	0.448																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1348-1350)Gag>Aag		chromodomain helicase DNA binding protein 6							90.0	92.0	91.0					20																	40120426		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40120426C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1348G>A	20.37:g.40120426C>T	ENSP00000362330:p.Glu450Lys					CHD6_ENST00000309279.7_Missense_Mutation_p.E450K	p.E450K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			11	1525	-		Myeloproliferative disorder(115;0.00425)	450					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1348G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863033	0.91511	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	D;D	0.95205	-2.13;-3.64	4.67	4.67	0.58626	.	0.000000	0.56097	D	0.000029	D	0.94686	0.8286	M	0.67397	2.05	0.49213	D	0.999766	B	0.33826	0.427	B	0.40864	0.342	D	0.95140	0.8263	10	0.72032	D	0.01	-23.0255	17.9265	0.88985	0.0:1.0:0.0:0.0	.	450	Q8TD26	CHD6_HUMAN	K	450	ENSP00000362330:E450K;ENSP00000308684:E450K	ENSP00000308684:E450K	E	-	1	0	CHD6	39553840	1.000000	0.71417	0.960000	0.40013	0.954000	0.61252	6.039000	0.70972	2.290000	0.77057	0.561000	0.74099	GAG		0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	99	0	0	0	1	0	24	99				
ZNF233	353355	broad.mit.edu	37	19	44771188	44771188	+	Intron	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44771188C>T	ENST00000391958.2	+	4	365				ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_Silent_p.T104T|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				cctcagccaccagcctggccc	0.557																																						ENST00000592581.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(310-312)acC>acT		zinc finger protein 233																																				SO:0001627	intron_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44771188C>T	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.238+74C>T	19.37:g.44771188C>T						ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000391958.2_Intron	p.T104T	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN			4	418	+		Prostate(69;0.0435)|all_neural(266;0.226)	668					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.312C>T	CCDS33047.1																																																																																				0.557	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		8	9	0	0	0	1	0	8	9				
CPT2	1376	broad.mit.edu	37	1	53675717	53675717	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53675717G>A	ENST00000371486.3	+	4	886	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	124					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTATCTGCTCGAGACTCCGTT	0.353																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15	GRCh37	CM030819	CPT2	M		c.(370-372)cGa>cAa		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						107.0	112.0	111.0					1																	53675717		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53675717G>A	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.371G>A	1.37:g.53675717G>A	ENSP00000360541:p.Arg124Gln						p.R124Q	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	886	+			124					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.371G>A	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068055	0.93950	.	.	ENSG00000157184	ENST00000371486	D	0.92595	-3.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98574	1.0647	10	0.87932	D	0	-0.4151	19.8215	0.96599	0.0:0.0:1.0:0.0	.	124	P23786	CPT2_HUMAN	Q	124	ENSP00000360541:R124Q	ENSP00000360541:R124Q	R	+	2	0	CPT2	53448305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.679000	0.91253	0.650000	0.86243	CGA		0.353	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		20	135	0	0	0	1	0	20	135				
PCDHA9	9752	broad.mit.edu	37	5	140230326	140230326	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140230326C>T	ENST00000532602.1	+	1	3279	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.S749L|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	749	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTTGGTCGTACTCGCAG	0.647																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(2245-2247)tCg>tTg									84.0	79.0	81.0					5																	140230326		2197	4273	6470	SO:0001583	missense	9752							g.chr5:140230326C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2246C>T	5.37:g.140230326C>T	ENSP00000436042:p.Ser749Leu					PCDHA9_ENST00000532602.1_Missense_Mutation_p.S749L|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.S749L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2970	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2246C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112088	0.56398	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.18338	2.22;2.22	4.61	4.61	0.57282	.	0.000000	0.29100	U	0.013160	T	0.49847	0.1581	M	0.93763	3.455	0.80722	D	1	B;D	0.76494	0.421;0.999	B;D	0.77557	0.071;0.99	T	0.61143	-0.7122	10	0.87932	D	0	.	11.3492	0.49577	0.0:0.9154:0.0:0.0846	.	749;749	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	749	ENSP00000436042:S749L;ENSP00000367362:S749L	ENSP00000367362:S749L	S	+	2	0	PCDHA9	140210510	0.386000	0.25180	0.882000	0.34594	0.481000	0.33189	1.006000	0.29847	2.241000	0.73720	0.491000	0.48974	TCG		0.647	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		6	133	0	0	0	1	0	6	133				
USP4	7375	broad.mit.edu	37	3	49339923	49339923	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:49339923G>C	ENST00000265560.4	-	10	1227	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	USP4_ENST00000351842.4_Missense_Mutation_p.S347C|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	394	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CAGCTCCTGAGAATCTTGTTG	0.453																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1039-1041)tCt>tGt		ubiquitin specific peptidase 4 (proto-oncogene)							86.0	87.0	87.0					3																	49339923		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49339923G>C	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1181C>G	3.37:g.49339923G>C	ENSP00000265560:p.Ser394Cys					USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.S394C	p.S347C	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	9	1048	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	394					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1040C>G	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.086741|4.086741	0.76642|0.76642	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.03094	.|4.05;4.05	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.08670|0.08670	0.0215|0.0215	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.39920	.|0.603;0.695;0.407	.|B;B;B	.|0.41174	.|0.259;0.349;0.182	T|T	0.13282|0.13282	-1.0515|-1.0515	5|10	.|0.33940	.|T	.|0.23	-18.294|-18.294	18.497|18.497	0.90869|0.90869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|347;394;394	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	L|C	150|347;394	.|ENSP00000341028:S347C;ENSP00000265560:S394C	.|ENSP00000265560:S394C	F|S	-|-	3|2	2|0	USP4|USP4	49314927|49314927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.036000|4.036000	0.57304|0.57304	2.712000|2.712000	0.92718|0.92718	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.453	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		19	59	0	0	0	1	0	19	59				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	50	0	0	0	1	0	4	50				
TRPM4	54795	broad.mit.edu	37	19	49703924	49703924	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:49703924C>T	ENST00000252826.5	+	19	2961	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	TRPM4_ENST00000355712.5_Silent_p.G591G|TRPM4_ENST00000427978.2_Silent_p.G800G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	945					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TAGCCTATGGCGTGGCCACGG	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2833-2835)ggC>ggT		transient receptor potential cation channel, subfamily M, member 4							46.0	46.0	46.0					19																	49703924		2202	4297	6499	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49703924C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2835C>T	19.37:g.49703924C>T						TRPM4_ENST00000355712.5_Silent_p.G591G|TRPM4_ENST00000427978.2_Silent_p.G800G	p.G945G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	19	2961	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	945					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.2835C>T	CCDS33073.1																																																																																				0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		14	45	0	0	0	1	0	14	45				
OPLAH	26873	broad.mit.edu	37	8	145113144	145113144	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:145113144C>T	ENST00000426825.1	-	7	1028	c.947G>A	c.(946-948)gGa>gAa	p.G316E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	316					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCATACCTCCCATGTCAAA	0.692																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(946-948)gGa>gAa		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						16.0	19.0	18.0					8																	145113144		1922	4107	6029	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145113144C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.947G>A	8.37:g.145113144C>T	ENSP00000475943:p.Gly316Glu					OPLAH_ENST00000534424.1_5'UTR	p.G316E	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1028	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		316					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.947G>A		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474236	0.43942	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	.	.	.	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84930	0.0859	7	0.87932	D	0	.	14.154	0.65405	0.0:1.0:0.0:0.0	.	316;316	A7E261;O14841	.;OPLA_HUMAN	E	316	.	ENSP00000412071:G316E	G	-	2	0	OPLAH	145185132	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.300000	0.65721	1.898000	0.54952	0.467000	0.42956	GGA		0.692	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		10	25	0	0	0	1	0	10	25				
CCNB3	85417	broad.mit.edu	37	X	50053732	50053732	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:50053732C>G	ENST00000376042.1	+	6	2861	c.2563C>G	c.(2563-2565)Cac>Gac	p.H855D	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H855D			Q8WWL7	CCNB3_HUMAN	cyclin B3	855					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CACAGAAGCTCACTTTAAGGA	0.532																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2563-2565)Cac>Gac		cyclin B3							43.0	34.0	37.0					X																	50053732		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053732C>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2563C>G	X.37:g.50053732C>G	ENSP00000365210:p.His855Asp					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H855D	p.H855D			Q8WWL7	CCNB3_HUMAN			6	2861	+	Ovarian(276;0.236)		855					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2563C>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136466	0.09032	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34072	1.38;1.38	2.93	-1.35	0.09114	.	11.958800	0.00166	N	0.000002	T	0.22085	0.0532	L	0.29908	0.895	0.09310	N	1	P	0.34977	0.478	B	0.28305	0.088	T	0.05146	-1.0903	9	.	.	.	.	2.4547	0.04526	0.4065:0.3213:0.0:0.2723	.	855	Q8WWL7	CCNB3_HUMAN	D	855	ENSP00000365210:H855D;ENSP00000276014:H855D	.	H	+	1	0	CCNB3	50070472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.821000	0.00749	-0.478000	0.06823	-0.302000	0.09304	CAC		0.532	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			7	15	0	0	0	1	0	7	15				
DCLK2	166614	broad.mit.edu	37	4	151114318	151114318	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:151114318A>G	ENST00000296550.7	+	3	1539	c.785A>G	c.(784-786)gAt>gGt	p.D262G	DCLK2_ENST00000506325.1_Missense_Mutation_p.D262G|DCLK2_ENST00000302176.8_Missense_Mutation_p.D262G|DCLK2_ENST00000507694.1_3'UTR	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	262	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTTTTGGTGATGACGATGTT	0.343																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(784-786)gAt>gGt		doublecortin-like kinase 2							248.0	232.0	238.0					4																	151114318		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151114318A>G	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.785A>G	4.37:g.151114318A>G	ENSP00000296550:p.Asp262Gly					DCLK2_ENST00000506325.1_Missense_Mutation_p.D262G|DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000302176.8_Missense_Mutation_p.D262G	p.D262G	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			3	1539	+	all_hematologic(180;0.151)		262			Doublecortin 2.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.785A>G	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687293	0.88639	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.94613	-3.47;-3.47;-3.47	5.74	5.74	0.90152	Doublecortin domain (5);	0.092789	0.64402	D	0.000001	D	0.95921	0.8672	L	0.56199	1.76	0.80722	D	1	D;P;P	0.53885	0.963;0.951;0.88	D;P;P	0.63113	0.911;0.82;0.84	D	0.96140	0.9099	10	0.62326	D	0.03	.	15.0371	0.71757	1.0:0.0:0.0:0.0	.	262;262;262	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	G	262	ENSP00000296550:D262G;ENSP00000427235:D262G;ENSP00000303887:D262G	ENSP00000296550:D262G	D	+	2	0	DCLK2	151333768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.964000	0.93389	2.191000	0.70037	0.528000	0.53228	GAT		0.343	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		51	72	0	0	0	1	0	51	72				
GMPS	8833	broad.mit.edu	37	3	155632226	155632226	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:155632226C>G	ENST00000496455.2	+	8	1240	c.905C>G	c.(904-906)tCt>tGt	p.S302C	GMPS_ENST00000295920.7_Missense_Mutation_p.S203C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	302	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.S302F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCTGCTCATTCTTTCTACAAT	0.343			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		1	Substitution - Missense(1)	p.S302F(1)	cervix(1)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(904-906)tCt>tGt		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						115.0	105.0	108.0					3																	155632226		1835	4081	5916	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155632226C>G	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.905C>G	3.37:g.155632226C>G	ENSP00000419851:p.Ser302Cys					GMPS_ENST00000295920.7_Missense_Mutation_p.S203C	p.S302C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		8	1240	+			302					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.905C>G	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020271	0.54576	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	T;T	0.44482	0.92;0.92	5.88	5.88	0.94601	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.060754	0.64402	D	0.000002	T	0.40347	0.1113	L	0.48362	1.52	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.12156	0.004;0.007	T	0.12091	-1.0561	10	0.48119	T	0.1	-10.6935	16.4624	0.84064	0.0:0.869:0.131:0.0	.	203;302	F8W720;P49915	.;GUAA_HUMAN	C	302;203;251;302	ENSP00000419851:S302C;ENSP00000295920:S203C	ENSP00000295920:S203C	S	+	2	0	GMPS	157114920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.555000	0.67301	2.780000	0.95670	0.655000	0.94253	TCT		0.343	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			12	62	0	0	0	1	0	12	62				
PGBD5	79605	broad.mit.edu	37	1	230492802	230492802	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:230492802G>A	ENST00000525115.1	-	2	413	c.390C>T	c.(388-390)ctC>ctT	p.L130L	PGBD5_ENST00000391860.1_Silent_p.L84L|PGBD5_ENST00000321327.2_Silent_p.L229L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	130						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACGAGGGCGAGGCTGCGGT	0.612																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(685-687)ctC>ctT		piggyBac transposable element derived 5							96.0	79.0	85.0					1																	230492802		2203	4300	6503	SO:0001819	synonymous_variant	79605					integral to membrane		g.chr1:230492802G>A	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.390C>T	1.37:g.230492802G>A						PGBD5_ENST00000391860.1_Silent_p.L84L|PGBD5_ENST00000525115.1_Silent_p.L130L	p.L229L			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	686	-	Breast(184;0.0397)	Prostate(94;0.167)	130					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	ENST00000525115.1	37	c.687C>T																																																																																					0.612	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		14	42	0	0	0	1	0	14	42				
OR13F1	138805	broad.mit.edu	37	9	107267046	107267046	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:107267046T>A	ENST00000334726.2	+	1	592	c.503T>A	c.(502-504)cTc>cAc	p.L168H		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACTGTCTCTCTGTGGTAAT	0.473																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(502-504)cTc>cAc		olfactory receptor, family 13, subfamily F, member 1							184.0	175.0	178.0					9																	107267046		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267046T>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.503T>A	9.37:g.107267046T>A	ENSP00000334452:p.Leu168His						p.L168H	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	592	+			168					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.503T>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	T	9.667	1.145815	0.21288	.	.	ENSG00000186881	ENST00000334726	T	0.00245	8.45	4.29	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.645612	0.13537	N	0.380534	T	0.00384	0.0012	L	0.57536	1.79	0.23309	N	0.997936	D	0.58970	0.984	D	0.66351	0.943	T	0.52041	-0.8628	10	0.72032	D	0.01	.	7.5012	0.27520	0.0:0.1848:0.0:0.8152	.	168	Q8NGS4	O13F1_HUMAN	H	168	ENSP00000334452:L168H	ENSP00000334452:L168H	L	+	2	0	OR13F1	106306867	0.061000	0.20836	0.838000	0.33150	0.023000	0.10783	1.282000	0.33226	0.431000	0.26258	-0.267000	0.10333	CTC		0.473	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			39	131	0	0	0	1	0	39	131				
KIAA1462	57608	broad.mit.edu	37	10	30317632	30317632	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:30317632G>T	ENST00000375377.1	-	3	1546	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	482					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCCGACGGGGGTATTAAGCT	0.597																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1444-1446)cCc>cAc		KIAA1462							57.0	61.0	59.0					10																	30317632		1847	4094	5941	SO:0001583	missense	57608							g.chr10:30317632G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1445C>A	10.37:g.30317632G>T	ENSP00000364526:p.Pro482His						p.P482H	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1546	-			482					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1445C>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804544	0.50315	.	.	ENSG00000165757	ENST00000375377	T	0.14516	2.5	4.98	4.06	0.47325	.	0.723547	0.13627	N	0.373966	T	0.22975	0.0555	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.07849	-1.0751	10	0.62326	D	0.03	-0.0859	6.3734	0.21493	0.1737:0.1997:0.6265:0.0	.	482	Q9P266	K1462_HUMAN	H	482	ENSP00000364526:P482H	ENSP00000364526:P482H	P	-	2	0	KIAA1462	30357638	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.074000	0.11450	1.068000	0.40764	0.561000	0.74099	CCC		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		26	89	1	0	4.87955e-14	1	5.32315e-14	26	89				
ANGPT2	285	broad.mit.edu	37	8	6366505	6366505	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:6366505C>T	ENST00000325203.5	-	8	1752	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	ANGPT2_ENST00000523120.1_Silent_p.K425K|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.K374K|ANGPT2_ENST00000415216.1_Silent_p.K425K			O15123	ANGP2_HUMAN	angiopoietin 2	426	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGTCTCCATCCTTTGTGCTAA	0.403																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1276-1278)aaG>aaA		angiopoietin 2							268.0	232.0	244.0					8																	6366505		2203	4300	6503	SO:0001819	synonymous_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6366505C>T	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1278G>A	8.37:g.6366505C>T						MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.K374K|ANGPT2_ENST00000415216.1_Silent_p.K425K|ANGPT2_ENST00000523120.1_Silent_p.K425K	p.K426K			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	8	1752	-		Hepatocellular(245;0.0663)	426			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	ENST00000325203.5	37	c.1278G>A	CCDS5958.1																																																																																				0.403	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		16	77	0	0	0	1	0	16	77				
GABRP	2568	broad.mit.edu	37	5	170236718	170236718	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:170236718G>T	ENST00000518525.1	+	10	1443	c.979G>T	c.(979-981)Gct>Tct	p.A327S	GABRP_ENST00000519598.1_Missense_Mutation_p.A327S|GABRP_ENST00000265294.4_Missense_Mutation_p.A327S|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	327					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATATGCAGTTGCTCACTACAG	0.498											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(979-981)Gct>Tct		gamma-aminobutyric acid (GABA) A receptor, pi							241.0	202.0	216.0					5																	170236718		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170236718G>T	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.979G>T	5.37:g.170236718G>T	ENSP00000430100:p.Ala327Ser		OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	GABRP_ENST00000519598.1_Missense_Mutation_p.A327S|GABRP_ENST00000265294.4_Missense_Mutation_p.A327S|GABRP_ENST00000519385.1_Intron	p.A327S			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1443	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	327					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.979G>T	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249385	0.95305	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.82081	-1.57;-1.57;-1.57	5.53	5.53	0.82687	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.90999	0.4841	10	0.87932	D	0	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	327	O00591	GBRP_HUMAN	S	327	ENSP00000430100:A327S;ENSP00000265294:A327S;ENSP00000430772:A327S	ENSP00000265294:A327S	A	+	1	0	GABRP	170169296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.605000	0.88082	0.655000	0.94253	GCT		0.498	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		23	70	1	0	2.21704e-12	1	2.36007e-12	23	70				
HRH3	11255	broad.mit.edu	37	20	60794907	60794907	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:60794907G>A	ENST00000340177.5	-	1	404	c.120C>T	c.(118-120)ctC>ctT	p.L40L	HRH3_ENST00000317393.6_Silent_p.L40L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	40					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GCAGCGCCATGAGCGCGGCCA	0.741																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(118-120)ctC>ctT		histamine receptor H3	Histamine Phosphate(DB00667)						20.0	20.0	20.0					20																	60794907		2190	4291	6481	SO:0001819	synonymous_variant	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60794907G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.120C>T	20.37:g.60794907G>A						HRH3_ENST00000317393.6_Silent_p.L40L	p.L40L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		1	404	-	Breast(26;7.76e-09)		40					Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	37	c.120C>T	CCDS13493.1																																																																																				0.741	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		7	28	0	0	0	1	0	7	28				
ATP2A1	487	broad.mit.edu	37	16	28913312	28913312	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:28913312C>T	ENST00000357084.3	+	16	2496	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	ATP2A1_ENST00000395503.4_Silent_p.I743I|ATP2A1_ENST00000536376.1_Silent_p.I618I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	743					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACCATCGTAGCTGCTG	0.577																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2227-2229)atC>atT		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							135.0	99.0	111.0					16																	28913312		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913312C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2229C>T	16.37:g.28913312C>T						ATP2A1_ENST00000536376.1_Silent_p.I618I|ATP2A1_ENST00000357084.3_Silent_p.I743I	p.I743I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			16	2413	+			743					A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.2229C>T	CCDS10643.1																																																																																				0.577	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		17	53	0	0	0	1	0	17	53				
ELAVL1	1994	broad.mit.edu	37	19	8032618	8032618	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:8032618C>T	ENST00000407627.2	-	5	616	c.487G>A	c.(487-489)Gca>Aca	p.A163T	ELAVL1_ENST00000351593.5_Missense_Mutation_p.A190T|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A163T	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	163	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGGTAATTGCCTCTTCTGCC	0.483																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(487-489)Gca>Aca		ELAV like RNA binding protein 1							148.0	117.0	128.0					19																	8032618		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032618C>T	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.487G>A	19.37:g.8032618C>T	ENSP00000385269:p.Ala163Thr					ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A163T|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A190T	p.A163T	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			5	616	-			163			RRM 2.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.487G>A	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597439	0.96602	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.37584	1.19;1.19	6.03	6.03	0.97812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83404	0.0024	10	0.87932	D	0	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	163	Q15717	ELAV1_HUMAN	T	163;190	ENSP00000385269:A163T;ENSP00000264073:A190T	ENSP00000264073:A190T	A	-	1	0	ELAVL1	7938618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GCA		0.483	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		16	69	0	0	0	1	0	16	69				
ZNF222	7673	broad.mit.edu	37	19	44536389	44536389	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44536389C>T	ENST00000187879.8	+	4	724	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.L228L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	188					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(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAGCTCACGTCTGCAAACTCA	0.433																																						ENST00000187879.8																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(562-564)Ctg>Ttg		zinc finger protein 222							138.0	140.0	139.0					19																	44536389		2203	4300	6503	SO:0001819	synonymous_variant	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536389C>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.562C>T	19.37:g.44536389C>T						ZNF222_ENST00000391960.3_Silent_p.L228L|ZNF223_ENST00000591793.1_Intron	p.L188L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN			4	724	+		Prostate(69;0.0435)	188					G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	c.562C>T	CCDS33045.1																																																																																				0.433	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			37	144	0	0	0	1	0	37	144				
C11orf30	56946	broad.mit.edu	37	11	76255846	76255846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76255846G>A	ENST00000529032.1	+	18	3253	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K	C11orf30_ENST00000524767.1_Missense_Mutation_p.E1100K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E994K|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E987K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1085	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCTTCTTCAGAGAAACAGAC	0.483																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3253-3255)Gag>Aag		chromosome 11 open reading frame 30							57.0	69.0	65.0					11																	76255846		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255846G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3253G>A	11.37:g.76255846G>A	ENSP00000432327:p.Glu1085Lys					C11orf30_ENST00000525919.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1100K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E987K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E994K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E1085K	p.E1085K			Q7Z589	EMSY_HUMAN			18	3253	+			1085			Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3253G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925384	0.73213	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.24	5.24	0.73138	.	0.047989	0.85682	D	0.000000	T	0.62624	0.2443	L	0.27053	0.805	0.54753	D	0.999989	D;D;D;D;D;P;D	0.69078	0.997;0.993;0.993;0.974;0.958;0.956;0.958	D;D;D;D;B;P;B	0.75020	0.985;0.956;0.956;0.953;0.395;0.899;0.395	T	0.54754	-0.8246	9	0.08837	T	0.75	-6.5676	18.834	0.92153	0.0:0.0:1.0:0.0	.	994;1086;1100;439;1086;987;1085	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	K	987;1085;1085;767;1100;994;1086;1086;1085;225	.	ENSP00000334130:E1085K	E	+	1	0	C11orf30	75933494	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.179000	0.89692	2.464000	0.83262	0.467000	0.42956	GAG		0.483	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		7	65	0	0	0	1	0	7	65				
ZNF483	158399	broad.mit.edu	37	9	114296088	114296088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:114296088C>T	ENST00000309235.5	+	4	729	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	ZNF483_ENST00000358151.4_Nonsense_Mutation_p.Q191*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.Q191*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	191	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGAGCCTTTTCAAAAGGAGCT	0.403																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(571-573)Caa>Taa		zinc finger protein 483							96.0	103.0	101.0					9																	114296088		2203	4300	6503	SO:0001587	stop_gained	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296088C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.571C>T	9.37:g.114296088C>T	ENSP00000311679:p.Gln191*					ZNF483_ENST00000358151.4_Nonsense_Mutation_p.Q191*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.Q191*	p.Q191*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			4	729	+			191			KRAB.		Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	ENST00000309235.5	37	c.571C>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320753	0.60634	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	3.91	3.91	0.45181	.	0.000000	0.39407	N	0.001365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6983	13.8213	0.63322	0.0:1.0:0.0:0.0	.	.	.	.	X	191	.	ENSP00000311679:Q191X	Q	+	1	0	ZNF483	113335909	0.922000	0.31269	0.892000	0.35008	0.210000	0.24377	2.779000	0.47734	2.193000	0.70182	0.655000	0.94253	CAA		0.403	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		26	117	0	0	0	1	0	26	117				
BYSL	705	broad.mit.edu	37	6	41897940	41897940	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:41897940G>A	ENST00000230340.4	+	3	877	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	168					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E168*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTCATGTCAGAGGTGTCGGG	0.597																																						ENST00000230340.4																			1	Substitution - Nonsense(1)	p.E168*(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(502-504)Gag>Aag		bystin-like							62.0	64.0	63.0					6																	41897940		2203	4300	6503	SO:0001583	missense	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41897940G>A	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.502G>A	6.37:g.41897940G>A	ENSP00000230340:p.Glu168Lys						p.E168K	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	877	+	Colorectal(47;0.121)		168					Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	ENST00000230340.4	37	c.502G>A	CCDS34450.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248043	0.95305	.	.	ENSG00000112578	ENST00000230340	T	0.43688	0.94	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	M	0.66439	2.03	0.80722	D	1	B	0.26445	0.149	B	0.32393	0.145	T	0.36407	-0.9749	10	0.66056	D	0.02	-23.8635	16.895	0.86098	0.0:0.1283:0.8717:0.0	.	168	Q13895	BYST_HUMAN	K	168	ENSP00000230340:E168K	ENSP00000230340:E168K	E	+	1	0	BYSL	42005918	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.730000	0.84881	1.504000	0.48704	0.549000	0.68633	GAG		0.597	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			6	48	0	0	0	1	0	6	48				
DDX43	55510	broad.mit.edu	37	6	74104733	74104733	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:74104733G>A	ENST00000370336.4	+	1	263	c.105G>A	c.(103-105)ttG>ttA	p.L35L	DDX43_ENST00000539829.1_Silent_p.L35L|snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	35					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGAGGAGTTGAATCGAACAG	0.657																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(103-105)ttG>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							58.0	64.0	62.0					6																	74104733		2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104733G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.105G>A	6.37:g.74104733G>A						DDX43_ENST00000539829.1_Silent_p.L35L|OOEP_ENST00000370363.1_5'UTR	p.L35L	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			1	263	+			35					B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.105G>A	CCDS4977.1																																																																																				0.657	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		29	91	0	0	0	1	0	29	91				
CES3	23491	broad.mit.edu	37	16	67006327	67006327	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:67006327G>C	ENST00000303334.4	+	11	1431	c.1360G>C	c.(1360-1362)Gcc>Ccc	p.A454P	CES3_ENST00000543856.1_Missense_Mutation_p.A93P|CES3_ENST00000394037.1_Missense_Mutation_p.A454P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	454						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GATCAAACCTGCCTGGGTGAA	0.537																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1360-1362)Gcc>Ccc		carboxylesterase 3							206.0	204.0	205.0					16																	67006327		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006327G>C	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1360G>C	16.37:g.67006327G>C	ENSP00000304782:p.Ala454Pro					CES3_ENST00000394037.1_Missense_Mutation_p.A454P|CES3_ENST00000543856.1_Missense_Mutation_p.A93P	p.A454P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1431	+		Ovarian(137;0.0563)	454					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.1360G>C	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130947	0.37630	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.66638	-0.22;-0.22;-0.22	5.13	4.15	0.48705	Carboxylesterase, type B (1);	0.663234	0.12410	N	0.471363	T	0.54224	0.1845	N	0.21373	0.66	0.09310	N	1	B;B	0.23128	0.08;0.002	B;B	0.25291	0.059;0.01	T	0.39292	-0.9621	10	0.23891	T	0.37	.	14.302	0.66359	0.0:0.15:0.8499:0.0	.	93;454	F5H242;Q6UWW8	.;EST3_HUMAN	P	454;454;93	ENSP00000304782:A454P;ENSP00000377602:A454P;ENSP00000445559:A93P	ENSP00000304782:A454P	A	+	1	0	CES3	65563828	0.042000	0.20092	0.006000	0.13384	0.010000	0.07245	1.845000	0.39279	1.125000	0.41998	0.579000	0.79373	GCC		0.537	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		49	213	0	0	0	1	0	49	213				
ADSSL1	122622	broad.mit.edu	37	14	105196289	105196289	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:105196289G>A	ENST00000332972.5	+	1	219	c.60G>A	c.(58-60)acG>acA	p.T20T	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AGAGGCCCACGAACCTGGCCC	0.687																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(58-60)acG>acA		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						36.0	34.0	35.0					14																	105196289		2188	4277	6465	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105196289G>A	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000332972.5:c.60G>A	14.37:g.105196289G>A						ADSSL1_ENST00000330877.2_Intron	p.T20T	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	1	219	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	0						Silent	SNP	ENST00000332972.5	37	c.60G>A	CCDS9991.1																																																																																				0.687	ADSSL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410531.1			3	7	0	0	0	1	0	3	7				
LARP4	113251	broad.mit.edu	37	12	50829270	50829270	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:50829270G>C	ENST00000398473.2	+	5	510		c.e5-1		LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000518561.1_Splice_Site|LARP4_ENST00000518444.1_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4						cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGTTTTTTCAGAGAAAATTTG	0.299																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.e5-1		La ribonucleoprotein domain family, member 4							60.0	50.0	53.0					12																	50829270		1794	4043	5837	SO:0001630	splice_region_variant	113251						nucleotide binding|RNA binding	g.chr12:50829270G>C	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.399-1G>C	12.37:g.50829270G>C						LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000518561.1_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000518444.1_Splice_Site		NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			5	510	+								A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Splice_Site	SNP	ENST00000398473.2	37		CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324423	0.81580	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260;ENST00000517559	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3543	0.94404	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LARP4	49115537	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	9.607000	0.98328	2.746000	0.94184	0.561000	0.74099	.		0.299	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	Intron	10	28	0	0	0	1	0	10	28				
CPT2	1376	broad.mit.edu	37	1	53676109	53676109	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53676109G>C	ENST00000371486.3	+	4	1278	c.763G>C	c.(763-765)Gat>Cat	p.D255H	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	255					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TTATATCTTTGATGTCCTGGA	0.498																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(763-765)Gat>Cat		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						53.0	56.0	55.0					1																	53676109		2203	4300	6503	SO:0001583	missense	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676109G>C	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.763G>C	1.37:g.53676109G>C	ENSP00000360541:p.Asp255His						p.D255H	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1278	+			255					B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	c.763G>C	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032701	0.75504	.	.	ENSG00000157184	ENST00000371486	D	0.89939	-2.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96525	0.9388	10	0.66056	D	0.02	0.2081	19.4198	0.94716	0.0:0.0:1.0:0.0	.	255	P23786	CPT2_HUMAN	H	255	ENSP00000360541:D255H	ENSP00000360541:D255H	D	+	1	0	CPT2	53448697	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.648000	0.83479	2.576000	0.86940	0.650000	0.86243	GAT		0.498	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		15	52	0	0	0	1	0	15	52				
GDAP2	54834	broad.mit.edu	37	1	118454703	118454703	+	Splice_Site	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454703C>G	ENST00000369443.5	-	5	721	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	GDAP2_ENST00000369442.3_Splice_Site_p.E158Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	158	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATTGACTGCTCTCTGCAACAA	0.348																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.e5-1		ganglioside induced differentiation associated protein 2							94.0	87.0	89.0					1																	118454703		2203	4300	6503	SO:0001630	splice_region_variant	54834							g.chr1:118454703C>G	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.471-1G>C	1.37:g.118454703C>G						GDAP2_ENST00000369442.3_Splice_Site_p.E158_splice	p.E158_splice	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	5	721	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	158			Macro.		Q96DZ0	Splice_Site	SNP	ENST00000369443.5	37	c.470_splice	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983722	0.93044	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.29397	1.57;1.57	5.23	5.23	0.72850	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45338	-0.9268	10	0.62326	D	0.03	-21.9803	19.0551	0.93059	0.0:1.0:0.0:0.0	.	158;158	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	Q	158	ENSP00000358451:E158Q;ENSP00000358450:E158Q	ENSP00000358450:E158Q	E	-	1	0	GDAP2	118256226	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.174000	0.77620	2.729000	0.93468	0.650000	0.86243	GAG		0.348	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Missense_Mutation	14	66	0	0	0	1	0	14	66				
DPP10	57628	broad.mit.edu	37	2	116572544	116572544	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:116572544G>C	ENST00000410059.1	+	20	2356	c.1876G>C	c.(1876-1878)Gac>Cac	p.D626H	DPP10_ENST00000409163.1_Missense_Mutation_p.D576H|DPP10_ENST00000310323.8_Missense_Mutation_p.D619H|DPP10_ENST00000393147.2_Missense_Mutation_p.D630H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	626						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAAGTAAAGGACCAAATAAC	0.363																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1876-1878)Gac>Cac		dipeptidyl-peptidase 10 (non-functional)							102.0	107.0	106.0					2																	116572544		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572544G>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1876G>C	2.37:g.116572544G>C	ENSP00000386565:p.Asp626His					DPP10_ENST00000393147.2_Missense_Mutation_p.D630H|DPP10_ENST00000310323.8_Missense_Mutation_p.D619H|DPP10_ENST00000409163.1_Missense_Mutation_p.D576H	p.D626H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			20	2356	+			626					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1876G>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687455	0.68157	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.16	4.28	0.50868	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84575	0.5502	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.88944	0.3382	10	0.87932	D	0	-27.1665	12.9402	0.58337	0.0775:0.0:0.9225:0.0	.	619;630;622;626	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	H	626;576;630;619;576	ENSP00000386565:D626H;ENSP00000387038:D576H;ENSP00000376855:D630H;ENSP00000309066:D619H	ENSP00000309066:D619H	D	+	1	0	DPP10	116289014	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.017000	0.93651	1.431000	0.47355	0.655000	0.94253	GAC		0.363	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		22	77	0	0	0	1	0	22	77				
PAX3	5077	broad.mit.edu	37	2	223158888	223158888	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:223158888C>T	ENST00000350526.4	-	4	720	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	PAX3_ENST00000409828.3_Missense_Mutation_p.R195Q|PAX3_ENST00000409551.3_Missense_Mutation_p.R194Q|PAX3_ENST00000392070.2_Missense_Mutation_p.R195Q|PAX3_ENST00000344493.4_Missense_Mutation_p.R195Q|PAX3_ENST00000258387.5_Missense_Mutation_p.R195Q|PAX3_ENST00000336840.6_Missense_Mutation_p.R195Q|PAX3_ENST00000392069.2_Missense_Mutation_p.R195Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCTTACCTCGCTCGCTCAG	0.612			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(583-585)cGa>cAa		paired box 3							234.0	171.0	192.0					2																	223158888		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223158888C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.584G>A	2.37:g.223158888C>T	ENSP00000343052:p.Arg195Gln					PAX3_ENST00000409551.3_Missense_Mutation_p.R194Q|PAX3_ENST00000344493.4_Missense_Mutation_p.R195Q|PAX3_ENST00000336840.6_Missense_Mutation_p.R195Q|PAX3_ENST00000258387.5_Missense_Mutation_p.R195Q|PAX3_ENST00000409828.3_Missense_Mutation_p.R195Q|PAX3_ENST00000392069.2_Missense_Mutation_p.R195Q|PAX3_ENST00000392070.2_Missense_Mutation_p.R195Q	p.R195Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	720	-		Renal(207;0.0183)	195					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.584G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448383	0.84101	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99474	-3.38;-3.42;-3.37;-3.36;-3.41;-3.37;-5.96;-5.97	4.61	4.61	0.57282	.	0.304797	0.22589	N	0.058112	D	0.99474	0.9813	M	0.81497	2.545	0.58432	D	0.999991	P;P;D;P;P;P;P	0.71674	0.801;0.94;0.998;0.76;0.89;0.928;0.907	B;B;D;B;B;B;B	0.75484	0.148;0.3;0.986;0.151;0.24;0.369;0.29	D	0.98794	1.0737	10	0.48119	T	0.1	.	17.0687	0.86567	0.0:1.0:0.0:0.0	.	195;195;195;194;195;195;195	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	Q	195;195;195;195;195;194;195;195	ENSP00000375921:R195Q;ENSP00000342092:R195Q;ENSP00000343052:R195Q;ENSP00000375922:R195Q;ENSP00000338767:R195Q;ENSP00000386750:R194Q;ENSP00000386817:R195Q;ENSP00000258387:R195Q	ENSP00000258387:R195Q	R	-	2	0	PAX3	222867132	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.813000	0.55636	2.094000	0.63399	0.555000	0.69702	CGA		0.612	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			21	87	0	0	0	1	0	21	87				
GIMAP1	170575	broad.mit.edu	37	7	150416150	150416150	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:150416150G>C	ENST00000307194.5	+	2	155	c.15G>C	c.(13-15)aaG>aaC	p.K5N		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	5					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGAAGGAAGATGGCGACAG	0.418																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(13-15)aaG>aaC		GTPase, IMAP family member 1							156.0	136.0	143.0					7																	150416150		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150416150G>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.15G>C	7.37:g.150416150G>C	ENSP00000302833:p.Lys5Asn						p.K5N	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	155	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.15G>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743060	0.30865	.	.	ENSG00000213203	ENST00000307194	T	0.08102	3.13	4.42	2.58	0.30949	.	2.617730	0.03068	U	0.156705	T	0.08891	0.0220	N	0.22421	0.69	0.09310	N	0.999995	P	0.50272	0.933	P	0.44860	0.462	T	0.24764	-1.0151	10	0.52906	T	0.07	.	6.4843	0.22079	0.2188:0.0:0.7812:0.0	.	5	Q8WWP7	GIMA1_HUMAN	N	5	ENSP00000302833:K5N	ENSP00000302833:K5N	K	+	3	2	GIMAP1	150047083	0.097000	0.21791	0.501000	0.27601	0.124000	0.20399	0.682000	0.25335	1.220000	0.43490	0.655000	0.94253	AAG		0.418	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		25	52	0	0	0	1	0	25	52				
FAM47A	158724	broad.mit.edu	37	X	34148917	34148917	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:34148917C>T	ENST00000346193.3	-	1	1530	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	493										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTGCGAGTGGAGAC	0.647																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1477-1479)tcG>tcA		family with sequence similarity 47, member A							46.0	52.0	50.0					X																	34148917		2195	4290	6485	SO:0001819	synonymous_variant	158724							g.chrX:34148917C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1479G>A	X.37:g.34148917C>T							p.S493S	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1530	-			493					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1479G>A	CCDS43926.1																																																																																				0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		22	110	0	0	0	1	0	22	110				
BMS1	9790	broad.mit.edu	37	10	43318668	43318668	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:43318668G>A	ENST00000374518.5	+	20	3298	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1079					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCGAGCTCCAGAAGGAGCTTT	0.488																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3235-3237)Gaa>Aaa		BMS1 ribosome biogenesis factor							66.0	69.0	68.0					10																	43318668		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318668G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3235G>A	10.37:g.43318668G>A	ENSP00000363642:p.Glu1079Lys						p.E1079K	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3298	+			1079					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3235G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225835	0.58668	.	.	ENSG00000165733	ENST00000374518	T	0.17213	2.29	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.311416	0.31167	N	0.008139	T	0.23688	0.0573	M	0.71206	2.165	0.33536	D	0.594287	P	0.34462	0.454	B	0.34138	0.176	T	0.35574	-0.9783	10	0.34782	T	0.22	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1079	Q14692	BMS1_HUMAN	K	1079	ENSP00000363642:E1079K	ENSP00000363642:E1079K	E	+	1	0	BMS1	42638674	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	3.116000	0.50399	2.250000	0.74265	0.454000	0.30748	GAA		0.488	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		22	65	0	0	0	1	0	22	65				
AMOT	154796	broad.mit.edu	37	X	112058609	112058609	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:112058609C>G	ENST00000524145.1	-	3	1443	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	AMOT_ENST00000371959.3_Missense_Mutation_p.E457Q|AMOT_ENST00000371958.1_Missense_Mutation_p.E225Q|AMOT_ENST00000371962.1_Missense_Mutation_p.E225Q|AMOT_ENST00000304758.1_Missense_Mutation_p.E48Q			Q4VCS5	AMOT_HUMAN	angiomotin	457					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCCACCTTCTCATAGCATCCT	0.463																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1369-1371)Gag>Cag		angiomotin							256.0	234.0	241.0					X																	112058609		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058609C>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1369G>C	X.37:g.112058609C>G	ENSP00000429013:p.Glu457Gln					AMOT_ENST00000524145.1_Missense_Mutation_p.E457Q|AMOT_ENST00000371962.1_Missense_Mutation_p.E225Q|AMOT_ENST00000371958.1_Missense_Mutation_p.E225Q|AMOT_ENST00000304758.1_Missense_Mutation_p.E48Q	p.E457Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1368	-			457					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1369G>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405338	0.62288	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.45	4.58	0.56647	.	0.227883	0.44483	D	0.000446	T	0.25269	0.0614	L	0.54323	1.7	0.52099	D	0.999945	D	0.59767	0.986	P	0.50970	0.655	T	0.01232	-1.1411	10	0.41790	T	0.15	-18.8418	12.1732	0.54169	0.0:0.9171:0.0:0.0829	.	457	Q4VCS5	AMOT_HUMAN	Q	48;457;225;457;225	ENSP00000305557:E48Q;ENSP00000361027:E457Q;ENSP00000361030:E225Q;ENSP00000429013:E457Q;ENSP00000361026:E225Q	ENSP00000305557:E48Q	E	-	1	0	AMOT	111945265	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	5.884000	0.69729	1.271000	0.44313	0.600000	0.82982	GAG		0.463	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		68	261	0	0	0	1	0	68	261				
FAM71C	196472	broad.mit.edu	37	12	100042510	100042510	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:100042510C>T	ENST00000324341.1	+	1	980	c.558C>T	c.(556-558)atC>atT	p.I186I	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	186										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCAGGGCTATCCTAGCTGGGA	0.517																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(556-558)atC>atT		family with sequence similarity 71, member C							52.0	40.0	44.0					12																	100042510		2203	4300	6503	SO:0001819	synonymous_variant	196472							g.chr12:100042510C>T		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.558C>T	12.37:g.100042510C>T						ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	p.I186I	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	980	+			186					B2R6Y6	Silent	SNP	ENST00000324341.1	37	c.558C>T	CCDS9072.1																																																																																				0.517	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		8	30	0	0	0	1	0	8	30				
HUWE1	10075	broad.mit.edu	37	X	53575991	53575991	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:53575991C>T	ENST00000342160.3	-	66	10421	c.9964G>A	c.(9964-9966)Gtc>Atc	p.V3322I	HUWE1_ENST00000262854.6_Missense_Mutation_p.V3322I|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3322					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGATGTGGACGGTGGAGCCA	0.527																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(9964-9966)Gtc>Atc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							73.0	53.0	60.0					X																	53575991		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575991C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9964G>A	X.37:g.53575991C>T	ENSP00000340648:p.Val3322Ile					HUWE1_ENST00000262854.6_Missense_Mutation_p.V3322I	p.V3322I			Q7Z6Z7	HUWE1_HUMAN			66	10421	-			3322					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9964G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.420598|3.420598	0.62622|0.62622	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.49432	.|0.78;0.78	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.240515	.|0.33854	.|N	.|0.004493	T|T	0.51805|0.51805	0.1696|0.1696	N|N	0.21324|0.21324	0.655|0.655	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.71674	.|0.968;0.998	.|P;D	.|0.73708	.|0.854;0.981	T|T	0.38499|0.38499	-0.9658|-0.9658	5|10	.|0.06494	.|T	.|0.89	.|.	17.8502|17.8502	0.88744|0.88744	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3322;3306	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	H|I	2355;159|3322	.|ENSP00000340648:V3322I;ENSP00000262854:V3322I	.|ENSP00000262854:V3322I	R|V	-|-	2|1	0|0	HUWE1|HUWE1	53592716|53592716	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	6.866000|6.866000	0.75506|0.75506	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	CGT|GTC		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	29	0	0	0	1	0	7	29				
ADAMTS7	11173	broad.mit.edu	37	15	79059199	79059199	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:79059199C>T	ENST00000388820.4	-	19	3264	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1018					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGTCAGCCTCGTTGAAGA	0.662																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3052-3054)gaG>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							17.0	16.0	16.0					15																	79059199		2183	4252	6435	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059199C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3054G>A	15.37:g.79059199C>T						ADAMTS7_ENST00000566303.1_5'UTR	p.E1018E	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3264	-			1018					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3054G>A	CCDS32303.1																																																																																				0.662	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	15	0	0	0	1	0	4	15				
HLA-A	3105	broad.mit.edu	37	6	29910696	29910696	+	Missense_Mutation	SNP	A	A	G	rs75991672		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29910696A>G	ENST00000396634.1	+	4	577	c.236A>G	c.(235-237)gAg>gGg	p.E79G	HLA-A_ENST00000376802.2_Missense_Mutation_p.E79G|HLA-A_ENST00000376806.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376809.5_Missense_Mutation_p.E79G			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	79	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATAGAGCAGGAGGGGCCGGAG	0.652									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(235-237)gAg>gGg		major histocompatibility complex, class I, A							58.0	61.0	60.0					6																	29910696		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910696A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.236A>G	6.37:g.29910696A>G	ENSP00000379873:p.Glu79Gly	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376806.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376802.2_Missense_Mutation_p.E79G	p.E79G			P30443	1A01_HUMAN			4	577	+			79			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.236A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.582525	0.46006	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.01005	5.45;5.45;5.45;5.45	3.64	-2.15	0.07102	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.773311	0.09890	U	0.742534	T	0.03871	0.0109	H	0.99525	4.61	0.09310	N	1	D;D;D;D;D	0.89917	0.971;0.999;1.0;0.999;1.0	P;D;D;D;D	0.91635	0.85;0.999;0.999;0.999;0.999	T	0.11227	-1.0596	10	0.87932	D	0	.	2.309	0.04182	0.3803:0.0:0.2373:0.3825	.	79;79;79;79;79	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	G	79	ENSP00000379873:E79G;ENSP00000366002:E79G;ENSP00000366005:E79G;ENSP00000365998:E79G	ENSP00000348012:E79G	E	+	2	0	HLA-A	30018675	0.000000	0.05858	0.013000	0.15412	0.202000	0.24057	-0.989000	0.03736	-0.197000	0.10350	0.391000	0.25812	GAG		0.652	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		14	24	0	0	0	1	0	14	24				
PAN2	9924	broad.mit.edu	37	12	56726847	56726847	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56726847G>A	ENST00000425394.2	-	2	408	c.32C>T	c.(31-33)gCa>gTa	p.A11V	PAN2_ENST00000257931.5_Missense_Mutation_p.A11V|PAN2_ENST00000440411.3_Missense_Mutation_p.A11V|PAN2_ENST00000548043.1_Missense_Mutation_p.A11V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GGCATATTCTGCCAGTCCAGG	0.557																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(31-33)gCa>gTa		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							90.0	79.0	83.0					12																	56726847		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56726847G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.32C>T	12.37:g.56726847G>A	ENSP00000401721:p.Ala11Val					PAN2_ENST00000257931.5_Missense_Mutation_p.A11V|PAN2_ENST00000548043.1_Missense_Mutation_p.A11V|PAN2_ENST00000440411.3_Missense_Mutation_p.A11V	p.A11V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			2	408	-			11						Missense_Mutation	SNP	ENST00000425394.2	37	c.32C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219524	0.79464	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	4.72	4.72	0.59763	.	0.057202	0.64402	D	0.000001	T	0.07728	0.0194	L	0.32530	0.975	0.36428	D	0.864721	P;P;P	0.44816	0.844;0.844;0.759	B;B;B	0.41088	0.347;0.347;0.188	T	0.23833	-1.0177	10	0.54805	T	0.06	-8.0679	16.9848	0.86337	0.0:0.0:1.0:0.0	.	11;11;11	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	11	ENSP00000401721:A11V;ENSP00000388231:A11V;ENSP00000257931:A11V;ENSP00000449861:A11V	ENSP00000257931:A11V	A	-	2	0	PAN2	55013114	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.355000	0.66046	2.640000	0.89533	0.585000	0.79938	GCA		0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		14	36	0	0	0	1	0	14	36				
HSPG2	3339	broad.mit.edu	37	1	22165988	22165988	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:22165988C>A	ENST00000374695.3	-	73	9844	c.9765G>T	c.(9763-9765)caG>caT	p.Q3255H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3255	Ig-like C2-type 18.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGCCGGTGCTGCCAGGGCA	0.632																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9763-9765)caG>caT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						55.0	52.0	53.0					1																	22165988		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22165988C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9765G>T	1.37:g.22165988C>A	ENSP00000363827:p.Gln3255His						p.Q3255H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	73	9844	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3255			Ig-like C2-type 18.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9765G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724421	0.48728	.	.	ENSG00000142798	ENST00000374695	T	0.27890	1.64	5.5	4.58	0.56647	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.213968	0.23567	N	0.046799	T	0.33294	0.0858	N	0.10809	0.05	0.42239	D	0.991928	D;D	0.63880	0.967;0.993	D;P	0.65323	0.934;0.878	T	0.26780	-1.0093	10	0.42905	T	0.14	.	13.4208	0.60996	0.0:0.9224:0.0:0.0776	.	1195;3255	Q59EG0;P98160	.;PGBM_HUMAN	H	3255	ENSP00000363827:Q3255H	ENSP00000363827:Q3255H	Q	-	3	2	HSPG2	22038575	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.702000	0.37836	1.304000	0.44892	0.563000	0.77884	CAG		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	9	1	0	6.94344e-10	1	7.33228e-10	16	9				
BCORL1	63035	broad.mit.edu	37	X	129150170	129150170	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:129150170G>A	ENST00000218147.7	+	4	3619	c.3422G>A	c.(3421-3423)cGg>cAg	p.R1141Q	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1141Q|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1141Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1141Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1141					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGTGGTCCGGAGTTCCCAC	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3421-3423)cGg>cAg		BCL6 corepressor-like 1							21.0	17.0	19.0					X																	129150170		2202	4300	6502	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129150170G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3422G>A	X.37:g.129150170G>A	ENSP00000218147:p.Arg1141Gln					BCORL1_ENST00000359304.2_Missense_Mutation_p.R1141Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1141Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1141Q	p.R1141Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	3466	+			1141					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3422G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675220	0.29783	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.41400	1.03;1.37;1.0;1.03;1.45	5.45	5.45	0.79879	.	0.249082	0.21197	N	0.078529	T	0.20941	0.0504	N	0.19112	0.55	0.26162	N	0.979981	P;P	0.47545	0.897;0.512	B;B	0.31290	0.127;0.033	T	0.13098	-1.0522	10	0.26408	T	0.33	-15.2739	9.4957	0.38986	0.1557:0.0:0.8443:0.0	.	1141;1141	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	Q	1141;1141;1141;1141;741	ENSP00000218147:R1141Q;ENSP00000307541:R1141Q;ENSP00000352253:R1141Q;ENSP00000437775:R1141Q;ENSP00000399483:R741Q	ENSP00000218147:R1141Q	R	+	2	0	BCORL1	128977851	1.000000	0.71417	0.918000	0.36340	0.494000	0.33585	1.467000	0.35321	2.268000	0.75426	0.600000	0.82982	CGG		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		5	12	0	0	0	1	0	5	12				
TTF2	8458	broad.mit.edu	37	1	117631430	117631430	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:117631430C>G	ENST00000369466.4	+	13	2212	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	723	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGGCACCTCAACACCTTTG	0.463																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2167-2169)tCa>tGa		transcription termination factor, RNA polymerase II							117.0	105.0	109.0					1																	117631430		2203	4300	6503	SO:0001587	stop_gained	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631430C>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2168C>G	1.37:g.117631430C>G	ENSP00000358478:p.Ser723*						p.S723*	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2212	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	723			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	ENST00000369466.4	37	c.2168C>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	38	6.864539	0.97897	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.8	3.84	0.44239	.	0.854136	0.09566	N	0.784869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.4127	8.5452	0.33417	0.1548:0.7643:0.0:0.0809	.	.	.	.	X	723	.	ENSP00000358478:S723X	S	+	2	0	TTF2	117432953	0.015000	0.18098	0.152000	0.22495	0.350000	0.29205	2.420000	0.44679	2.740000	0.93945	0.650000	0.86243	TCA		0.463	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			22	80	0	0	0	1	0	22	80				
DGKA	1606	broad.mit.edu	37	12	56346614	56346614	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56346614G>A	ENST00000331886.5	+	21	2294	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.D614N|DGKA_ENST00000551156.1_Missense_Mutation_p.D614N	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	614					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCTCTGGGGTGATACCAGGAG	0.527																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(1840-1842)Gat>Aat		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						149.0	135.0	140.0					12																	56346614		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346614G>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1840G>A	12.37:g.56346614G>A	ENSP00000328405:p.Asp614Asn					DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.D614N|DGKA_ENST00000394147.1_Missense_Mutation_p.D614N	p.D614N	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			21	2294	+			614					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.1840G>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690440	0.29962	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.45276	0.92;0.9;0.92;0.92	4.67	4.67	0.58626	Diacylglycerol kinase, accessory domain (2);	0.054899	0.64402	D	0.000001	T	0.26304	0.0642	N	0.03194	-0.395	0.52099	D	0.999949	B;B	0.21071	0.004;0.051	B;B	0.29077	0.022;0.098	T	0.16188	-1.0411	10	0.52906	T	0.07	.	16.7116	0.85387	0.0:0.0:1.0:0.0	.	533;614	G3V4E1;P23743	.;DGKA_HUMAN	N	614;533;614;614	ENSP00000328405:D614N;ENSP00000451743:D533N;ENSP00000377703:D614N;ENSP00000450359:D614N	ENSP00000328405:D614N	D	+	1	0	DGKA	54632881	1.000000	0.71417	0.997000	0.53966	0.358000	0.29455	9.253000	0.95501	2.315000	0.78130	0.313000	0.20887	GAT		0.527	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			15	164	0	0	0	1	0	15	164				
ACTA2	59	broad.mit.edu	37	10	90708681	90708681	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:90708681C>T	ENST00000458208.1	-	2	481	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.E3K|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	3					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCCTCTTCTTCACACATAGCT	0.532																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17						c.(7-9)Gaa>Aaa		actin, alpha 2, smooth muscle, aorta							84.0	74.0	77.0					10																	90708681		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90708681C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.7G>A	10.37:g.90708681C>T	ENSP00000402373:p.Glu3Lys					STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.E3K|ACTA2_ENST00000480297.1_5'UTR	p.E3K	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	2	481	-		Colorectal(252;0.0161)	3					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.7G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451672	0.63290	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.97114	-3.57;-3.57;-4.25;-4.25	5.51	5.51	0.81932	.	0.066701	0.64402	D	0.000020	D	0.95392	0.8504	L	0.46157	1.445	0.58432	D	0.999998	B;B	0.31026	0.304;0.006	B;B	0.30401	0.115;0.007	D	0.94486	0.7697	10	0.87932	D	0	.	17.9595	0.89081	0.0:1.0:0.0:0.0	.	3;3	B7Z6I1;P62736	.;ACTA_HUMAN	K	3	ENSP00000224784:E3K;ENSP00000402373:E3K;ENSP00000396730:E3K;ENSP00000398239:E3K	ENSP00000224784:E3K	E	-	1	0	ACTA2	90698661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	GAA		0.532	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		15	61	0	0	0	1	0	15	61				
PIAS2	9063	broad.mit.edu	37	18	44407983	44407983	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:44407983C>G	ENST00000585916.1	-	11	1446	c.1447G>C	c.(1447-1449)Gac>Cac	p.D483H	PIAS2_ENST00000324794.7_Missense_Mutation_p.D483H|PIAS2_ENST00000545673.1_Missense_Mutation_p.D193H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	483					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGAGGGTCTTCCTCTTCG	0.408																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1447-1449)Gac>Cac		protein inhibitor of activated STAT, 2							154.0	142.0	146.0					18																	44407983		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44407983C>G	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1447G>C	18.37:g.44407983C>G	ENSP00000465676:p.Asp483His					PIAS2_ENST00000545673.1_Missense_Mutation_p.D193H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D483H	p.D483H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			11	1446	-			483					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.1447G>C	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577945	0.86645	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.49139	0.79;1.36	5.49	5.49	0.81192	.	0.342394	0.32901	N	0.005511	T	0.56202	0.1969	L	0.34521	1.04	0.80722	D	1	D;P;D;P	0.55605	0.96;0.905;0.972;0.953	P;P;P;P	0.59948	0.77;0.467;0.866;0.738	T	0.53690	-0.8403	10	0.46703	T	0.11	-0.4415	17.9246	0.88979	0.0:1.0:0.0:0.0	.	193;483;483;483	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	483;483;193;483	ENSP00000443238:D193H;ENSP00000317163:D483H	ENSP00000262161:D483H	D	-	1	0	PIAS2	42661981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.102000	0.50291	2.739000	0.93911	0.655000	0.94253	GAC		0.408	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		17	110	0	0	0	1	0	17	110				
PSG11	5680	broad.mit.edu	37	19	43523106	43523106	+	Silent	SNP	G	G	A	rs149472706	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:43523106G>A	ENST00000401740.1	-	3	628	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Silent_p.D175D|PSG11_ENST00000403486.1_Silent_p.D53D|PSG11_ENST00000306322.7_Silent_p.D53D			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGTAGCTTGCGTCCGGAGTCT	0.522													.|||	2	0.000399361	0.0	0.0	5008	,	,		18380	0.0		0.0	False		,,,				2504	0.002					ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(523-525)gaC>gaT		pregnancy specific beta-1-glycoprotein 11		G	,,	0,4400		0,0,2200	255.0	259.0	258.0		159,525,159	0.6	0.0	19	dbSNP_134	258	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	,,	53/214,175/336,53/214	43523106	2,12992	2200	4297	6497	SO:0001819	synonymous_variant	5680				female pregnancy	extracellular region		g.chr19:43523106G>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.525C>T	19.37:g.43523106G>A						PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Silent_p.D175D|PSG11_ENST00000403486.1_Silent_p.D53D|PSG11_ENST00000306322.7_Silent_p.D53D	p.D175D			Q9UQ72	PSG11_HUMAN			3	628	-		Prostate(69;0.00682)	175			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	c.525C>T	CCDS12614.2																																																																																				0.522	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		6	412	0	0	0	1	0	6	412				
GHR	2690	broad.mit.edu	37	5	42695050	42695050	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:42695050G>C	ENST00000230882.4	+	5	488	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	GHR_ENST00000357703.3_Missense_Mutation_p.E78Q|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	100					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	agaatggaAAGAATGCCCTGA	0.358																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(298-300)Gaa>Caa		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						131.0	126.0	128.0					5																	42695050		2202	4300	6502	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42695050G>C		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.298G>C	5.37:g.42695050G>C	ENSP00000230882:p.Glu100Gln					GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E78Q	p.E100Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			5	488	+		Myeloproliferative disorder(839;0.00878)	100					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.298G>C	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636905	0.87760	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	T;T	0.64803	-0.12;-0.12	5.14	5.14	0.70334	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.047221	0.85682	D	0.000000	D	0.82976	0.5154	M	0.88775	2.98	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.86382	0.1730	10	0.87932	D	0	-17.801	18.9661	0.92697	0.0:0.0:1.0:0.0	.	100	P10912	GHR_HUMAN	Q	100;78;100	ENSP00000230882:E100Q;ENSP00000350335:E78Q	ENSP00000230882:E100Q	E	+	1	0	GHR	42730807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.185000	0.89704	2.545000	0.85829	0.650000	0.86243	GAA		0.358	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		22	39	0	0	0	1	0	22	39				
TRHDE	29953	broad.mit.edu	37	12	72956692	72956692	+	Silent	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:72956692C>A	ENST00000261180.4	+	9	1875	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	593					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTGGACACTCCAGATGGGTT	0.313																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1777-1779)ctC>ctA		thyrotropin-releasing hormone degrading enzyme							88.0	92.0	91.0					12																	72956692		2203	4294	6497	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956692C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1779C>A	12.37:g.72956692C>A						TRHDE_ENST00000549138.1_3'UTR	p.L593L	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			9	1875	+			593					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.1779C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	9.163	1.019186	0.19355	.	.	ENSG00000072657	ENST00000547300	.	.	.	6.17	2.96	0.34315	.	.	.	.	.	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	.	5.8353	0.18602	0.221:0.5411:0.1723:0.0656	.	.	.	.	T	181	.	.	P	+	1	0	TRHDE	71242959	0.994000	0.37717	0.999000	0.59377	0.997000	0.91878	0.196000	0.17176	0.260000	0.21731	0.655000	0.94253	CCA		0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		57	193	1	0	2.73361e-28	1	3.03224e-28	57	193				
PCDHA8	56140	broad.mit.edu	37	5	140222520	140222520	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140222520C>T	ENST00000531613.1	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.R538R|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.672																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1612-1614)cgC>cgT									53.0	62.0	59.0					5																	140222520		2194	4266	6460	SO:0001819	synonymous_variant	56140							g.chr5:140222520C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1614C>T	5.37:g.140222520C>T						PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.R538R	p.R538R	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1614	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1614C>T	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		42	170	0	0	0	1	0	42	170				
AK5	26289	broad.mit.edu	37	1	77763534	77763534	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:77763534G>C	ENST00000354567.2	+	5	864	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.E175Q	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	201	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AACAATTACAGAGATAAAGCA	0.343																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(523-525)Gag>Cag		adenylate kinase 5							85.0	87.0	86.0					1																	77763534		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763534G>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.601G>C	1.37:g.77763534G>C	ENSP00000346577:p.Glu201Gln					AK5_ENST00000354567.2_Missense_Mutation_p.E201Q|AK5_ENST00000317704.4_3'UTR	p.E175Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			5	1549	+			201					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.523G>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984481	0.74474	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84442	-1.0;-1.0;-1.85	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.88157	0.6361	L	0.47716	1.5	0.80722	D	1	D;D	0.61080	0.961;0.989	P;P	0.62560	0.84;0.904	D	0.88474	0.3064	10	0.72032	D	0.01	-10.4267	19.7874	0.96444	0.0:0.0:1.0:0.0	.	201;177	Q9Y6K8;Q8N291	KAD5_HUMAN;.	Q	201;175;175	ENSP00000346577:E201Q;ENSP00000341430:E175Q;ENSP00000434409:E175Q	ENSP00000341430:E175Q	E	+	1	0	AK5	77536122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.303000	0.78871	2.770000	0.95276	0.650000	0.86243	GAG		0.343	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		14	55	0	0	0	1	0	14	55				
PGAM4	441531	broad.mit.edu	37	X	77225022	77225022	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:77225022C>T	ENST00000458128.1	-	1	113	c.114G>A	c.(112-114)gcG>gcA	p.A38A	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	38					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CGCCGCGCTTCGCCTCCTCGT	0.627																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(112-114)gcG>gcA		phosphoglycerate mutase family member 4							57.0	59.0	58.0					X																	77225022		2203	4288	6491	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77225022C>T	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.114G>A	X.37:g.77225022C>T						ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	p.A38A	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	113	-			38					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.114G>A	CCDS35338.1																																																																																				0.627	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		61	171	0	0	0	1	0	61	171				
KIAA1377	57562	broad.mit.edu	37	11	101829016	101829016	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:101829016G>T	ENST00000263468.8	+	5	894	c.624G>T	c.(622-624)ttG>ttT	p.L208F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L9F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	208										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGGCAACCTTGGCTACTAGCA	0.358																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(622-624)ttG>ttT		KIAA1377							147.0	157.0	154.0					11																	101829016		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101829016G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.624G>T	11.37:g.101829016G>T	ENSP00000263468:p.Leu208Phe					KIAA1377_ENST00000537689.1_Missense_Mutation_p.L9F	p.L208F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	894	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	208					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.624G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734499	0.30774	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.13196	2.61;2.61	5.68	-0.808	0.10868	.	0.291429	0.24258	N	0.040116	T	0.26738	0.0654	L	0.61036	1.89	0.09310	N	1	D	0.69078	0.997	D	0.65987	0.94	T	0.08911	-1.0699	10	0.34782	T	0.22	-0.2254	11.6284	0.51160	0.331:0.0:0.669:0.0	.	208	Q9P2H0	K1377_HUMAN	F	208;9	ENSP00000263468:L208F;ENSP00000443184:L9F	ENSP00000263468:L208F	L	+	3	2	KIAA1377	101334226	0.300000	0.24435	0.050000	0.19076	0.183000	0.23260	0.741000	0.26202	-0.148000	0.11234	-0.145000	0.13849	TTG		0.358	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		35	179	1	0	2.38352e-08	1	2.49702e-08	35	179				
ASAP3	55616	broad.mit.edu	37	1	23782676	23782676	+	Silent	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:23782676T>C	ENST00000336689.3	-	2	185	c.141A>G	c.(139-141)ggA>ggG	p.G47G	ASAP3_ENST00000437606.2_Silent_p.G47G|ASAP3_ENST00000449467.2_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	47					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGGCTTGGTCTCCTTCCAAGA	0.552																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(139-141)ggA>ggG		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							77.0	76.0	76.0					1																	23782676		2203	4299	6502	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23782676T>C	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.141A>G	1.37:g.23782676T>C						ASAP3_ENST00000437606.2_Silent_p.G47G	p.G47G	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			2	185	-			47					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.141A>G	CCDS235.1																																																																																				0.552	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		15	15	0	0	0	1	0	15	15				
PTCHD3	374308	broad.mit.edu	37	10	27702334	27702334	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:27702334G>A	ENST00000438700.3	-	1	963	c.846C>T	c.(844-846)agC>agT	p.S282S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	282					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGAAGGAGATGCTGCTCAGGT	0.617																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(844-846)agC>agT		patched domain containing 3							63.0	69.0	67.0					10																	27702334		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702334G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.846C>T	10.37:g.27702334G>A							p.S282S	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	963	-			282					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.846C>T	CCDS31173.1																																																																																				0.617	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		13	52	0	0	0	1	0	13	52				
SLC38A9	153129	broad.mit.edu	37	5	54960618	54960618	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:54960618C>T	ENST00000396865.2	-	8	1191	c.600G>A	c.(598-600)tcG>tcA	p.S200S	SLC38A9_ENST00000512595.1_Silent_p.S173S|SLC38A9_ENST00000416547.2_Silent_p.S76S|SLC38A9_ENST00000318672.3_Silent_p.S200S|SLC38A9_ENST00000515629.1_Silent_p.S137S|SLC38A9_ENST00000539768.1_Silent_p.S200S	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAAGGAGACTCGACCACTGCC	0.363																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(598-600)tcG>tcA		solute carrier family 38, member 9							51.0	49.0	49.0					5																	54960618		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54960618C>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.600G>A	5.37:g.54960618C>T						SLC38A9_ENST00000515629.1_Silent_p.S137S|SLC38A9_ENST00000416547.2_Silent_p.S76S|SLC38A9_ENST00000512595.1_Silent_p.S173S|SLC38A9_ENST00000396865.2_Silent_p.S200S|SLC38A9_ENST00000318672.3_Silent_p.S200S	p.S200S			Q8NBW4	S38A9_HUMAN			6	599	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	200					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.600G>A	CCDS3968.1																																																																																				0.363	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		4	110	0	0	0	1	0	4	110				
TTN	7273	broad.mit.edu	37	2	179476105	179476105	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179476105G>T	ENST00000591111.1	-	219	46152	c.45928C>A	c.(45928-45930)Cca>Aca	p.P15310T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8011T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P14383T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7886T|TTN_ENST00000342175.6_Missense_Mutation_p.P8078T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16951T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15310	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAGTCTGGGTCTTTGGCA	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50851-50853)Cca>Aca		titin							67.0	64.0	65.0					2																	179476105		1976	4161	6137	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476105G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45928C>A	2.37:g.179476105G>T	ENSP00000465570:p.Pro15310Thr					TTN_ENST00000591111.1_Missense_Mutation_p.P15310T|TTN_ENST00000342992.6_Missense_Mutation_p.P14383T|TTN_ENST00000342175.6_Missense_Mutation_p.P8078T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8011T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7886T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P16951T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	51075	-			15310			Fibronectin type-III 23.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50851C>A		.	.	.	.	.	.	.	.	.	.	G	11.28	1.590939	0.28357	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.13;-0.11;-0.16	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71871	0.3391	M	0.73430	2.235	0.58432	D	0.999999	P;P;P;P	0.48407	0.91;0.91;0.91;0.91	B;B;B;B	0.42462	0.388;0.388;0.388;0.388	T	0.76621	-0.2892	9	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	7886;8011;8078;15310	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14383;7886;8078;8011;7886	ENSP00000343764:P14383T;ENSP00000434586:P7886T;ENSP00000340554:P8078T;ENSP00000352154:P8011T	ENSP00000340554:P8078T	P	-	1	0	TTN	179184350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.580000	0.53907	2.824000	0.97209	0.655000	0.94253	CCA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	49	1	0	0.014758	1	0.014758	4	49				
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:117859132G>C	ENST00000227752.3	+	2	223	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	35					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.542																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(103-105)Gaa>Caa		interleukin 10 receptor, alpha							126.0	118.0	120.0					11																	117859132		2201	4296	6497	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117859132G>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.103G>C	11.37:g.117859132G>C	ENSP00000227752:p.Glu35Gln					IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q|IL10RA_ENST00000533700.1_3'UTR	p.E35Q	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	2	223	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	35					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.103G>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755137	0.69648	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	T;T	0.72282	-0.64;-0.64	5.13	1.75	0.24633	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.761384	0.12911	N	0.428939	T	0.62085	0.2399	N	0.21097	0.63	0.80722	D	1	D;D	0.57257	0.974;0.979	P;P	0.55577	0.596;0.779	T	0.54702	-0.8254	10	0.10111	T	0.7	-3.9509	7.4646	0.27314	0.3255:0.0:0.6745:0.0	.	15;35	F5GYV8;Q13651	.;I10R1_HUMAN	Q	35;15;15	ENSP00000227752:E35Q;ENSP00000441397:E15Q	ENSP00000227752:E35Q	E	+	1	0	IL10RA	117364342	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	0.327000	0.19663	0.559000	0.29153	0.555000	0.69702	GAA		0.542	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			19	83	0	0	0	1	0	19	83				
NUP93	9688	broad.mit.edu	37	16	56868678	56868678	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:56868678C>T	ENST00000308159.5	+	16	1891	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	NUP93_ENST00000542526.1_Silent_p.D467D|NUP93_ENST00000569842.1_Silent_p.D590D|NUP93_ENST00000564887.1_Silent_p.D467D	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	590					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TAGAGAATGACGGAAGTAGAA	0.313																																					Colon(33;610 796 1305 1705 38917)	ENST00000564887.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1399-1401)gaC>gaT		nucleoporin 93kDa							82.0	82.0	82.0					16																	56868678		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56868678C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1770C>T	16.37:g.56868678C>T						NUP93_ENST00000569842.1_Silent_p.D590D|NUP93_ENST00000308159.5_Silent_p.D590D|NUP93_ENST00000542526.1_Silent_p.D467D	p.D467D	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN			14	2030	+			590					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.1401C>T	CCDS10769.1																																																																																				0.313	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		13	47	0	0	0	1	0	13	47				
SNX32	254122	broad.mit.edu	37	11	65617969	65617969	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65617969C>T	ENST00000308342.6	+	5	867	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	148	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGGCGGCCCACCCCACCCT	0.592																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(442-444)Cac>Tac		sorting nexin 32							56.0	50.0	52.0					11																	65617969		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617969C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.442C>T	11.37:g.65617969C>T	ENSP00000310620:p.His148Tyr						p.H148Y	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	5	867	+			148			PX.		Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.442C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540308	0.85917	.	.	ENSG00000172803	ENST00000308342	T	0.45668	0.89	4.48	3.54	0.40534	Phox homologous domain (4);	0.342297	0.25388	N	0.031038	T	0.73032	0.3535	H	0.97186	3.955	0.41912	D	0.990477	D	0.71674	0.998	D	0.70487	0.969	T	0.80576	-0.1321	10	0.72032	D	0.01	-15.839	11.348	0.49571	0.183:0.817:0.0:0.0	.	148	Q86XE0	SNX32_HUMAN	Y	148	ENSP00000310620:H148Y	ENSP00000310620:H148Y	H	+	1	0	SNX32	65374545	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.319000	0.65835	1.071000	0.40834	0.561000	0.74099	CAC		0.592	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		9	20	0	0	0	1	0	9	20				
TPM2	7169	broad.mit.edu	37	9	35689169	35689169	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35689169C>G	ENST00000360958.2	-	2	318	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TPM2_ENST00000378292.3_Missense_Mutation_p.E72Q|TPM2_ENST00000378300.5_Missense_Mutation_p.E72Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E72Q	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	72					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCCAGTTTCTCC	0.582																																						ENST00000378292.3																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(214-216)Gag>Cag		tropomyosin 2 (beta)							170.0	166.0	167.0					9																	35689169		2203	4300	6503	SO:0001583	missense	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35689169C>G		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.214G>C	9.37:g.35689169C>G	ENSP00000354219:p.Glu72Gln					TPM2_ENST00000378300.5_Missense_Mutation_p.E72Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E72Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E72Q	p.E72Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	1416	-	all_epithelial(49;0.121)		72					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	c.214G>C	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009898	0.75046	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	4.94	4.94	0.65067	.	.	.	.	.	D	0.90621	0.7059	M	0.89095	3.005	0.52501	D	0.999958	B;B;P;P;B	0.51449	0.074;0.143;0.876;0.945;0.066	B;B;P;P;B	0.62435	0.349;0.3;0.859;0.902;0.236	D	0.91995	0.5606	9	0.62326	D	0.03	-7.4533	17.9425	0.89029	0.0:1.0:0.0:0.0	.	72;72;72;72;72	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	Q	72	ENSP00000367550:E72Q;ENSP00000367542:E72Q;ENSP00000367541:E72Q;ENSP00000354219:E72Q	ENSP00000367541:E72Q	E	-	1	0	TPM2	35679169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.832000	0.69337	2.559000	0.86315	0.561000	0.74099	GAG		0.582	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		50	165	0	0	0	1	0	50	165				
POLA1	5422	broad.mit.edu	37	X	24741352	24741352	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:24741352G>A	ENST00000379059.3	+	11	1165	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	POLA1_ENST00000379068.3_Missense_Mutation_p.E390K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	384					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GAAAAATATCGAGCGAACGCT	0.413																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(1168-1170)Gag>Aag		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						205.0	185.0	192.0					X																	24741352		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24741352G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1150G>A	X.37:g.24741352G>A	ENSP00000368349:p.Glu384Lys					POLA1_ENST00000379059.3_Missense_Mutation_p.E384K	p.E390K			P09884	DPOLA_HUMAN			11	1211	+			384					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.1168G>A	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950341	0.73787	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.07800	3.16;3.16	5.25	5.25	0.73442	DNA-directed DNA polymerase, family B, exonuclease domain (1);	0.105389	0.64402	D	0.000005	T	0.29355	0.0731	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.93;0.991	T	0.26950	-1.0088	10	0.08381	T	0.77	-17.9613	17.9368	0.89014	0.0:0.0:1.0:0.0	.	390;384	A6NMQ1;P09884	.;DPOLA_HUMAN	K	390;384	ENSP00000368358:E390K;ENSP00000368349:E384K	ENSP00000368349:E384K	E	+	1	0	POLA1	24651273	1.000000	0.71417	0.693000	0.30195	0.202000	0.24057	9.169000	0.94788	2.427000	0.82271	0.600000	0.82982	GAG		0.413	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		29	105	0	0	0	1	0	29	105				
PLEKHG1	57480	broad.mit.edu	37	6	151161875	151161875	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:151161875T>A	ENST00000358517.2	+	16	4212	c.4001T>A	c.(4000-4002)gTt>gAt	p.V1334D	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.V1334D			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1334							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAAAGCCGGTTAACAGCAAA	0.418																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4000-4002)gTt>gAt		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							92.0	92.0	92.0					6																	151161875		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161875T>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4001T>A	6.37:g.151161875T>A	ENSP00000351318:p.Val1334Asp					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V1334D	p.V1334D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4313	+			1334					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4001T>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	6.210	0.406816	0.11754	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.60920	0.15;0.15	5.7	4.51	0.55191	.	1.240360	0.05014	N	0.471481	T	0.26122	0.0637	L	0.43152	1.355	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.32864	0.154;0.154	T	0.42032	-0.9475	10	0.72032	D	0.01	.	2.2986	0.04156	0.1565:0.0855:0.1634:0.5946	.	1141;1334	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	D	1334	ENSP00000356297:V1334D;ENSP00000351318:V1334D	ENSP00000351318:V1334D	V	+	2	0	PLEKHG1	151203568	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.995000	0.29706	0.945000	0.37605	0.533000	0.62120	GTT		0.418	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			41	120	0	0	0	1	0	41	120				
LRRIQ4	344657	broad.mit.edu	37	3	169540060	169540060	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:169540060C>T	ENST00000340806.6	+	1	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	117										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGCTTCCTCCACGCCCTGC	0.617																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(349-351)ctC>ctT		leucine-rich repeats and IQ motif containing 4							56.0	62.0	60.0					3																	169540060		2073	4213	6286	SO:0001819	synonymous_variant	344657							g.chr3:169540060C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.351C>T	3.37:g.169540060C>T							p.L117L	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	351	+			117						Silent	SNP	ENST00000340806.6	37	c.351C>T	CCDS46951.1																																																																																				0.617	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		16	88	0	0	0	1	0	16	88				
ADAMTS20	80070	broad.mit.edu	37	12	43823483	43823483	+	Silent	SNP	G	G	A	rs376977266		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:43823483G>A	ENST00000389420.3	-	24	3425	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_ENST00000553158.1_Silent_p.T1142T|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1142					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3424-3426)acC>acT		ADAM metallopeptidase with thrombospondin type 1 motif, 20		G		0,4406		0,0,2203	60.0	56.0	57.0		3426	-1.6	0.0	12		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ADAMTS20	NM_025003.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		1142/1911	43823483	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43823483G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3426C>T	12.37:g.43823483G>A						ADAMTS20_ENST00000553158.1_Silent_p.T1142T|ADAMTS20_ENST00000395541.2_Intron	p.T1142T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	24	3425	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1142					A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.3426C>T	CCDS31778.2																																																																																				0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	11	0	0	0	1	0	6	11				
SYNJ1	8867	broad.mit.edu	37	21	34030113	34030113	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:34030113C>T	ENST00000322229.7	-	18	2373	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D792N|SYNJ1_ENST00000382499.2_Missense_Mutation_p.D831N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D831N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D787N			O43426	SYNJ1_HUMAN	synaptojanin 1	792	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTGTCATAGTCGTCAGAAAAC	0.413																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2491-2493)Gac>Aac		synaptojanin 1							101.0	94.0	96.0					21																	34030113		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34030113C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2374G>A	21.37:g.34030113C>T	ENSP00000322234:p.Asp792Asn					SYNJ1_ENST00000433931.2_Missense_Mutation_p.D831N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D792N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D787N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D792N|SYNJ1_ENST00000464778.1_5'UTR	p.D831N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			19	2490	-			792			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2491G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544415	0.96488	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.53	5.53	0.82687	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	N	0.16656	0.425	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.954;0.999;0.987;0.989	D;P;D;P;P	0.73708	0.959;0.782;0.981;0.903;0.86	T	0.82106	-0.0621	10	0.34782	T	0.22	.	19.8304	0.96632	0.0:1.0:0.0:0.0	.	787;831;792;792;792	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	N	787;792;831;831;792	ENSP00000371931:D787N;ENSP00000349903:D792N;ENSP00000371939:D831N;ENSP00000409667:D831N;ENSP00000322234:D792N	ENSP00000322234:D792N	D	-	1	0	SYNJ1	32951984	1.000000	0.71417	0.977000	0.42913	0.977000	0.68977	7.758000	0.85224	2.758000	0.94735	0.563000	0.77884	GAC		0.413	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	77	0	0	0	1	0	6	77				
GCC1	79571	broad.mit.edu	37	7	127224969	127224969	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:127224969G>C	ENST00000321407.2	-	1	692	c.268C>G	c.(268-270)Cac>Gac	p.H90D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	90					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCTCGCTGTGAGTGGAGCAC	0.607																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(268-270)Cac>Gac		GRIP and coiled-coil domain containing 1							73.0	70.0	71.0					7																	127224969		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127224969G>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.268C>G	7.37:g.127224969G>C	ENSP00000318821:p.His90Asp					GCC1_ENST00000497650.1_Intron	p.H90D	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			1	692	-			90					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.268C>G	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566407	0.45694	.	.	ENSG00000179562	ENST00000321407	T	0.15603	2.41	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02144	-1.1206	10	0.19147	T	0.46	-22.6439	17.4821	0.87675	0.0:0.0:1.0:0.0	.	90	Q96CN9	GCC1_HUMAN	D	90	ENSP00000318821:H90D	ENSP00000318821:H90D	H	-	1	0	GCC1	127012205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.328000	0.72915	2.733000	0.93635	0.579000	0.79373	CAC		0.607	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		6	58	0	0	0	1	0	6	58				
CTC1	80169	broad.mit.edu	37	17	8141731	8141731	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:8141731G>A	ENST00000315684.8	-	3	421	c.414C>T	c.(412-414)aaC>aaT	p.N138N	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	138					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGACGCCAGTGTTATCTCTCA	0.507																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(412-414)aaC>aaT		CTS telomere maintenance complex component 1							147.0	145.0	145.0					17																	8141731		2026	4195	6221	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141731G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.414C>T	17.37:g.8141731G>A						CTC1_ENST00000581671.1_5'UTR	p.N138N	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			3	421	-			138					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.414C>T	CCDS42259.1																																																																																				0.507	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		35	108	0	0	0	1	0	35	108				
HERC2	8924	broad.mit.edu	37	15	28483355	28483355	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:28483355C>A	ENST00000261609.7	-	25	3865	c.3757G>T	c.(3757-3759)Gca>Tca	p.A1253S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTCCCCTGCAAACTGAGCT	0.458																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(3757-3759)Gca>Tca		HECT and RLD domain containing E3 ubiquitin protein ligase 2							13.0	15.0	14.0					15																	28483355		2183	4262	6445	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28483355C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3757G>T	15.37:g.28483355C>A	ENSP00000261609:p.Ala1253Ser						p.A1253S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	25	3865	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1253			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000261609.7	37	c.3757G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512285	0.85389	.	.	ENSG00000128731	ENST00000261609	D	0.85171	-1.95	5.35	5.35	0.76521	Cytochrome b5 (4);	0.167059	0.51477	D	0.000088	D	0.89076	0.6612	M	0.77820	2.39	0.80722	D	1	B	0.30542	0.284	B	0.40782	0.34	D	0.88215	0.2893	10	0.52906	T	0.07	.	18.6717	0.91514	0.0:1.0:0.0:0.0	.	1253	O95714	HERC2_HUMAN	S	1253	ENSP00000261609:A1253S	ENSP00000261609:A1253S	A	-	1	0	HERC2	26156950	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.734000	0.84928	2.518000	0.84900	0.555000	0.69702	GCA		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		14	49	1	0	2.31682e-05	1	2.3707e-05	14	49				
PCM1	5108	broad.mit.edu	37	8	17830019	17830019	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:17830019G>A	ENST00000519253.1	+	23	4017	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000325083.8_Missense_Mutation_p.E1256K|PCM1_ENST00000524226.1_Missense_Mutation_p.E1257K			Q15154	PCM1_HUMAN	pericentriolar material 1	1256					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTGATGAAGAATCACTGGA	0.403			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3766-3768)Gaa>Aaa		pericentriolar material 1							101.0	96.0	97.0					8																	17830019		1867	4100	5967	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17830019G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3766G>A	8.37:g.17830019G>A	ENSP00000431099:p.Glu1256Lys					PCM1_ENST00000524226.1_Missense_Mutation_p.E1257K|PCM1_ENST00000519253.1_Missense_Mutation_p.E1256K	p.E1256K	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	23	4205	+			1256					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3766G>A		.	.	.	.	.	.	.	.	.	.	G	19.75	3.886459	0.72410	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.54071	0.59;0.59;0.59	4.81	4.81	0.61882	.	0.320994	0.36854	N	0.002378	T	0.47395	0.1443	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.34103	0.437;0.437;0.437;0.437	B;B;B;B	0.34722	0.143;0.188;0.099;0.188	T	0.50224	-0.8853	10	0.49607	T	0.09	-8.6073	18.7667	0.91876	0.0:0.0:1.0:0.0	.	118;1256;1257;1256	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	K	1256;1256;1257	ENSP00000327077:E1256K;ENSP00000431099:E1256K;ENSP00000430521:E1257K	ENSP00000327077:E1256K	E	+	1	0	PCM1	17874299	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	7.615000	0.83006	2.604000	0.88044	0.313000	0.20887	GAA		0.403	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		13	55	0	0	0	1	0	13	55				
FSTL5	56884	broad.mit.edu	37	4	162697095	162697095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:162697095C>T	ENST00000306100.5	-	5	977	c.541G>A	c.(541-543)Gat>Aat	p.D181N	FSTL5_ENST00000379164.4_Missense_Mutation_p.D180N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D180N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D180N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	181	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AACATTTGATCCACCAATAGC	0.289																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(541-543)Gat>Aat		follistatin-like 5							105.0	106.0	105.0					4																	162697095		2203	4294	6497	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697095C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.541G>A	4.37:g.162697095C>T	ENSP00000305334:p.Asp181Asn					FSTL5_ENST00000536695.1_Missense_Mutation_p.D180N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D180N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D180N	p.D181N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	977	-	all_hematologic(180;0.24)		181			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.541G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015517	0.75161	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.3	5.3	0.74995	EF-hand-like domain (1);	0.046141	0.85682	D	0.000000	T	0.26882	0.0658	L	0.43152	1.355	0.80722	D	1	P;P;P	0.38922	0.651;0.622;0.651	B;B;B	0.38500	0.212;0.275;0.15	T	0.01776	-1.1276	10	0.34782	T	0.22	.	18.3021	0.90167	0.0:1.0:0.0:0.0	.	180;180;181	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	181;180;180;180	ENSP00000305334:D181N;ENSP00000368462:D180N;ENSP00000389270:D180N;ENSP00000440409:D180N	ENSP00000305334:D181N	D	-	1	0	FSTL5	162916545	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.969000	0.70422	2.625000	0.88918	0.650000	0.86243	GAT		0.289	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		12	87	0	0	0	1	0	12	87				
IQSEC1	9922	broad.mit.edu	37	3	12978071	12978071	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:12978071C>G	ENST00000273221.4	-	3	703	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	163	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCGGTTCTCTGACATGGAG	0.592																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(487-489)Gag>Cag		IQ motif and Sec7 domain 1							51.0	42.0	45.0					3																	12978071		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12978071C>G	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.487G>C	3.37:g.12978071C>G	ENSP00000273221:p.Glu163Gln					IQSEC1_ENST00000473088.1_5'UTR	p.E163Q	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	703	-			163			IQ.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.487G>C	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.544612|4.544612	0.86022|0.86022	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.61627|.	0.09;0.09|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73233|0.73233	0.3561|0.3561	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.85130|.	0.997;0.993;0.997|.	T|T	0.73329|0.73329	-0.4017|-0.4017	9|4	0.66056|.	D|.	0.02|.	.|.	17.558|17.558	0.87898|0.87898	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;149;163|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	Q|T	163;149;149|163	ENSP00000273221:E163Q;ENSP00000402299:E149Q|.	ENSP00000273221:E163Q|.	E|R	-|-	1|2	0|0	IQSEC1|IQSEC1	12953071|12953071	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.969000|0.969000	0.65631|0.65631	7.645000|7.645000	0.83430|0.83430	2.366000|2.366000	0.80165|0.80165	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.592	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		10	48	0	0	0	1	0	10	48				
ATP11B	23200	broad.mit.edu	37	3	182553928	182553928	+	Missense_Mutation	SNP	C	C	T	rs35764399		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:182553928C>T	ENST00000323116.5	+	5	681	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	ATP11B_ENST00000493826.1_Missense_Mutation_p.R141W|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	141					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAAAAACATTCGGGTATGCAT	0.338																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(421-423)Cgg>Tgg		ATPase, class VI, type 11B							93.0	92.0	92.0					3																	182553928		2202	4300	6502	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182553928C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.421C>T	3.37:g.182553928C>T	ENSP00000321195:p.Arg141Trp					ATP11B_ENST00000493826.1_Missense_Mutation_p.R141W|ATP11B_ENST00000482794.1_3'UTR	p.R141W	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		5	681	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		141					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.421C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893034	0.72524	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	D;D	0.90955	-2.76;-2.76	4.99	4.05	0.47172	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053475	0.64402	D	0.000001	D	0.96318	0.8799	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.96761	0.9561	10	0.87932	D	0	.	12.4495	0.55669	0.2921:0.7079:0.0:0.0	.	141;141	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	W	141	ENSP00000321195:R141W;ENSP00000419032:R141W	ENSP00000321195:R141W	R	+	1	2	ATP11B	184036622	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.655000	0.37345	2.452000	0.82932	0.491000	0.48974	CGG		0.338	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		15	26	0	0	0	1	0	15	26				
KAT6A	7994	broad.mit.edu	37	8	41801352	41801352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:41801352C>G	ENST00000396930.3	-	14	2685	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	KAT6A_ENST00000265713.2_Missense_Mutation_p.K714N|KAT6A_ENST00000485568.1_Missense_Mutation_p.K714N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K714N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	714	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGCTTAACTTCTTAATGCTGA	0.438																																						ENST00000396930.3																			0											c.(2140-2142)aaG>aaC		K(lysine) acetyltransferase 6A							223.0	179.0	194.0					8																	41801352		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41801352C>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2142G>C	8.37:g.41801352C>G	ENSP00000380136:p.Lys714Asn					KAT6A_ENST00000485568.1_Missense_Mutation_p.K714N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K714N|KAT6A_ENST00000265713.2_Missense_Mutation_p.K714N	p.K714N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			14	2685	-			714			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2142G>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616361	0.28801	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84516	0.17;0.17;0.17;-1.86	5.95	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	L	0.39566	1.225	0.45354	D	0.998343	P;D	0.69078	0.672;0.997	B;D	0.66351	0.379;0.943	D	0.86860	0.2029	10	0.54805	T	0.06	-35.4509	10.8254	0.46629	0.0:0.7799:0.0:0.2201	.	714;714	A5PLL3;Q92794	.;KAT6A_HUMAN	N	714;714;714;294;714	ENSP00000265713:K714N;ENSP00000385888:K714N;ENSP00000380136:K714N;ENSP00000430606:K714N	ENSP00000265713:K714N	K	-	3	2	KAT6A	41920509	0.997000	0.39634	1.000000	0.80357	0.882000	0.50991	0.546000	0.23284	1.527000	0.49086	0.655000	0.94253	AAG		0.438	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		23	77	0	0	0	1	0	23	77				
GFPT2	9945	broad.mit.edu	37	5	179762846	179762846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:179762846G>A	ENST00000253778.8	-	4	491	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	108	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGTCTGAGCGCTGAGGGTGG	0.612																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(322-324)Cgc>Tgc		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						112.0	132.0	125.0					5																	179762846		2104	4218	6322	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179762846G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.322C>T	5.37:g.179762846G>A	ENSP00000253778:p.Arg108Cys						p.R108C	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	491	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	108			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.322C>T	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380521	0.42207	.	.	ENSG00000131459	ENST00000253778	T	0.77358	-1.09	5.62	3.65	0.41850	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.73217	2.22	0.80722	D	1	D	0.56968	0.978	P	0.52217	0.693	T	0.81581	-0.0867	9	.	.	.	-25.457	11.9609	0.53007	0.0:0.1039:0.7211:0.175	.	108	O94808	GFPT2_HUMAN	C	108	ENSP00000253778:R108C	.	R	-	1	0	GFPT2	179695452	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	4.116000	0.57871	1.360000	0.45960	-0.181000	0.13052	CGC		0.612	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		19	50	0	0	0	1	0	19	50				
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T	rs546356291	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		18338	0.002		0.0	False		,,,				2504	0.001					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-828)caG>caA		nuclear receptor coactivator 6							93.0	71.0	78.0					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345723C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	55	0	0	0	1	0	4	55				
ATR	545	broad.mit.edu	37	3	142281507	142281507	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:142281507G>A	ENST00000350721.4	-	4	858	c.737C>T	c.(736-738)tCc>tTc	p.S246F	ATR_ENST00000383101.3_Missense_Mutation_p.S246F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	246					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTGCTAGGGATTTAATTTT	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(736-738)tCc>tTc	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							56.0	58.0	57.0					3																	142281507		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281507G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.737C>T	3.37:g.142281507G>A	ENSP00000343741:p.Ser246Phe					ATR_ENST00000383101.3_Missense_Mutation_p.S246F	p.S246F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	858	-			246					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.737C>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520955	0.27211	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66280	-0.2;-0.13	5.56	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.449194	0.23650	N	0.045925	T	0.40297	0.1111	N	0.14661	0.345	0.19775	N	0.999953	P	0.34780	0.468	B	0.30646	0.118	T	0.33369	-0.9871	10	0.54805	T	0.06	-1.3017	7.1976	0.25862	0.144:0.1445:0.7115:0.0	.	246	Q13535	ATR_HUMAN	F	246	ENSP00000343741:S246F;ENSP00000372581:S246F	ENSP00000343741:S246F	S	-	2	0	ATR	143764197	0.340000	0.24792	0.711000	0.30485	0.814000	0.46013	1.663000	0.37429	1.324000	0.45282	0.591000	0.81541	TCC		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		6	55	0	0	0	1	0	6	55				
EFCAB5	374786	broad.mit.edu	37	17	28269281	28269281	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:28269281G>C	ENST00000394835.3	+	2	258	c.66G>C	c.(64-66)gaG>gaC	p.E22D	EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E22D|EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E22D|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E22D	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	22							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGACAAAGAGAGGAAATGGA	0.338																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(64-66)gaG>gaC		EF-hand calcium binding domain 5							52.0	47.0	48.0					17																	28269281		1836	4080	5916	SO:0001583	missense	374786						calcium ion binding	g.chr17:28269281G>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.66G>C	17.37:g.28269281G>C	ENSP00000378312:p.Glu22Asp					EFCAB5_ENST00000394832.2_Missense_Mutation_p.E22D|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E22D|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E22D|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000536908.2_5'UTR	p.E22D	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			2	258	+			22					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.66G>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	5.693	0.312355	0.10789	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738	T;T;T;T	0.29142	2.67;2.63;1.92;1.58	3.8	1.55	0.23275	.	.	.	.	.	T	0.17704	0.0425	N	0.22421	0.69	0.09310	N	0.999991	B	0.32245	0.361	B	0.30855	0.121	T	0.21484	-1.0244	9	0.87932	D	0	-0.9458	3.6031	0.08032	0.6478:0.2284:0.1238:0.0	.	22	A4FU69	EFCB5_HUMAN	D	22	ENSP00000378312:E22D;ENSP00000322003:E22D;ENSP00000378309:E22D;ENSP00000368012:E22D	ENSP00000322003:E22D	E	+	3	2	EFCAB5	25293407	0.607000	0.26958	0.002000	0.10522	0.008000	0.06430	0.927000	0.28818	0.304000	0.22809	-0.482000	0.04802	GAG		0.338	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		3	8	0	0	0	1	0	3	8				
KHDRBS2	202559	broad.mit.edu	37	6	62887133	62887133	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:62887133T>C	ENST00000281156.4	-	2	454	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCTGAGAGCTTTATGTTTTT	0.323																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(175-177)aAg>aGg		KH domain containing, RNA binding, signal transduction associated 2							122.0	113.0	116.0					6																	62887133		2200	4298	6498	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887133T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.176A>G	6.37:g.62887133T>C	ENSP00000281156:p.Lys59Arg						p.K59R	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	454	-			59					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.176A>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481006	0.63849	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.17054	2.3	5.23	5.23	0.72850	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.45228	1.405	0.58432	D	0.999999	P	0.51057	0.941	P	0.48227	0.571	T	0.08493	-1.0719	10	0.23891	T	0.37	-3.7358	14.2849	0.66240	0.0:0.0:0.0:1.0	.	59	Q5VWX1	KHDR2_HUMAN	R	59	ENSP00000281156:K59R	ENSP00000281156:K59R	K	-	2	0	KHDRBS2	62945092	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	1.955000	0.56771	0.377000	0.23210	AAG		0.323	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		23	64	0	0	0	1	0	23	64				
PLBD1	79887	broad.mit.edu	37	12	14695211	14695211	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:14695211T>G	ENST00000240617.5	-	3	1002	c.350A>C	c.(349-351)cAc>cCc	p.H117P		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	117					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTGTGTAGTGGTCATTCAT	0.333																																						ENST00000240617.5																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(349-351)cAc>cCc		phospholipase B domain containing 1							219.0	201.0	207.0					12																	14695211		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14695211T>G	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.350A>C	12.37:g.14695211T>G	ENSP00000240617:p.His117Pro						p.H117P	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN			3	1002	-			117					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.350A>C	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587280	0.86851	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.20069	2.1;2.1	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.61252	-0.7100	10	0.66056	D	0.02	-28.6711	14.7745	0.69713	0.0:0.0:0.0:1.0	.	117	Q6P4A8	PLBL1_HUMAN	P	117;70	ENSP00000240617:H117P;ENSP00000438367:H70P	ENSP00000240617:H117P	H	-	2	0	PLBD1	14586478	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.952000	0.75989	2.311000	0.77944	0.533000	0.62120	CAC		0.333	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		17	83	0	0	0	1	0	17	83				
SCAF8	22828	broad.mit.edu	37	6	155154441	155154441	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:155154441C>T	ENST00000367178.3	+	20	4304	c.3728C>T	c.(3727-3729)tCa>tTa	p.S1243L	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.S1309L|SCAF8_ENST00000417268.1_Missense_Mutation_p.S1243L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1243					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGACATCTTCAAATGAAATA	0.398																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(3727-3729)tCa>tTa		SR-related CTD-associated factor 8							72.0	70.0	71.0					6																	155154441		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155154441C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3728C>T	6.37:g.155154441C>T	ENSP00000356146:p.Ser1243Leu					TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.S1243L|SCAF8_ENST00000367186.4_Missense_Mutation_p.S1309L	p.S1243L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	4304	+			1243					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.3728C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614001	0.66672	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.55234	0.58;0.58;0.53	5.62	5.62	0.85841	.	0.330014	0.24720	U	0.036141	T	0.57489	0.2057	L	0.29908	0.895	0.80722	D	1	P;P;D	0.63880	0.651;0.651;0.993	B;B;D	0.72338	0.122;0.122;0.977	T	0.62248	-0.6894	10	0.87932	D	0	.	19.6445	0.95771	0.0:1.0:0.0:0.0	.	1288;1309;1243	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	L	1243;1243;1309;204	ENSP00000356146:S1243L;ENSP00000413098:S1243L;ENSP00000356154:S1309L	ENSP00000356146:S1243L	S	+	2	0	TIAM2;SCAF8	155196133	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.162000	0.64942	2.646000	0.89796	0.655000	0.94253	TCA		0.398	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		12	52	0	0	0	1	0	12	52				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	17	0	0	0	1	0	5	17				
TMEM246	84302	broad.mit.edu	37	9	104238220	104238220	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:104238220C>T	ENST00000374851.1	-	4	2302	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	TMEM246_ENST00000374847.1_Silent_p.V385V|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.V385V			Q9BRR3	TM246_HUMAN	transmembrane protein 246	385						integral component of membrane (GO:0016021)											CGATGTGTTTCACGAGGTTCG	0.542																																						ENST00000374851.1																			0											c.(1153-1155)gtG>gtA		transmembrane protein 246							100.0	96.0	97.0					9																	104238220		2203	4300	6503	SO:0001819	synonymous_variant	84302					integral to membrane		g.chr9:104238220C>T	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1155G>A	9.37:g.104238220C>T						RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Silent_p.V385V|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.V385V|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA	p.V385V			Q9BRR3	CI125_HUMAN			4	2302	-			385					Q49AQ4	Silent	SNP	ENST00000374851.1	37	c.1155G>A	CCDS6757.1																																																																																				0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		18	68	0	0	0	1	0	18	68				
HLA-A	3105	broad.mit.edu	37	6	29911104	29911104	+	Missense_Mutation	SNP	C	C	T	rs41543413		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911104C>T	ENST00000396634.1	+	5	744	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	HLA-A_ENST00000376802.2_Missense_Mutation_p.R135C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376809.5_Missense_Mutation_p.R135C			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	135	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGCTTCCTCCGCGGGTACCG	0.672									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(403-405)Cgc>Tgc		major histocompatibility complex, class I, A							32.0	25.0	27.0					6																	29911104		1497	2698	4195	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911104C>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.403C>T	6.37:g.29911104C>T	ENSP00000379873:p.Arg135Cys	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376802.2_Missense_Mutation_p.R135C	p.R135C			P30443	1A01_HUMAN			5	744	+			135			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.403C>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	15.22	2.770255	0.49680	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00014	9.22;9.22;9.22;9.22	3.78	2.81	0.32909	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (4);MHC class I-like antigen recognition (4);	0.878405	0.09043	U	0.856994	T	0.00468	0.0015	H	0.99978	5.175	0.33162	D	0.547171	D;D;D;D;D;D;D	0.89917	0.996;0.997;1.0;0.997;1.0;0.998;0.997	D;P;D;D;D;P;P	0.87578	0.975;0.857;0.998;0.91;0.998;0.857;0.857	T	0.18085	-1.0348	10	0.87932	D	0	.	10.3825	0.44121	0.1959:0.8041:0.0:0.0	rs41543413	14;135;135;135;135;135;135	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	C	135	ENSP00000379873:R135C;ENSP00000366002:R135C;ENSP00000366005:R135C;ENSP00000365998:R135C	ENSP00000348012:R135C	R	+	1	0	HLA-A	30019083	0.000000	0.05858	1.000000	0.80357	0.632000	0.37999	-0.426000	0.07008	2.106000	0.64143	0.485000	0.47835	CGC		0.672	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		8	28	0	0	0	1	0	8	28				
SPTAN1	6709	broad.mit.edu	37	9	131388253	131388253	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131388253G>T	ENST00000372731.4	+	47	6370	c.6260G>T	c.(6259-6261)cGc>cTc	p.R2087L	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2092L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2092L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2087					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTCACTTCCGCAAGGTGAGG	0.622																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6274-6276)cGc>cTc		spectrin, alpha, non-erythrocytic 1							39.0	44.0	42.0					9																	131388253		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131388253G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6260G>T	9.37:g.131388253G>T	ENSP00000361816:p.Arg2087Leu					SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2087L|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2092L	p.R2092L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			48	6385	+			2087					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6275G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100516	0.76983	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.67698	-0.28;-0.28;-0.28	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	M	0.62723	1.935	0.80722	D	1	D;D;B	0.63046	0.987;0.992;0.432	P;D;B	0.70487	0.851;0.969;0.199	T	0.79279	-0.1869	10	0.44086	T	0.13	.	18.9597	0.92673	0.0:0.0:1.0:0.0	.	2067;2092;2087	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	L	2092;2087;2092;2067;336	ENSP00000350882:R2092L;ENSP00000361816:R2087L;ENSP00000361824:R2092L	ENSP00000350882:R2092L	R	+	2	0	SPTAN1	130428074	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.465000	0.97660	2.480000	0.83734	0.561000	0.74099	CGC		0.622	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		23	53	1	0	5.45024e-15	1	5.97039e-15	23	53				
SLC20A1	6574	broad.mit.edu	37	2	113416648	113416648	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:113416648C>A	ENST00000272542.3	+	7	1564	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	342					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAGAGGAAACCAGCATAGAT	0.468																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1024-1026)aCc>aAc		solute carrier family 20 (phosphate transporter), member 1							62.0	61.0	62.0					2																	113416648		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113416648C>A		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1025C>A	2.37:g.113416648C>A	ENSP00000272542:p.Thr342Asn					SLC20A1_ENST00000480984.1_3'UTR	p.T342N	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			7	1564	+			342					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.1025C>A	CCDS2099.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.769687|2.769687	0.49680|0.49680	.|.	.|.	ENSG00000144136|ENSG00000144136	ENST00000433924|ENST00000272542;ENST00000409095	.|D	.|0.90620	.|-2.7	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.356640	.|0.35646	.|N	.|0.003072	D|D	0.82761|0.82761	0.5107|0.5107	N|N	0.22421|0.22421	0.69|0.69	0.50632|0.50632	D|D	0.999889|0.999889	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.76176|0.76176	-0.3055|-0.3055	6|10	0.17369|0.17832	T|T	0.5|0.49	-10.9067|-10.9067	12.2845|12.2845	0.54786|0.54786	0.0:0.9182:0.0:0.0818|0.0:0.9182:0.0:0.0818	.|.	.|342;342	.|A7LNJ1;Q8WUM9	.|.;S20A1_HUMAN	K|N	125|342;154	.|ENSP00000272542:T342N	ENSP00000413393:N112K|ENSP00000272542:T342N	N|T	+|+	3|2	2|0	SLC20A1|SLC20A1	113133119|113133119	0.867000|0.867000	0.29959|0.29959	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.310000|3.310000	0.51911|0.51911	1.424000|1.424000	0.47217|0.47217	0.655000|0.655000	0.94253|0.94253	AAC|ACC		0.468	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		9	51	1	0	9.70103e-10	1	1.02035e-09	9	51				
VSIG8	391123	broad.mit.edu	37	1	159826374	159826374	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:159826374G>C	ENST00000368100.1	-	5	847	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	238	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ACTGTGCACTGATACAGCCCA	0.557																																						ENST00000368100.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(712-714)Cag>Gag		V-set and immunoglobulin domain containing 8							327.0	256.0	280.0					1																	159826374		2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159826374G>C		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.712C>G	1.37:g.159826374G>C	ENSP00000357080:p.Gln238Glu						p.Q238E	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN			5	847	-	all_hematologic(112;0.0597)		238			Ig-like V-type 2.		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.712C>G	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932957	0.52866	.	.	ENSG00000243284	ENST00000368100	T	0.64803	-0.12	5.12	5.12	0.69794	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.398476	0.26492	N	0.024070	T	0.60392	0.2265	L	0.47716	1.5	0.33252	D	0.558628	D	0.57571	0.98	P	0.61592	0.891	T	0.60016	-0.7345	10	0.31617	T	0.26	.	14.0718	0.64865	0.0:0.0:1.0:0.0	.	238	Q5VU13	VSIG8_HUMAN	E	238	ENSP00000357080:Q238E	ENSP00000357080:Q238E	Q	-	1	0	VSIG8	158092998	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	3.824000	0.55723	2.376000	0.81061	0.561000	0.74099	CAG		0.557	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		15	55	0	0	0	1	0	15	55				
MROH8	140699	broad.mit.edu	37	20	35752159	35752159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:35752159C>T	ENST00000400441.3	-	15	1828	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	MROH8_ENST00000441008.2_Missense_Mutation_p.R596Q|MROH8_ENST00000217333.8_Missense_Mutation_p.R439Q			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	CGTAGCTGCTCGAAGCCTGTT	0.483																																						ENST00000400441.3																			0											c.(1828-1830)cGa>cAa		maestro heat-like repeat family member 8							92.0	91.0	91.0					20																	35752159		2031	4184	6215	SO:0001583	missense	140699							g.chr20:35752159C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1829G>A	20.37:g.35752159C>T	ENSP00000383291:p.Arg610Gln					MROH8_ENST00000217333.8_Missense_Mutation_p.R439Q|MROH8_ENST00000441008.2_Missense_Mutation_p.R596Q	p.R610Q							15	1828	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1829G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.382|2.382	-0.341857|-0.341857	0.05243|0.05243	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.03301	.|4.2;4.46;3.98	5.4|5.4	0.643|0.643	0.17770|0.17770	.|.	.|0.575818	.|0.15897	.|N	.|0.239251	T|T	0.01905|0.01905	0.0060|0.0060	N|N	0.13043|0.13043	0.29|0.29	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24823	.|0.112;0.078	.|B;B	.|0.16722	.|0.01;0.016	T|T	0.48625|0.48625	-0.9019|-0.9019	5|10	.|0.17832	.|T	.|0.49	-0.3059|-0.3059	4.7257|4.7257	0.12939|0.12939	0.1559:0.5606:0.0:0.2835|0.1559:0.5606:0.0:0.2835	.|.	.|610;444	.|E7ETR9;Q9H579-2	.|.;.	K|Q	637|596;610;439	.|ENSP00000392144:R596Q;ENSP00000383291:R610Q;ENSP00000217333:R439Q	.|ENSP00000217333:R439Q	E|R	-|-	1|2	0|0	C20orf132|C20orf132	35185573|35185573	0.006000|0.006000	0.16342|0.16342	0.331000|0.331000	0.25455|0.25455	0.066000|0.066000	0.16364|0.16364	-0.882000|-0.882000	0.04174|0.04174	0.258000|0.258000	0.21686|0.21686	-0.339000|-0.339000	0.08088|0.08088	GAG|CGA		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		8	24	0	0	0	1	0	8	24				
DOCK9	23348	broad.mit.edu	37	13	99573303	99573303	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99573303C>T	ENST00000376460.1	-	7	702	c.622G>A	c.(622-624)Gat>Aat	p.D208N	DOCK9_ENST00000448493.2_Missense_Mutation_p.D220N|DOCK9_ENST00000339416.2_Missense_Mutation_p.D209N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D208N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAGGATCCATCGCCAAGTTGA	0.343																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(622-624)Gat>Aat		dedicator of cytokinesis 9							48.0	44.0	45.0					13																	99573303		1799	4060	5859	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99573303C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.622G>A	13.37:g.99573303C>T	ENSP00000365643:p.Asp208Asn					DOCK9_ENST00000339416.2_Missense_Mutation_p.D209N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D220N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D208N	p.D208N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			7	702	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		209			PH.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.622G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546551	0.96488	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.27720	2.03;2.11;1.65;1.71	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.998;1.0	T	0.57294	-0.7836	9	.	.	.	.	20.2504	0.98404	0.0:1.0:0.0:0.0	.	209;208;208;208;209	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	N	208;209;209;209;208;209;220;208	ENSP00000365643:D208N;ENSP00000341086:D209N;ENSP00000401958:D220N;ENSP00000406883:D208N	.	D	-	1	0	DOCK9	98371304	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	7.434000	0.80377	2.850000	0.98022	0.650000	0.86243	GAT		0.343	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	11	0	0	0	1	0	4	11				
B4GALNT3	283358	broad.mit.edu	37	12	674476	674476	+	IGR	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:674476G>C	ENST00000266383.5	+	0	5068				NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000397265.3_Missense_Mutation_p.I111M|NINJ2_ENST00000542920.1_Missense_Mutation_p.I82M|NINJ2_ENST00000305108.4_Missense_Mutation_p.I164M	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAAAACATTGATGACCACAG	0.542																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(490-492)atC>atG		ninjurin 2							122.0	107.0	112.0					12																	674476		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:674476G>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674476G>C						NINJ2_ENST00000397265.3_Missense_Mutation_p.I111M|NINJ2_ENST00000542920.1_Missense_Mutation_p.I82M	p.I164M	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		3	772	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		118					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.492C>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341197	0.60963	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920	T;T;T	0.46063	0.88;0.88;0.88	4.97	4.07	0.47477	.	0.272286	0.33938	N	0.004419	T	0.59183	0.2175	M	0.78049	2.395	0.80722	D	1	P	0.47841	0.901	P	0.55455	0.776	T	0.64257	-0.6450	10	0.62326	D	0.03	-20.9835	13.6526	0.62320	0.0759:0.0:0.9241:0.0	.	118	Q9NZG7	NINJ2_HUMAN	M	164;111;82	ENSP00000307552:I164M;ENSP00000380435:I111M;ENSP00000438831:I82M	ENSP00000307552:I164M	I	-	3	3	NINJ2	544737	1.000000	0.71417	0.806000	0.32338	0.811000	0.45836	3.811000	0.55620	1.090000	0.41315	0.491000	0.48974	ATC		0.542	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		10	48	0	0	0	1	0	10	48				
MIR147A	406939	broad.mit.edu	37	9	123007275	123007275	+	RNA	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:123007275C>T	ENST00000385079.1	-	0	53					NR_029604.1				microRNA 147a																		AGAAGCATTTCCACACACTGG	0.423																																						ENST00000385079.1																			0																				109.0	96.0	100.0					9																	123007275		1568	3582	5150			406939							g.chr9:123007275C>T			9q33.2	2011-11-14	2011-11-14	2011-11-14	ENSG00000207814	ENSG00000207814		"""ncRNAs / Micro RNAs"""	31534	non-coding RNA	RNA, micro			"""microRNA 147"""	MIRN147, MIR147			Standard	NR_029604		Approved	hsa-mir-147	uc011lxv.1				9.37:g.123007275C>T								NR_029604.1						0	53	-									RNA	SNP	ENST00000385079.1	37																																																																																						0.423	MIR147A-201	KNOWN	basic	miRNA	miRNA		NR_029604		33	116	0	0	0	1	0	33	116				
JADE3	9767	broad.mit.edu	37	X	46857542	46857542	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:46857542C>G	ENST00000218343.4	+	4	445	c.147C>G	c.(145-147)atC>atG	p.I49M	PHF16_ENST00000397189.1_Missense_Mutation_p.I49M	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGGACCTCATCAGTGCCATGA	0.413																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(145-147)atC>atG									163.0	137.0	146.0					X																	46857542		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46857542C>G																												ENST00000218343.4:c.147C>G	X.37:g.46857542C>G	ENSP00000218343:p.Ile49Met					PHF16_ENST00000397189.1_Missense_Mutation_p.I49M	p.I49M	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			4	445	+			49						Missense_Mutation	SNP	ENST00000218343.4	37	c.147C>G	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122951	0.56613	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.1	2.37	0.29283	Enhancer of polycomb-like, N-terminal (1);	0.095363	0.64402	D	0.000001	T	0.63850	0.2546	M	0.86651	2.83	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.62001	-0.6946	10	0.62326	D	0.03	.	7.7229	0.28742	0.0:0.4768:0.0:0.5232	.	49	Q92613	JADE3_HUMAN	M	49	ENSP00000391009:I49M;ENSP00000380373:I49M;ENSP00000218343:I49M;ENSP00000400584:I49M	ENSP00000218343:I49M	I	+	3	3	PHF16	46742486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.358000	0.44134	0.133000	0.18654	0.513000	0.50165	ATC		0.413	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			25	130	0	0	0	1	0	25	130				
DCAF12	25853	broad.mit.edu	37	9	34107381	34107381	+	Silent	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34107381C>A	ENST00000361264.4	-	3	857	c.516G>T	c.(514-516)acG>acT	p.T172T	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	172					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGATCCAGCGTAGGTAGTC	0.493																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(514-516)acG>acT		DDB1 and CUL4 associated factor 12							254.0	212.0	226.0					9																	34107381		2203	4300	6503	SO:0001819	synonymous_variant	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34107381C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.516G>T	9.37:g.34107381C>A						DCAF12_ENST00000463286.1_5'UTR	p.T172T	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			3	857	-			172					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	ENST00000361264.4	37	c.516G>T	CCDS6549.1																																																																																				0.493	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		27	112	1	0	2.4375e-19	1	2.68125e-19	27	112				
KCNJ10	3766	broad.mit.edu	37	1	160011200	160011200	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:160011200G>A	ENST00000368089.3	-	2	1349	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.R375S(1)|p.R375C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TTGCTGATGCGCACACTAAGG	0.532																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			2	Substitution - Missense(2)	p.R375S(1)|p.R375C(1)	lung(1)|kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(1123-1125)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 10							96.0	72.0	80.0					1																	160011200		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011200G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.1123C>T	1.37:g.160011200G>A	ENSP00000357068:p.Arg375Cys					KCNJ10_ENST00000509700.1_Intron	p.R375C	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1349	-	all_hematologic(112;0.093)		375					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.1123C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935814	0.52972	.	.	ENSG00000177807	ENST00000368089	D	0.90069	-2.61	4.77	4.77	0.60923	.	0.000000	0.44902	D	0.000419	D	0.84973	0.5591	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	P	0.60236	0.871	D	0.87512	0.2440	10	0.87932	D	0	.	10.4021	0.44235	0.0:0.0:0.8053:0.1947	.	375	P78508	IRK10_HUMAN	C	375	ENSP00000357068:R375C	ENSP00000357068:R375C	R	-	1	0	KCNJ10	158277824	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.070000	0.50033	2.489000	0.83994	0.655000	0.94253	CGC		0.532	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		6	21	0	0	0	1	0	6	21				
INTS1	26173	broad.mit.edu	37	7	1538445	1538445	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:1538445T>C	ENST00000404767.3	-	9	1266	c.1181A>G	c.(1180-1182)aAc>aGc	p.N394S	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.N522S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	394					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGTGTTGCAGTTCATGCAGAC	0.632																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1564-1566)aAc>aGc		integrator complex subunit 1							100.0	103.0	102.0					7																	1538445		2182	4260	6442	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538445T>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1181A>G	7.37:g.1538445T>C	ENSP00000385722:p.Asn394Ser					INTS1_ENST00000404767.3_Missense_Mutation_p.N394S	p.N522S			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	10	1564	-		Ovarian(82;0.0253)	394					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1565A>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877108	0.72180	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.57595	2.76;0.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.72982	0.979;0.955	T	0.76121	-0.3075	10	0.87932	D	0	.	14.9705	0.71229	0.0:0.0:0.0:1.0	.	522;394	A4D212;Q8N201	.;INT1_HUMAN	S	394;522	ENSP00000385722:N394S;ENSP00000374121:N522S	ENSP00000374121:N522S	N	-	2	0	INTS1	1504971	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.845000	0.86875	1.948000	0.56530	0.482000	0.46254	AAC		0.632	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			3	12	0	0	0	1	0	3	12				
ZNF846	162993	broad.mit.edu	37	19	9868876	9868876	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:9868876G>A	ENST00000397902.2	-	6	1290	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	ZNF846_ENST00000592859.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.H164Y	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	293					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)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAAGAATGGGTGAAGGCT	0.393																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(877-879)Cat>Tat		zinc finger protein 846							68.0	71.0	70.0					19																	9868876		2088	4241	6329	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868876G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.877C>T	19.37:g.9868876G>A	ENSP00000380999:p.His293Tyr					ZNF846_ENST00000588267.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000592859.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000586293.1_3'UTR	p.H293Y	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1290	-			293					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.877C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	3.896	-0.023091	0.07634	.	.	ENSG00000196605	ENST00000397902	T	0.06528	3.29	1.84	-3.68	0.04463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.17838	0.53	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.41197	-0.9522	8	.	.	.	.	4.5673	0.12193	0.2126:0.0:0.2536:0.5338	.	293	Q147U1	ZN846_HUMAN	Y	293	ENSP00000380999:H293Y	.	H	-	1	0	ZNF846	9729876	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-1.570000	0.02140	-2.511000	0.00503	0.456000	0.33151	CAT		0.393	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		25	80	0	0	0	1	0	25	80				
TRBV6-7	28600	broad.mit.edu	37	7	142143686	142143686	+	RNA	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:142143686G>C	ENST00000390373.2	-	0	309									T cell receptor beta variable 6-7 (non-functional)																		ACAGAAGTCTGAGAGGGAGCA	0.537																																						ENST00000390373.2																			0																																																			28600							g.chr7:142143686G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143686G>C														0	309	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.537	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		26	115	0	0	0	1	0	26	115				
SLC8A3	6547	broad.mit.edu	37	14	70633708	70633708	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:70633708C>T	ENST00000381269.2	-	2	2185	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E478K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E478K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E478K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E478K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	478	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGTGTTCATCCTCCTCA	0.517																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1432-1434)Gaa>Aaa		solute carrier family 8 (sodium/calcium exchanger), member 3							147.0	148.0	148.0					14																	70633708		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633708C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1432G>A	14.37:g.70633708C>T	ENSP00000370669:p.Glu478Lys					SLC8A3_ENST00000357887.3_Missense_Mutation_p.E478K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E478K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E478K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E478K	p.E478K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2185	-			478			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1432G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079166	0.76528	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.52	5.52	0.82312	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	L	0.56396	1.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.998;0.999;0.997;0.997	T	0.73129	-0.4080	10	0.87932	D	0	.	19.4433	0.94836	0.0:1.0:0.0:0.0	.	478;478;478;478	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	K	478	ENSP00000349392:E478K;ENSP00000370669:E478K;ENSP00000350560:E478K;ENSP00000436688:E478K;ENSP00000433531:E478K	ENSP00000349392:E478K	E	-	1	0	SLC8A3	69703461	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.811000	0.86092	2.582000	0.87167	0.637000	0.83480	GAA		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			23	167	0	0	0	1	0	23	167				
HPS5	11234	broad.mit.edu	37	11	18320456	18320456	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:18320456G>C	ENST00000349215.3	-	10	1324	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000531848.1_Silent_p.V235V|HPS5_ENST00000438420.2_Silent_p.V235V|HPS5_ENST00000396253.3_Silent_p.V235V	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	349					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAGATGTGAGACTTTCCCAT	0.443									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(703-705)gtC>gtG		Hermansky-Pudlak syndrome 5							151.0	137.0	142.0					11																	18320456		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18320456G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1047C>G	11.37:g.18320456G>C						HPS5_ENST00000349215.3_Silent_p.V349V|HPS5_ENST00000531848.1_Silent_p.V235V|HPS5_ENST00000438420.2_Silent_p.V235V	p.V235V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			9	1167	-			349					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.705C>G	CCDS7836.1																																																																																				0.443	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		14	109	0	0	0	1	0	14	109				
PTPN14	5784	broad.mit.edu	37	1	214557224	214557224	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:214557224G>C	ENST00000366956.5	-	13	2168	c.1974C>G	c.(1972-1974)ctC>ctG	p.L658L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	658					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAGCGACTTGAGCGTCATGG	0.682																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1972-1974)ctC>ctG		protein tyrosine phosphatase, non-receptor type 14							50.0	44.0	46.0					1																	214557224		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557224G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1974C>G	1.37:g.214557224G>C						PTPN14_ENST00000543945.1_3'UTR	p.L658L	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2168	-			658					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.1974C>G	CCDS1514.1																																																																																				0.682	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		4	35	0	0	0	1	0	4	35				
KCNB2	9312	broad.mit.edu	37	8	73849824	73849824	+	Missense_Mutation	SNP	C	C	T	rs557129070		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:73849824C>T	ENST00000523207.1	+	3	2822	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCTGACTTTTCGCTCACTACC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		17408	0.001		0.0	False		,,,				2504	0.0					ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2233-2235)tCg>tTg		potassium voltage-gated channel, Shab-related subfamily, member 2							107.0	113.0	111.0					8																	73849824		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849824C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2234C>T	8.37:g.73849824C>T	ENSP00000430846:p.Ser745Leu						p.S745L	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2822	+	Breast(64;0.137)		745					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2234C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.337852	0.01287	.	.	ENSG00000182674	ENST00000523207	T	0.22336	1.96	5.04	5.04	0.67666	.	2.774640	0.01570	N	0.020552	T	0.20047	0.0482	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33369	-0.9871	10	0.12430	T	0.62	.	12.9232	0.58245	0.0:0.9221:0.0:0.0779	.	745	Q92953	KCNB2_HUMAN	L	745	ENSP00000430846:S745L	ENSP00000430846:S745L	S	+	2	0	KCNB2	74012378	0.311000	0.24536	0.035000	0.18076	0.011000	0.07611	2.964000	0.49192	2.602000	0.87976	0.591000	0.81541	TCG		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		28	128	0	0	0	1	0	28	128				
UPF3B	65109	broad.mit.edu	37	X	118968979	118968979	+	Silent	SNP	C	C	T	rs149544140		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:118968979C>T	ENST00000276201.2	-	11	1383	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	UPF3B_ENST00000345865.2_Silent_p.A425A	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	438	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAAGCTGCATCGCTGGACGAT	0.413																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1312-1314)gcG>gcA		UPF3 regulator of nonsense transcripts homolog B (yeast)		C	,	0,3835		0,0,1632,571	141.0	118.0	126.0		1275,1314	-8.2	0.7	X	dbSNP_134	126	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	UPF3B	NM_023010.3,NM_080632.2	,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,	425/471,438/484	118968979	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118968979C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1314G>A	X.37:g.118968979C>T						UPF3B_ENST00000345865.2_Silent_p.A425A	p.A438A	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			11	1383	-			438			Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	ENST00000276201.2	37	c.1314G>A	CCDS14588.1																																																																																				0.413	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			13	134	0	0	0	1	0	13	134				
RASAL3	64926	broad.mit.edu	37	19	15569398	15569398	+	Missense_Mutation	SNP	C	C	T	rs201985806		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:15569398C>T	ENST00000343625.7	-	7	816	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	244	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGCACATCCCGCTCGGCACC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11514	0.0		0.0	False		,,,				2504	0.0					ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(730-732)cGg>cAg		RAS protein activator like 3							40.0	45.0	44.0					19																	15569398		2104	4224	6328	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15569398C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.731G>A	19.37:g.15569398C>T	ENSP00000341905:p.Arg244Gln						p.R244Q	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN			7	811	-			244			PH.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.731G>A	CCDS46006.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.948	0.176163	0.09443	.	.	ENSG00000105122	ENST00000343625	D	0.93019	-3.15	4.71	1.4	0.22301	Pleckstrin homology domain (1);	0.272209	0.18943	U	0.126900	T	0.79076	0.4385	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71364	-0.4615	10	0.45353	T	0.12	.	6.4998	0.22162	0.0:0.6261:0.0:0.3739	.	244	Q86YV0	RASL3_HUMAN	Q	244	ENSP00000341905:R244Q	ENSP00000341905:R244Q	R	-	2	0	RASAL3	15430398	0.000000	0.05858	0.992000	0.48379	0.240000	0.25518	-0.067000	0.11579	0.976000	0.38417	-0.424000	0.05967	CGG		0.637	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		6	17	0	0	0	1	0	6	17				
SLIT1	6585	broad.mit.edu	37	10	98808760	98808760	+	Missense_Mutation	SNP	C	C	T	rs371811928		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:98808760C>T	ENST00000266058.4	-	14	1662	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A473T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	473	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTGTTGGCGAGGCGCCGG	0.632																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1417-1419)Gcc>Acc		slit homolog 1 (Drosophila)		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	99.0	87.0	91.0		1417	4.2	0.8	10		91	0,8600		0,0,4300	no	missense	SLIT1	NM_003061.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	473/1535	98808760	1,13005	2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808760C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1417G>A	10.37:g.98808760C>T	ENSP00000266058:p.Ala473Thr					SLIT1_ENST00000371070.4_Missense_Mutation_p.A473T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.A473T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1662	-		Colorectal(252;0.162)	473			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1417G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015867	0.54468	2.27E-4	0.0	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81821	-1.54;-1.53;0.63	5.14	4.23	0.50019	Cysteine-rich flanking region, C-terminal (2);	0.051509	0.85682	D	0.000000	D	0.85720	0.5762	M	0.73598	2.24	0.80722	D	1	P;B	0.39060	0.657;0.269	P;B	0.47102	0.537;0.031	D	0.85972	0.1477	10	0.62326	D	0.03	.	18.0346	0.89296	0.1234:0.8766:0.0:0.0	.	483;473	E7EWQ8;O75093	.;SLIT1_HUMAN	T	473;483;473;466	ENSP00000266058:A473T;ENSP00000360109:A473T;ENSP00000315005:A466T	ENSP00000266058:A473T	A	-	1	0	SLIT1	98798750	1.000000	0.71417	0.825000	0.32803	0.868000	0.49771	4.830000	0.62745	0.752000	0.32923	-1.466000	0.01016	GCC		0.632	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		29	86	0	0	0	1	0	29	86				
IQCB1	9657	broad.mit.edu	37	3	121514306	121514306	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:121514306G>C	ENST00000310864.6	-	10	1198	c.984C>G	c.(982-984)ttC>ttG	p.F328L	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	328	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTTTTTACCTGAAACTCCTCT	0.348																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(982-984)ttC>ttG		IQ motif containing B1							53.0	54.0	54.0					3																	121514306		2202	4299	6501	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121514306G>C	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.984C>G	3.37:g.121514306G>C	ENSP00000311505:p.Phe328Leu					IQCB1_ENST00000349820.6_Intron	p.F328L	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	10	1198	-			328			IQ 2.		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.984C>G	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106008	0.77096	.	.	ENSG00000173226	ENST00000310864	T	0.71222	-0.55	4.7	3.82	0.43975	.	0.054451	0.64402	D	0.000001	T	0.79879	0.4522	M	0.75264	2.295	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.79792	-0.1654	10	0.59425	D	0.04	-11.9531	7.1591	0.25654	0.1985:0.0:0.8015:0.0	.	328	Q15051	IQCB1_HUMAN	L	328	ENSP00000311505:F328L	ENSP00000311505:F328L	F	-	3	2	IQCB1	122996996	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.645000	0.46621	1.336000	0.45506	0.460000	0.39030	TTC		0.348	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		36	133	0	0	0	1	0	36	133				
RRP1B	23076	broad.mit.edu	37	21	45107525	45107525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107525G>T	ENST00000340648.4	+	13	1387	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	424					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCCATCCCTGGAACAGAACCG	0.612																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1270-1272)Gaa>Taa		ribosomal RNA processing 1B							19.0	24.0	22.0					21																	45107525		2192	4290	6482	SO:0001587	stop_gained	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107525G>T	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1270G>T	21.37:g.45107525G>T	ENSP00000339145:p.Glu424*						p.E424*	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1387	+			424					Q8TBZ4	Nonsense_Mutation	SNP	ENST00000340648.4	37	c.1270G>T	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266715	0.95399	.	.	ENSG00000160208	ENST00000340648	.	.	.	4.56	1.66	0.24008	.	1.056370	0.07273	N	0.869477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.3649	6.3862	0.21561	0.1673:0.1483:0.6844:0.0	.	.	.	.	X	424	.	ENSP00000339145:E424X	E	+	1	0	RRP1B	43931953	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.301000	0.19174	0.102000	0.17638	0.561000	0.74099	GAA		0.612	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		9	30	1	0	0.000274275	1	0.000276369	9	30				
PCDHA1	56147	broad.mit.edu	37	5	140165895	140165895	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140165895G>A	ENST00000504120.2	+	1	20	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PCDHA1_ENST00000394633.3_Missense_Mutation_p.G7E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G7E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	7					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGAGAGGGGGCCTGGGA	0.502																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(19-21)gGg>gAg									81.0	98.0	93.0					5																	140165895		2202	4300	6502	SO:0001583	missense	56147							g.chr5:140165895G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.20G>A	5.37:g.140165895G>A	ENSP00000420840:p.Gly7Glu					PCDHA1_ENST00000378133.3_Missense_Mutation_p.G7E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G7E	p.G7E	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	20	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.20G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	6.333	0.429562	0.11987	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52983	0.78;0.64;0.79	4.6	1.75	0.24633	.	0.542047	0.15154	N	0.277554	T	0.37544	0.1007	L	0.49699	1.58	0.09310	N	1	B;B;B	0.12013	0.0;0.0;0.005	B;B;B	0.10450	0.001;0.002;0.005	T	0.24297	-1.0164	10	0.21540	T	0.41	.	8.7071	0.34360	0.3911:0.0:0.6089:0.0	.	7;7;7	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	E	7	ENSP00000420840:G7E;ENSP00000378129:G7E;ENSP00000367373:G7E	ENSP00000367373:G7E	G	+	2	0	PCDHA1	140146079	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.484000	0.22308	0.498000	0.27948	-0.157000	0.13467	GGG		0.502	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		22	103	0	0	0	1	0	22	103				
UBA7	7318	broad.mit.edu	37	3	49841713	49841713	+	IGR	SNP	T	T	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:49841713T>G	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.S53A	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTTAGGGCCTCGGGTGCCTT	0.617																																						ENST00000333323.4																			0											c.(157-159)Tcg>Gcg		family with sequence similarity 212, member A							69.0	71.0	70.0					3																	49841713		2203	4300	6503	SO:0001628	intergenic_variant	389119							g.chr3:49841713T>G	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267		3.37:g.49841713T>G							p.S53A	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	290	+			51					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.157T>G	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778179	0.49786	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.52	4.37	0.52481	.	0.175726	0.27673	N	0.018327	T	0.55940	0.1952	M	0.68593	2.085	0.45439	D	0.998416	P	0.42785	0.79	B	0.42030	0.373	T	0.57740	-0.7759	9	0.59425	D	0.04	.	9.1878	0.37180	0.0:0.0839:0.0:0.9161	.	51	Q96EL1	CC054_HUMAN	A	53	.	ENSP00000329735:S53A	S	+	1	0	C3orf54	49816717	0.214000	0.23563	0.987000	0.45799	0.745000	0.42441	0.989000	0.29629	0.940000	0.37473	0.459000	0.35465	TCG		0.617	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		19	69	0	0	0	1	0	19	69				
DNAH2	146754	broad.mit.edu	37	17	7636513	7636513	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7636513G>T	ENST00000572933.1	+	5	1968	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DNAH2_ENST00000389173.2_Missense_Mutation_p.A170S|DNAH2_ENST00000082259.3_Missense_Mutation_p.A170S|DNAH2_ENST00000570791.1_Missense_Mutation_p.A170S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	170	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTATATCCCGGCCCTGCTTCG	0.547																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(508-510)Gcc>Tcc		dynein, axonemal, heavy chain 2							89.0	88.0	88.0					17																	7636513		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7636513G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.508G>T	17.37:g.7636513G>T	ENSP00000458355:p.Ala170Ser					DNAH2_ENST00000082259.3_Missense_Mutation_p.A170S|DNAH2_ENST00000389173.2_Missense_Mutation_p.A170S|DNAH2_ENST00000570791.1_Missense_Mutation_p.A170S	p.A170S			Q9P225	DYH2_HUMAN			5	1968	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	170			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.508G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	5.756	0.323849	0.10900	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.34072	1.38;1.38	5.42	5.42	0.78866	.	2.325180	0.01941	N	0.041861	T	0.19927	0.0479	N	0.02539	-0.55	0.30865	N	0.733134	B;B	0.17465	0.005;0.022	B;B	0.15484	0.005;0.013	T	0.13872	-1.0493	10	0.07325	T	0.83	.	13.6068	0.62052	0.0:0.0:0.8441:0.1559	.	170;170	Q9P225;Q9P225-3	DYH2_HUMAN;.	S	170	ENSP00000373825:A170S;ENSP00000082259:A170S	ENSP00000082259:A170S	A	+	1	0	DNAH2	7577238	0.995000	0.38212	0.994000	0.49952	0.849000	0.48306	2.374000	0.44274	2.561000	0.86390	0.561000	0.74099	GCC		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		32	105	1	0	1.62565e-12	1	1.73753e-12	32	105				
VPS13B	157680	broad.mit.edu	37	8	100883892	100883892	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:100883892G>A	ENST00000358544.2	+	61	11898	c.11787G>A	c.(11785-11787)caG>caA	p.Q3929Q	VPS13B_ENST00000357162.2_Silent_p.Q3904Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3929					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACAGTGCAGCTCAAGCAGC	0.552																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11785-11787)caG>caA		vacuolar protein sorting 13 homolog B (yeast)							224.0	198.0	207.0					8																	100883892		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100883892G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11787G>A	8.37:g.100883892G>A						VPS13B_ENST00000357162.2_Silent_p.Q3904Q|VPS13B_ENST00000395996.1_3'UTR	p.Q3929Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		61	11898	+	Breast(36;3.73e-07)		3929					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.11787G>A	CCDS6280.1																																																																																				0.552	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		113	191	0	0	0	1	0	113	191				
STIM2	57620	broad.mit.edu	37	4	27009227	27009227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:27009227C>T	ENST00000467011.1	+	8	1479	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	STIM2_ENST00000412829.2_Nonsense_Mutation_p.Q439*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.Q439*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.Q439*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	352					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGATGCACTTCAGAAATGGCT	0.403																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1315-1317)Cag>Tag		stromal interaction molecule 2							68.0	67.0	67.0					4																	27009227		2203	4300	6503	SO:0001587	stop_gained	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27009227C>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1054C>T	4.37:g.27009227C>T	ENSP00000419383:p.Gln352*					STIM2_ENST00000465503.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.Q439*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.Q439*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.Q352*	p.Q439*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			8	1582	+		Breast(46;0.0503)	352					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	ENST00000467011.1	37	c.1315C>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	42	9.497692	0.99187	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	.	.	.	5.22	5.22	0.72569	.	0.111193	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1387	0.93439	0.0:1.0:0.0:0.0	.	.	.	.	X	352;439;439;352;439;352;60	.	ENSP00000237364:Q439X	Q	+	1	0	STIM2	26618325	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.445000	0.80570	2.603000	0.88011	0.591000	0.81541	CAG		0.403	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		26	68	0	0	0	1	0	26	68				
CADPS2	93664	broad.mit.edu	37	7	122269330	122269330	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:122269330C>A	ENST00000449022.2	-	4	858	c.839G>T	c.(838-840)cGg>cTg	p.R280L	CADPS2_ENST00000313070.7_Missense_Mutation_p.R280L|CADPS2_ENST00000412584.2_Missense_Mutation_p.R280L|CADPS2_ENST00000334010.7_Missense_Mutation_p.R280L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	280					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAATTGCAGCCGGCCATCAAG	0.358																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(838-840)cGg>cTg		Ca++-dependent secretion activator 2							61.0	60.0	60.0					7																	122269330		1856	4091	5947	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122269330C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.839G>T	7.37:g.122269330C>A	ENSP00000398481:p.Arg280Leu					CADPS2_ENST00000449022.2_Missense_Mutation_p.R280L|CADPS2_ENST00000412584.2_Missense_Mutation_p.R280L|CADPS2_ENST00000313070.7_Missense_Mutation_p.R280L	p.R280L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			4	1260	-			280					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.839G>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275189	0.95459	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.59502	0.26;0.27;0.26;0.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.987	T	0.78912	-0.2017	10	0.87932	D	0	-10.5162	19.2354	0.93856	0.0:1.0:0.0:0.0	.	280;280	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	L	280;280;280;247;280;280	ENSP00000325581:R280L;ENSP00000333940:R280L;ENSP00000400401:R280L;ENSP00000398481:R280L	ENSP00000325581:R280L	R	-	2	0	CADPS2	122056566	1.000000	0.71417	0.909000	0.35828	0.922000	0.55478	7.772000	0.85439	2.551000	0.86045	0.563000	0.77884	CGG		0.358	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		5	23	1	0	3.59834e-05	1	3.6678e-05	5	23				
C11orf30	56946	broad.mit.edu	37	11	76234275	76234275	+	Silent	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76234275A>G	ENST00000529032.1	+	11	1761	c.1761A>G	c.(1759-1761)aaA>aaG	p.K587K	C11orf30_ENST00000524767.1_Silent_p.K602K|C11orf30_ENST00000525038.1_Silent_p.K602K|C11orf30_ENST00000343878.3_Silent_p.K587K|C11orf30_ENST00000334736.3_Silent_p.K587K|C11orf30_ENST00000533248.1_Silent_p.K601K|C11orf30_ENST00000525919.1_Silent_p.K588K|C11orf30_ENST00000524490.1_Silent_p.K503K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	587	Thr-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTACAGGAAAAGGAACGACCA	0.438																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(1759-1761)aaA>aaG		chromosome 11 open reading frame 30							114.0	105.0	108.0					11																	76234275		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76234275A>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1761A>G	11.37:g.76234275A>G						C11orf30_ENST00000525919.1_Silent_p.K588K|C11orf30_ENST00000524767.1_Silent_p.K602K|C11orf30_ENST00000334736.3_Silent_p.K587K|C11orf30_ENST00000525038.1_Silent_p.K602K|C11orf30_ENST00000524490.1_Silent_p.K503K|C11orf30_ENST00000533248.1_Silent_p.K601K|C11orf30_ENST00000343878.3_Silent_p.K587K	p.K587K			Q7Z589	EMSY_HUMAN			11	1761	+			587			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.1761A>G	CCDS8244.1																																																																																				0.438	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		4	122	0	0	0	1	0	4	122				
EIF4G3	8672	broad.mit.edu	37	1	21205842	21205842	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:21205842C>T	ENST00000264211.8	-	14	2622	c.2428G>A	c.(2428-2430)Gca>Aca	p.A810T	EIF4G3_ENST00000537738.1_Missense_Mutation_p.A300T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A816T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A810T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A414T|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A816T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A530T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	810	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACATGTTTGCGTAAGCCACA	0.448																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2446-2448)Gca>Aca		eukaryotic translation initiation factor 4 gamma, 3							163.0	162.0	162.0					1																	21205842		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205842C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2428G>A	1.37:g.21205842C>T	ENSP00000264211:p.Ala810Thr					EIF4G3_ENST00000400422.1_Missense_Mutation_p.A810T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A530T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A816T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A810T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A300T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A414T	p.A816T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3029	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	810			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2446G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	36	5.745170	0.96882	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.6	5.6	0.85130	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.057272	0.64402	D	0.000001	T	0.71281	0.3321	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D	0.89917	0.993;0.998;0.994;1.0;0.998	P;D;P;D;D	0.68483	0.762;0.958;0.899;0.949;0.938	T	0.76865	-0.2801	10	0.87932	D	0	-5.2139	19.618	0.95643	0.0:1.0:0.0:0.0	.	1005;530;414;816;810	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	T	810;1006;810;530;300;816;414	ENSP00000264211:A810T;ENSP00000383274:A810T;ENSP00000364071:A530T;ENSP00000442010:A300T;ENSP00000364073:A816T;ENSP00000444693:A414T	ENSP00000264211:A810T	A	-	1	0	EIF4G3	21078429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.635000	0.89317	0.650000	0.86243	GCA		0.448	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		16	153	0	0	0	1	0	16	153				
ARNT	405	broad.mit.edu	37	1	150830924	150830924	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:150830924T>C	ENST00000358595.5	-	2	238	c.38A>G	c.(37-39)gAt>gGt	p.D13G	ARNT_ENST00000515192.1_Missense_Mutation_p.D4G|ARNT_ENST00000505755.1_Missense_Mutation_p.D13G|ARNT_ENST00000354396.2_Missense_Mutation_p.D13G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	13					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATGGTACATCTGATGTCAT	0.433			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(37-39)gAt>gGt		aryl hydrocarbon receptor nuclear translocator							58.0	48.0	51.0					1																	150830924		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150830924T>C	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.38A>G	1.37:g.150830924T>C	ENSP00000351407:p.Asp13Gly					ARNT_ENST00000354396.2_Missense_Mutation_p.D13G|ARNT_ENST00000515192.1_Missense_Mutation_p.D4G|ARNT_ENST00000505755.1_Missense_Mutation_p.D13G	p.D13G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	238	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		13					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.38A>G	CCDS970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.73|17.73	3.461875|3.461875	0.63513|0.63513	.|.	.|.	ENSG00000143437|ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000505755|ENST00000394700	T;T;T;T|.	0.09073|.	3.16;3.18;3.02;3.06|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.127305|.	0.53938|.	D|.	0.000059|.	T|T	0.56262|0.56262	0.1973|0.1973	M|M	0.76002|0.76002	2.32|2.32	0.45161|0.45161	D|D	0.998171|0.998171	D;D;D;D;D;D|B	0.89917|0.06786	0.976;0.967;0.997;1.0;0.999;0.967|0.001	P;P;D;D;D;P|B	0.91635|0.08055	0.612;0.699;0.971;0.999;0.976;0.699|0.003	T|T	0.62110|0.62110	-0.6923|-0.6923	10|8	0.87932|0.87932	D|D	0|0	.|.	13.7363|13.7363	0.62819|0.62819	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	13;13;13;4;13;13|1	A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540|B4E3L5	.;.;.;.;.;ARNT_HUMAN|.	G|V	13;13;13;4;13|1	ENSP00000351407:D13G;ENSP00000346372:D13G;ENSP00000423851:D4G;ENSP00000427571:D13G|.	ENSP00000346372:D13G|ENSP00000378190:M1V	D|M	-|-	2|1	0|0	ARNT|ARNT	149097548|149097548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.185000|4.185000	0.58330|0.58330	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.433	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			12	30	0	0	0	1	0	12	30				
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					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)	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567													G|||	4	0.000798722	0.0	0.0029	5008	,	,		19012	0.0		0.001	False		,,,				2504	0.001					ENST00000329665.4																			1	Substitution - coding silent(1)	p.A321A(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(961-963)gcG>gcA		zinc finger and SCAN domain containing 22		G		3,4403	6.2+/-15.9	0,3,2200	73.0	78.0	76.0		963	-2.7	0.7	19	dbSNP_134	76	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ZSCAN22	NM_181846.2		0,10,6493	AA,AG,GG		0.0814,0.0681,0.0769		321/492	58850179	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850179G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.963G>A	19.37:g.58850179G>A							p.A321A	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1110	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	321					Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	c.963G>A	CCDS12975.1																																																																																				0.567	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		20	92	0	0	0	1	0	20	92				
NPY4R	5540	broad.mit.edu	37	10	47087657	47087657	+	Missense_Mutation	SNP	C	C	T	rs142588212		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:47087657C>T	ENST00000395716.1	+	2	959	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	NPY4R_ENST00000374312.1_Missense_Mutation_p.H292Y			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	292					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGACTGGCACCATGAGGCCAT	0.557																																						ENST00000374312.1																			0											c.(874-876)Cat>Tat		neuropeptide Y receptor Y4																																				SO:0001583	missense	5540							g.chr10:47087657C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.874C>T	10.37:g.47087657C>T	ENSP00000379066:p.His292Tyr					NPY4R_ENST00000395716.1_Missense_Mutation_p.H292Y	p.H292Y	NM_005972.4	NP_005963.3					3	1293	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.874C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694283	0.48202	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.57107	0.42;0.42	5.18	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.356169	0.31760	N	0.007114	T	0.44829	0.1312	L	0.45285	1.41	0.35167	D	0.771246	B	0.27732	0.187	B	0.30251	0.113	T	0.54781	-0.8242	10	0.35671	T	0.21	.	12.536	0.56142	0.1672:0.8328:0.0:0.0	.	292	P50391	NPY4R_HUMAN	Y	292	ENSP00000363431:H292Y;ENSP00000379066:H292Y	ENSP00000363431:H292Y	H	+	1	0	PPYR1	46507663	1.000000	0.71417	0.909000	0.35828	0.974000	0.67602	3.634000	0.54302	2.601000	0.87937	0.655000	0.94253	CAT		0.557	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			11	69	0	0	0	1	0	11	69				
AES	166	broad.mit.edu	37	19	3054017	3054017	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054017G>A	ENST00000327141.4	-	7	750	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	AES_ENST00000592330.1_Intron|AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Silent_p.L76L|AES_ENST00000221561.8_Silent_p.L199L	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	132	Gly/Pro-rich (GP domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGGACAGCTGGTGGGCT	0.721																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(595-597)Ctg>Ttg		amino-terminal enhancer of split							6.0	8.0	7.0					19																	3054017		2142	4166	6308	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3054017G>A	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.394C>T	19.37:g.3054017G>A						AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Silent_p.L132L|AES_ENST00000586839.1_Silent_p.L76L	p.L199L	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	774	-		Hepatocellular(1079;0.137)	132					B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.595C>T	CCDS12102.1																																																																																				0.721	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		7	17	0	0	0	1	0	7	17				
HLA-A	3105	broad.mit.edu	37	6	29911088	29911088	+	Silent	SNP	G	G	C	rs45505094		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911088G>C	ENST00000396634.1	+	5	728	c.387G>C	c.(385-387)tcG>tcC	p.S129S	HLA-A_ENST00000376802.2_Silent_p.S129S|HLA-A_ENST00000376806.5_Silent_p.S129S|HLA-A_ENST00000376809.5_Silent_p.S129S			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	129	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGTGGGGTCGGACGGGCGCT	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(385-387)tcG>tcC		major histocompatibility complex, class I, A							28.0	22.0	24.0					6																	29911088		1499	2698	4197	SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911088G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.387G>C	6.37:g.29911088G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.S129S|HLA-A_ENST00000376806.5_Silent_p.S129S|HLA-A_ENST00000376802.2_Silent_p.S129S	p.S129S			P30443	1A01_HUMAN			5	728	+			129			Alpha-2.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.387G>C	CCDS34373.1																																																																																				0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		9	33	0	0	0	1	0	9	33				
SLCO1B1	10599	broad.mit.edu	37	12	21377690	21377690	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:21377690G>C	ENST00000256958.2	+	14	1878	c.1782G>C	c.(1780-1782)ctG>ctC	p.L594L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	594					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTGGGGCTCTGATTGATACAA	0.373																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1780-1782)ctG>ctC		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						149.0	144.0	146.0					12																	21377690		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377690G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1782G>C	12.37:g.21377690G>C							p.L594L	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			14	1878	+			594					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1782G>C	CCDS8685.1																																																																																				0.373	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		14	155	0	0	0	1	0	14	155				
PLEC	5339	broad.mit.edu	37	8	144996950	144996950	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:144996950C>T	ENST00000322810.4	-	31	7727	c.7558G>A	c.(7558-7560)Gag>Aag	p.E2520K	PLEC_ENST00000354589.3_Missense_Mutation_p.E2383K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2387K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2406K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2369K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2351K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2410K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2361K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2383K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2520	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGGCGCTCAGCCTCAGCG	0.697																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7558-7560)Gag>Aag		plectin							10.0	11.0	10.0					8																	144996950		2109	4240	6349	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996950C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7558G>A	8.37:g.144996950C>T	ENSP00000323856:p.Glu2520Lys					PLEC_ENST00000354958.2_Missense_Mutation_p.E2361K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2369K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2406K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2410K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2383K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2351K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2383K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2387K	p.E2520K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	7727	-			2520			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7558G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631505	0.46944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.90788	-2.7;-2.7;-2.73;-2.72;-2.68;-2.68;-2.66;-2.69;-2.69	5.08	5.08	0.68730	.	0.080769	0.46442	U	0.000286	D	0.86657	0.5985	L	0.44542	1.39	0.53688	D	0.999976	P;P;P;P;P;P;P;P	0.41450	0.75;0.75;0.75;0.635;0.75;0.75;0.75;0.75	B;B;B;B;B;B;B;B	0.36092	0.217;0.217;0.217;0.108;0.217;0.217;0.217;0.217	D	0.86034	0.1515	10	0.30854	T	0.27	.	18.0666	0.89392	0.0:1.0:0.0:0.0	.	2410;2369;2361;2520;2351;2383;2387;2383	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2383;2387;2383;2351;2520;2361;2369;2410;2406	ENSP00000344848:E2383K;ENSP00000350277:E2387K;ENSP00000346602:E2383K;ENSP00000381756:E2351K;ENSP00000323856:E2520K;ENSP00000347044:E2361K;ENSP00000348702:E2369K;ENSP00000388180:E2410K;ENSP00000434583:E2406K	ENSP00000323856:E2520K	E	-	1	0	PLEC	145068938	1.000000	0.71417	0.994000	0.49952	0.896000	0.52359	3.886000	0.56190	2.379000	0.81126	0.549000	0.68633	GAG		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	12	0	0	0	1	0	4	12				
ZNF484	83744	broad.mit.edu	37	9	95609862	95609862	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:95609862G>T	ENST00000375495.3	-	5	1355	c.1207C>A	c.(1207-1209)Cag>Aag	p.Q403K	ZNF484_ENST00000395506.3_Missense_Mutation_p.Q405K|ZNF484_ENST00000395505.2_Missense_Mutation_p.Q367K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.Q367K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	403					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGATTTTCTGATGCATACTT	0.343																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1099-1101)Cag>Aag		zinc finger protein 484							64.0	70.0	68.0					9																	95609862		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609862G>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1207C>A	9.37:g.95609862G>T	ENSP00000364645:p.Gln403Lys					ZNF484_ENST00000395506.3_Missense_Mutation_p.Q405K|ZNF484_ENST00000332591.6_Missense_Mutation_p.Q367K|ZNF484_ENST00000375495.3_Missense_Mutation_p.Q403K|ANKRD19P_ENST00000473204.1_RNA	p.Q367K	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1191	-			403					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1099C>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398180	0.42512	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	N	0.20986	0.625	0.21290	N	0.999732	D;D	0.61697	0.99;0.99	D;D	0.63877	0.919;0.919	T	0.09164	-1.0687	9	0.36615	T	0.2	.	7.3989	0.26952	0.0:0.2727:0.7273:0.0	.	405;403	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	367;405;403;367	ENSP00000378881:Q367K;ENSP00000378882:Q405K;ENSP00000364645:Q403K;ENSP00000364646:Q367K	ENSP00000364646:Q367K	Q	-	1	0	ZNF484	94649683	0.537000	0.26386	1.000000	0.80357	0.991000	0.79684	1.521000	0.35910	1.725000	0.51514	0.638000	0.83543	CAG		0.343	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		15	85	1	0	0.000566183	1	0.000568336	15	85				
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:31323241G>A	ENST00000412585.2	-	4	776	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	250	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(748-750)Cag>Tag		major histocompatibility complex, class I, B							112.0	98.0	102.0					6																	31323241		2203	4300	6503	SO:0001587	stop_gained	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323241G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.748C>T	6.37:g.31323241G>A	ENSP00000399168:p.Gln250*						p.Q250*	NM_005514.6	NP_005505.2					4	776	-								Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	c.748C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	12.13	1.844719	0.32606	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	.	.	.	3.16	3.16	0.36331	.	0.000000	0.39834	U	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2525	0.54605	0.0:0.0:1.0:0.0	.	.	.	.	X	250;129;129	.	ENSP00000399168:Q250X	Q	-	1	0	HLA-B	31431220	0.998000	0.40836	0.983000	0.44433	0.035000	0.12851	3.446000	0.52928	1.804000	0.52760	0.442000	0.29010	CAG		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		26	95	0	0	0	1	0	26	95				
FLG	2312	broad.mit.edu	37	1	152275779	152275779	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:152275779G>A	ENST00000368799.1	-	3	11618	c.11583C>T	c.(11581-11583)tcC>tcT	p.S3861S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3861	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTAACACTGGATCCCTGGC	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11581-11583)tcC>tcT		filaggrin							177.0	181.0	180.0					1																	152275779		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275779G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11583C>T	1.37:g.152275779G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3861S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11618	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3861			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11583C>T	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		53	237	0	0	0	1	0	53	237				
ADI1	55256	broad.mit.edu	37	2	3504628	3504628	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:3504628G>A	ENST00000327435.6	-	3	625	c.377C>T	c.(376-378)aCg>aTg	p.T126M	ADI1_ENST00000382093.5_Missense_Mutation_p.T120M	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CGCGGGGAGCGTCACCATGTC	0.617																																						ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(358-360)aCg>aTg		acireductone dioxygenase 1							202.0	154.0	170.0					2																	3504628		2203	4300	6503	SO:0001583	missense	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3504628G>A		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.377C>T	2.37:g.3504628G>A	ENSP00000333666:p.Thr126Met					ADI1_ENST00000327435.6_Missense_Mutation_p.T126M	p.T120M			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	3	3196	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		126						Missense_Mutation	SNP	ENST00000327435.6	37	c.359C>T	CCDS1653.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152350	0.57259	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.73	3.85	0.44370	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.79329	0.4427	M	0.84433	2.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.81931	-0.0707	9	0.72032	D	0.01	-26.3732	11.8569	0.52441	0.0872:0.0:0.9128:0.0	.	126	Q9BV57	MTND_HUMAN	M	126;120	.	ENSP00000333666:T126M	T	-	2	0	ADI1	3483635	1.000000	0.71417	0.077000	0.20336	0.121000	0.20230	7.419000	0.80179	1.111000	0.41721	0.655000	0.94253	ACG		0.617	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		7	23	0	0	0	1	0	7	23				
SIN3B	23309	broad.mit.edu	37	19	16980532	16980532	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:16980532G>A	ENST00000248054.5	+	13	2089	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	SIN3B_ENST00000595541.1_Missense_Mutation_p.G280R|SIN3B_ENST00000379803.1_Missense_Mutation_p.G722R					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCCCCAGGGGCAGACCAC	0.682																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2164-2166)Ggg>Agg		SIN3 transcription regulator family member B							18.0	25.0	23.0					19																	16980532		2202	4296	6498	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16980532G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2068G>A	19.37:g.16980532G>A	ENSP00000248054:p.Gly690Arg					SIN3B_ENST00000595541.1_Missense_Mutation_p.G280R|SIN3B_ENST00000248054.5_Missense_Mutation_p.G690R	p.G722R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			14	2178	+			722						Missense_Mutation	SNP	ENST00000248054.5	37	c.2164G>A		.	.	.	.	.	.	.	.	.	.	G	10.11	1.259434	0.23051	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.44482	0.92;0.92	4.29	3.25	0.37280	.	0.352988	0.28946	N	0.013636	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	P;B;B	0.43477	0.808;0.288;0.021	B;B;B	0.38712	0.28;0.091;0.028	T	0.09058	-1.0692	10	0.19147	T	0.46	-18.6519	8.2953	0.31982	0.1826:0.0:0.8174:0.0	.	280;690;722	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	R	722;690	ENSP00000369131:G722R;ENSP00000248054:G690R	ENSP00000248054:G690R	G	+	1	0	SIN3B	16841532	1.000000	0.71417	0.007000	0.13788	0.423000	0.31445	3.340000	0.52143	0.795000	0.33922	0.313000	0.20887	GGG		0.682	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		5	44	0	0	0	1	0	5	44				
PRKDC	5591	broad.mit.edu	37	8	48761721	48761721	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:48761721C>G	ENST00000314191.2	-	55	7327	c.7271G>C	c.(7270-7272)aGa>aCa	p.R2424T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2424T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2425					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCACCTATGTCTCATGACTTG	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7270-7272)aGa>aCa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							136.0	125.0	128.0					8																	48761721		1928	4138	6066	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48761721C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7271G>C	8.37:g.48761721C>G	ENSP00000313420:p.Arg2424Thr					PRKDC_ENST00000338368.3_Missense_Mutation_p.R2424T|PRKDC_ENST00000523565.1_5'UTR	p.R2424T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			55	7327	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2425					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7271G>C		.	.	.	.	.	.	.	.	.	.	C	10.89	1.479605	0.26511	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64803	-0.12;-0.12	5.12	5.12	0.69794	Armadillo-type fold (1);	0.150888	0.45867	D	0.000333	T	0.44265	0.1285	N	0.25380	0.74	0.28559	N	0.911234	B;B	0.20780	0.048;0.048	B;B	0.17979	0.02;0.013	T	0.25641	-1.0126	10	0.23891	T	0.37	.	7.5019	0.27522	0.0:0.8139:0.0:0.1861	.	2424;2425	E7EUY0;P78527	.;PRKDC_HUMAN	T	2424	ENSP00000313420:R2424T;ENSP00000345182:R2424T	ENSP00000313420:R2424T	R	-	2	0	PRKDC	48924274	0.220000	0.23631	1.000000	0.80357	0.312000	0.27988	0.109000	0.15417	2.363000	0.80096	0.563000	0.77884	AGA		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		23	67	0	0	0	1	0	23	67				
STK25	10494	broad.mit.edu	37	2	242440973	242440973	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:242440973C>T	ENST00000316586.4	-	3	530	c.181G>A	c.(181-183)Gag>Aag	p.E61K	STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.E61K|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.E61K|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000405585.1_Intron	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGATGTCCTCGATCTCATCC	0.572																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(181-183)Gag>Aag		serine/threonine kinase 25							209.0	150.0	170.0					2																	242440973		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242440973C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.181G>A	2.37:g.242440973C>T	ENSP00000325748:p.Glu61Lys					STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.E61K|STK25_ENST00000401869.1_Missense_Mutation_p.E61K|STK25_ENST00000535007.1_5'UTR	p.E61K	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	530	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	61			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.181G>A	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333281	0.81801	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000436402;ENST00000426941;ENST00000420551	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	3.9	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.47948	0.1473	N	0.03917	-0.325	0.80722	D	1	B;D	0.53745	0.317;0.962	B;P	0.48454	0.162;0.578	T	0.64330	-0.6433	10	0.87932	D	0	.	16.7685	0.85529	0.0:1.0:0.0:0.0	.	61;61	B4DZ52;O00506	.;STK25_HUMAN	K	61;61;61;61;61;76	ENSP00000325748:E61K;ENSP00000384162:E61K;ENSP00000385687:E61K;ENSP00000412617:E61K;ENSP00000414191:E61K;ENSP00000404552:E76K	ENSP00000325748:E61K	E	-	1	0	STK25	242089646	1.000000	0.71417	0.993000	0.49108	0.456000	0.32438	7.541000	0.82084	2.084000	0.62774	0.563000	0.77884	GAG		0.572	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		14	38	0	0	0	1	0	14	38				
TROAP	10024	broad.mit.edu	37	12	49725031	49725031	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49725031G>A	ENST00000257909.3	+	14	2209	c.2133G>A	c.(2131-2133)ctG>ctA	p.L711L	TROAP_ENST00000547923.1_Silent_p.L390L|TROAP_ENST00000551245.1_Silent_p.L801L	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	711					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.L711L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTAGCCCTGAGGGAGCGCC	0.577																																						ENST00000551245.1																			1	Substitution - coding silent(1)	p.L711L(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2401-2403)ctG>ctA		trophinin associated protein							56.0	51.0	53.0					12																	49725031		2203	4300	6503	SO:0001819	synonymous_variant	10024				cell adhesion	cytoplasm		g.chr12:49725031G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2133G>A	12.37:g.49725031G>A						TROAP_ENST00000257909.3_Silent_p.L711L|TROAP_ENST00000547923.1_Silent_p.L390L	p.L801L			Q12815	TROAP_HUMAN			13	2514	+			0					F8VSF9|Q6PJU7|Q8N5B2	Silent	SNP	ENST00000257909.3	37	c.2403G>A	CCDS8784.1																																																																																				0.577	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		15	46	0	0	0	1	0	15	46				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	43	0	0	0	1	0	5	43				
PKHD1	5314	broad.mit.edu	37	6	51618085	51618085	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:51618085C>A	ENST00000371117.3	-	57	9139	c.8864G>T	c.(8863-8865)cGa>cTa	p.R2955L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2955L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2955					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTATATTTCGGGTCAACAG	0.458																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(8863-8865)cGa>cTa		polycystic kidney and hepatic disease 1 (autosomal recessive)							103.0	91.0	95.0					6																	51618085		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618085C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8864G>T	6.37:g.51618085C>A	ENSP00000360158:p.Arg2955Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.R2955L	p.R2955L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			57	9139	-	Lung NSC(77;0.0605)		2955					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8864G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521340	0.85600	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.85088	-1.94;-1.94	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000009	D	0.94046	0.8092	M	0.92833	3.35	0.42455	D	0.992765	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.993;0.959;0.999	D	0.94807	0.7975	10	0.87932	D	0	.	18.9407	0.92604	0.0:1.0:0.0:0.0	.	2955;2955;2955	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	2955	ENSP00000360158:R2955L;ENSP00000341097:R2955L	ENSP00000341097:R2955L	R	-	2	0	PKHD1	51726044	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.167000	0.64972	2.719000	0.93026	0.655000	0.94253	CGA		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	79	1	0	9.31168e-06	1	9.60267e-06	14	79				
USP31	57478	broad.mit.edu	37	16	23091426	23091426	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:23091426G>A	ENST00000219689.7	-	13	2016	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	325	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACCACGTGAGGTGTCATGTCC	0.527																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2017-2019)Cct>Tct		ubiquitin specific peptidase 31							124.0	113.0	117.0					16																	23091426		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23091426G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2017C>T	16.37:g.23091426G>A	ENSP00000219689:p.Pro673Ser						p.P673S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	13	2016	-			673					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2017C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888465	0.91814	.	.	ENSG00000103404	ENST00000219689	T	0.26957	1.7	4.91	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.46328	0.1387	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36986	-0.9725	10	0.48119	T	0.1	-12.4539	17.0874	0.86614	0.0:0.0:1.0:0.0	.	673	Q70CQ4	UBP31_HUMAN	S	673	ENSP00000219689:P673S	ENSP00000219689:P673S	P	-	1	0	USP31	22998927	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.426000	0.97469	2.259000	0.74868	0.557000	0.71058	CCT		0.527	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		23	95	0	0	0	1	0	23	95				
TFAP2B	7021	broad.mit.edu	37	6	50807953	50807953	+	Missense_Mutation	SNP	G	G	A	rs372031178		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:50807953G>A	ENST00000393655.3	+	6	1194	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	TFAP2B_ENST00000263046.4_Missense_Mutation_p.R351Q	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	342					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TATTTGAACCGGCAGCACACA	0.512																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1051-1053)cGg>cAg		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							112.0	117.0	115.0					6																	50807953		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807953G>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1025G>A	6.37:g.50807953G>A	ENSP00000377265:p.Arg342Gln					TFAP2B_ENST00000393655.3_Missense_Mutation_p.R342Q	p.R351Q			Q92481	AP2B_HUMAN			7	1218	+	Lung NSC(77;0.156)		342					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1052G>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	36	5.776219	0.96922	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97114	-4.25;-4.25	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.81341	2.54	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.99257	1.0889	10	0.87932	D	0	-14.4836	19.7769	0.96398	0.0:0.0:1.0:0.0	.	342	Q92481	AP2B_HUMAN	Q	342;351	ENSP00000377265:R342Q;ENSP00000263046:R351Q	ENSP00000263046:R351Q	R	+	2	0	TFAP2B	50915912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CGG		0.512	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		26	102	0	0	0	1	0	26	102				
MMP14	4323	broad.mit.edu	37	14	23311907	23311907	+	Silent	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23311907C>G	ENST00000311852.6	+	4	930	c.669C>G	c.(667-669)gtC>gtG	p.V223V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	223					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CTTGGACTGTCAGGAATGAGG	0.557																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(667-669)gtC>gtG		matrix metallopeptidase 14 (membrane-inserted)							92.0	91.0	91.0					14																	23311907		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311907C>G		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.669C>G	14.37:g.23311907C>G						MMP14_ENST00000548162.1_3'UTR	p.V223V	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	930	+	all_cancers(95;9.47e-05)		223					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.669C>G	CCDS9577.1																																																																																				0.557	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		8	81	0	0	0	1	0	8	81				
PNMAL1	55228	broad.mit.edu	37	19	46974119	46974119	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:46974119C>G	ENST00000313683.10	-	2	479	c.174G>C	c.(172-174)aaG>aaC	p.K58N	PNMAL1_ENST00000438932.2_Missense_Mutation_p.K58N|PNMAL1_ENST00000602246.1_Missense_Mutation_p.K58N	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	58										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcacaaaaatcttgttgagca	0.547																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(172-174)aaG>aaC		paraneoplastic Ma antigen family-like 1							72.0	58.0	63.0					19																	46974119		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46974119C>G	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.174G>C	19.37:g.46974119C>G	ENSP00000318131:p.Lys58Asn					PNMAL1_ENST00000602246.1_Missense_Mutation_p.K58N|PNMAL1_ENST00000438932.2_Missense_Mutation_p.K58N	p.K58N	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	479	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	58					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.174G>C	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433222	0.62844	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15372	2.43;2.43	3.8	1.67	0.24075	.	0.165919	0.28828	N	0.014010	T	0.30103	0.0754	M	0.66939	2.045	0.31036	N	0.716925	D;P	0.67145	0.996;0.949	P;P	0.62740	0.906;0.498	T	0.17623	-1.0363	10	0.62326	D	0.03	-17.7461	5.7441	0.18110	0.0:0.7514:0.0:0.2486	.	58;58	Q86V59-2;Q86V59	.;PNML1_HUMAN	N	58	ENSP00000410273:K58N;ENSP00000318131:K58N	ENSP00000318131:K58N	K	-	3	2	PNMAL1	51665959	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	0.884000	0.28214	0.574000	0.29417	-0.221000	0.12465	AAG		0.547	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		6	75	0	0	0	1	0	6	75				
TMEM131	23505	broad.mit.edu	37	2	98543938	98543938	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:98543938G>C	ENST00000186436.5	-	2	428	c.200C>G	c.(199-201)tCa>tGa	p.S67*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.S18*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	67						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATGCTCTCTGACTGAACGAA	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(199-201)tCa>tGa		transmembrane protein 131							73.0	68.0	70.0					2																	98543938		1872	4096	5968	SO:0001587	stop_gained	23505					integral to membrane		g.chr2:98543938G>C	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.200C>G	2.37:g.98543938G>C	ENSP00000186436:p.Ser67*					TMEM131_ENST00000425805.2_Nonsense_Mutation_p.S18*	p.S67*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			2	428	-			67						Nonsense_Mutation	SNP	ENST00000186436.5	37	c.200C>G	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926313	0.73327	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	17.5711	0.87934	0.0:0.0:1.0:0.0	.	.	.	.	X	67;18	.	ENSP00000186436:S67X	S	-	2	0	TMEM131	97910370	1.000000	0.71417	0.955000	0.39395	0.843000	0.47879	5.135000	0.64777	2.687000	0.91594	0.557000	0.71058	TCA		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	25	0	0	0	1	0	5	25				
MAP3K13	9175	broad.mit.edu	37	3	185184677	185184677	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:185184677C>T	ENST00000265026.3	+	10	1903	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	MAP3K13_ENST00000535426.1_Silent_p.I379I|MAP3K13_ENST00000443863.1_Silent_p.I379I|MAP3K13_ENST00000424227.1_Silent_p.I523I|MAP3K13_ENST00000446828.1_Silent_p.I316I	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCGTCCTATCATCCATCCCA	0.483																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1567-1569)atC>atT		mitogen-activated protein kinase kinase kinase 13							149.0	119.0	129.0					3																	185184677		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184677C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1569C>T	3.37:g.185184677C>T						MAP3K13_ENST00000443863.1_Silent_p.I379I|MAP3K13_ENST00000446828.1_Silent_p.I316I|MAP3K13_ENST00000424227.1_Silent_p.I523I|MAP3K13_ENST00000535426.1_Silent_p.I379I	p.I523I	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		10	1903	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		523						Silent	SNP	ENST00000265026.3	37	c.1569C>T	CCDS3270.1																																																																																				0.483	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		19	66	0	0	0	1	0	19	66				
DNAJC14	85406	broad.mit.edu	37	12	56221509	56221509	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56221509C>T	ENST00000357606.3	-	3	1223	c.934G>A	c.(934-936)Ggg>Agg	p.G312R	DNAJC14_ENST00000317287.5_Missense_Mutation_p.G312R|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Missense_Mutation_p.G312R|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	312					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGTAAAACCCCTGGCTTAGA	0.512																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(934-936)Ggg>Agg		DnaJ (Hsp40) homolog, subfamily C, member 14							86.0	81.0	83.0					12																	56221509		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221509C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.934G>A	12.37:g.56221509C>T	ENSP00000350223:p.Gly312Arg					DNAJC14_ENST00000317287.5_Missense_Mutation_p.G312R|DNAJC14_ENST00000317269.3_Missense_Mutation_p.G312R	p.G312R			Q6Y2X3	DJC14_HUMAN			3	1223	-			312					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.934G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081042	0.20309	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.33438	1.41;1.41;1.41	5.18	3.31	0.37934	.	0.910817	0.09274	N	0.824801	T	0.21550	0.0519	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34015	0.435;0.232	B;B	0.35727	0.209;0.209	T	0.24728	-1.0152	9	.	.	.	-4.951	9.4738	0.38858	0.0:0.8204:0.0:0.1796	.	312;312	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	R	312;312;22;312	ENSP00000350223:G312R;ENSP00000316240:G312R;ENSP00000317500:G312R	.	G	-	1	0	DNAJC14	54507776	0.189000	0.23263	0.025000	0.17156	0.527000	0.34593	0.275000	0.18698	0.642000	0.30620	0.655000	0.94253	GGG		0.512	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		24	47	0	0	0	1	0	24	47				
GGCX	2677	broad.mit.edu	37	2	85779543	85779543	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:85779543G>T	ENST00000233838.4	-	10	1515	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	GGCX_ENST00000430215.3_Missense_Mutation_p.Q422K|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	479					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCCCACCTCTGCTGGAAGCGG	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1435-1437)Cag>Aag		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						99.0	101.0	100.0					2																	85779543		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779543G>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1435C>A	2.37:g.85779543G>T	ENSP00000233838:p.Gln479Lys		OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.Q422K	p.Q479K	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			10	1515	-			479					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1435C>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163980	0.78226	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.93019	-3.15;-3.15	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	M	0.88105	2.93	0.80722	D	1	D;P	0.89917	1.0;0.935	D;P	0.87578	0.998;0.739	D	0.97421	1.0009	10	0.87932	D	0	.	12.9243	0.58252	0.0779:0.0:0.9221:0.0	.	422;479	E9PEE1;P38435	.;VKGC_HUMAN	K	479;422	ENSP00000233838:Q479K;ENSP00000408045:Q422K	ENSP00000233838:Q479K	Q	-	1	0	GGCX	85633054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.911000	0.92721	1.535000	0.49220	-0.136000	0.14681	CAG		0.478	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		15	76	1	0	1.52009e-12	1	1.63798e-12	15	76				
C17orf75	64149	broad.mit.edu	37	17	30666951	30666951	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:30666951G>A	ENST00000577809.1	-	3	277	c.228C>T	c.(226-228)tcC>tcT	p.S76S	C17orf75_ENST00000225805.4_Silent_p.S76S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATCTGCCAAGGAGAGGCTTG	0.478																																						ENST00000577809.1																			0				ovary(1)	1						c.(226-228)tcC>tcT		chromosome 17 open reading frame 75							75.0	72.0	73.0					17																	30666951		1928	4152	6080	SO:0001819	synonymous_variant	64149				spermatogenesis			g.chr17:30666951G>A	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.228C>T	17.37:g.30666951G>A						RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.S76S	p.S76S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	277	-		Breast(31;0.116)|Ovarian(249;0.182)	76					Q7Z2H4	Silent	SNP	ENST00000577809.1	37	c.228C>T	CCDS58537.1																																																																																				0.478	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		12	47	0	0	0	1	0	12	47				
MRPL43	84545	broad.mit.edu	37	10	102746724	102746724	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:102746724C>T	ENST00000318325.2	-	3	300	c.247G>A	c.(247-249)Gct>Act	p.A83T	MRPL43_ENST00000342071.1_Missense_Mutation_p.A83T|MRPL43_ENST00000370242.4_Missense_Mutation_p.A83T|MRPL43_ENST00000370236.1_Missense_Mutation_p.A83T|MRPL43_ENST00000370241.3_Missense_Mutation_p.A83T|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000370234.4_Missense_Mutation_p.A83T|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Missense_Mutation_p.A83T|C10orf2_ENST00000311916.2_5'Flank|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000318364.8_Missense_Mutation_p.A83T	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	83					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCGCGCACAGCCCCGTTAACT	0.647																																						ENST00000318325.2																			0				endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4						c.(247-249)Gct>Act		mitochondrial ribosomal protein L43							36.0	32.0	33.0					10																	102746724		2203	4300	6503	SO:0001583	missense	84545				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr10:102746724C>T	AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.247G>A	10.37:g.102746724C>T	ENSP00000315364:p.Ala83Thr					MRPL43_ENST00000370241.3_Missense_Mutation_p.A83T|MRPL43_ENST00000370234.4_Missense_Mutation_p.A83T|MRPL43_ENST00000370242.4_Missense_Mutation_p.A83T|MRPL43_ENST00000370236.1_Missense_Mutation_p.A83T|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000318364.8_Missense_Mutation_p.A83T|MRPL43_ENST00000342071.1_Missense_Mutation_p.A83T|MRPL43_ENST00000299179.5_Missense_Mutation_p.A83T	p.A83T	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	3	300	-		Colorectal(252;0.234)	83					B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	ENST00000318325.2	37	c.247G>A	CCDS7502.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.795|6.795	0.515683|0.515683	0.12944|0.12944	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325;ENST00000370241;ENST00000370242;ENST00000299179;ENST00000342071;ENST00000370236;ENST00000318364;ENST00000370234|ENST00000523148	.|.	.|.	.|.	5.66|5.66	1.1|1.1	0.20463|0.20463	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);|.	0.206623|.	0.49916|.	D|.	0.000123|.	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.11756|0.11756	0.17|0.17	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.26258|.	0.145;0.027;0.012;0.008;0.007;0.023;0.044|.	B;B;B;B;B;B;B|.	0.23419|.	0.044;0.021;0.008;0.004;0.008;0.017;0.046|.	T|T	0.30090|0.30090	-0.9990|-0.9990	9|6	0.15066|0.62326	T|D	0.55|0.03	-16.1129|-16.1129	11.7722|11.7722	0.51965|0.51965	0.4053:0.5307:0.0:0.0639|0.4053:0.5307:0.0:0.0639	.|.	83;83;83;83;83;83;83|.	B1AL06;B1AL05;Q8N983-4;Q8N983-3;Q8N983-2;C9J5Q3;Q8N983|.	.;.;.;.;.;.;RM43_HUMAN|.	T|D	83|39	.|.	ENSP00000299179:A83T|ENSP00000430369:G39D	A|G	-|-	1|2	0|0	MRPL43|MRPL43	102736714|102736714	0.397000|0.397000	0.25270|0.25270	0.461000|0.461000	0.27105|0.27105	0.367000|0.367000	0.29736|0.29736	0.927000|0.927000	0.28818|0.28818	0.048000|0.048000	0.15891|0.15891	-1.357000|-1.357000	0.01221|0.01221	GCT|GGC		0.647	MRPL43-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049902.1			3	30	0	0	0	1	0	3	30				
TTN	7273	broad.mit.edu	37	2	179550270	179550270	+	Missense_Mutation	SNP	C	C	G	rs79232842	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179550270C>G	ENST00000591111.1	-	126	31640	c.31416G>C	c.(31414-31416)aaG>aaC	p.K10472N	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9545N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K10789N			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTCTCTTAGAAATAA	0.358																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(32365-32367)aaG>aaC		titin							101.0	99.0	99.0					2																	179550270		1908	4122	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179550270C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31416G>C	2.37:g.179550270C>G	ENSP00000465570:p.Lys10472Asn					TTN_ENST00000591111.1_Missense_Mutation_p.K10472N|TTN_ENST00000342992.6_Missense_Mutation_p.K9545N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.K10789N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		128	32591	-			10472			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32367G>C		.	.	.	.	.	.	.	.	.	.	C	12.62	1.991418	0.35131	.	.	ENSG00000155657	ENST00000342992	T	0.65549	-0.16	5.95	3.94	0.45596	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57961	0.2089	M	0.67700	2.07	0.80722	D	1	B	0.24963	0.115	B	0.27076	0.076	T	0.61594	-0.7031	9	0.87932	D	0	.	7.0108	0.24861	0.0:0.687:0.0:0.313	.	10472	Q8WZ42	TITIN_HUMAN	N	9545	ENSP00000343764:K9545N	ENSP00000343764:K9545N	K	-	3	2	TTN	179258515	0.197000	0.23362	0.587000	0.28692	0.960000	0.62799	0.163000	0.16520	1.531000	0.49152	0.655000	0.94253	AAG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	21	0	0	0	1	0	3	21				
PAPOLB	56903	broad.mit.edu	37	7	4901301	4901301	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:4901301G>C	ENST00000404991.1	-	1	324	c.138C>G	c.(136-138)ctC>ctG	p.L46L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGAAGGGCCTGAGGGTTTCTA	0.537																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(136-138)ctC>ctG		poly(A) polymerase beta (testis specific)																																				SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901301G>C	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.138C>G	7.37:g.4901301G>C						RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	p.L46L	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	324	-		Ovarian(82;0.0175)	46					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.138C>G																																																																																					0.537	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		5	24	0	0	0	1	0	5	24				
CEP152	22995	broad.mit.edu	37	15	49064753	49064753	+	Silent	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:49064753G>T	ENST00000380950.2	-	13	1900	c.1713C>A	c.(1711-1713)ctC>ctA	p.L571L	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000325747.5_Silent_p.L478L|CEP152_ENST00000399334.3_Silent_p.L571L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	571					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GACAGTCTTTGAGGTCATTTT	0.383																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1711-1713)ctC>ctA		centrosomal protein 152kDa							163.0	149.0	153.0					15																	49064753		1884	4121	6005	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064753G>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1713C>A	15.37:g.49064753G>T						CEP152_ENST00000325747.5_Silent_p.L478L|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.L571L	p.L571L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1900	-		all_lung(180;0.0428)	571					E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.1713C>A	CCDS58361.1																																																																																				0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		32	156	1	0	1.62565e-12	1	1.73753e-12	32	156				
RRP1B	23076	broad.mit.edu	37	21	45107752	45107752	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107752G>C	ENST00000340648.4	+	13	1614	c.1497G>C	c.(1495-1497)caG>caC	p.Q499H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	499					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ACATGTCTCAGAGTGGCCCGA	0.572																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1495-1497)caG>caC		ribosomal RNA processing 1B							47.0	51.0	49.0					21																	45107752		2201	4294	6495	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107752G>C	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1497G>C	21.37:g.45107752G>C	ENSP00000339145:p.Gln499His						p.Q499H	NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1614	+			499					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.1497G>C	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013351	0.35511	.	.	ENSG00000160208	ENST00000340648	T	0.33865	1.39	4.49	-6.29	0.02013	.	0.918302	0.09060	N	0.854451	T	0.16085	0.0387	N	0.24115	0.695	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.16129	-1.0413	10	0.87932	D	0	-0.1179	2.0642	0.03599	0.3419:0.3038:0.2488:0.1055	.	499	Q14684	RRP1B_HUMAN	H	499	ENSP00000339145:Q499H	ENSP00000339145:Q499H	Q	+	3	2	RRP1B	43932180	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.646000	0.05403	-0.869000	0.04052	0.561000	0.74099	CAG		0.572	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		14	58	0	0	0	1	0	14	58				
ARRB2	409	broad.mit.edu	37	17	4623846	4623846	+	Intron	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:4623846A>G	ENST00000269260.2	+	14	1314				ARRB2_ENST00000346341.2_Splice_Site_p.A346A|ARRB2_ENST00000571206.1_Intron|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000574954.1_Intron	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCTTCCAGCACCCACCCCCA	0.617																																						ENST00000346341.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.e13-1		arrestin, beta 2							30.0	33.0	32.0					17																	4623846		2199	4297	6496	SO:0001627	intron_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4623846A>G		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.1082-35A>G	17.37:g.4623846A>G						ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000574954.1_Intron|ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000269260.2_Intron|ARRB2_ENST00000571206.1_Intron	p.A346_splice	NM_001257331.1|NM_199004.1	NP_001244260.1|NP_945355.1	P32121	ARRB2_HUMAN			13	1126	+			360			Interaction with TRAF6.		B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Splice_Site	SNP	ENST00000269260.2	37	c.1036_splice	CCDS11050.1																																																																																				0.617	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		10	27	0	0	0	1	0	10	27				
AES	166	broad.mit.edu	37	19	3054000	3054000	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054000G>C	ENST00000327141.4	-	7	767	c.411C>G	c.(409-411)gcC>gcG	p.A137A	AES_ENST00000592330.1_Intron|AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Silent_p.A81A|AES_ENST00000221561.8_Silent_p.A204A	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	137	Gly/Pro-rich (GP domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGCCAGGGCCTGCAGCT	0.736																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(610-612)gcC>gcG		amino-terminal enhancer of split							8.0	9.0	9.0					19																	3054000		2166	4203	6369	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3054000G>C	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.411C>G	19.37:g.3054000G>C						AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Silent_p.A137A|AES_ENST00000586839.1_Silent_p.A81A	p.A204A	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	791	-		Hepatocellular(1079;0.137)	137					B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.612C>G	CCDS12102.1																																																																																				0.736	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		7	24	0	0	0	1	0	7	24				
OR5K4	403278	broad.mit.edu	37	3	98072987	98072987	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:98072987G>A	ENST00000354924.2	+	1	290	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTGTATGAATGTATGGCACAA	0.453																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(289-291)tGt>tAt		olfactory receptor, family 5, subfamily K, member 4							239.0	247.0	245.0					3																	98072987		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072987G>A		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.290G>A	3.37:g.98072987G>A	ENSP00000347003:p.Cys97Tyr					RP11-325B23.2_ENST00000508616.1_lincRNA	p.C97Y	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	290	+			97						Missense_Mutation	SNP	ENST00000354924.2	37	c.290G>A	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240719	0.58995	.	.	ENSG00000196098	ENST00000354924	T	0.17054	2.3	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35585	U	0.003113	T	0.54695	0.1874	H	0.95780	3.72	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.68985	-0.5265	10	0.87932	D	0	-31.4123	15.6545	0.77124	0.0:0.0:1.0:0.0	.	97	A6NMS3	OR5K4_HUMAN	Y	97	ENSP00000347003:C97Y	ENSP00000347003:C97Y	C	+	2	0	OR5K4	99555677	1.000000	0.71417	0.987000	0.45799	0.478000	0.33099	5.844000	0.69430	2.618000	0.88619	0.603000	0.83216	TGT		0.453	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			10	321	0	0	0	1	0	10	321				
DOCK9	23348	broad.mit.edu	37	13	99532804	99532804	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99532804C>T	ENST00000376460.1	-	26	2948	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	DOCK9_ENST00000448493.2_Silent_p.L968L|DOCK9_ENST00000339416.2_Silent_p.L957L|DOCK9_ENST00000442173.1_Silent_p.L956L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	957					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACATACCTTCAGTAGTTTGT	0.448																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2866-2868)ctG>ctA		dedicator of cytokinesis 9							106.0	104.0	105.0					13																	99532804		2040	4204	6244	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99532804C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2868G>A	13.37:g.99532804C>T						DOCK9_ENST00000339416.2_Silent_p.L957L|DOCK9_ENST00000448493.2_Silent_p.L968L|DOCK9_ENST00000442173.1_Silent_p.L956L	p.L956L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			26	2948	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		957					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2868G>A	CCDS45062.1																																																																																				0.448	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		12	26	0	0	0	1	0	12	26				
GDAP2	54834	broad.mit.edu	37	1	118454640	118454640	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454640C>G	ENST00000369443.5	-	5	784	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	GDAP2_ENST00000369442.3_Missense_Mutation_p.E179Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	179	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTGCATCCTCTAAAGGATAA	0.373																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(535-537)Gag>Cag		ganglioside induced differentiation associated protein 2							110.0	101.0	104.0					1																	118454640		2203	4299	6502	SO:0001583	missense	54834							g.chr1:118454640C>G	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.535G>C	1.37:g.118454640C>G	ENSP00000358451:p.Glu179Gln					GDAP2_ENST00000369442.3_Missense_Mutation_p.E179Q	p.E179Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	5	784	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	179			Macro.		Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.535G>C	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123862	0.94429	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.25085	1.82;1.82	5.22	5.22	0.72569	Appr-1-p processing (2);	0.045450	0.85682	D	0.000000	T	0.32704	0.0838	L	0.48362	1.52	0.80722	D	1	D;D	0.61080	0.989;0.983	P;P	0.58266	0.836;0.812	T	0.01496	-1.1340	10	0.49607	T	0.09	-16.0156	19.0355	0.92976	0.0:1.0:0.0:0.0	.	179;179	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	Q	179	ENSP00000358451:E179Q;ENSP00000358450:E179Q	ENSP00000358450:E179Q	E	-	1	0	GDAP2	118256163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.174000	0.77620	2.725000	0.93324	0.644000	0.83932	GAG		0.373	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		15	67	0	0	0	1	0	15	67				
ZFYVE1	53349	broad.mit.edu	37	14	73491106	73491106	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:73491106G>C	ENST00000556143.1	-	2	831	c.111C>G	c.(109-111)tgC>tgG	p.C37W	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C37W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C37W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	37					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCAGACTGCAGCACTCATCAC	0.562																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(109-111)tgC>tgG		zinc finger, FYVE domain containing 1							101.0	89.0	93.0					14																	73491106		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491106G>C	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.111C>G	14.37:g.73491106G>C	ENSP00000450742:p.Cys37Trp					ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C37W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C37W	p.C37W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	831	-		all_lung(585;1.33e-09)	37					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.111C>G	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295618	0.40594	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.75367	-0.93;-0.43;-0.42	5.66	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.75701	-0.3226	10	0.87932	D	0	-18.1659	8.0393	0.30513	0.3558:0.0:0.6442:0.0	.	37;37	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	37	ENSP00000452442:C37W;ENSP00000326921:C37W;ENSP00000450742:C37W	ENSP00000326921:C37W	C	-	3	2	ZFYVE1	72560859	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	0.952000	0.29149	0.514000	0.28300	0.585000	0.79938	TGC		0.562	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		22	71	0	0	0	1	0	22	71				
MGA	23269	broad.mit.edu	37	15	42003184	42003184	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:42003184C>T	ENST00000570161.1	+	7	2721	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	MGA_ENST00000219905.7_Silent_p.F907F|MGA_ENST00000545763.1_Silent_p.F907F|MGA_ENST00000389936.4_Silent_p.F907F|MGA_ENST00000566586.1_Silent_p.F907F			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCAACTTTCAGTGGCCGAA	0.398																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2719-2721)ttC>ttT		MGA, MAX dimerization protein							140.0	139.0	139.0					15																	42003184		1854	4097	5951	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003184C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2721C>T	15.37:g.42003184C>T						MGA_ENST00000566586.1_Silent_p.F907F|MGA_ENST00000570161.1_Silent_p.F907F|MGA_ENST00000545763.1_Silent_p.F907F|MGA_ENST00000389936.4_Silent_p.F907F	p.F907F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2902	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	907					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.2721C>T	CCDS55959.1																																																																																				0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	152	0	0	0	1	0	22	152				
IKBKAP	8518	broad.mit.edu	37	9	111665870	111665870	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:111665870C>T	ENST00000374647.5	-	15	2030	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D226N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	575					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATCTGGCCATCAGCCAGCTGT	0.403																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1723-1725)Gat>Aat		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							123.0	107.0	112.0					9																	111665870		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111665870C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1723G>A	9.37:g.111665870C>T	ENSP00000363779:p.Asp575Asn					IKBKAP_ENST00000537196.1_Missense_Mutation_p.D226N	p.D575N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			15	2030	-			575					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.1723G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795741	0.70452	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.31510	1.49;1.49	5.75	5.75	0.90469	.	0.101250	0.64402	D	0.000003	T	0.27731	0.0682	L	0.33485	1.01	0.39040	D	0.9601	B	0.31209	0.313	B	0.36092	0.217	T	0.08006	-1.0743	10	0.21014	T	0.42	-9.1956	15.4491	0.75259	0.0:1.0:0.0:0.0	.	575	O95163	ELP1_HUMAN	N	575;226	ENSP00000363779:D575N;ENSP00000439367:D226N	ENSP00000363779:D575N	D	-	1	0	IKBKAP	110705691	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.438000	0.73426	2.706000	0.92434	0.655000	0.94253	GAT		0.403	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			41	144	0	0	0	1	0	41	144				
NEDD4	4734	broad.mit.edu	37	15	56126259	56126259	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:56126259G>C	ENST00000508342.1	-	22	3963	c.3664C>G	c.(3664-3666)Cag>Gag	p.Q1222E	NEDD4_ENST00000435532.3_Missense_Mutation_p.Q803E|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1150E|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1206E	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1222	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTATAACCTGATGATTTGCA	0.323																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3664-3666)Cag>Gag		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							149.0	136.0	140.0					15																	56126259		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56126259G>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3664C>G	15.37:g.56126259G>C	ENSP00000424827:p.Gln1222Glu					NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1150E|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1206E|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q803E	p.Q1222E			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	22	3963	-			1222			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3664C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.076|6.076	0.382312|0.382312	0.11524|0.11524	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.55588	.|0.51;0.51;0.51;0.51	5.54|5.54	5.54|5.54	0.83059|0.83059	.|HECT (4);	.|0.453334	.|0.25971	.|N	.|0.027139	T|T	0.47395|0.47395	0.1443|0.1443	N|N	0.25789|0.25789	0.76|0.76	0.46798|0.46798	D|D	0.9992|0.9992	.|B;B;P;B	.|0.46277	.|0.112;0.323;0.875;0.054	.|B;B;P;B	.|0.45377	.|0.024;0.106;0.478;0.02	T|T	0.35101|0.35101	-0.9802|-0.9802	5|10	.|0.29301	.|T	.|0.29	.|.	18.4774|18.4774	0.90798|0.90798	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1206;803;1222;1150	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	M|E	812|1222;803;1150;1206	.|ENSP00000424827:Q1222E;ENSP00000410613:Q803E;ENSP00000345530:Q1150E;ENSP00000422705:Q1206E	.|ENSP00000345530:Q1150E	I|Q	-|-	3|1	3|0	NEDD4|NEDD4	53913551|53913551	1.000000|1.000000	0.71417|0.71417	0.798000|0.798000	0.32154|0.32154	0.922000|0.922000	0.55478|0.55478	4.600000|4.600000	0.61083|0.61083	2.590000|2.590000	0.87494|0.87494	0.650000|0.650000	0.86243|0.86243	ATC|CAG		0.323	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		20	98	0	0	0	1	0	20	98				
GON4L	54856	broad.mit.edu	37	1	155730332	155730332	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:155730332A>C	ENST00000368331.1	-	24	5060	c.5012T>G	c.(5011-5013)cTc>cGc	p.L1671R	GON4L_ENST00000437809.1_Missense_Mutation_p.L1671R|GON4L_ENST00000271883.5_Missense_Mutation_p.L1671R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1671	PAH 1. {ECO:0000255|PROSITE- ProRule:PRU00810}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTTTTGTAGAGATCTACAGC	0.473																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(5011-5013)cTc>cGc		gon-4-like (C. elegans)							116.0	111.0	113.0					1																	155730332		1861	4114	5975	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155730332A>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5012T>G	1.37:g.155730332A>C	ENSP00000357315:p.Leu1671Arg					GON4L_ENST00000271883.5_Missense_Mutation_p.L1671R|GON4L_ENST00000368331.1_Missense_Mutation_p.L1671R	p.L1671R			Q3T8J9	GON4L_HUMAN			24	5134	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1671			PAH 1.		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.5012T>G		.	.	.	.	.	.	.	.	.	.	A	26.3	4.724842	0.89298	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.37058	1.22;1.22;1.22	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000008	T	0.40247	0.1109	L	0.34521	1.04	0.49687	D	0.999817	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.77557	0.906;0.99;0.984	T	0.42189	-0.9466	10	0.87932	D	0	.	14.9692	0.71220	1.0:0.0:0.0:0.0	.	867;1671;1671	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	R	1671	ENSP00000396117:L1671R;ENSP00000357315:L1671R;ENSP00000271883:L1671R	ENSP00000271883:L1671R	L	-	2	0	GON4L	153996956	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.783000	0.91813	2.194000	0.70268	0.528000	0.53228	CTC		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		4	146	0	0	0	1	0	4	146				
KEAP1	9817	broad.mit.edu	37	19	10602303	10602303	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:10602303G>C	ENST00000171111.5	-	3	1822	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I425M|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	425					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGACGGCATAGATGTGGCCAT	0.662																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1273-1275)atC>atG		kelch-like ECH-associated protein 1							28.0	25.0	26.0					19																	10602303		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602303G>C	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1275C>G	19.37:g.10602303G>C	ENSP00000171111:p.Ile425Met					KEAP1_ENST00000393623.2_Missense_Mutation_p.I425M	p.I425M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1822	-			425					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1275C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999451	0.54147	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.85171	-1.95;-1.95	5.77	4.74	0.60224	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	M	0.66939	2.045	0.51482	D	0.999925	D	0.55800	0.973	P	0.58820	0.846	D	0.86544	0.1830	10	0.25106	T	0.35	.	12.5307	0.56113	0.0807:0.0:0.9193:0.0	.	425	Q14145	KEAP1_HUMAN	M	425	ENSP00000171111:I425M;ENSP00000377245:I425M	ENSP00000171111:I425M	I	-	3	3	KEAP1	10463303	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.520000	0.35899	1.452000	0.47756	0.655000	0.94253	ATC		0.662	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	18	0	0	0	1	0	6	18				
PIRT	644139	broad.mit.edu	37	17	10728737	10728737	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:10728737C>T	ENST00000580256.2	-	2	864	c.226G>A	c.(226-228)Gcc>Acc	p.A76T		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						AAGGTGTAGGCCAAGCAGGTG	0.567																																						ENST00000580256.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(226-228)Gcc>Acc		phosphoinositide-interacting regulator of transient receptor potential channels							88.0	91.0	90.0					17																	10728737		2128	4232	6360	SO:0001583	missense	644139					integral to membrane		g.chr17:10728737C>T	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.226G>A	17.37:g.10728737C>T	ENSP00000462046:p.Ala76Thr						p.A76T	NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN			2	864	-			76					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.226G>A	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843932	0.51164	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	4.44	0.53790	.	.	.	.	.	T	0.26448	0.0646	N	0.24115	0.695	0.29894	N	0.824954	P	0.36633	0.562	B	0.35413	0.202	T	0.03887	-1.0995	8	0.13470	T	0.59	-24.7082	10.5493	0.45079	0.2051:0.7949:0.0:0.0	.	76	P0C851	PIRT_HUMAN	T	76	.	ENSP00000408936:A76T	A	-	1	0	PIRT	10669462	0.994000	0.37717	1.000000	0.80357	0.838000	0.47535	0.394000	0.20834	2.840000	0.97914	0.655000	0.94253	GCC		0.567	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		6	62	0	0	0	1	0	6	62				
HSP90AB1	3326	broad.mit.edu	37	6	44221252	44221252	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:44221252G>C	ENST00000371554.1	+	12	2306	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E698Q|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E698Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	698					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGGCAGCAGAGGAACCCAA	0.463											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2092-2094)Gag>Cag		heat shock protein 90kDa alpha (cytosolic), class B member 1							72.0	73.0	73.0					6																	44221252		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221252G>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2092G>C	6.37:g.44221252G>C	ENSP00000360609:p.Glu698Gln		OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E698Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E698Q	p.E698Q			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	2306	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		698					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.2092G>C	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041599	0.75732	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.12039	2.72;2.72;2.72	4.43	3.54	0.40534	.	0.079197	0.49305	U	0.000152	T	0.15478	0.0373	M	0.76574	2.34	0.80722	D	1	B;B;P	0.45212	0.324;0.205;0.853	P;B;B	0.50162	0.633;0.098;0.435	T	0.00587	-1.1657	10	0.48119	T	0.1	-23.6993	10.6649	0.45723	0.1571:0.0:0.8429:0.0	.	660;688;698	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	Q	698	ENSP00000360709:E698Q;ENSP00000325875:E698Q;ENSP00000360609:E698Q	ENSP00000325875:E698Q	E	+	1	0	HSP90AB1	44329230	1.000000	0.71417	0.968000	0.41197	0.896000	0.52359	6.691000	0.74573	2.188000	0.69820	0.609000	0.83330	GAG		0.463	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		13	60	0	0	0	1	0	13	60				
LRRC7	57554	broad.mit.edu	37	1	70300527	70300527	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:70300527G>C	ENST00000035383.5	+	4	481	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	LRRC7_ENST00000370958.1_Missense_Mutation_p.E189Q|LRRC7_ENST00000310961.5_Missense_Mutation_p.E156Q|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	151						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCCTTTCTTGAATTTCTTCC	0.383																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(466-468)Gaa>Caa		leucine rich repeat containing 7							133.0	126.0	128.0					1																	70300527		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70300527G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.451G>C	1.37:g.70300527G>C	ENSP00000035383:p.Glu151Gln					LRRC7_ENST00000370958.1_Missense_Mutation_p.E189Q|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.E151Q	p.E156Q			Q96NW7	LRRC7_HUMAN			7	884	+			151					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.466G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775500	0.49786	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.52983	1.82;0.64;1.81	5.28	4.37	0.52481	.	0.051763	0.85682	D	0.000000	T	0.30823	0.0777	N	0.16037	0.36	0.80722	D	1	D;D	0.69078	0.997;0.985	D;P	0.68765	0.96;0.793	T	0.12268	-1.0554	10	0.09843	T	0.71	.	12.7953	0.57556	0.0801:0.0:0.9199:0.0	.	151;189	Q96NW7;B1AKT2	LRRC7_HUMAN;.	Q	156;189;151;151	ENSP00000309245:E156Q;ENSP00000359997:E189Q;ENSP00000035383:E151Q	ENSP00000035383:E151Q	E	+	1	0	LRRC7	70073115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.154000	0.94694	1.365000	0.46057	0.655000	0.94253	GAA		0.383	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		16	71	0	0	0	1	0	16	71				
KLF8	11279	broad.mit.edu	37	X	56310859	56310859	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:56310859G>C	ENST00000468660.1	+	6	1300	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TCGGTGCACAGACTGCAACCG	0.562																																						ENST00000468660.1																			0				kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						c.(1012-1014)Gac>Cac		Kruppel-like factor 8							76.0	61.0	66.0					X																	56310859		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56310859G>C	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.1012G>C	X.37:g.56310859G>C	ENSP00000417303:p.Asp338His					KLF8_ENST00000374928.3_3'UTR	p.D338H	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN			6	1300	+			338					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.1012G>C	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.322976	0.41096	.	.	ENSG00000102349	ENST00000468660	T	0.35973	1.28	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072248	0.56097	D	0.000028	T	0.34250	0.0891	N	0.04746	-0.17	0.80722	D	1	D	0.63880	0.993	D	0.64321	0.924	T	0.33497	-0.9866	10	0.38643	T	0.18	.	13.3786	0.60754	0.0:0.0:1.0:0.0	.	338	O95600	KLF8_HUMAN	H	338	ENSP00000417303:D338H	ENSP00000417303:D338H	D	+	1	0	KLF8	56327584	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	9.036000	0.93758	1.938000	0.56188	0.597000	0.82753	GAC		0.562	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		8	37	0	0	0	1	0	8	37				
BAHCC1	57597	broad.mit.edu	37	17	79425896	79425896	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:79425896G>C	ENST00000307745.7	+	24	5506	c.5506G>C	c.(5506-5508)Gag>Cag	p.E1836Q	RP11-1055B8.8_ENST00000572590.1_RNA																							GGAAGACTTTGAGTTCGACGA	0.672																																						ENST00000307745.7																			0											c.(5506-5508)Gag>Cag									19.0	25.0	23.0					17																	79425896		2144	4247	6391	SO:0001583	missense	57597							g.chr17:79425896G>C																												ENST00000307745.7:c.5506G>C	17.37:g.79425896G>C	ENSP00000303486:p.Glu1836Gln						p.E1836Q							24	5506	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.5506G>C		.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033021	0.02029	.	.	ENSG00000171282	ENST00000307745	T	0.12672	2.66	3.69	1.59	0.23543	.	0.993015	0.08158	U	0.988951	T	0.11410	0.0278	L	0.40543	1.245	0.22982	N	0.998477	B;B	0.18610	0.017;0.029	B;B	0.19391	0.006;0.025	T	0.42189	-0.9466	10	0.22109	T	0.4	.	6.7189	0.23318	0.1006:0.3432:0.5562:0.0	.	1836;1836	Q9P281;F8WBW8	BAHC1_HUMAN;.	Q	1836	ENSP00000303486:E1836Q	ENSP00000303486:E1836Q	E	+	1	0	AC110285.1	77040491	0.005000	0.15991	0.004000	0.12327	0.027000	0.11550	1.626000	0.37039	0.164000	0.19529	0.455000	0.32223	GAG		0.672	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	25	0	0	0	1	0	3	25				
SH3KBP1	30011	broad.mit.edu	37	X	19560228	19560228	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:19560228C>T	ENST00000397821.3	-	16	1997	c.1707G>A	c.(1705-1707)gcG>gcA	p.A569A	SH3KBP1_ENST00000541422.1_Silent_p.A308A|SH3KBP1_ENST00000379698.4_Silent_p.A532A|SH3KBP1_ENST00000379716.1_Silent_p.A331A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	569					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGGAGGGCGCCGCTGAGGACA	0.642																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1705-1707)gcG>gcA		SH3-domain kinase binding protein 1							44.0	44.0	44.0					X																	19560228		2203	4300	6503	SO:0001819	synonymous_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560228C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1707G>A	X.37:g.19560228C>T						SH3KBP1_ENST00000541422.1_Silent_p.A308A|SH3KBP1_ENST00000379698.4_Silent_p.A532A|SH3KBP1_ENST00000379716.1_Silent_p.A331A	p.A569A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			16	1997	-			569					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	c.1707G>A	CCDS14193.1																																																																																				0.642	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		7	64	0	0	0	1	0	7	64				
GOLGA3	2802	broad.mit.edu	37	12	133384784	133384784	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:133384784G>A	ENST00000450791.2	-	4	1054	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	GOLGA3_ENST00000204726.3_Missense_Mutation_p.P291S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P291S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P291S			Q08378	GOGA3_HUMAN	golgin A3	291					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGTGTCGGGGGACAGGCTG	0.587																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(871-873)Ccc>Tcc		golgin A3							117.0	118.0	117.0					12																	133384784		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384784G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.871C>T	12.37:g.133384784G>A	ENSP00000410378:p.Pro291Ser					GOLGA3_ENST00000545875.1_Missense_Mutation_p.P291S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P291S	p.P291S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1429	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	291					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.871C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	0.270	-0.993348	0.02145	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.32	3.44	0.39384	.	0.571829	0.19711	N	0.107819	T	0.14960	0.0361	N	0.20401	0.57	0.22479	N	0.999066	B;B;B	0.13594	0.008;0.004;0.006	B;B;B	0.12156	0.007;0.005;0.003	T	0.30031	-0.9992	10	0.05721	T	0.95	.	7.6818	0.28518	0.2703:0.0:0.7297:0.0	.	291;291;291	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	291	ENSP00000204726:P291S;ENSP00000410378:P291S;ENSP00000409303:P291S;ENSP00000442143:P291S;ENSP00000442603:P291S	ENSP00000204726:P291S	P	-	1	0	GOLGA3	131894857	0.961000	0.32948	0.023000	0.16930	0.010000	0.07245	2.662000	0.46766	1.351000	0.45789	0.650000	0.86243	CCC		0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		29	96	0	0	0	1	0	29	96				
SYNE1	23345	broad.mit.edu	37	6	152728177	152728177	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:152728177C>T	ENST00000367255.5	-	45	7296	c.6695G>A	c.(6694-6696)aGa>aAa	p.R2232K	SYNE1_ENST00000265368.4_Missense_Mutation_p.R2232K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2269K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R2239K|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2239K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2232					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCAGCTCTGAGGTGGTT	0.408										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6694-6696)aGa>aAa		spectrin repeat containing, nuclear envelope 1							151.0	131.0	137.0					6																	152728177		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152728177C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6695G>A	6.37:g.152728177C>T	ENSP00000356224:p.Arg2232Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R2239K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2269K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R2232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2239K	p.R2232K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	45	7296	-		Ovarian(120;0.0955)	2232					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6695G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.815	0.519422	0.13005	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.46819	1.38;1.38;1.38;1.38;0.86	5.3	-2.88	0.05682	.	0.462816	0.22077	N	0.064959	T	0.05181	0.0138	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.38929	-0.9638	10	0.06099	T	0.92	.	13.6118	0.62083	0.0:0.2694:0.0:0.7306	.	2215;2232;2232;2239	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2232;2239;2232;2239;2269	ENSP00000356224:R2232K;ENSP00000396024:R2239K;ENSP00000265368:R2232K;ENSP00000390975:R2239K;ENSP00000341887:R2269K	ENSP00000265368:R2232K	R	-	2	0	SYNE1	152769870	0.006000	0.16342	0.000000	0.03702	0.188000	0.23474	0.254000	0.18314	-0.680000	0.05211	0.561000	0.74099	AGA		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	76	0	0	0	1	0	14	76				
GADD45A	1647	broad.mit.edu	37	1	68152040	68152040	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:68152040G>C	ENST00000370986.4	+	3	588	c.154G>C	c.(154-156)Gat>Cat	p.D52H	GADD45A_ENST00000370985.3_Missense_Mutation_p.D18H|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	52					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)			lung(2)|ovary(2)	4						CAGCGACCCCGATAACGTGGT	0.701																																						ENST00000370986.4																			0				lung(2)|ovary(2)	4						c.(154-156)Gat>Cat		growth arrest and DNA-damage-inducible, alpha							21.0	22.0	22.0					1																	68152040		2203	4300	6503	SO:0001583	missense	1647				apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	g.chr1:68152040G>C	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	ENST00000370986.4:c.154G>C	1.37:g.68152040G>C	ENSP00000360025:p.Asp52His					GADD45A_ENST00000370985.3_Missense_Mutation_p.D18H|GADD45A_ENST00000460575.1_3'UTR	p.D52H	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN			3	588	+			52					Q5TCA7|Q5TCA8	Missense_Mutation	SNP	ENST00000370986.4	37	c.154G>C	CCDS640.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819353	0.71028	.	.	ENSG00000116717	ENST00000370986;ENST00000370985	T;T	0.44482	0.92;0.92	5.35	5.35	0.76521	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.56792	-0.7920	10	0.87932	D	0	-10.6617	17.8358	0.88696	0.0:0.0:1.0:0.0	.	18;52	Q5TCA7;P24522	.;GA45A_HUMAN	H	52;18	ENSP00000360025:D52H;ENSP00000360024:D18H	ENSP00000360024:D18H	D	+	1	0	GADD45A	67924628	1.000000	0.71417	0.324000	0.25361	0.445000	0.32107	9.328000	0.96403	2.506000	0.84524	0.313000	0.20887	GAT		0.701	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025988.2	NM_001924		5	44	0	0	0	1	0	5	44				
FBXW10	10517	broad.mit.edu	37	17	18678497	18678497	+	Missense_Mutation	SNP	G	G	A	rs375352795		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:18678497G>A	ENST00000395665.4	+	13	2548	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	FBXW10_ENST00000308799.4_Intron|FBXW10_ENST00000301938.4_Missense_Mutation_p.R723Q|FBXW10_ENST00000395667.1_Missense_Mutation_p.R776Q			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	776										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAATCACCCCGAAGAGATGGT	0.413																																						ENST00000395667.1																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2326-2328)cGa>cAa		F-box and WD repeat domain containing 10		G	GLN/ARG	2,3708		0,2,1853	84.0	76.0	79.0		2327	-7.2	0.0	17		79	0,8226		0,0,4113	no	missense	FBXW10	NM_031456.3	43	0,2,5966	AA,AG,GG		0.0,0.0539,0.0168	possibly-damaging	776/1052	18678497	2,11934	1855	4113	5968	SO:0001583	missense	10517							g.chr17:18678497G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2327G>A	17.37:g.18678497G>A	ENSP00000379025:p.Arg776Gln					FBXW10_ENST00000308799.4_Intron|FBXW10_ENST00000301938.4_Missense_Mutation_p.R723Q|FBXW10_ENST00000395665.4_Missense_Mutation_p.R776Q	p.R776Q	NM_001267585.1	NP_001254514.1	Q5XX13	FBW10_HUMAN			13	2559	+			776					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2327G>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	3.757	-0.050428	0.07407	5.39E-4	0.0	ENSG00000171931	ENST00000395667;ENST00000301938;ENST00000395665	T;T;T	0.60040	0.25;0.22;0.36	4.3	-7.16	0.01516	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.017;0.01;0.017	B;B;B	0.08055	0.003;0.001;0.002	T	0.18398	-1.0338	9	0.13470	T	0.59	.	3.7685	0.08632	0.5751:0.1202:0.1828:0.1219	.	723;776;776	Q5XX13-3;Q5XX13;Q5XX13-4	.;FBW10_HUMAN;.	Q	776;723;776	ENSP00000379026:R776Q;ENSP00000306937:R723Q;ENSP00000379025:R776Q	ENSP00000306937:R723Q	R	+	2	0	FBXW10	18619222	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.184000	0.09698	-1.506000	0.01805	-1.829000	0.00594	CGA		0.413	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		10	35	0	0	0	1	0	10	35				
KBTBD4	55709	broad.mit.edu	37	11	47595145	47595145	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:47595145C>T	ENST00000526005.1	-	4	1047	c.894G>A	c.(892-894)atG>atA	p.M298I	KBTBD4_ENST00000395288.2_Missense_Mutation_p.M298I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Missense_Mutation_p.M323I|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000430070.2_Missense_Mutation_p.M314I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	298										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGCACTTCCACATGCGCCGTG	0.587																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(967-969)atG>atA		kelch repeat and BTB (POZ) domain containing 4							92.0	65.0	74.0					11																	47595145		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47595145C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.894G>A	11.37:g.47595145C>T	ENSP00000433340:p.Met298Ile					KBTBD4_ENST00000526005.1_Missense_Mutation_p.M298I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.M298I|KBTBD4_ENST00000430070.2_Missense_Mutation_p.M314I	p.M323I			Q9NVX7	KBTB4_HUMAN			3	1683	-			298					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.969G>A	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492300	0.84962	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.72	5.72	0.89469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.38175	1.15	0.80722	D	1	D;P;P	0.57257	0.979;0.924;0.842	P;P;P	0.53401	0.725;0.535;0.481	T	0.59215	-0.7496	10	0.24483	T	0.36	-26.8219	19.8751	0.96867	0.0:1.0:0.0:0.0	.	314;298;323	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	I	298;323;298;307;314	ENSP00000433340:M298I;ENSP00000436713:M323I;ENSP00000378703:M298I;ENSP00000415106:M314I	ENSP00000352971:M307I	M	-	3	0	KBTBD4	47551721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.485000	0.81204	2.695000	0.91970	0.655000	0.94253	ATG		0.587	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		9	78	0	0	0	1	0	9	78				
DUS2	54920	broad.mit.edu	37	16	68104954	68104954	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:68104954C>G	ENST00000565263.1	+	12	1247	c.753C>G	c.(751-753)atC>atG	p.I251M	DUS2_ENST00000432752.1_Missense_Mutation_p.I216M|DUS2_ENST00000358896.6_Missense_Mutation_p.I251M	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	251					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										ACCCATCTATCTTCCTCAAGG	0.507																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(751-753)atC>atG									93.0	88.0	90.0					16																	68104954		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68104954C>G		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.753C>G	16.37:g.68104954C>G	ENSP00000455229:p.Ile251Met					DUS2L_ENST00000432752.1_Missense_Mutation_p.I216M|DUS2L_ENST00000358896.6_Missense_Mutation_p.I251M	p.I251M	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	12	1247	+		Ovarian(137;0.192)	251					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.753C>G	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967468	0.53507	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.30981	1.51;1.51	5.43	0.142	0.14816	Aldolase-type TIM barrel (1);	0.197166	0.46758	D	0.000269	T	0.40272	0.1110	M	0.73962	2.25	0.49213	D	0.99976	P;P	0.43231	0.801;0.801	P;P	0.52189	0.692;0.617	T	0.10730	-1.0617	10	0.36615	T	0.2	-6.635	7.2972	0.26399	0.1121:0.6261:0.0:0.2618	.	216;251	E7EUN9;Q9NX74	.;DUS2L_HUMAN	M	251;216	ENSP00000351769:I251M;ENSP00000409498:I216M	ENSP00000351769:I251M	I	+	3	3	DUS2L	66662455	1.000000	0.71417	0.962000	0.40283	0.803000	0.45373	0.855000	0.27805	-0.333000	0.08476	-2.600000	0.00162	ATC		0.507	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		29	87	0	0	0	1	0	29	87				
MON1B	22879	broad.mit.edu	37	16	77228398	77228398	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228398G>T	ENST00000248248.3	+	4	992	c.642G>T	c.(640-642)caG>caT	p.Q214H	MON1B_ENST00000545553.1_Missense_Mutation_p.Q68H|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACACAAGCAGAACTATGACC	0.627																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(640-642)caG>caT		MON1 secretory trafficking family member B							88.0	81.0	83.0					16																	77228398		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77228398G>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.642G>T	16.37:g.77228398G>T	ENSP00000248248:p.Gln214His					MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68H|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105H	p.Q214H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN			4	992	+			214					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.642G>T	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865497	0.71949	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.49	3.53	0.40419	.	0.099373	0.64402	D	0.000003	T	0.68339	0.2990	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.69078	0.99;0.997;0.994;0.99	P;D;D;P	0.67103	0.9;0.949;0.949;0.9	T	0.69807	-0.5045	9	0.59425	D	0.04	.	10.884	0.46955	0.0959:0.0:0.9041:0.0	.	68;105;94;214	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	H	214;105;68	.	ENSP00000248248:Q214H	Q	+	3	2	MON1B	75785899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.195000	0.51013	1.198000	0.43158	0.561000	0.74099	CAG		0.627	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		24	79	1	0	2.98393e-07	1	3.11367e-07	24	79				
HEATR6	63897	broad.mit.edu	37	17	58121213	58121213	+	Missense_Mutation	SNP	G	G	A	rs533357378		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:58121213G>A	ENST00000184956.6	-	20	3273	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	AC005702.1_ENST00000581326.1_RNA|AC005702.3_ENST00000582298.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.S974L|AC005702.2_ENST00000577558.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.4_ENST00000583144.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1086							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGGAGGTCCGAGGCACTGGC	0.463													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21620	0.0		0.0	False		,,,				2504	0.0					ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3256-3258)tCg>tTg		HEAT repeat containing 6							107.0	110.0	109.0					17																	58121213		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58121213G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3257C>T	17.37:g.58121213G>A	ENSP00000184956:p.Ser1086Leu					HEATR6_ENST00000585976.1_Missense_Mutation_p.S974L	p.S1086L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3273	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1086					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.3257C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881982	0.33255	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.64438	-0.1	5.15	3.18	0.36537	Armadillo-like helical (1);Armadillo-type fold (1);	0.468602	0.23199	N	0.050813	T	0.54013	0.1832	L	0.55481	1.735	0.09310	N	1	D;P	0.54397	0.966;0.824	B;B	0.43838	0.433;0.089	T	0.49163	-0.8968	10	0.45353	T	0.12	-6.1104	6.2738	0.20969	0.1542:0.0:0.6983:0.1475	.	821;1086	E7ESB9;Q6AI08	.;HEAT6_HUMAN	L	1086;821	ENSP00000184956:S1086L	ENSP00000184956:S1086L	S	-	2	0	HEATR6	55475995	0.314000	0.24563	0.956000	0.39512	0.203000	0.24098	2.930000	0.48924	0.700000	0.31782	-0.143000	0.13931	TCG		0.463	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		30	84	0	0	0	1	0	30	84				
SPTAN1	6709	broad.mit.edu	37	9	131339216	131339216	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131339216G>A	ENST00000372731.4	+	6	876	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E256K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E256K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	256					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGGGCAGCAGAAGTTCAGCG	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(766-768)Gaa>Aaa		spectrin, alpha, non-erythrocytic 1							65.0	67.0	67.0					9																	131339216		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339216G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.766G>A	9.37:g.131339216G>A	ENSP00000361816:p.Glu256Lys					SPTAN1_ENST00000372731.4_Missense_Mutation_p.E256K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E256K	p.E256K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			6	876	+			256					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.766G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333350	0.95758	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.34667	1.35;1.35;1.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	L	0.61218	1.895	0.80722	D	1	P;D;P;B;D	0.60160	0.82;0.979;0.937;0.144;0.987	P;D;P;B;P	0.74023	0.618;0.982;0.805;0.31;0.9	T	0.53961	-0.8364	10	0.48119	T	0.1	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	256;256;256;256;256	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	256	ENSP00000350882:E256K;ENSP00000361816:E256K;ENSP00000361824:E256K	ENSP00000350882:E256K	E	+	1	0	SPTAN1	130379037	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GAA		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		12	68	0	0	0	1	0	12	68				
GRIP1	23426	broad.mit.edu	37	12	66935696	66935696	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:66935696C>T	ENST00000398016.3	-	3	239	c.171G>A	c.(169-171)atG>atA	p.M57I	GRIP1_ENST00000359742.4_Missense_Mutation_p.M57I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M57I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCCTTCTTCATCAGCTCGA	0.458																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(169-171)atG>atA		glutamate receptor interacting protein 1							238.0	232.0	234.0					12																	66935696		1915	4124	6039	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66935696C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.171G>A	12.37:g.66935696C>T	ENSP00000381098:p.Met57Ile					GRIP1_ENST00000398016.3_Missense_Mutation_p.M57I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M57I	p.M57I			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	3	411	-			57			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.171G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	4.755	0.140321	0.09083	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947;ENST00000538373	T;T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;2.5;2.49;1.73;2.47;2.49;1.73	5.36	5.36	0.76844	PDZ/DHR/GLGF (3);	0.083871	0.85682	D	0.000000	T	0.13543	0.0328	N	0.03194	-0.395	0.58432	D	0.999991	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.0	T	0.16217	-1.0410	9	.	.	.	-27.6559	19.4655	0.94935	0.0:1.0:0.0:0.0	.	57;57;57	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	I	57;57;57;57;1;1;30;1;1;83;1	ENSP00000381098:M57I;ENSP00000352780:M57I;ENSP00000286445:M57I;ENSP00000446047:M57I;ENSP00000446024:M1I;ENSP00000446011:M1I;ENSP00000439124:M30I;ENSP00000438500:M1I;ENSP00000443392:M1I;ENSP00000438921:M83I	.	M	-	3	0	GRIP1	65221963	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	3.239000	0.51360	2.698000	0.92095	0.655000	0.94253	ATG		0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			33	150	0	0	0	1	0	33	150				
LILRA3	11026	broad.mit.edu	37	19	54803071	54803071	+	Silent	SNP	C	C	T	rs147831783	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54803071C>T	ENST00000251390.3	-	4	697	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRA3_ENST00000391745.1_Silent_p.S219S|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	202	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCGCGCGAGTCATAAC	0.607													.|||	3	0.000599042	0.0023	0.0	5008	,	,		13384	0.0		0.0	False		,,,				2504	0.0					ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(655-657)tcG>tcA		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3		C	,	10,4378		0,10,2184	129.0	110.0	116.0		,606	-4.3	0.0	19	dbSNP_134	116	1,8317		0,1,4158	no	intron,coding-synonymous	LILRA3	NM_001172654.1,NM_006865.3	,	0,11,6342	TT,TC,CC		0.012,0.2279,0.0866	,	,202/440	54803071	11,12695	2194	4159	6353	SO:0001819	synonymous_variant	11026							g.chr19:54803071C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.606G>A	19.37:g.54803071C>T						LILRA3_ENST00000251390.3_Silent_p.S202S|LILRA3_ENST00000391744.3_Intron	p.S219S						GBM - Glioblastoma multiforme(193;0.105)	8	973	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.657G>A	CCDS12887.1																																																																																				0.607	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			29	136	0	0	0	1	0	29	136				
PFKFB2	5208	broad.mit.edu	37	1	207245651	207245651	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:207245651G>T	ENST00000367080.3	+	15	1577	c.1453G>T	c.(1453-1455)Ggg>Tgg	p.G485W	PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G452W|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000541914.1_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	485	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTACAGTGTTGGGAGCCGGCC	0.547																																						ENST00000367080.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1453-1455)Ggg>Tgg		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2							88.0	93.0	91.0					1																	207245651		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207245651G>T		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1453G>T	1.37:g.207245651G>T	ENSP00000356047:p.Gly485Trp					PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G452W|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000541914.1_Intron	p.G485W	NM_006212.2	NP_006203.2	O60825	F262_HUMAN			15	1577	+	Prostate(682;0.19)		485			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.1453G>T	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785707	0.90282	.	.	ENSG00000123836	ENST00000367080;ENST00000545806	.	.	.	5.46	5.46	0.80206	.	0.099819	0.64402	D	0.000001	T	0.67571	0.2907	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.69435	-0.5146	9	0.72032	D	0.01	.	18.3011	0.90164	0.0:0.0:1.0:0.0	.	485	O60825	F262_HUMAN	W	485;452	.	ENSP00000356047:G485W	G	+	1	0	PFKFB2	205312274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.116000	0.94341	2.744000	0.94065	0.650000	0.86243	GGG		0.547	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1			25	92	1	0	1.17739e-12	1	1.27914e-12	25	92				
KRT3	3850	broad.mit.edu	37	12	53187000	53187000	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53187000C>T	ENST00000417996.2	-	3	948	c.874G>A	c.(874-876)Gat>Aat	p.D292N	KRT3_ENST00000309505.3_Missense_Mutation_p.D292N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	292	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGATTTCATCCTCATATCTG	0.423																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(874-876)Gat>Aat		keratin 3							104.0	108.0	106.0					12																	53187000		2121	4285	6406	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187000C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.874G>A	12.37:g.53187000C>T	ENSP00000413479:p.Asp292Asn					KRT3_ENST00000309505.3_Missense_Mutation_p.D292N	p.D292N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			3	948	-			292			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.874G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786186	0.70337	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.79352	-1.26;-1.26	4.59	4.59	0.56863	Filament (1);	0.000000	0.48286	D	0.000186	D	0.86485	0.5944	M	0.76574	2.34	0.35004	D	0.756256	D	0.89917	1.0	D	0.76575	0.988	D	0.91083	0.4901	10	0.87932	D	0	.	12.6676	0.56851	0.0:0.834:0.166:0.0	.	292	P12035	K2C3_HUMAN	N	292	ENSP00000413479:D292N;ENSP00000312206:D292N	ENSP00000312206:D292N	D	-	1	0	KRT3	51473267	0.995000	0.38212	1.000000	0.80357	0.897000	0.52465	2.437000	0.44828	2.263000	0.75096	0.561000	0.74099	GAT		0.423	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		3	16	0	0	0	1	0	3	16				
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs377557477|rs35074164|rs368732130	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.53													?|-|T|unsure	814	0.16254	0.1286	0.1282	5008	,	,		19280	0.2272		0.0835	False		,,,				2504	0.2474					ENST00000434990.1																			0																																																			26479							g.chr2:71283122_71283123insT																													2.37:g.71283122_71283123insT														0	61	-									RNA	INS	ENST00000434990.1	37																																																																																						0.530	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			2	4						2	4	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540893	187540894	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:187540893_187540894delAC	ENST00000441802.2	-	10	7055_7056	c.6846_6847delGT	c.(6844-6849)gtgtttfs	p.F2283fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2283	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGAGCAAACACAGGAGGGT	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6844-6849)gtttfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540893_187540894delAC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6846_6847delGT	4.37:g.187540895_187540896delAC	ENSP00000406229:p.Phe2283fs	HNSCC(5;0.00058)					p.VF2282fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7055_7056	-			2282			Cadherin 20.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.6846_6847delGT	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		54	75						54	75	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	lincRNA	DEL	A	A	-	rs60396213|rs57773684		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692																																						ENST00000412295.2																			0																																																			0							g.chr5:180708854delA																													5.37:g.180708854delA														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.692	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			3	6						3	6	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112510351	112510353	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:112510351_112510353delCTT	ENST00000230538.7	-	7	1170_1172	c.773_775delAAG	c.(772-777)gaaggt>ggt	p.E258del	LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000389463.4_In_Frame_Del_p.E258del|LAMA4_ENST00000424408.2_In_Frame_Del_p.E258del|LAMA4_ENST00000522006.1_In_Frame_Del_p.E258del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	258	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTCAAAACCTTCTTCCAAGCA	0.468																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(772-777)ggt>g		laminin, alpha 4																																				SO:0001651	inframe_deletion	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112510351_112510353delCTT		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.773_775delAAG	6.37:g.112510354_112510356delCTT	ENSP00000230538:p.Glu258del					LAMA4_ENST00000389463.4_In_Frame_Del_p.EG258del|LAMA4_ENST00000522006.1_In_Frame_Del_p.EG258del|LAMA4_ENST00000424408.2_In_Frame_Del_p.EG258del	p.EG258del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	7	1170_1172	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	258			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	In_Frame_Del	DEL	ENST00000230538.7	37	c.773_775delAAG	CCDS43491.1																																																																																				0.468	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		22	69						22	69	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043206	35043207	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35043206_35043207delCA	ENST00000312292.5	+	2	627_628	c.580_581delCA	c.(580-582)cagfs	p.Q194fs	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.Q121fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.Q146fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	194										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAGAAAAAGCCAGCTCTTCTGG	0.559																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(580-582)gfs		chromosome 9 open reading frame 131																																				SO:0001589	frameshift_variant	138724							g.chr9:35043206_35043207delCA	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.580_581delCA	9.37:g.35043206_35043207delCA	ENSP00000308279:p.Gln194fs					C9orf131_ENST00000354479.5_Frame_Shift_Del_p.Q121fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.Q146fs	p.Q194fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	627_628	+	all_epithelial(49;0.22)		194					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	c.580_581delCA	CCDS6572.2																																																																																				0.559	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		21	133						21	133	---	---	---	---
RP11-383M4.6	0	broad.mit.edu	37	9	84564861	84564861	+	lincRNA	DEL	A	A	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:84564861delA	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GACCAGTGCTAAAAACACTGT	0.488																																						ENST00000585776.1																			0																																																			0							g.chr9:84564861delA																													9.37:g.84564861delA						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	DEL	ENST00000585776.1	37																																																																																						0.488	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			2	4						2	4	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49422626	49422627	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49422626_49422627delAG	ENST00000301067.7	-	45	14365_14366	c.14366_14367delCT	c.(14365-14367)tctfs	p.S4789fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4789					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCAGCAGCAGAGACTGTGAG	0.54																																						ENST00000301067.7																			0											c.(14365-14367)tfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49422626_49422627delAG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14366_14367delCT	12.37:g.49422628_49422629delAG	ENSP00000301067:p.Ser4789fs						p.S4789fs	NM_003482.3	NP_003473.3					45	14365_14366	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.14366_14367delCT	CCDS44873.1																																																																																				0.540	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	88						22	88	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-	rs544816257		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)gagdel	p.E100del		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783																																						ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(286-288)del		protein phosphatase, Mg2+/Mn2+ dependent, 1E				173,3033		18,137,1448						0.3	0.0			5	371,5843		38,295,2774	no	coding	PPM1E	NM_014906.3		56,432,4222	A1A1,A1R,RR		5.9704,5.3961,5.7749				544,8876				SO:0001651	inframe_deletion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833644_56833646delGAG	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.286_288delGAG	17.37:g.56833653_56833655delGAG	ENSP00000312411:p.Glu100del						p.E100del	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	415_417	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		100			Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Del	DEL	ENST00000308249.2	37	c.286_288delGAG	CCDS11613.1																																																																																				0.783	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		3	3						3	3	---	---	---	---
RP11-161I6.2	0	broad.mit.edu	37	18	2089466	2089466	+	lincRNA	DEL	A	A	-	rs58767171|rs199507837	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:2089466delA	ENST00000579097.1	-	0	310																											CTGCCCCCCCACCCACTCACC	0.527													?|A|-|unsure	4115	0.821685	0.8366	0.7896	5008	,	,		12157	1.0		0.6332	False		,,,				2504	0.8344					ENST00000579097.1																			0																																																			0							g.chr18:2089466delA																													18.37:g.2089466delA														0	310	-									RNA	DEL	ENST00000579097.1	37																																																																																						0.527	RP11-161I6.2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441770.1			5	3						5	3	---	---	---	---
RP1-154K9.2	0	broad.mit.edu	37	X	42384559	42384560	+	lincRNA	INS	-	-	A	rs60076548|rs370030451		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:42384559_42384560insA	ENST00000411879.1	+	0	523																											CCAGCCAAGGGAAAAAAAAAAA	0.327																																						ENST00000411879.1																			0																																																			0							g.chrX:42384559_42384560insA																													X.37:g.42384570_42384570dupA														0	523	+									RNA	INS	ENST00000411879.1	37																																																																																						0.327	RP1-154K9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056295.1			5	6						5	6	---	---	---	---
